MCID: NDL022
MIFTS: 30

Nodular Neuronal Heterotopia

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nodular Neuronal Heterotopia

MalaCards integrated aliases for Nodular Neuronal Heterotopia:

Name: Nodular Neuronal Heterotopia 58 29

Characteristics:

Orphanet epidemiological data:

58
nodular neuronal heterotopia
Inheritance: Autosomal recessive,X-linked dominant; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.8
Orphanet 58 ORPHA2149

Summaries for Nodular Neuronal Heterotopia

MalaCards based summary : Nodular Neuronal Heterotopia is related to hydrocephalus and periventricular nodular heterotopia. An important gene associated with Nodular Neuronal Heterotopia is ARFGEF2 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2). Affiliated tissues include brain and cortex, and related phenotypes are eeg abnormality and abnormality of neuronal migration

Related Diseases for Nodular Neuronal Heterotopia

Graphical network of the top 20 diseases related to Nodular Neuronal Heterotopia:



Diseases related to Nodular Neuronal Heterotopia

Symptoms & Phenotypes for Nodular Neuronal Heterotopia

Human phenotypes related to Nodular Neuronal Heterotopia:

58 31 (showing 4, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
2 abnormality of neuronal migration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002269
3 seizure 31 hallmark (90%) HP:0001250
4 seizures 58 Very frequent (99-80%)

Drugs & Therapeutics for Nodular Neuronal Heterotopia

Search Clinical Trials , NIH Clinical Center for Nodular Neuronal Heterotopia

Genetic Tests for Nodular Neuronal Heterotopia

Genetic tests related to Nodular Neuronal Heterotopia:

# Genetic test Affiliating Genes
1 Nodular Neuronal Heterotopia 29

Anatomical Context for Nodular Neuronal Heterotopia

MalaCards organs/tissues related to Nodular Neuronal Heterotopia:

40
Brain, Cortex

Publications for Nodular Neuronal Heterotopia

Articles related to Nodular Neuronal Heterotopia:

(showing 37, show less)
# Title Authors PMID Year
1
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. 6
30561107 2019
2
Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 6
29706646 2018
3
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation. 6
28428218 2017
4
Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders. 6
26061098 2016
5
Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. 6
26686323 2016
6
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation. 6
26804200 2016
7
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects. 6
26059211 2015
8
47 patients with FLNA associated periventricular nodular heterotopia. 6
26471271 2015
9
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. 6
25686753 2015
10
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
11
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. 6
25614868 2014
12
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. 6
24056535 2013
13
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation. 6
23812912 2013
14
Novel no-stop FLNA mutation causes multi-organ involvement in males. 6
23873601 2013
15
Combined cardiological and neurological abnormalities due to filamin A gene mutation. 6
20730588 2011
16
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. 6
20598277 2010
17
Novel cardiac findings in periventricular nodular heterotopia. 6
20014127 2010
18
Filamin A mutation is one cause of FG syndrome. 6
17632775 2007
19
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 6
17264970 2007
20
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 6
16835913 2006
21
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 6
16684786 2006
22
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. 6
16299064 2006
23
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 6
16596676 2006
24
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 6
15994863 2006
25
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. 6
16303888 2005
26
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 6
15523633 2005
27
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 6
15668422 2005
28
Molecular pathology of filamin A: diverse phenotypes, many functions. 6
15194946 2004
29
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. 6
14647276 2004
30
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 6
12612583 2003
31
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 6
11914408 2002
32
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. 6
11532987 2001
33
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. 6
9883725 1998
34
Periventricular heterotopia and epilepsy. 6
8290091 1994
35
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. 6
3658675 1987
36
Characterization of nodular neuronal heterotopia in children. 61
10071051 1999
37
Neuronal migration disorders: a contribution of modern neuroimaging to the etiologic diagnosis of epilepsy. 61
1777874 1991

Variations for Nodular Neuronal Heterotopia

ClinVar genetic disease variations for Nodular Neuronal Heterotopia:

6 (showing 913, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARFGEF2 ARFGEF2, PRO81GLN, VAL83LEU, 249delA Deletion Pathogenic 5051 GRCh37:
GRCh38:
2 ARFGEF2 NM_006420.3(ARFGEF2):c.1958+1G>A SNV Pathogenic 89028 rs398122523 GRCh37: 20:47592737-47592737
GRCh38: 20:48976200-48976200
3 ARFGEF2 NM_006420.3(ARFGEF2):c.1492del (p.Met498fs) Deletion Pathogenic 803610 rs1600623496 GRCh37: 20:47588929-47588929
GRCh38: 20:48972392-48972392
4 ARFGEF2 NM_006420.3(ARFGEF2):c.5254C>T (p.Arg1752Ter) SNV Pathogenic 803611 rs1380925561 GRCh37: 20:47649632-47649632
GRCh38: 20:49033095-49033095
5 FLNA NC_000023.10:g.(?_153576900)_(153599729_?)del Deletion Pathogenic 417354 GRCh37: X:153576900-153599729
GRCh38:
6 FLNA NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter) SNV Pathogenic 11747 rs137853310 GRCh37: X:153596288-153596288
GRCh38: X:154367920-154367920
7 FLNA NM_001110556.2(FLNA):c.720+2T>C SNV Pathogenic 11748 rs863223295 GRCh37: X:153596007-153596007
GRCh38: X:154367639-154367639
8 FLNA NM_001110556.2(FLNA):c.623-3C>G SNV Pathogenic 11749 rs398123622 GRCh37: X:153596109-153596109
GRCh38: X:154367741-154367741
9 FLNA NM_001110556.2(FLNA):c.373+1G>A SNV Pathogenic 11750 rs863223296 GRCh37: X:153599240-153599240
GRCh38: X:154370872-154370872
10 FLNA NM_001110556.2(FLNA):c.287_291del (p.Arg96fs) Deletion Pathogenic 11751 rs863223297 GRCh37: X:153599323-153599327
GRCh38: X:154370955-154370959
11 FLNA NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) SNV Pathogenic 11752 rs137853311 GRCh37: X:153592950-153592950
GRCh38: X:154364582-154364582
12 FLNA NM_001110556.2(FLNA):c.6915C>G (p.Tyr2305Ter) SNV Pathogenic 11753 rs781910090 GRCh37: X:153580057-153580057
GRCh38: X:154351689-154351689
13 FLNA NM_001110556.2(FLNA):c.245A>T (p.Glu82Val) SNV Pathogenic 11754 rs28935169 GRCh37: X:153599369-153599369
GRCh38: X:154371001-154371001
14 FLNA NM_001110556.2(FLNA):c.2762del (p.Arg921fs) Deletion Pathogenic 11763 rs1569551736 GRCh37: X:153590411-153590411
GRCh38: X:154362043-154362043
15 FLNA NM_001110556.2(FLNA):c.4147del (p.Ala1383fs) Deletion Pathogenic 11764 rs863223299 GRCh37: X:153587770-153587770
GRCh38: X:154359402-154359402
16 FLNA NM_001110556.2(FLNA):c.116C>G (p.Ala39Gly) SNV Pathogenic 11765 rs137853313 GRCh37: X:153599498-153599498
GRCh38: X:154371130-154371130
17 FLNA NM_001110556.2(FLNA):c.383C>T (p.Ala128Val) SNV Pathogenic 11767 rs137853315 GRCh37: X:153596449-153596449
GRCh38: X:154368081-154368081
18 ERMARD NM_018341.3(ERMARD):c.1130T>A (p.Ile377Asn) SNV Pathogenic 88869 rs398122410 GRCh37: 6:170169706-170169706
GRCh38: 6:169769610-169769610
19 FLNA NM_001110556.2(FLNA):c.1430-1G>T SNV Pathogenic 190178 rs786205177 GRCh37: X:153593855-153593855
GRCh38: X:154365487-154365487
20 ARFGEF2 NM_006420.3(ARFGEF2):c.2638_2639delinsT (p.Pro880fs) Indel Pathogenic 434297 rs1555811929 GRCh37: 20:47605926-47605927
GRCh38: 20:48989389-48989390
21 FLNA NM_001110556.2(FLNA):c.1829-2A>G SNV Pathogenic 190184 rs786205183 GRCh37: X:153593089-153593089
GRCh38: X:154364721-154364721
22 FLNA NM_001110556.2(FLNA):c.2565+1G>C SNV Pathogenic 190187 rs786205186 GRCh37: X:153590785-153590785
GRCh38: X:154362417-154362417
23 FLNA NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs) Duplication Pathogenic 93761 rs398123620 GRCh37: X:153587378-153587379
GRCh38: X:154359010-154359011
24 FLNA NM_001110556.2(FLNA):c.6355_6356del (p.Lys2119fs) Deletion Pathogenic 190202 rs786205201 GRCh37: X:153581163-153581164
GRCh38: X:154352795-154352796
25 FLNA NM_001110556.2(FLNA):c.4450C>T (p.Gln1484Ter) SNV Pathogenic 369957 rs1057516198 GRCh37: X:153587376-153587376
GRCh38: X:154359008-154359008
26 FLNA NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) SNV Pathogenic 405446 rs1060500717 GRCh37: X:153580594-153580594
GRCh38: X:154352226-154352226
27 FLNA NM_001110556.2(FLNA):c.82A>G (p.Met28Val) SNV Pathogenic 488068 rs1557180226 GRCh37: X:153599532-153599532
GRCh38: X:154371164-154371164
28 FLNA NM_001110556.2(FLNA):c.2280+389T>A SNV Pathogenic 488069 rs1557178535 GRCh37: X:153592001-153592001
GRCh38: X:154363633-154363633
29 FLNA NM_001110556.2(FLNA):c.1065G>A (p.Lys355=) SNV Pathogenic 488067 rs1557179325 GRCh37: X:153594930-153594930
GRCh38: X:154366562-154366562
30 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) SNV Pathogenic 533562 rs1557177738 GRCh37: X:153588634-153588634
GRCh38: X:154360266-154360266
31 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) SNV Pathogenic 209154 rs797045044 GRCh37: X:153586596-153586596
GRCh38: X:154358228-154358228
32 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) Deletion Pathogenic 652215 rs1603358246 GRCh37: X:153577288-153577289
GRCh38: X:154348920-154348921
33 FLNA NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) SNV Pathogenic 853726 GRCh37: X:153594961-153594961
GRCh38: X:154366593-154366593
34 FLNA NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) SNV Pathogenic 856285 GRCh37: X:153582022-153582022
GRCh38: X:154353654-154353654
35 FLNA NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) SNV Pathogenic 864458 GRCh37: X:153594745-153594745
GRCh38: X:154366377-154366377
36 FLNA NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) Deletion Pathogenic 940733 GRCh37: X:153592978-153592984
GRCh38: X:154364610-154364616
37 FLNA NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) SNV Pathogenic 941466 GRCh37: X:153588421-153588421
GRCh38: X:154360053-154360053
38 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) Microsatellite Pathogenic 938503 GRCh37: X:153577873-153577874
GRCh38: X:154349505-154349506
39 FLNA NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) SNV Pathogenic 959369 GRCh37: X:153585923-153585923
GRCh38: X:154357555-154357555
40 FLNA NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) Duplication Pathogenic 959608 GRCh37: X:153591149-153591150
GRCh38: X:154362781-154362782
41 FLNA NM_001110556.2(FLNA):c.6586del (p.His2196fs) Deletion Pathogenic 964600 GRCh37: X:153580732-153580732
GRCh38: X:154352364-154352364
42 FLNA NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) SNV Pathogenic 967048 GRCh37: X:153594817-153594817
GRCh38: X:154366449-154366449
43 FLNA NM_001110556.2(FLNA):c.138_139dup (p.Asn47fs) Duplication Pathogenic 976300 GRCh37: X:153599474-153599475
GRCh38: X:154371106-154371107
44 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) Deletion Pathogenic 405447 rs1060500718 GRCh37: X:153581697-153581698
GRCh38: X:154353329-154353330
45 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) SNV Pathogenic 405445 rs1060500716 GRCh37: X:153588495-153588495
GRCh38: X:154360127-154360127
46 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) Deletion Pathogenic 464997 rs1557177086 GRCh37: X:153585895-153585907
GRCh38: X:154357527-154357539
47 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) Duplication Pathogenic 465027 rs1557179357 GRCh37: X:153594986-153594987
GRCh38: X:154366618-154366619
48 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) Deletion Pathogenic 533585 rs1557177636 GRCh37: X:153588265-153588265
GRCh38: X:154359897-154359897
49 FLNA NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) SNV Pathogenic 574177 rs1557177623 GRCh37: X:153588214-153588214
GRCh38: X:154359846-154359846
50 FLNA NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) SNV Pathogenic 580826 rs1569551861 GRCh37: X:153596053-153596053
GRCh38: X:154367685-154367685
51 FLNA NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) Duplication Pathogenic 647567 rs1603359464 GRCh37: X:153581806-153581807
GRCh38: X:154353438-154353439
52 FLNA NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) Deletion Pathogenic 575768 rs1569551502 GRCh37: X:153582326-153582326
GRCh38: X:154353958-154353958
53 FLNA NM_001110556.2(FLNA):c.2452del (p.Ala818fs) Deletion Pathogenic 659278 rs1603361851 GRCh37: X:153590899-153590899
GRCh38: X:154362531-154362531
54 FLNA NM_001110556.2(FLNA):c.2565+1G>A SNV Pathogenic 575118 rs786205186 GRCh37: X:153590785-153590785
GRCh38: X:154362417-154362417
55 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) Indel Pathogenic 662513 rs1603361195 GRCh37: X:153588859-153588867
GRCh38: X:154360491-154360499
56 FLNA NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) Deletion Pathogenic 190179 rs786205178 GRCh37: X:153580680-153580683
GRCh38: X:154352312-154352315
57 FLNA NM_001110556.2(FLNA):c.7021C>T (p.Gln2341Ter) SNV Pathogenic 807601 rs1603358919 GRCh37: X:153579951-153579951
GRCh38: X:154351583-154351583
58 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) Insertion Pathogenic 453200 rs1557175195 GRCh37: X:153577381-153577382
GRCh38: X:154349013-154349014
59 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) SNV Pathogenic 11761 rs137853312 GRCh37: X:153588606-153588606
GRCh38: X:154360238-154360238
60 FLNA NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) SNV Pathogenic 11775 rs387907371 GRCh37: X:153583193-153583193
GRCh38: X:154354825-154354825
61 FLNA NM_001110556.2(FLNA):c.5796del (p.Asp1931_Tyr1932insTer) Deletion Pathogenic 1012290 GRCh37: X:153581986-153581986
GRCh38: X:154353618-154353618
62 FLNA NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) SNV Pathogenic 234717 rs782308324 GRCh37: X:153578477-153578477
GRCh38: X:154350109-154350109
63 FLNA NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) SNV Pathogenic 488066 rs1557179536 GRCh37: X:153595780-153595780
GRCh38: X:154367412-154367412
64 FLNA NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) SNV Pathogenic 11770 rs80338841 GRCh37: X:153592993-153592993
GRCh38: X:154364625-154364625
65 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter) SNV Pathogenic 29928 rs398122812 GRCh37: X:153577265-153577265
GRCh38: X:154348897-154348897
66 ARFGEF2 NM_006420.3(ARFGEF2):c.1466C>G (p.Ser489Ter) SNV Pathogenic 1033102 GRCh37: 20:47588903-47588903
GRCh38: 20:48972366-48972366
67 FLNA NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) SNV Pathogenic 11775 rs387907371 GRCh37: X:153583193-153583193
GRCh38: X:154354825-154354825
68 FLNA NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter) SNV Pathogenic 931351 GRCh37: X:153592992-153592992
GRCh38: X:154364624-154364624
69 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) Deletion Likely pathogenic 213497 rs863223635 GRCh37: X:153577261-153577263
GRCh38: X:154348893-154348895
70 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Likely pathogenic 11772 rs137853317 GRCh37: X:153596246-153596246
GRCh38: X:154367878-154367878
71 FLNA NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) SNV Likely pathogenic 435207 rs782426283 GRCh37: X:153587685-153587685
GRCh38: X:154359317-154359317
72 FLNA NM_001110556.2(FLNA):c.4142+1G>A SNV Likely pathogenic 662049 rs1603360906 GRCh37: X:153587851-153587851
GRCh38: X:154359483-154359483
73 FLNA NM_001110556.2(FLNA):c.4596_4598+5del Deletion Likely pathogenic 464993 rs1557177279 GRCh37: X:153586808-153586815
GRCh38: X:154358440-154358447
74 FLNA NM_001110556.2(FLNA):c.5686+1G>C SNV Likely pathogenic 533566 rs1557176315 GRCh37: X:153582282-153582282
GRCh38: X:154353914-154353914
75 FLNA NM_001110556.2(FLNA):c.4143-1G>T SNV Likely pathogenic 464989 rs1557177485 GRCh37: X:153587775-153587775
GRCh38: X:154359407-154359407
76 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del) Microsatellite Likely pathogenic 854776 GRCh37: X:153577388-153577390
GRCh38: X:154349020-154349022
77 FLNA NM_001110556.2(FLNA):c.2827-2A>C SNV Likely pathogenic 859086 GRCh37: X:153590157-153590157
GRCh38: X:154361789-154361789
78 FLNA NM_001110556.2(FLNA):c.1065+1G>T SNV Likely pathogenic 841425 GRCh37: X:153594929-153594929
GRCh38: X:154366561-154366561
79 FLNA NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter) SNV Likely pathogenic 626251 rs782121971 GRCh37: X:153594785-153594785
GRCh38: X:154366417-154366417
80 FLNA NM_001110556.2(FLNA):c.7333+1G>A SNV Likely pathogenic 438607 rs1557175424 GRCh37: X:153578398-153578398
GRCh38: X:154350030-154350030
81 FLNA NM_001110556.2(FLNA):c.6772G>T (p.Glu2258Ter) SNV Likely pathogenic 562017 rs1569551449 GRCh37: X:153580387-153580387
GRCh38: X:154352019-154352019
82 FLNA NM_001110556.2(FLNA):c.6503-2A>C SNV Likely pathogenic 405448 rs112363874 GRCh37: X:153580817-153580817
GRCh38: X:154352449-154352449
83 FLNA NM_001110556.2(FLNA):c.6580G>T (p.Glu2194Ter) SNV Likely pathogenic 190203 rs786205202 GRCh37: X:153580738-153580738
GRCh38: X:154352370-154352370
84 FLNA NM_001110556.2(FLNA):c.732dup (p.Glu245fs) Duplication Likely pathogenic 190204 rs786205203 GRCh37: X:153595900-153595901
GRCh38: X:154367532-154367533
85 FLNA NM_001110556.2(FLNA):c.987+1G>A SNV Likely pathogenic 190205 rs786205204 GRCh37: X:153595099-153595099
GRCh38: X:154366731-154366731
86 ARFGEF2 NM_006420.3(ARFGEF2):c.4269del (p.Leu1424fs) Deletion Likely pathogenic 930714 GRCh37: 20:47632905-47632905
GRCh38: 20:49016368-49016368
87 FLNA NM_001110556.2(FLNA):c.4617_4618del (p.Leu1540fs) Deletion Likely pathogenic 190195 rs786205194 GRCh37: X:153586704-153586705
GRCh38: X:154358336-154358337
88 FLNA NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter) SNV Likely pathogenic 190198 rs786205197 GRCh37: X:153585812-153585812
GRCh38: X:154357444-154357444
89 FLNA NM_001110556.2(FLNA):c.4943del (p.Thr1648fs) Deletion Likely pathogenic 190199 rs786205198 GRCh37: X:153585804-153585804
GRCh38: X:154357436-154357436
90 FLNA NM_001110556.2(FLNA):c.5019_5020TG[1] (p.Val1674fs) Microsatellite Likely pathogenic 190200 rs786205199 GRCh37: X:153583388-153583389
GRCh38: X:154355020-154355021
91 FLNA NM_001110556.2(FLNA):c.3529del (p.Glu1177fs) Deletion Likely pathogenic 190189 rs786205188 GRCh37: X:153588634-153588634
GRCh38: X:154360266-154360266
92 FLNA NM_001110556.2(FLNA):c.3875_3888dup (p.Val1297fs) Duplication Likely pathogenic 190190 rs786205189 GRCh37: X:153588190-153588191
GRCh38: X:154359822-154359823
93 FLNA NM_001110556.2(FLNA):c.3980-5_3990dup Duplication Likely pathogenic 190191 rs786205190 GRCh37: X:153588003-153588004
GRCh38: X:154359635-154359636
94 FLNA NM_001110556.2(FLNA):c.4006del (p.Asp1336fs) Deletion Likely pathogenic 190192 rs786205191 GRCh37: X:153587988-153587988
GRCh38: X:154359620-154359620
95 FLNA NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter) SNV Likely pathogenic 190180 rs370490152 GRCh37: X:153594950-153594950
GRCh38: X:154366582-154366582
96 FLNA NM_001110556.2(FLNA):c.1061_1065del (p.His354fs) Deletion Likely pathogenic 190181 rs786205180 GRCh37: X:153594930-153594934
GRCh38: X:154366562-154366566
97 FLNA NM_001110556.2(FLNA):c.137del (p.Gln46fs) Deletion Likely pathogenic 190182 rs786205181 GRCh37: X:153599477-153599477
GRCh38: X:154371109-154371109
98 FLNA NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter) SNV Likely pathogenic 190183 rs786205182 GRCh37: X:153593295-153593295
GRCh38: X:154364927-154364927
99 FLNA NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) SNV Conflicting interpretations of pathogenicity 190194 rs200130356 GRCh37: X:153587375-153587375
GRCh38: X:154359007-154359007
100 ARFGEF2 NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) SNV Conflicting interpretations of pathogenicity 5050 rs28937880 GRCh37: 20:47570114-47570114
GRCh38: 20:48953577-48953577
101 ERMARD NM_018341.3(ERMARD):c.1394+1G>T SNV Uncertain significance 1030652 GRCh37: 6:170175443-170175443
GRCh38: 6:169775347-169775347
102 ARFGEF2 NM_006420.3(ARFGEF2):c.1105G>A (p.Val369Ile) SNV Uncertain significance 1033101 GRCh37: 20:47585729-47585729
GRCh38: 20:48969192-48969192
103 FLNA NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) SNV Uncertain significance 533573 rs369668866 GRCh37: X:153588903-153588903
GRCh38: X:154360535-154360535
104 FLNA NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) SNV Uncertain significance 93756 rs371677498 GRCh37: X:153588840-153588840
GRCh38: X:154360472-154360472
105 FLNA NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) SNV Uncertain significance 213491 rs782447567 GRCh37: X:153596263-153596263
GRCh38: X:154367895-154367895
106 FLNA NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu) SNV Uncertain significance 387722 rs371830740 GRCh37: X:153595119-153595119
GRCh38: X:154366751-154366751
107 FLNA NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) SNV Uncertain significance 167077 rs727503930 GRCh37: X:153578560-153578560
GRCh38: X:154350192-154350192
108 ARFGEF2 NM_006420.3(ARFGEF2):c.2260A>G (p.Ile754Val) SNV Uncertain significance 1033103 GRCh37: 20:47602134-47602134
GRCh38: 20:48985597-48985597
109 ARFGEF2 NM_006420.3(ARFGEF2):c.338G>A (p.Arg113Gln) SNV Uncertain significance 813556 GRCh37: 20:47567921-47567921
GRCh38: 20:48951384-48951384
110 ARFGEF2 NM_006420.3(ARFGEF2):c.3718A>G (p.Ile1240Val) SNV Uncertain significance 1033104 GRCh37: 20:47626902-47626902
GRCh38: 20:49010365-49010365
111 FLNA NM_001110556.2(FLNA):c.4589T>G (p.Val1530Gly) SNV Uncertain significance 1035000 GRCh37: X:153586822-153586822
GRCh38: X:154358454-154358454
112 FLNA NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) SNV Uncertain significance 197460 rs781878646 GRCh37: X:153579959-153579959
GRCh38: X:154351591-154351591
113 FLNA NM_001110556.2(FLNA):c.305T>G (p.Met102Arg) SNV Uncertain significance 1036609 GRCh37: X:153599309-153599309
GRCh38: X:154370941-154370941
114 FLNA NM_001110556.2(FLNA):c.2071A>C (p.Lys691Gln) SNV Uncertain significance 1036639 GRCh37: X:153592692-153592692
GRCh38: X:154364324-154364324
115 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) Deletion Uncertain significance 213497 rs863223635 GRCh37: X:153577261-153577263
GRCh38: X:154348893-154348895
116 FLNA NM_001110556.2(FLNA):c.3139T>C (p.Tyr1047His) SNV Uncertain significance 1038868 GRCh37: X:153589744-153589744
GRCh38: X:154361376-154361376
117 FLNA NM_001110556.2(FLNA):c.781C>G (p.Leu261Val) SNV Uncertain significance 1038884 GRCh37: X:153595852-153595852
GRCh38: X:154367484-154367484
118 FLNA NM_001110556.2(FLNA):c.4152C>T (p.Gly1384=) SNV Uncertain significance 1039207 GRCh37: X:153587765-153587765
GRCh38: X:154359397-154359397
119 FLNA NM_001110556.2(FLNA):c.2953G>A (p.Val985Ile) SNV Uncertain significance 1039306 GRCh37: X:153589930-153589930
GRCh38: X:154361562-154361562
120 FLNA NM_001110556.2(FLNA):c.1430-3C>T SNV Uncertain significance 1039534 GRCh37: X:153593857-153593857
GRCh38: X:154365489-154365489
121 FLNA NM_001110556.2(FLNA):c.1664C>T (p.Thr555Met) SNV Uncertain significance 1040057 GRCh37: X:153593531-153593531
GRCh38: X:154365163-154365163
122 FLNA NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr) SNV Uncertain significance 1041672 GRCh37: X:153594935-153594935
GRCh38: X:154366567-154366567
123 FLNA NM_001110556.2(FLNA):c.7451G>A (p.Arg2484His) SNV Uncertain significance 1041886 GRCh37: X:153578118-153578118
GRCh38: X:154349750-154349750
124 FLNA NM_001110556.2(FLNA):c.7448A>G (p.Tyr2483Cys) SNV Uncertain significance 1042206 GRCh37: X:153578121-153578121
GRCh38: X:154349753-154349753
125 FLNA NM_001110556.2(FLNA):c.2413A>G (p.Ser805Gly) SNV Uncertain significance 1043364 GRCh37: X:153590938-153590938
GRCh38: X:154362570-154362570
126 FLNA NM_001110556.2(FLNA):c.5146C>G (p.Gln1716Glu) SNV Uncertain significance 1043378 GRCh37: X:153583264-153583264
GRCh38: X:154354896-154354896
127 FLNA NM_001110556.2(FLNA):c.2057G>A (p.Gly686Asp) SNV Uncertain significance 1043749 GRCh37: X:153592706-153592706
GRCh38: X:154364338-154364338
128 FLNA NM_001110556.2(FLNA):c.2405-17_2405-3del Deletion Uncertain significance 1044280 GRCh37: X:153590949-153590963
GRCh38: X:154362581-154362595
129 FLNA NM_001110556.2(FLNA):c.6142A>C (p.Ser2048Arg) SNV Uncertain significance 1044281 GRCh37: X:153581453-153581453
GRCh38: X:154353085-154353085
130 FLNA NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) SNV Uncertain significance 11770 rs80338841 GRCh37: X:153592993-153592993
GRCh38: X:154364625-154364625
131 FLNA NM_001110556.2(FLNA):c.7059T>G (p.Phe2353Leu) SNV Uncertain significance 220986 rs864622713 GRCh37: X:153579374-153579374
GRCh38: X:154351006-154351006
132 FLNA NM_001110556.2(FLNA):c.3856A>T (p.Thr1286Ser) SNV Uncertain significance 1044939 GRCh37: X:153588223-153588223
GRCh38: X:154359855-154359855
133 FLNA NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu) SNV Uncertain significance 1045561 GRCh37: X:153590438-153590438
GRCh38: X:154362070-154362070
134 FLNA NM_001110556.2(FLNA):c.3643G>A (p.Gly1215Ser) SNV Uncertain significance 1045804 GRCh37: X:153588520-153588520
GRCh38: X:154360152-154360152
135 FLNA NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) SNV Uncertain significance 213491 rs782447567 GRCh37: X:153596263-153596263
GRCh38: X:154367895-154367895
136 FLNA NM_001110556.2(FLNA):c.4475-15TGGGGC[3] Microsatellite Uncertain significance 1046793 GRCh37: X:153586939-153586940
GRCh38: X:154358571-154358572
137 FLNA NM_001110556.2(FLNA):c.7059T>G (p.Phe2353Leu) SNV Uncertain significance 220986 rs864622713 GRCh37: X:153579374-153579374
GRCh38: X:154351006-154351006
138 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) SNV Uncertain significance 392335 GRCh37: X:153577858-153577858
GRCh38: X:154349490-154349490
139 FLNA NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln) SNV Uncertain significance 807861 rs1483960506 GRCh37: X:153581684-153581684
GRCh38: X:154353316-154353316
140 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) SNV Uncertain significance 392335 GRCh37: X:153577858-153577858
GRCh38: X:154349490-154349490
141 FLNA NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) SNV Uncertain significance 488066 rs1557179536 GRCh37: X:153595780-153595780
GRCh38: X:154367412-154367412
142 ARFGEF2 NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His) SNV Uncertain significance 210235 rs151045115 GRCh37: 20:47614885-47614885
GRCh38: 20:48998348-48998348
143 ARFGEF2 NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) SNV Uncertain significance 210239 rs139037316 GRCh37: 20:47628595-47628595
GRCh38: 20:49012058-49012058
144 FLNA NM_001110556.2(FLNA):c.6218G>A (p.Arg2073His) SNV Uncertain significance 213470 rs781956012 GRCh37: X:153581377-153581377
GRCh38: X:154353009-154353009
145 FLNA NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) SNV Uncertain significance 405456 rs782095418 GRCh37: X:153582378-153582378
GRCh38: X:154354010-154354010
146 FLNA NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) SNV Uncertain significance 213520 rs782371735 GRCh37: X:153593833-153593833
GRCh38: X:154365465-154365465
147 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu) SNV Uncertain significance 533564 rs1334045176 GRCh37: X:153577831-153577831
GRCh38: X:154349463-154349463
148 FLNA NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) SNV Uncertain significance 288752 rs200363918 GRCh37: X:153588455-153588455
GRCh38: X:154360087-154360087
149 FLNA NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala) SNV Uncertain significance 569597 rs782469665 GRCh37: X:153583351-153583351
GRCh38: X:154354983-154354983
150 FLNA NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup) Duplication Uncertain significance 572282 rs781960834 GRCh37: X:153583317-153583318
GRCh38: X:154354949-154354950
151 FLNA NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met) SNV Uncertain significance 838300 GRCh37: X:153594445-153594445
GRCh38: X:154366077-154366077
152 FLNA NM_001110556.2(FLNA):c.129G>C (p.Lys43Asn) SNV Uncertain significance 841885 GRCh37: X:153599485-153599485
GRCh38: X:154371117-154371117
153 FLNA NM_001110556.2(FLNA):c.3308C>T (p.Thr1103Met) SNV Uncertain significance 213469 rs781970327 GRCh37: X:153588855-153588855
GRCh38: X:154360487-154360487
154 FLNA NM_001110556.2(FLNA):c.3618G>A (p.Glu1206=) SNV Uncertain significance 845119 GRCh37: X:153588545-153588545
GRCh38: X:154360177-154360177
155 FLNA NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser) SNV Uncertain significance 846252 GRCh37: X:153594712-153594712
GRCh38: X:154366344-154366344
156 FLNA NM_001110556.2(FLNA):c.1609G>A (p.Val537Met) SNV Uncertain significance 847174 GRCh37: X:153593586-153593586
GRCh38: X:154365218-154365218
157 FLNA NM_001110556.2(FLNA):c.4294C>A (p.Gln1432Lys) SNV Uncertain significance 588853 rs192337215 GRCh37: X:153587623-153587623
GRCh38: X:154359255-154359255
158 FLNA NM_001110556.2(FLNA):c.7023+7C>T SNV Uncertain significance 858686 GRCh37: X:153579942-153579942
GRCh38: X:154351574-154351574
159 FLNA NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val) SNV Uncertain significance 859209 GRCh37: X:153578101-153578101
GRCh38: X:154349733-154349733
160 FLNA NM_001110556.2(FLNA):c.3947T>C (p.Met1316Thr) SNV Uncertain significance 934186 GRCh37: X:153588132-153588132
GRCh38: X:154359764-154359764
161 FLNA NM_001110556.2(FLNA):c.1342C>A (p.Pro448Thr) SNV Uncertain significance 934428 GRCh37: X:153594479-153594479
GRCh38: X:154366111-154366111
162 FLNA NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys) SNV Uncertain significance 937521 GRCh37: X:153582758-153582758
GRCh38: X:154354390-154354390
163 FLNA NM_001110556.2(FLNA):c.115G>T (p.Ala39Ser) SNV Uncertain significance 946889 GRCh37: X:153599499-153599499
GRCh38: X:154371131-154371131
164 FLNA NM_001110556.2(FLNA):c.2281-6_2281-2dup Duplication Uncertain significance 949963 GRCh37: X:153591153-153591154
GRCh38: X:154362785-154362786
165 FLNA NM_001110556.2(FLNA):c.806T>A (p.Leu269Gln) SNV Uncertain significance 950023 GRCh37: X:153595827-153595827
GRCh38: X:154367459-154367459
166 FLNA NM_001110556.2(FLNA):c.1688G>A (p.Arg563His) SNV Uncertain significance 589302 rs781852373 GRCh37: X:153593507-153593507
GRCh38: X:154365139-154365139
167 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly) SNV Uncertain significance 952392 GRCh37: X:153577318-153577318
GRCh38: X:154348950-154348950
168 FLNA NM_001110556.2(FLNA):c.7024G>A (p.Glu2342Lys) SNV Uncertain significance 952925 GRCh37: X:153579409-153579409
GRCh38: X:154351041-154351041
169 FLNA NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met) SNV Uncertain significance 953225 GRCh37: X:153578208-153578208
GRCh38: X:154349840-154349840
170 FLNA NM_001110556.2(FLNA):c.6506T>C (p.Ile2169Thr) SNV Uncertain significance 955103 GRCh37: X:153580812-153580812
GRCh38: X:154352444-154352444
171 FLNA NM_001110556.2(FLNA):c.4577G>A (p.Gly1526Glu) SNV Uncertain significance 514543 rs782649462 GRCh37: X:153586834-153586834
GRCh38: X:154358466-154358466
172 FLNA NM_001110556.2(FLNA):c.7001G>T (p.Arg2334Leu) SNV Uncertain significance 959842 GRCh37: X:153579971-153579971
GRCh38: X:154351603-154351603
173 FLNA NM_001110556.2(FLNA):c.4154C>T (p.Thr1385Met) SNV Uncertain significance 963143 GRCh37: X:153587763-153587763
GRCh38: X:154359395-154359395
174 FLNA NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr) SNV Uncertain significance 405449 rs370202395 GRCh37: X:153588640-153588640
GRCh38: X:154360272-154360272
175 overlap with 5 genes NC_000023.10:g.(?_153579929)_(153649363_?)dup Duplication Uncertain significance 584126 GRCh37: X:153579929-153649363
GRCh38:
176 overlap with 5 genes NC_000023.10:g.(?_153577207)_(153650075_?)dup Duplication Uncertain significance 659583 GRCh37: X:153577207-153650075
GRCh38:
177 overlap with 5 genes NC_000023.10:g.(?_153577207)_(153642537_?)dup Duplication Uncertain significance 831079 GRCh37: X:153577207-153642537
GRCh38:
178 FLNA NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn) SNV Uncertain significance 213503 rs375495397 GRCh37: X:153590057-153590057
GRCh38: X:154361689-154361689
179 FLNA NM_001110556.2(FLNA):c.2357C>G (p.Ala786Gly) SNV Uncertain significance 1014193 GRCh37: X:153591076-153591076
GRCh38: X:154362708-154362708
180 FLNA NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys) SNV Uncertain significance 197727 rs797044753 GRCh37: X:153595900-153595900
GRCh38: X:154367532-154367532
181 FLNA NM_001110556.2(FLNA):c.7183C>T (p.Arg2395Trp) SNV Uncertain significance 1014361 GRCh37: X:153578549-153578549
GRCh38: X:154350181-154350181
182 overlap with 5 genes NC_000023.10:g.(?_153579929)_(153649363_?)dup Duplication Uncertain significance 1014944 GRCh37: X:153579929-153649363
GRCh38:
183 FLNA NM_001110556.2(FLNA):c.6991G>A (p.Asp2331Asn) SNV Uncertain significance 1015405 GRCh37: X:153579981-153579981
GRCh38: X:154351613-154351613
184 FLNA NM_001110556.2(FLNA):c.4495G>A (p.Val1499Met) SNV Uncertain significance 1017206 GRCh37: X:153586916-153586916
GRCh38: X:154358548-154358548
185 FLNA NM_001110556.2(FLNA):c.4997T>C (p.Ile1666Thr) SNV Uncertain significance 213508 rs863223639 GRCh37: X:153583413-153583413
GRCh38: X:154355045-154355045
186 FLNA NM_001110556.2(FLNA):c.6766C>T (p.Pro2256Ser) SNV Uncertain significance 1018271 GRCh37: X:153580552-153580552
GRCh38: X:154352184-154352184
187 FLNA NM_001110556.2(FLNA):c.4243A>C (p.Ile1415Leu) SNV Uncertain significance 1018767 GRCh37: X:153587674-153587674
GRCh38: X:154359306-154359306
188 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His) SNV Uncertain significance 1020536 GRCh37: X:153577233-153577233
GRCh38: X:154348865-154348865
189 FLNA NM_001110556.2(FLNA):c.6426G>C (p.Glu2142Asp) SNV Uncertain significance 1020694 GRCh37: X:153580997-153580997
GRCh38: X:154352629-154352629
190 FLNA NM_001110556.2(FLNA):c.4076G>A (p.Arg1359His) SNV Uncertain significance 1020790 GRCh37: X:153587918-153587918
GRCh38: X:154359550-154359550
191 FLNA NM_001110556.2(FLNA):c.3743A>G (p.Gln1248Arg) SNV Uncertain significance 1021029 GRCh37: X:153588420-153588420
GRCh38: X:154360052-154360052
192 FLNA NM_001110556.2(FLNA):c.4260C>T (p.Gly1420=) SNV Uncertain significance 1021946 GRCh37: X:153587657-153587657
GRCh38: X:154359289-154359289
193 FLNA NM_001110556.2(FLNA):c.4400T>G (p.Leu1467Arg) SNV Uncertain significance 1022877 GRCh37: X:153587426-153587426
GRCh38: X:154359058-154359058
194 FLNA NM_001110556.2(FLNA):c.1487G>A (p.Arg496Gln) SNV Uncertain significance 547381 rs782539251 GRCh37: X:153593797-153593797
GRCh38: X:154365429-154365429
195 FLNA NM_001110556.2(FLNA):c.4016C>T (p.Pro1339Leu) SNV Uncertain significance 1023457 GRCh37: X:153587978-153587978
GRCh38: X:154359610-154359610
196 FLNA NM_001110556.2(FLNA):c.477G>C (p.Glu159Asp) SNV Uncertain significance 1024355 GRCh37: X:153596355-153596355
GRCh38: X:154367987-154367987
197 FLNA NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys) SNV Uncertain significance 618132 rs781860863 GRCh37: X:153581289-153581289
GRCh38: X:154352921-154352921
198 FLNA NM_001110556.2(FLNA):c.6937G>A (p.Glu2313Lys) SNV Uncertain significance 585873 rs782129661 GRCh37: X:153580035-153580035
GRCh38: X:154351667-154351667
199 FLNA NM_001110556.2(FLNA):c.302A>G (p.Gln101Arg) SNV Uncertain significance 1026472 GRCh37: X:153599312-153599312
GRCh38: X:154370944-154370944
200 FLNA NM_001110556.2(FLNA):c.2744C>A (p.Thr915Asn) SNV Uncertain significance 239018 rs782045915 GRCh37: X:153590429-153590429
GRCh38: X:154362061-154362061
201 FLNA NM_001110556.2(FLNA):c.2492A>G (p.Asn831Ser) SNV Uncertain significance 405454 rs781846227 GRCh37: X:153590859-153590859
GRCh38: X:154362491-154362491
202 FLNA NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr) SNV Uncertain significance 464986 rs782746289 GRCh37: X:153588009-153588009
GRCh38: X:154359641-154359641
203 FLNA NM_001110556.2(FLNA):c.4475-4C>T SNV Uncertain significance 391832 rs199652065 GRCh37: X:153586940-153586940
GRCh38: X:154358572-154358572
204 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) SNV Uncertain significance 465022 rs782383611 GRCh37: X:153577931-153577931
GRCh38: X:154349563-154349563
205 FLNA NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu) SNV Uncertain significance 533575 rs782434140 GRCh37: X:153594415-153594415
GRCh38: X:154366047-154366047
206 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) SNV Uncertain significance 533587 rs377518545 GRCh37: X:153577748-153577748
GRCh38: X:154349380-154349380
207 FLNA NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) SNV Uncertain significance 211024 rs797045581 GRCh37: X:153580599-153580599
GRCh38: X:154352231-154352231
208 FLNA NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) SNV Uncertain significance 382396 rs373908435 GRCh37: X:153589847-153589847
GRCh38: X:154361479-154361479
209 FLNA NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala) SNV Uncertain significance 498894 rs782289803 GRCh37: X:153578473-153578473
GRCh38: X:154350105-154350105
210 FLNA NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met) SNV Uncertain significance 286707 rs781946802 GRCh37: X:153581548-153581548
GRCh38: X:154353180-154353180
211 FLNA NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) SNV Uncertain significance 211024 rs797045581 GRCh37: X:153580599-153580599
GRCh38: X:154352231-154352231
212 FLNA NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) SNV Uncertain significance 432226 rs1297013254 GRCh37: X:153592416-153592416
GRCh38: X:154364048-154364048
213 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met) SNV Uncertain significance 638848 rs369791082 GRCh37: X:153577315-153577315
GRCh38: X:154348947-154348947
214 FLNA NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His) SNV Uncertain significance 649352 rs782758177 GRCh37: X:153589776-153589776
GRCh38: X:154361408-154361408
215 FLNA NM_001110556.2(FLNA):c.7174T>C (p.Phe2392Leu) SNV Uncertain significance 649832 rs782645927 GRCh37: X:153578558-153578558
GRCh38: X:154350190-154350190
216 FLNA NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) SNV Uncertain significance 211024 rs797045581 GRCh37: X:153580599-153580599
GRCh38: X:154352231-154352231
217 FLNA NM_001110556.2(FLNA):c.4174G>A (p.Val1392Ile) SNV Uncertain significance 651926 rs1603360869 GRCh37: X:153587743-153587743
GRCh38: X:154359375-154359375
218 FLNA NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu) SNV Uncertain significance 652489 rs782310851 GRCh37: X:153579989-153579989
GRCh38: X:154351621-154351621
219 FLNA NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr) SNV Uncertain significance 663326 rs185503240 GRCh37: X:153590652-153590652
GRCh38: X:154362284-154362284
220 FLNA NM_001110556.2(FLNA):c.4916C>T (p.Thr1639Ile) SNV Uncertain significance 839798 GRCh37: X:153585831-153585831
GRCh38: X:154357463-154357463
221 FLNA NM_001110556.2(FLNA):c.2162C>T (p.Ala721Val) SNV Uncertain significance 213464 rs781840723 GRCh37: X:153592508-153592508
GRCh38: X:154364140-154364140
222 FLNA NM_001110556.2(FLNA):c.2617A>C (p.Ser873Arg) SNV Uncertain significance 843679 GRCh37: X:153590649-153590649
GRCh38: X:154362281-154362281
223 FLNA NM_001110556.2(FLNA):c.2659G>A (p.Val887Ile) SNV Uncertain significance 846637 GRCh37: X:153590514-153590514
GRCh38: X:154362146-154362146
224 FLNA NM_001110556.2(FLNA):c.108_110GGA[1] (p.Glu37del) Microsatellite Uncertain significance 849335 GRCh37: X:153599501-153599503
GRCh38: X:154371133-154371135
225 FLNA NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn) SNV Uncertain significance 589927 rs782718606 GRCh37: X:153593022-153593022
GRCh38: X:154364654-154364654
226 FLNA NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) SNV Uncertain significance 432226 rs1297013254 GRCh37: X:153592416-153592416
GRCh38: X:154364048-154364048
227 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile) SNV Uncertain significance 852481 GRCh37: X:153577772-153577772
GRCh38: X:154349404-154349404
228 FLNA NM_001110556.2(FLNA):c.5921A>G (p.Asn1974Ser) SNV Uncertain significance 855541 GRCh37: X:153581765-153581765
GRCh38: X:154353397-154353397
229 FLNA NM_001110556.2(FLNA):c.2473G>A (p.Asp825Asn) SNV Uncertain significance 857624 GRCh37: X:153590878-153590878
GRCh38: X:154362510-154362510
230 FLNA NM_001110556.2(FLNA):c.5714C>T (p.Pro1905Leu) SNV Uncertain significance 595323 rs781794030 GRCh37: X:153582068-153582068
GRCh38: X:154353700-154353700
231 FLNA NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His) SNV Uncertain significance 213484 GRCh37: X:153579298-153579298
GRCh38: X:154350930-154350930
232 FLNA NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr) SNV Uncertain significance 286847 rs886044859 GRCh37: X:153594995-153594995
GRCh38: X:154366627-154366627
233 FLNA NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys) SNV Uncertain significance 492842 rs1557176102 GRCh37: X:153581396-153581396
GRCh38: X:154353028-154353028
234 FLNA NM_001110556.2(FLNA):c.5255T>C (p.Leu1752Pro) SNV Uncertain significance 624458 rs1363194253 GRCh37: X:153583042-153583042
GRCh38: X:154354674-154354674
235 FLNA NM_001110556.2(FLNA):c.2825A>T (p.Gln942Leu) SNV Uncertain significance 934984 GRCh37: X:153590348-153590348
GRCh38: X:154361980-154361980
236 FLNA NM_001110556.2(FLNA):c.620C>A (p.Pro207Gln) SNV Uncertain significance 940228 GRCh37: X:153596212-153596212
GRCh38: X:154367844-154367844
237 FLNA NM_001110556.2(FLNA):c.5054C>G (p.Thr1685Arg) SNV Uncertain significance 946890 GRCh37: X:153583356-153583356
GRCh38: X:154354988-154354988
238 FLNA NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro) SNV Uncertain significance 638389 rs781814342 GRCh37: X:153599594-153599594
GRCh38: X:154371226-154371226
239 FLNA NM_001110556.2(FLNA):c.6373G>A (p.Val2125Met) SNV Uncertain significance 950514 GRCh37: X:153581146-153581146
GRCh38: X:154352778-154352778
240 FLNA NM_001110556.2(FLNA):c.2181C>T (p.Gly727=) SNV Uncertain significance 951434 GRCh37: X:153592489-153592489
GRCh38: X:154364121-154364121
241 FLNA NM_001110556.2(FLNA):c.4710C>A (p.Ile1570=) SNV Uncertain significance 953526 GRCh37: X:153586612-153586612
GRCh38: X:154358244-154358244
242 FLNA NM_001110556.2(FLNA):c.2003A>G (p.Gln668Arg) SNV Uncertain significance 954463 GRCh37: X:153592913-153592913
GRCh38: X:154364545-154364545
243 FLNA NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His) SNV Uncertain significance 957029 GRCh37: X:153581810-153581810
GRCh38: X:154353442-154353442
244 FLNA NM_001110556.2(FLNA):c.4474+3G>A SNV Uncertain significance 959041 GRCh37: X:153587349-153587349
GRCh38: X:154358981-154358981
245 FLNA NM_001110556.2(FLNA):c.1386C>T (p.Gly462=) SNV Uncertain significance 961545 GRCh37: X:153594435-153594435
GRCh38: X:154366067-154366067
246 FLNA NM_001110556.2(FLNA):c.4157G>A (p.Gly1386Asp) SNV Uncertain significance 966767 GRCh37: X:153587760-153587760
GRCh38: X:154359392-154359392
247 FLNA NM_001110556.2(FLNA):c.5139G>A (p.Thr1713=) SNV Uncertain significance 999151 GRCh37: X:153583271-153583271
GRCh38: X:154354903-154354903
248 FLNA NM_001110556.2(FLNA):c.5701G>T (p.Ala1901Ser) SNV Uncertain significance 999558 GRCh37: X:153582081-153582081
GRCh38: X:154353713-154353713
249 FLNA NM_001110556.2(FLNA):c.7526G>A (p.Gly2509Asp) SNV Uncertain significance 999722 GRCh37: X:153578043-153578043
GRCh38: X:154349675-154349675
250 FLNA NM_001110556.2(FLNA):c.3034T>G (p.Ser1012Ala) SNV Uncertain significance 999988 GRCh37: X:153589849-153589849
GRCh38: X:154361481-154361481
251 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn) SNV Uncertain significance 264331 rs782593788 GRCh37: X:153577365-153577365
GRCh38: X:154348997-154348997
252 FLNA NM_001110556.2(FLNA):c.3844G>A (p.Ala1282Thr) SNV Uncertain significance 1001060 GRCh37: X:153588235-153588235
GRCh38: X:154359867-154359867
253 FLNA NM_001110556.2(FLNA):c.4243A>G (p.Ile1415Val) SNV Uncertain significance 1001969 GRCh37: X:153587674-153587674
GRCh38: X:154359306-154359306
254 FLNA NM_001110556.2(FLNA):c.1713C>T (p.Gly571=) SNV Uncertain significance 1002188 GRCh37: X:153593304-153593304
GRCh38: X:154364936-154364936
255 FLNA NM_001110556.2(FLNA):c.182G>A (p.Ser61Asn) SNV Uncertain significance 1002985 GRCh37: X:153599432-153599432
GRCh38: X:154371064-154371064
256 FLNA NM_001110556.2(FLNA):c.5537A>G (p.Tyr1846Cys) SNV Uncertain significance 1003100 GRCh37: X:153582539-153582539
GRCh38: X:154354171-154354171
257 FLNA NM_001110556.2(FLNA):c.4388T>C (p.Val1463Ala) SNV Uncertain significance 1003173 GRCh37: X:153587438-153587438
GRCh38: X:154359070-154359070
258 FLNA NM_001110556.2(FLNA):c.1009G>A (p.Asp337Asn) SNV Uncertain significance 1003574 GRCh37: X:153594986-153594986
GRCh38: X:154366618-154366618
259 FLNA NM_001110556.2(FLNA):c.5866G>A (p.Asp1956Asn) SNV Uncertain significance 1004177 GRCh37: X:153581820-153581820
GRCh38: X:154353452-154353452
260 FLNA NM_001110556.2(FLNA):c.19C>G (p.Arg7Gly) SNV Uncertain significance 1004242 GRCh37: X:153599595-153599595
GRCh38: X:154371227-154371227
261 FLNA NM_001110556.2(FLNA):c.1692-3C>T SNV Uncertain significance 1005239 GRCh37: X:153593328-153593328
GRCh38: X:154364960-154364960
262 FLNA NM_001110556.2(FLNA):c.4588G>A (p.Val1530Ile) SNV Uncertain significance 1005827 GRCh37: X:153586823-153586823
GRCh38: X:154358455-154358455
263 FLNA NM_001110556.2(FLNA):c.1141G>A (p.Ala381Thr) SNV Uncertain significance 1006255 GRCh37: X:153594763-153594763
GRCh38: X:154366395-154366395
264 FLNA NM_001110556.2(FLNA):c.4369G>A (p.Gly1457Ser) SNV Uncertain significance 452477 rs374447840 GRCh37: X:153587457-153587457
GRCh38: X:154359089-154359089
265 FLNA NM_001110556.2(FLNA):c.720+5A>T SNV Uncertain significance 1006270 GRCh37: X:153596004-153596004
GRCh38: X:154367636-154367636
266 FLNA NM_001110556.2(FLNA):c.7165G>A (p.Ala2389Thr) SNV Uncertain significance 1006629 GRCh37: X:153578567-153578567
GRCh38: X:154350199-154350199
267 FLNA NM_001110556.2(FLNA):c.623-10T>A SNV Uncertain significance 1006865 GRCh37: X:153596116-153596116
GRCh38: X:154367748-154367748
268 FLNA NM_001110556.2(FLNA):c.2993C>T (p.Ala998Val) SNV Uncertain significance 1007043 GRCh37: X:153589890-153589890
GRCh38: X:154361522-154361522
269 FLNA NM_001110556.2(FLNA):c.3893C>T (p.Ala1298Val) SNV Uncertain significance 1007856 GRCh37: X:153588186-153588186
GRCh38: X:154359818-154359818
270 FLNA NM_001110556.2(FLNA):c.3561C>T (p.Ser1187=) SNV Uncertain significance 514646 rs1396701849 GRCh37: X:153588602-153588602
GRCh38: X:154360234-154360234
271 FLNA NM_001110556.2(FLNA):c.622+6G>A SNV Uncertain significance 1008135 GRCh37: X:153596204-153596204
GRCh38: X:154367836-154367836
272 FLNA NM_001110556.2(FLNA):c.720+4C>T SNV Uncertain significance 1008351 GRCh37: X:153596005-153596005
GRCh38: X:154367637-154367637
273 FLNA NM_001110556.2(FLNA):c.2943G>C (p.Glu981Asp) SNV Uncertain significance 1008867 GRCh37: X:153590039-153590039
GRCh38: X:154361671-154361671
274 FLNA NM_001110556.2(FLNA):c.5416+5G>A SNV Uncertain significance 1008970 GRCh37: X:153582744-153582744
GRCh38: X:154354376-154354376
275 FLNA NM_001110556.2(FLNA):c.2032C>T (p.Arg678Cys) SNV Uncertain significance 432883 rs1380007907 GRCh37: X:153592731-153592731
GRCh38: X:154364363-154364363
276 FLNA NM_001110556.2(FLNA):c.5426G>A (p.Arg1809Gln) SNV Uncertain significance 452980 rs782134110 GRCh37: X:153582650-153582650
GRCh38: X:154354282-154354282
277 FLNA NM_001110556.2(FLNA):c.5261C>T (p.Ser1754Phe) SNV Uncertain significance 519887 rs1557176515 GRCh37: X:153583036-153583036
GRCh38: X:154354668-154354668
278 FLNA NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile) SNV Uncertain significance 547384 rs782412141 GRCh37: X:153588154-153588154
GRCh38: X:154359786-154359786
279 FLNA NM_001110556.2(FLNA):c.5134T>C (p.Tyr1712His) SNV Uncertain significance 1009825 GRCh37: X:153583276-153583276
GRCh38: X:154354908-154354908
280 FLNA NM_001110556.2(FLNA):c.70C>G (p.Arg24Gly) SNV Uncertain significance 638442 rs1164930154 GRCh37: X:153599544-153599544
GRCh38: X:154371176-154371176
281 FLNA NM_001110556.2(FLNA):c.5054C>T (p.Thr1685Met) SNV Uncertain significance 1009935 GRCh37: X:153583356-153583356
GRCh38: X:154354988-154354988
282 FLNA NM_001110556.2(FLNA):c.5966C>T (p.Pro1989Leu) SNV Uncertain significance 1011539 GRCh37: X:153581720-153581720
GRCh38: X:154353352-154353352
283 FLNA NM_001110556.2(FLNA):c.4183C>T (p.Pro1395Ser) SNV Uncertain significance 1011642 GRCh37: X:153587734-153587734
GRCh38: X:154359366-154359366
284 FLNA NM_001110556.2(FLNA):c.2219C>T (p.Pro740Leu) SNV Uncertain significance 1011770 GRCh37: X:153592451-153592451
GRCh38: X:154364083-154364083
285 FLNA NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) SNV Uncertain significance 1011953 GRCh37: X:153591041-153591041
GRCh38: X:154362673-154362673
286 FLNA NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) SNV Uncertain significance 198133 rs192609440 GRCh37: X:153595186-153595186
GRCh38: X:154366818-154366818
287 FLNA NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) SNV Uncertain significance 465015 rs782275601 GRCh37: X:153580296-153580296
GRCh38: X:154351928-154351928
288 FLNA NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) SNV Uncertain significance 391884 rs782598729 GRCh37: X:153599549-153599549
GRCh38: X:154371181-154371181
289 FLNA NM_001110556.2(FLNA):c.6220G>A (p.Asp2074Asn) SNV Uncertain significance 533579 rs371611462 GRCh37: X:153581375-153581375
GRCh38: X:154353007-154353007
290 FLNA NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly) SNV Uncertain significance 533584 rs953454766 GRCh37: X:153580590-153580590
GRCh38: X:154352222-154352222
291 FLNA NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) SNV Uncertain significance 465015 rs782275601 GRCh37: X:153580296-153580296
GRCh38: X:154351928-154351928
292 FLNA NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) SNV Uncertain significance 198133 rs192609440 GRCh37: X:153595186-153595186
GRCh38: X:154366818-154366818
293 FLNA NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu) SNV Uncertain significance 653062 rs1603362453 GRCh37: X:153593221-153593221
GRCh38: X:154364853-154364853
294 FLNA NM_001110556.2(FLNA):c.1991G>A (p.Arg664His) SNV Uncertain significance 654219 rs1271495778 GRCh37: X:153592925-153592925
GRCh38: X:154364557-154364557
295 FLNA NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr) SNV Uncertain significance 658173 rs781805670 GRCh37: X:153594808-153594808
GRCh38: X:154366440-154366440
296 FLNA NM_001110556.2(FLNA):c.2281-3C>A SNV Uncertain significance 663312 rs1603361933 GRCh37: X:153591155-153591155
GRCh38: X:154362787-154362787
297 FLNA NM_001110556.2(FLNA):c.76G>A (p.Ala26Thr) SNV Uncertain significance 519883 rs886038966 GRCh37: X:153599538-153599538
GRCh38: X:154371170-154371170
298 FLNA NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu) SNV Uncertain significance 836599 GRCh37: X:153582847-153582847
GRCh38: X:154354479-154354479
299 FLNA NM_001110556.2(FLNA):c.4303+7_4303+9del Microsatellite Uncertain significance 837559 GRCh37: X:153587605-153587607
GRCh38: X:154359237-154359239
300 FLNA NM_001110556.2(FLNA):c.3767C>A (p.Ser1256Tyr) SNV Uncertain significance 840079 GRCh37: X:153588396-153588396
GRCh38: X:154360028-154360028
301 FLNA NM_001110556.2(FLNA):c.6998G>A (p.Arg2333His) SNV Uncertain significance 512604 rs377274096 GRCh37: X:153579974-153579974
GRCh38: X:154351606-154351606
302 FLNA NM_001110556.2(FLNA):c.2858G>A (p.Gly953Glu) SNV Uncertain significance 840640 GRCh37: X:153590124-153590124
GRCh38: X:154361756-154361756
303 FLNA NM_001110556.2(FLNA):c.6178G>T (p.Gly2060Cys) SNV Uncertain significance 843509 GRCh37: X:153581417-153581417
GRCh38: X:154353049-154353049
304 FLNA NM_001110556.2(FLNA):c.5659A>G (p.Thr1887Ala) SNV Uncertain significance 264261 rs886039107 GRCh37: X:153582310-153582310
GRCh38: X:154353942-154353942
305 FLNA NM_001110556.2(FLNA):c.1633A>G (p.Met545Val) SNV Uncertain significance 847250 GRCh37: X:153593562-153593562
GRCh38: X:154365194-154365194
306 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His) SNV Uncertain significance 855746 GRCh37: X:153577927-153577927
GRCh38: X:154349559-154349559
307 FLNA NM_001110556.2(FLNA):c.1609G>C (p.Val537Leu) SNV Uncertain significance 933890 GRCh37: X:153593586-153593586
GRCh38: X:154365218-154365218
308 FLNA NM_001110556.2(FLNA):c.95A>G (p.Glu32Gly) SNV Uncertain significance 934662 GRCh37: X:153599519-153599519
GRCh38: X:154371151-154371151
309 FLNA NM_001110556.2(FLNA):c.5416+6T>G SNV Uncertain significance 935454 GRCh37: X:153582743-153582743
GRCh38: X:154354375-154354375
310 FLNA NM_001110556.2(FLNA):c.3299T>G (p.Leu1100Arg) SNV Uncertain significance 936247 GRCh37: X:153588864-153588864
GRCh38: X:154360496-154360496
311 FLNA NM_001110556.2(FLNA):c.1376C>A (p.Thr459Lys) SNV Uncertain significance 936930 GRCh37: X:153594445-153594445
GRCh38: X:154366077-154366077
312 FLNA NM_001110556.2(FLNA):c.3677C>T (p.Pro1226Leu) SNV Uncertain significance 948740 GRCh37: X:153588486-153588486
GRCh38: X:154360118-154360118
313 FLNA NM_001110556.2(FLNA):c.2170A>G (p.Lys724Glu) SNV Uncertain significance 954230 GRCh37: X:153592500-153592500
GRCh38: X:154364132-154364132
314 FLNA NM_001110556.2(FLNA):c.7450C>A (p.Arg2484Ser) SNV Uncertain significance 955930 GRCh37: X:153578119-153578119
GRCh38: X:154349751-154349751
315 FLNA NM_001110556.2(FLNA):c.5161G>A (p.Val1721Ile) SNV Uncertain significance 957033 GRCh37: X:153583249-153583249
GRCh38: X:154354881-154354881
316 FLNA NM_001110556.2(FLNA):c.6079G>A (p.Gly2027Ser) SNV Uncertain significance 963022 GRCh37: X:153581516-153581516
GRCh38: X:154353148-154353148
317 FLNA NM_001110556.2(FLNA):c.7519A>G (p.Ile2507Val) SNV Uncertain significance 519888 rs971390304 GRCh37: X:153578050-153578050
GRCh38: X:154349682-154349682
318 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg) SNV Uncertain significance 964481 GRCh37: X:153577299-153577299
GRCh38: X:154348931-154348931
319 FLNA NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile) SNV Uncertain significance 931380 GRCh37: X:153588472-153588472
GRCh38: X:154360104-154360104
320 FLNA NM_001110556.2(FLNA):c.2361C>G (p.His787Gln) SNV Uncertain significance 213465 rs863223620 GRCh37: X:153591072-153591072
GRCh38: X:154362704-154362704
321 FLNA NM_001110556.2(FLNA):c.1429+8C>T SNV Uncertain significance 93750 rs202181557 GRCh37: X:153594384-153594384
GRCh38: X:154366016-154366016
322 FLNA NM_001110556.2(FLNA):c.2023-6C>T SNV Uncertain significance 190186 rs372021340 GRCh37: X:153592746-153592746
GRCh38: X:154364378-154364378
323 FLNA NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) SNV Uncertain significance 190193 rs377390031 GRCh37: X:153587934-153587934
GRCh38: X:154359566-154359566
324 FLNA NM_001110556.2(FLNA):c.3092T>C (p.Val1031Ala) SNV Uncertain significance 996944 GRCh37: X:153589791-153589791
GRCh38: X:154361423-154361423
325 ARFGEF2 NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) SNV Uncertain significance 128433 rs73113975 GRCh37: 20:47558417-47558417
GRCh38: 20:48941880-48941880
326 ARFGEF2 NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) SNV Uncertain significance 128445 rs149172723 GRCh37: 20:47570296-47570296
GRCh38: 20:48953759-48953759
327 ARFGEF2 NM_006420.3(ARFGEF2):c.1425+15G>A SNV Uncertain significance 338688 rs374522450 GRCh37: 20:47587906-47587906
GRCh38: 20:48971369-48971369
328 ARFGEF2 NM_006420.3(ARFGEF2):c.1275C>T (p.His425=) SNV Uncertain significance 128427 rs117131028 GRCh37: 20:47587741-47587741
GRCh38: 20:48971204-48971204
329 ARFGEF2 NM_006420.3(ARFGEF2):c.-43G>A SNV Uncertain significance 338679 rs370864802 GRCh37: 20:47538384-47538384
GRCh38: 20:48921847-48921847
330 FLNA NM_001110556.2(FLNA):c.6568A>C (p.Ile2190Leu) SNV Uncertain significance 664774 rs1603359155 GRCh37: X:153580750-153580750
GRCh38: X:154352382-154352382
331 FLNA NM_001110556.2(FLNA):c.5009C>T (p.Thr1670Met) SNV Uncertain significance 664842 rs1381802174 GRCh37: X:153583401-153583401
GRCh38: X:154355033-154355033
332 FLNA NM_001110556.2(FLNA):c.714C>G (p.Ile238Met) SNV Uncertain significance 575170 rs1557179587 GRCh37: X:153596015-153596015
GRCh38: X:154367647-154367647
333 FLNA NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp) SNV Uncertain significance 659727 rs868994092 GRCh37: X:153593798-153593798
GRCh38: X:154365430-154365430
334 FLNA NM_001110556.2(FLNA):c.3514C>G (p.Arg1172Gly) SNV Uncertain significance 660488 rs1557177743 GRCh37: X:153588649-153588649
GRCh38: X:154360281-154360281
335 FLNA NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) SNV Uncertain significance 661868 rs1603362434 GRCh37: X:153593194-153593194
GRCh38: X:154364826-154364826
336 FLNA NM_001110556.2(FLNA):c.2233G>T (p.Ala745Ser) SNV Uncertain significance 662040 rs1336740117 GRCh37: X:153592437-153592437
GRCh38: X:154364069-154364069
337 FLNA NM_001110556.2(FLNA):c.826C>T (p.Arg276Trp) SNV Uncertain significance 575979 rs1172505050 GRCh37: X:153595807-153595807
GRCh38: X:154367439-154367439
338 FLNA NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser) SNV Uncertain significance 577159 rs1276647740 GRCh37: X:153580383-153580383
GRCh38: X:154352015-154352015
339 FLNA NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly) SNV Uncertain significance 435205 rs370277156 GRCh37: X:153581212-153581212
GRCh38: X:154352844-154352844
340 FLNA NM_001110556.2(FLNA):c.196A>T (p.Asn66Tyr) SNV Uncertain significance 577736 rs1569551926 GRCh37: X:153599418-153599418
GRCh38: X:154371050-154371050
341 FLNA NM_001110556.2(FLNA):c.34G>T (p.Ala12Ser) SNV Uncertain significance 579460 rs868975259 GRCh37: X:153599580-153599580
GRCh38: X:154371212-154371212
342 FLNA NM_001110556.2(FLNA):c.487G>A (p.Ala163Thr) SNV Uncertain significance 579682 rs1569551875 GRCh37: X:153596345-153596345
GRCh38: X:154367977-154367977
343 FLNA NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys) SNV Uncertain significance 579753 rs1405780478 GRCh37: X:153580753-153580753
GRCh38: X:154352385-154352385
344 FLNA NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) SNV Uncertain significance 422764 rs782563602 GRCh37: X:153592952-153592952
GRCh38: X:154364584-154364584
345 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) SNV Uncertain significance 213511 rs200836471 GRCh37: X:153577234-153577234
GRCh38: X:154348866-154348866
346 ARFGEF2 NM_006420.3(ARFGEF2):c.2686-9C>T SNV Uncertain significance 128434 rs200945599 GRCh37: 20:47606084-47606084
GRCh38: 20:48989547-48989547
347 ARFGEF2 NM_006420.3(ARFGEF2):c.3046G>C (p.Gly1016Arg) SNV Uncertain significance 338695 rs149644732 GRCh37: 20:47611060-47611060
GRCh38: 20:48994523-48994523
348 ARFGEF2 NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala) SNV Uncertain significance 128446 rs143570842 GRCh37: 20:47570300-47570300
GRCh38: 20:48953763-48953763
349 ARFGEF2 NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile) SNV Uncertain significance 210228 rs146772848 GRCh37: 20:47592666-47592666
GRCh38: 20:48976129-48976129
350 ARFGEF2 NM_006420.3(ARFGEF2):c.2815-7G>A SNV Uncertain significance 128435 rs187176143 GRCh37: 20:47607570-47607570
GRCh38: 20:48991033-48991033
351 ARFGEF2 NM_006420.3(ARFGEF2):c.3177G>A (p.Ser1059=) SNV Uncertain significance 128436 rs61748373 GRCh37: 20:47612375-47612375
GRCh38: 20:48995838-48995838
352 ARFGEF2 NM_006420.3(ARFGEF2):c.847G>A (p.Asp283Asn) SNV Uncertain significance 338682 rs372150935 GRCh37: 20:47580375-47580375
GRCh38: 20:48963838-48963838
353 FLNA NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) SNV Uncertain significance 213502 rs374130804 GRCh37: X:153590941-153590941
GRCh38: X:154362573-154362573
354 FLNA NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn) SNV Uncertain significance 213448 rs863223617 GRCh37: X:153587499-153587499
GRCh38: X:154359131-154359131
355 FLNA NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys) SNV Uncertain significance 213521 rs743546 GRCh37: X:153593574-153593574
GRCh38: X:154365206-154365206
356 FLNA NM_001110556.2(FLNA):c.1366G>A (p.Val456Met) SNV Uncertain significance 213519 rs782495199 GRCh37: X:153594455-153594455
GRCh38: X:154366087-154366087
357 FLNA NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met) SNV Uncertain significance 423675 rs781827791 GRCh37: X:153594681-153594681
GRCh38: X:154366313-154366313
358 FLNA NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=) SNV Uncertain significance 382810 rs373103712 GRCh37: X:153578180-153578180
GRCh38: X:154349812-154349812
359 FLNA NM_001110556.2(FLNA):c.6107C>T (p.Pro2036Leu) SNV Uncertain significance 465007 rs1557176131 GRCh37: X:153581488-153581488
GRCh38: X:154353120-154353120
360 FLNA NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp) SNV Uncertain significance 464979 rs190437842 GRCh37: X:153590382-153590382
GRCh38: X:154362014-154362014
361 FLNA NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn) SNV Uncertain significance 464999 rs1557179655 GRCh37: X:153596295-153596295
GRCh38: X:154367927-154367927
362 FLNA NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser) SNV Uncertain significance 464985 rs781896277 GRCh37: X:153588394-153588394
GRCh38: X:154360026-154360026
363 FLNA NM_001110556.2(FLNA):c.3455C>T (p.Ala1152Val) SNV Uncertain significance 533578 rs1557177751 GRCh37: X:153588708-153588708
GRCh38: X:154360340-154360340
364 FLNA NM_001110556.2(FLNA):c.6320G>C (p.Cys2107Ser) SNV Uncertain significance 533580 rs1557176052 GRCh37: X:153581199-153581199
GRCh38: X:154352831-154352831
365 FLNA NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys) SNV Uncertain significance 533581 rs1187268269 GRCh37: X:153589771-153589771
GRCh38: X:154361403-154361403
366 FLNA NM_001110556.2(FLNA):c.7043A>G (p.Asn2348Ser) SNV Uncertain significance 533583 rs1557175657 GRCh37: X:153579390-153579390
GRCh38: X:154351022-154351022
367 FLNA NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe) SNV Uncertain significance 533567 rs1557175646 GRCh37: X:153579378-153579378
GRCh38: X:154351010-154351010
368 FLNA NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys) SNV Uncertain significance 533568 rs1557178932 GRCh37: X:153593582-153593582
GRCh38: X:154365214-154365214
369 FLNA NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His) SNV Uncertain significance 533569 rs1557177627 GRCh37: X:153588218-153588218
GRCh38: X:154359850-154359850
370 FLNA NM_001110556.2(FLNA):c.6973G>A (p.Val2325Met) SNV Uncertain significance 533570 rs1557175818 GRCh37: X:153579999-153579999
GRCh38: X:154351631-154351631
371 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) SNV Uncertain significance 533571 rs782341270 GRCh37: X:153577261-153577261
GRCh38: X:154348893-154348893
372 FLNA NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys) SNV Uncertain significance 533572 rs1557178045 GRCh37: X:153589918-153589918
GRCh38: X:154361550-154361550
373 FLNA NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp) SNV Uncertain significance 533576 rs941318584 GRCh37: X:153599595-153599595
GRCh38: X:154371227-154371227
374 FLNA NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) SNV Uncertain significance 211017 rs797045579 GRCh37: X:153586894-153586894
GRCh38: X:154358526-154358526
375 FLNA NM_001110556.2(FLNA):c.4721_4732del (p.Asp1574_Glu1577del) Deletion Uncertain significance 464995 rs1557177229 GRCh37: X:153586590-153586601
GRCh38: X:154358222-154358233
376 FLNA NM_001110556.2(FLNA):c.338T>C (p.Phe113Ser) SNV Uncertain significance 464982 rs1557180178 GRCh37: X:153599276-153599276
GRCh38: X:154370908-154370908
377 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs) Deletion Uncertain significance 465025 rs1557175175 GRCh37: X:153577341-153577344
GRCh38: X:154348973-154348976
378 FLNA NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) SNV Uncertain significance 464984 rs1557177690 GRCh37: X:153588493-153588493
GRCh38: X:154360125-154360125
379 FLNA NM_001110556.2(FLNA):c.7544A>G (p.Lys2515Arg) SNV Uncertain significance 465021 rs782442409 GRCh37: X:153578025-153578025
GRCh38: X:154349657-154349657
380 FLNA NM_001110556.2(FLNA):c.2254_2268delinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal) Indel Uncertain significance 464977 rs863223631 GRCh37: X:153592402-153592416
GRCh38: X:154364034-154364048
381 FLNA NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn) SNV Uncertain significance 465020 rs909387820 GRCh37: X:153578106-153578106
GRCh38: X:154349738-154349738
382 FLNA NM_001110556.2(FLNA):c.4424C>T (p.Thr1475Ile) SNV Uncertain significance 464991 rs1557177388 GRCh37: X:153587402-153587402
GRCh38: X:154359034-154359034
383 FLNA NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu) SNV Uncertain significance 465010 rs968230475 GRCh37: X:153581251-153581251
GRCh38: X:154352883-154352883
384 FLNA NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) SNV Uncertain significance 464980 rs1557178134 GRCh37: X:153590381-153590381
GRCh38: X:154362013-154362013
385 FLNA NM_001110556.2(FLNA):c.464G>C (p.Trp155Ser) SNV Uncertain significance 464994 rs1557179668 GRCh37: X:153596368-153596368
GRCh38: X:154368000-154368000
386 FLNA NM_001110556.2(FLNA):c.1365C>A (p.Thr455=) SNV Uncertain significance 464973 rs782726997 GRCh37: X:153594456-153594456
GRCh38: X:154366088-154366088
387 FLNA NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp) SNV Uncertain significance 465012 rs782761341 GRCh37: X:153581008-153581008
GRCh38: X:154352640-154352640
388 FLNA NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) SNV Uncertain significance 464975 rs782765195 GRCh37: X:153593742-153593742
GRCh38: X:154365374-154365374
389 FLNA NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser) SNV Uncertain significance 405442 rs782549964 GRCh37: X:153582072-153582072
GRCh38: X:154353704-154353704
390 FLNA NM_001110556.2(FLNA):c.2319A>T (p.Lys773Asn) SNV Uncertain significance 405450 rs1060500719 GRCh37: X:153591114-153591114
GRCh38: X:154362746-154362746
391 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr) SNV Uncertain significance 405458 rs1060500721 GRCh37: X:153577359-153577359
GRCh38: X:154348991-154348991
392 FLNA NM_001110556.2(FLNA):c.3416T>G (p.Leu1139Arg) SNV Uncertain significance 464983 rs782633080 GRCh37: X:153588747-153588747
GRCh38: X:154360379-154360379
393 FLNA NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) SNV Uncertain significance 464974 rs1557179001 GRCh37: X:153593805-153593805
GRCh38: X:154365437-154365437
394 FLNA NM_001110556.2(FLNA):c.3286G>A (p.Gly1096Ser) SNV Uncertain significance 405453 rs782149159 GRCh37: X:153588877-153588877
GRCh38: X:154360509-154360509
395 FLNA NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu) SNV Uncertain significance 405457 rs371600068 GRCh37: X:153595185-153595185
GRCh38: X:154366817-154366817
396 FLNA NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys) SNV Uncertain significance 405455 rs369768801 GRCh37: X:153587919-153587919
GRCh38: X:154359551-154359551
397 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del) Deletion Uncertain significance 405443 rs1060500715 GRCh37: X:153577227-153577229
GRCh38: X:154348859-154348861
398 FLNA NM_001110556.2(FLNA):c.1582G>C (p.Val528Leu) SNV Uncertain significance 405451 rs143873938 GRCh37: X:153593613-153593613
GRCh38: X:154365245-154365245
399 FLNA NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met) SNV Uncertain significance 213466 rs782180774 GRCh37: X:153590360-153590360
GRCh38: X:154361992-154361992
400 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr) SNV Uncertain significance 405452 rs1060500720 GRCh37: X:153577826-153577826
GRCh38: X:154349458-154349458
401 FLNA NM_001110556.2(FLNA):c.6409G>A (p.Glu2137Lys) SNV Uncertain significance 968150 GRCh37: X:153581014-153581014
GRCh38: X:154352646-154352646
402 FLNA NM_001110556.2(FLNA):c.2543T>C (p.Ile848Thr) SNV Uncertain significance 968470 GRCh37: X:153590808-153590808
GRCh38: X:154362440-154362440
403 FLNA NM_001110556.2(FLNA):c.1654G>A (p.Val552Ile) SNV Uncertain significance 213462 rs863223619 GRCh37: X:153593541-153593541
GRCh38: X:154365173-154365173
404 FLNA NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn) SNV Uncertain significance 971995 GRCh37: X:153586611-153586611
GRCh38: X:154358243-154358243
405 FLNA NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) SNV Uncertain significance 190185 rs782193139 GRCh37: X:153593066-153593066
GRCh38: X:154364698-154364698
406 FLNA NM_001110556.2(FLNA):c.7195G>A (p.Val2399Ile) SNV Uncertain significance 239023 rs878854463 GRCh37: X:153578537-153578537
GRCh38: X:154350169-154350169
407 FLNA NM_001110556.2(FLNA):c.7394C>T (p.Thr2465Ile) SNV Uncertain significance 239024 rs878854464 GRCh37: X:153578175-153578175
GRCh38: X:154349807-154349807
408 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile) SNV Uncertain significance 533563 rs1557175110 GRCh37: X:153577242-153577242
GRCh38: X:154348874-154348874
409 FLNA NM_001110556.2(FLNA):c.3611C>T (p.Pro1204Leu) SNV Uncertain significance 533565 rs376726422 GRCh37: X:153588552-153588552
GRCh38: X:154360184-154360184
410 FLNA NM_001110556.2(FLNA):c.410T>A (p.Ile137Asn) SNV Uncertain significance 574247 rs1569551877 GRCh37: X:153596422-153596422
GRCh38: X:154368054-154368054
411 FLNA NM_001110556.2(FLNA):c.959T>G (p.Val320Gly) SNV Uncertain significance 574838 rs1064816 GRCh37: X:153595128-153595128
GRCh38: X:154366760-154366760
412 FLNA NM_001110556.2(FLNA):c.2483G>C (p.Arg828Pro) SNV Uncertain significance 533586 rs1347740802 GRCh37: X:153590868-153590868
GRCh38: X:154362500-154362500
413 FLNA NC_000023.10:g.(?_153577197)_(153579429_?)dup Duplication Uncertain significance 533608 GRCh37: X:153577197-153579429
GRCh38:
414 FLNA NM_001110556.2(FLNA):c.546G>C (p.Gln182His) SNV Uncertain significance 548502 rs1557179648 GRCh37: X:153596286-153596286
GRCh38: X:154367918-154367918
415 FLNA NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) SNV Uncertain significance 190185 rs782193139 GRCh37: X:153593066-153593066
GRCh38: X:154364698-154364698
416 FLNA NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser) SNV Uncertain significance 565416 rs782682232 GRCh37: X:153593846-153593846
GRCh38: X:154365478-154365478
417 FLNA NM_001110556.2(FLNA):c.3647C>T (p.Thr1216Met) SNV Uncertain significance 565860 rs781861717 GRCh37: X:153588516-153588516
GRCh38: X:154360148-154360148
418 FLNA NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) SNV Uncertain significance 435203 rs781984274 GRCh37: X:153580593-153580593
GRCh38: X:154352225-154352225
419 FLNA NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn) SNV Uncertain significance 566013 rs1557177584 GRCh37: X:153588139-153588139
GRCh38: X:154359771-154359771
420 FLNA NM_001110556.2(FLNA):c.4696G>A (p.Val1566Met) SNV Uncertain significance 566852 rs1181500076 GRCh37: X:153586626-153586626
GRCh38: X:154358258-154358258
421 FLNA NM_001110556.2(FLNA):c.7388C>T (p.Ser2463Leu) SNV Uncertain significance 566993 rs1460574102 GRCh37: X:153578181-153578181
GRCh38: X:154349813-154349813
422 FLNA NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val) SNV Uncertain significance 567142 rs1382817700 GRCh37: X:153583377-153583377
GRCh38: X:154355009-154355009
423 FLNA NM_001110556.2(FLNA):c.7210G>A (p.Val2404Ile) SNV Uncertain significance 567511 rs782811927 GRCh37: X:153578522-153578522
GRCh38: X:154350154-154350154
424 FLNA NM_001110556.2(FLNA):c.2483G>A (p.Arg828His) SNV Uncertain significance 567520 rs1347740802 GRCh37: X:153590868-153590868
GRCh38: X:154362500-154362500
425 FLNA NM_001110556.2(FLNA):c.77C>T (p.Ala26Val) SNV Uncertain significance 567888 rs782637786 GRCh37: X:153599537-153599537
GRCh38: X:154371169-154371169
426 FLNA NM_001110556.2(FLNA):c.5978G>C (p.Arg1993Pro) SNV Uncertain significance 568704 rs782401919 GRCh37: X:153581708-153581708
GRCh38: X:154353340-154353340
427 FLNA NM_001110556.2(FLNA):c.6269T>C (p.Val2090Ala) SNV Uncertain significance 570169 rs1569551477 GRCh37: X:153581250-153581250
GRCh38: X:154352882-154352882
428 FLNA NM_001110556.2(FLNA):c.4018G>A (p.Val1340Met) SNV Uncertain significance 570338 rs782342052 GRCh37: X:153587976-153587976
GRCh38: X:154359608-154359608
429 FLNA NM_001110556.2(FLNA):c.7157A>G (p.Asp2386Gly) SNV Uncertain significance 570374 rs371563857 GRCh37: X:153578575-153578575
GRCh38: X:154350207-154350207
430 FLNA NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu) SNV Uncertain significance 570943 rs782359458 GRCh37: X:153581996-153581996
GRCh38: X:154353628-154353628
431 FLNA NM_001110556.2(FLNA):c.1319G>C (p.Ser440Thr) SNV Uncertain significance 571446 rs782649138 GRCh37: X:153594502-153594502
GRCh38: X:154366134-154366134
432 FLNA NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) SNV Uncertain significance 211011 rs782791907 GRCh37: X:153594449-153594449
GRCh38: X:154366081-154366081
433 FLNA NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu) SNV Uncertain significance 572007 rs782451202 GRCh37: X:153590151-153590151
GRCh38: X:154361783-154361783
434 FLNA NM_001110556.2(FLNA):c.3979+5G>A SNV Uncertain significance 572412 rs1569551642 GRCh37: X:153588095-153588095
GRCh38: X:154359727-154359727
435 FLNA NM_001110556.2(FLNA):c.168C>G (p.His56Gln) SNV Uncertain significance 573049 rs1569551928 GRCh37: X:153599446-153599446
GRCh38: X:154371078-154371078
436 FLNA NM_001110556.2(FLNA):c.1958A>G (p.Asp653Gly) SNV Uncertain significance 573649 rs1249111377 GRCh37: X:153592958-153592958
GRCh38: X:154364590-154364590
437 FLNA NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) SNV Uncertain significance 573752 rs1569551930 GRCh37: X:153599489-153599489
GRCh38: X:154371121-154371121
438 FLNA NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) SNV Uncertain significance 435209 rs782240483 GRCh37: X:153596371-153596371
GRCh38: X:154368003-154368003
439 FLNA NM_001110556.2(FLNA):c.4544G>A (p.Arg1515Gln) SNV Uncertain significance 649109 rs782597696 GRCh37: X:153586867-153586867
GRCh38: X:154358499-154358499
440 FLNA NM_001110556.2(FLNA):c.6316T>C (p.Tyr2106His) SNV Uncertain significance 649285 rs377052615 GRCh37: X:153581203-153581203
GRCh38: X:154352835-154352835
441 FLNA NM_001110556.2(FLNA):c.2764G>C (p.Asp922His) SNV Uncertain significance 649948 rs1557178146 GRCh37: X:153590409-153590409
GRCh38: X:154362041-154362041
442 FLNA NM_001110556.2(FLNA):c.5875C>T (p.Arg1959Cys) SNV Uncertain significance 650291 rs10458342 GRCh37: X:153581811-153581811
GRCh38: X:154353443-154353443
443 FLNA NM_001110556.2(FLNA):c.61G>T (p.Val21Phe) SNV Uncertain significance 651279 rs1223954254 GRCh37: X:153599553-153599553
GRCh38: X:154371185-154371185
444 FLNA NM_001110556.2(FLNA):c.70C>T (p.Arg24Trp) SNV Uncertain significance 652015 rs1164930154 GRCh37: X:153599544-153599544
GRCh38: X:154371176-154371176
445 FLNA NM_001110556.2(FLNA):c.3337G>A (p.Glu1113Lys) SNV Uncertain significance 652815 rs1222602089 GRCh37: X:153588826-153588826
GRCh38: X:154360458-154360458
446 FLNA NM_001110556.2(FLNA):c.619C>T (p.Pro207Ser) SNV Uncertain significance 652826 rs1603363256 GRCh37: X:153596213-153596213
GRCh38: X:154367845-154367845
447 FLNA NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser) SNV Uncertain significance 652871 rs1557175387 GRCh37: X:153578188-153578188
GRCh38: X:154349820-154349820
448 FLNA NM_001110556.2(FLNA):c.4343C>T (p.Ala1448Val) SNV Uncertain significance 653147 rs201886752 GRCh37: X:153587483-153587483
GRCh38: X:154359115-154359115
449 FLNA NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu) SNV Uncertain significance 519894 rs1557176627 GRCh37: X:153583283-153583283
GRCh38: X:154354915-154354915
450 FLNA NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg) SNV Uncertain significance 447344 rs781823700 GRCh37: X:153579367-153579367
GRCh38: X:154350999-154350999
451 FLNA NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly) SNV Uncertain significance 654194 rs1603362451 GRCh37: X:153593218-153593218
GRCh38: X:154364850-154364850
452 FLNA NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) SNV Uncertain significance 197428 rs797044739 GRCh37: X:153580288-153580288
GRCh38: X:154351920-154351920
453 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro) SNV Uncertain significance 655782 rs1603358284 GRCh37: X:153577377-153577377
GRCh38: X:154349009-154349009
454 FLNA NM_001110556.2(FLNA):c.4457A>T (p.Lys1486Ile) SNV Uncertain significance 655889 rs188943867 GRCh37: X:153587369-153587369
GRCh38: X:154359001-154359001
455 FLNA NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr) SNV Uncertain significance 657648 rs782698277 GRCh37: X:153593756-153593756
GRCh38: X:154365388-154365388
456 FLNA NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys) SNV Uncertain significance 657952 rs367639317 GRCh37: X:153594572-153594572
GRCh38: X:154366204-154366204
457 FLNA NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu) SNV Uncertain significance 658229 rs372729831 GRCh37: X:153585975-153585975
GRCh38: X:154357607-154357607
458 FLNA NM_001110556.2(FLNA):c.7A>G (p.Ser3Gly) SNV Uncertain significance 658824 rs1430045418 GRCh37: X:153599607-153599607
GRCh38: X:154371239-154371239
459 FLNA NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly) SNV Uncertain significance 659180 rs374295965 GRCh37: X:153592919-153592919
GRCh38: X:154364551-154364551
460 FLNA NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp) SNV Uncertain significance 213518 rs863223644 GRCh37: X:153594512-153594512
GRCh38: X:154366144-154366144
461 FLNA NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met) SNV Uncertain significance 582182 rs782314291 GRCh37: X:153585922-153585922
GRCh38: X:154357554-154357554
462 FLNA NM_001110556.2(FLNA):c.4452G>C (p.Gln1484His) SNV Uncertain significance 582608 rs1569551606 GRCh37: X:153587374-153587374
GRCh38: X:154359006-154359006
463 FLNA NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met) SNV Uncertain significance 582991 rs782351877 GRCh37: X:153583312-153583312
GRCh38: X:154354944-154354944
464 FLNA NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val) SNV Uncertain significance 583155 rs201810442 GRCh37: X:153588561-153588561
GRCh38: X:154360193-154360193
465 overlap with 2 genes NC_000023.10:g.(?_153577197)_(153609577_?)dup Duplication Uncertain significance 584217 GRCh37: X:153577197-153609577
GRCh38:
466 FLNA NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) SNV Uncertain significance 435203 rs781984274 GRCh37: X:153580593-153580593
GRCh38: X:154352225-154352225
467 FLNA NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) SNV Uncertain significance 533577 rs782400832 GRCh37: X:153581143-153581143
GRCh38: X:154352775-154352775
468 FLNA NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) SNV Uncertain significance 625948 rs1557177412 GRCh37: X:153587512-153587512
GRCh38: X:154359144-154359144
469 FLNA NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) SNV Uncertain significance 588552 rs782445995 GRCh37: X:153589909-153589909
GRCh38: X:154361541-154361541
470 FLNA NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) SNV Uncertain significance 625949 rs1448428046 GRCh37: X:153591069-153591069
GRCh38: X:154362701-154362701
471 FLNA NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) SNV Uncertain significance 625950 rs1569551838 GRCh37: X:153594700-153594700
GRCh38: X:154366332-154366332
472 FLNA NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) SNV Uncertain significance 625951 rs1569551874 GRCh37: X:153596338-153596338
GRCh38: X:154367970-154367970
473 FLNA NM_001110556.2(FLNA):c.3929A>G (p.Gln1310Arg) SNV Uncertain significance 639803 rs1557177601 GRCh37: X:153588150-153588150
GRCh38: X:154359782-154359782
474 FLNA NM_001110556.2(FLNA):c.5482G>A (p.Val1828Met) SNV Uncertain significance 640425 rs782448596 GRCh37: X:153582594-153582594
GRCh38: X:154354226-154354226
475 FLNA NM_001110556.2(FLNA):c.7188G>C (p.Glu2396Asp) SNV Uncertain significance 640643 rs1557175461 GRCh37: X:153578544-153578544
GRCh38: X:154350176-154350176
476 FLNA NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln) SNV Uncertain significance 641236 rs782490288 GRCh37: X:153587924-153587924
GRCh38: X:154359556-154359556
477 FLNA NM_001110556.2(FLNA):c.84G>C (p.Met28Ile) SNV Uncertain significance 641298 rs1603363939 GRCh37: X:153599530-153599530
GRCh38: X:154371162-154371162
478 FLNA NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu) SNV Uncertain significance 641619 rs782082407 GRCh37: X:153585913-153585913
GRCh38: X:154357545-154357545
479 FLNA NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys) SNV Uncertain significance 641746 rs1400230946 GRCh37: X:153585844-153585844
GRCh38: X:154357476-154357476
480 FLNA NC_000023.10:g.(?_153577207)_(153599623_?)dup Duplication Uncertain significance 642059 GRCh37: X:153577207-153599623
GRCh38:
481 FLNA NM_001110556.2(FLNA):c.4465G>C (p.Gly1489Arg) SNV Uncertain significance 642859 rs782276039 GRCh37: X:153587361-153587361
GRCh38: X:154358993-154358993
482 FLNA NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg) SNV Uncertain significance 643016 rs781988041 GRCh37: X:153599585-153599585
GRCh38: X:154371217-154371217
483 FLNA NM_001110556.2(FLNA):c.2204A>G (p.Tyr735Cys) SNV Uncertain significance 643872 rs1603362223 GRCh37: X:153592466-153592466
GRCh38: X:154364098-154364098
484 FLNA NM_001110556.2(FLNA):c.7202T>C (p.Leu2401Pro) SNV Uncertain significance 644112 rs1603358629 GRCh37: X:153578530-153578530
GRCh38: X:154350162-154350162
485 FLNA NM_001110556.2(FLNA):c.6310G>A (p.Val2104Ile) SNV Uncertain significance 646098 rs782722036 GRCh37: X:153581209-153581209
GRCh38: X:154352841-154352841
486 FLNA NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp) SNV Uncertain significance 646581 rs1557179125 GRCh37: X:153594397-153594397
GRCh38: X:154366029-154366029
487 ARFGEF2 NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=) SNV Uncertain significance 128432 rs147534008 GRCh37: 20:47589800-47589800
GRCh38: 20:48973263-48973263
488 ARFGEF2 NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr) SNV Uncertain significance 798173 rs200473895 GRCh37: 20:47633816-47633816
GRCh38: 20:49017279-49017279
489 ARFGEF2 NM_006420.3(ARFGEF2):c.1329C>T (p.Asn443=) SNV Uncertain significance 718061 rs192383756 GRCh37: 20:47587795-47587795
GRCh38: 20:48971258-48971258
490 ARFGEF2 NM_006420.3(ARFGEF2):c.*2898C>T SNV Uncertain significance 338746 rs562341163 GRCh37: 20:47652634-47652634
GRCh38: 20:49036097-49036097
491 ARFGEF2 NM_006420.3(ARFGEF2):c.*1932A>G SNV Uncertain significance 338729 rs886056767 GRCh37: 20:47651668-47651668
GRCh38: 20:49035131-49035131
492 ARFGEF2 NM_006420.3(ARFGEF2):c.4526G>A (p.Arg1509His) SNV Uncertain significance 338703 rs774033935 GRCh37: 20:47635437-47635437
GRCh38: 20:49018900-49018900
493 ARFGEF2 NM_006420.3(ARFGEF2):c.1294A>G (p.Ile432Val) SNV Uncertain significance 338686 rs41296207 GRCh37: 20:47587760-47587760
GRCh38: 20:48971223-48971223
494 ARFGEF2 NM_006420.3(ARFGEF2):c.*215G>T SNV Uncertain significance 338712 rs886056760 GRCh37: 20:47649951-47649951
GRCh38: 20:49033414-49033414
495 ARFGEF2 NM_006420.3(ARFGEF2):c.3507T>G (p.Leu1169=) SNV Uncertain significance 338696 rs117818460 GRCh37: 20:47621681-47621681
GRCh38: 20:49005144-49005144
496 ARFGEF2 NM_006420.3(ARFGEF2):c.4061T>C (p.Val1354Ala) SNV Uncertain significance 338698 rs771148216 GRCh37: 20:47630379-47630379
GRCh38: 20:49013842-49013842
497 ARFGEF2 NM_006420.3(ARFGEF2):c.*2014T>G SNV Uncertain significance 338732 rs886056768 GRCh37: 20:47651750-47651750
GRCh38: 20:49035213-49035213
498 ARFGEF2 NM_006420.3(ARFGEF2):c.1064C>T (p.Ser355Leu) SNV Uncertain significance 338684 rs886056752 GRCh37: 20:47585688-47585688
GRCh38: 20:48969151-48969151
499 FLNA NM_001110556.2(FLNA):c.623-20_623-12del Deletion Uncertain significance 190201 rs786205200 GRCh37: X:153596118-153596126
GRCh38: X:154367750-154367758
500 ARFGEF2 NM_006420.3(ARFGEF2):c.3456T>C (p.Asp1152=) SNV Uncertain significance 434286 rs145545997 GRCh37: 20:47621630-47621630
GRCh38: 20:49005093-49005093
501 ARFGEF2 NM_006420.3(ARFGEF2):c.2640G>A (p.Pro880=) SNV Uncertain significance 434282 rs368844677 GRCh37: 20:47605928-47605928
GRCh38: 20:48989391-48989391
502 ARFGEF2 NM_006420.3(ARFGEF2):c.*2451A>C SNV Uncertain significance 338735 rs886056770 GRCh37: 20:47652187-47652187
GRCh38: 20:49035650-49035650
503 ARFGEF2 NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) SNV Uncertain significance 128441 rs151221957 GRCh37: 20:47634040-47634040
GRCh38: 20:49017503-49017503
504 ARFGEF2 NM_006420.3(ARFGEF2):c.1015G>C (p.Gly339Arg) SNV Uncertain significance 982854 GRCh37: 20:47582516-47582516
GRCh38: 20:48965979-48965979
505 ARFGEF2 NM_006420.3(ARFGEF2):c.3177G>T (p.Ser1059=) SNV Uncertain significance 210234 rs61748373 GRCh37: 20:47612375-47612375
GRCh38: 20:48995838-48995838
506 ARFGEF2 NM_006420.3(ARFGEF2):c.2253A>G (p.Ala751=) SNV Uncertain significance 210231 rs770578384 GRCh37: 20:47602127-47602127
GRCh38: 20:48985590-48985590
507 ARFGEF2 NM_006420.3(ARFGEF2):c.695G>A (p.Arg232His) SNV Uncertain significance 338681 rs140989375 GRCh37: 20:47570184-47570184
GRCh38: 20:48953647-48953647
508 ARFGEF2 NM_006420.3(ARFGEF2):c.4332G>A (p.Ala1444=) SNV Uncertain significance 210241 rs201206379 GRCh37: 20:47633802-47633802
GRCh38: 20:49017265-49017265
509 ARFGEF2 NM_006420.3(ARFGEF2):c.5063C>T (p.Thr1688Ile) SNV Uncertain significance 338705 rs145439001 GRCh37: 20:47645205-47645205
GRCh38: 20:49028668-49028668
510 FLNA NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn) SNV Uncertain significance 239014 rs782321294 GRCh37: X:153593592-153593592
GRCh38: X:154365224-154365224
511 ARFGEF2 NM_006420.3(ARFGEF2):c.3262G>A (p.Val1088Ile) SNV Uncertain significance 587411 rs1568729284 GRCh37: 20:47614770-47614770
GRCh38: 20:48998233-48998233
512 ARFGEF2 NM_006420.3(ARFGEF2):c.1585A>G (p.Ile529Val) SNV Uncertain significance 338690 rs770424682 GRCh37: 20:47589741-47589741
GRCh38: 20:48973204-48973204
513 ARFGEF2 NM_006420.3(ARFGEF2):c.*1422A>G SNV Uncertain significance 338722 rs145729807 GRCh37: 20:47651158-47651158
GRCh38: 20:49034621-49034621
514 ARFGEF2 NM_006420.3(ARFGEF2):c.2071-10T>C SNV Uncertain significance 338691 rs886056754 GRCh37: 20:47601935-47601935
GRCh38: 20:48985398-48985398
515 ARFGEF2 NM_006420.3(ARFGEF2):c.-60C>T SNV Uncertain significance 338678 rs562458873 GRCh37: 20:47538367-47538367
GRCh38: 20:48921830-48921830
516 ARFGEF2 NM_006420.3(ARFGEF2):c.*1608T>C SNV Uncertain significance 338725 rs886056765 GRCh37: 20:47651344-47651344
GRCh38: 20:49034807-49034807
517 ARFGEF2 NM_006420.3(ARFGEF2):c.*2820T>G SNV Uncertain significance 338745 rs886056773 GRCh37: 20:47652556-47652556
GRCh38: 20:49036019-49036019
518 ARFGEF2 NM_006420.3(ARFGEF2):c.2658C>T (p.His886=) SNV Uncertain significance 338693 rs201685748 GRCh37: 20:47605946-47605946
GRCh38: 20:48989409-48989409
519 ARFGEF2 NM_006420.3(ARFGEF2):c.4480A>G (p.Met1494Val) SNV Uncertain significance 338702 rs200763159 GRCh37: 20:47634058-47634058
GRCh38: 20:49017521-49017521
520 ARFGEF2 NM_006420.3(ARFGEF2):c.*32G>T SNV Uncertain significance 338708 rs755592884 GRCh37: 20:47649768-47649768
GRCh38: 20:49033231-49033231
521 ARFGEF2 NM_006420.3(ARFGEF2):c.*1846C>T SNV Uncertain significance 338728 rs754078836 GRCh37: 20:47651582-47651582
GRCh38: 20:49035045-49035045
522 ARFGEF2 NM_006420.3(ARFGEF2):c.*141G>A SNV Uncertain significance 338711 rs200664908 GRCh37: 20:47649877-47649877
GRCh38: 20:49033340-49033340
523 ARFGEF2 NM_006420.3(ARFGEF2):c.3900C>T (p.Tyr1300=) SNV Uncertain significance 338697 rs142138231 GRCh37: 20:47628603-47628603
GRCh38: 20:49012066-49012066
524 ARFGEF2 NM_006420.3(ARFGEF2):c.1030A>C (p.Arg344=) SNV Uncertain significance 338683 rs199671906 GRCh37: 20:47582531-47582531
GRCh38: 20:48965994-48965994
525 ARFGEF2 NM_006420.3(ARFGEF2):c.*1969G>C SNV Uncertain significance 338731 rs144237181 GRCh37: 20:47651705-47651705
GRCh38: 20:49035168-49035168
526 ARFGEF2 NM_006420.3(ARFGEF2):c.2831A>T (p.Tyr944Phe) SNV Uncertain significance 338694 rs886056756 GRCh37: 20:47607593-47607593
GRCh38: 20:48991056-48991056
527 ARFGEF2 NM_006420.3(ARFGEF2):c.*368A>G SNV Uncertain significance 338714 rs78721163 GRCh37: 20:47650104-47650104
GRCh38: 20:49033567-49033567
528 ARFGEF2 NM_006420.3(ARFGEF2):c.*2240A>C SNV Uncertain significance 338734 rs544204791 GRCh37: 20:47651976-47651976
GRCh38: 20:49035439-49035439
529 ARFGEF2 NM_006420.3(ARFGEF2):c.*2758A>T SNV Uncertain significance 338740 rs886056771 GRCh37: 20:47652494-47652494
GRCh38: 20:49035957-49035957
530 ARFGEF2 NM_006420.3(ARFGEF2):c.*2591G>A SNV Uncertain significance 338737 rs539966221 GRCh37: 20:47652327-47652327
GRCh38: 20:49035790-49035790
531 ARFGEF2 NM_006420.3(ARFGEF2):c.4315+5T>G SNV Uncertain significance 338699 rs753508291 GRCh37: 20:47632957-47632957
GRCh38: 20:49016420-49016420
532 ARFGEF2 NM_006420.3(ARFGEF2):c.*819C>T SNV Uncertain significance 338717 rs779640545 GRCh37: 20:47650555-47650555
GRCh38: 20:49034018-49034018
533 ARFGEF2 NM_006420.3(ARFGEF2):c.4373A>G (p.Asn1458Ser) SNV Uncertain significance 338701 rs886056757 GRCh37: 20:47633843-47633843
GRCh38: 20:49017306-49017306
534 ARFGEF2 NM_006420.3(ARFGEF2):c.*1200A>G SNV Uncertain significance 338720 rs886056762 GRCh37: 20:47650936-47650936
GRCh38: 20:49034399-49034399
535 ARFGEF2 NM_006420.3(ARFGEF2):c.*70C>T SNV Uncertain significance 338709 rs373799127 GRCh37: 20:47649806-47649806
GRCh38: 20:49033269-49033269
536 ARFGEF2 NM_006420.3(ARFGEF2):c.*1564G>A SNV Uncertain significance 338723 rs886056764 GRCh37: 20:47651300-47651300
GRCh38: 20:49034763-49034763
537 ARFGEF2 NM_006420.3(ARFGEF2):c.5105C>T (p.Ser1702Phe) SNV Uncertain significance 338706 rs767531219 GRCh37: 20:47648627-47648627
GRCh38: 20:49032090-49032090
538 ARFGEF2 NM_006420.3(ARFGEF2):c.-68C>A SNV Uncertain significance 338677 rs886056751 GRCh37: 20:47538359-47538359
GRCh38: 20:48921822-48921822
539 ARFGEF2 NM_006420.3(ARFGEF2):c.1497C>T (p.Val499=) SNV Uncertain significance 338689 rs745336226 GRCh37: 20:47588934-47588934
GRCh38: 20:48972397-48972397
540 ARFGEF2 NM_006420.3(ARFGEF2):c.4316-12T>C SNV Uncertain significance 338700 rs573635235 GRCh37: 20:47633774-47633774
GRCh38: 20:49017237-49017237
541 ARFGEF2 NM_006420.3(ARFGEF2):c.*1304C>T SNV Uncertain significance 338721 rs886056763 GRCh37: 20:47651040-47651040
GRCh38: 20:49034503-49034503
542 ARFGEF2 NM_006420.3(ARFGEF2):c.4924+13A>G SNV Uncertain significance 338704 rs886056758 GRCh37: 20:47642031-47642031
GRCh38: 20:49025494-49025494
543 ARFGEF2 NM_006420.3(ARFGEF2):c.*1016G>A SNV Uncertain significance 338718 rs534792055 GRCh37: 20:47650752-47650752
GRCh38: 20:49034215-49034215
544 ARFGEF2 NM_006420.3(ARFGEF2):c.-5G>A SNV Uncertain significance 338680 rs375056092 GRCh37: 20:47538422-47538422
GRCh38: 20:48921885-48921885
545 ARFGEF2 NM_006420.3(ARFGEF2):c.*1789A>G SNV Uncertain significance 338727 rs886056766 GRCh37: 20:47651525-47651525
GRCh38: 20:49034988-49034988
546 ARFGEF2 NM_006420.3(ARFGEF2):c.*134C>T SNV Uncertain significance 338710 rs886056759 GRCh37: 20:47649870-47649870
GRCh38: 20:49033333-49033333
547 ARFGEF2 NM_006420.3(ARFGEF2):c.*3486T>A SNV Uncertain significance 338747 rs886056774 GRCh37: 20:47653222-47653222
GRCh38: 20:49036685-49036685
548 ARFGEF2 NM_006420.3(ARFGEF2):c.*1969G>A SNV Uncertain significance 338730 rs144237181 GRCh37: 20:47651705-47651705
GRCh38: 20:49035168-49035168
549 ARFGEF2 NM_006420.3(ARFGEF2):c.*2067G>C SNV Uncertain significance 338733 rs886056769 GRCh37: 20:47651803-47651803
GRCh38: 20:49035266-49035266
550 ARFGEF2 NM_006420.3(ARFGEF2):c.1182A>G (p.Pro394=) SNV Uncertain significance 338685 rs886056753 GRCh37: 20:47585806-47585806
GRCh38: 20:48969269-48969269
551 ARFGEF2 NM_006420.3(ARFGEF2):c.*2609C>T SNV Uncertain significance 338739 rs780728922 GRCh37: 20:47652345-47652345
GRCh38: 20:49035808-49035808
552 ARFGEF2 NM_006420.3(ARFGEF2):c.*1138C>A SNV Uncertain significance 338719 rs886056761 GRCh37: 20:47650874-47650874
GRCh38: 20:49034337-49034337
553 ARFGEF2 NM_006420.3(ARFGEF2):c.*503G>A SNV Uncertain significance 338716 rs372740919 GRCh37: 20:47650239-47650239
GRCh38: 20:49033702-49033702
554 ARFGEF2 NM_006420.3(ARFGEF2):c.1240G>C (p.Val414Leu) SNV Uncertain significance 895198 GRCh37: 20:47587706-47587706
GRCh38: 20:48971169-48971169
555 ARFGEF2 NM_006420.3(ARFGEF2):c.1247A>C (p.Gln416Pro) SNV Uncertain significance 895199 GRCh37: 20:47587713-47587713
GRCh38: 20:48971176-48971176
556 ARFGEF2 NM_006420.3(ARFGEF2):c.1299G>A (p.Lys433=) SNV Uncertain significance 895200 GRCh37: 20:47587765-47587765
GRCh38: 20:48971228-48971228
557 ARFGEF2 NM_006420.3(ARFGEF2):c.3274C>T (p.Arg1092Cys) SNV Uncertain significance 895253 GRCh37: 20:47614884-47614884
GRCh38: 20:48998347-48998347
558 ARFGEF2 NM_006420.3(ARFGEF2):c.3318C>T (p.His1106=) SNV Uncertain significance 895254 GRCh37: 20:47614928-47614928
GRCh38: 20:48998391-48998391
559 ARFGEF2 NM_006420.3(ARFGEF2):c.*127C>T SNV Uncertain significance 895327 GRCh37: 20:47649863-47649863
GRCh38: 20:49033326-49033326
560 ARFGEF2 NM_006420.3(ARFGEF2):c.*134C>A SNV Uncertain significance 895328 GRCh37: 20:47649870-47649870
GRCh38: 20:49033333-49033333
561 ARFGEF2 NM_006420.3(ARFGEF2):c.*140C>T SNV Uncertain significance 895329 GRCh37: 20:47649876-47649876
GRCh38: 20:49033339-49033339
562 ARFGEF2 NM_006420.3(ARFGEF2):c.*148C>G SNV Uncertain significance 895330 GRCh37: 20:47649884-47649884
GRCh38: 20:49033347-49033347
563 ARFGEF2 NM_006420.3(ARFGEF2):c.*161A>G SNV Uncertain significance 895331 GRCh37: 20:47649897-47649897
GRCh38: 20:49033360-49033360
564 ARFGEF2 NM_006420.3(ARFGEF2):c.*1876G>A SNV Uncertain significance 895406 GRCh37: 20:47651612-47651612
GRCh38: 20:49035075-49035075
565 ARFGEF2 NM_006420.3(ARFGEF2):c.*1943G>T SNV Uncertain significance 895407 GRCh37: 20:47651679-47651679
GRCh38: 20:49035142-49035142
566 ARFGEF2 NM_006420.3(ARFGEF2):c.-39C>T SNV Uncertain significance 896552 GRCh37: 20:47538388-47538388
GRCh38: 20:48921851-48921851
567 ARFGEF2 NM_006420.3(ARFGEF2):c.1498A>G (p.Ile500Val) SNV Uncertain significance 896611 GRCh37: 20:47588935-47588935
GRCh38: 20:48972398-48972398
568 ARFGEF2 NM_006420.3(ARFGEF2):c.1665+7A>C SNV Uncertain significance 896612 GRCh37: 20:47589828-47589828
GRCh38: 20:48973291-48973291
569 ARFGEF2 NM_006420.3(ARFGEF2):c.1834C>T (p.Arg612Trp) SNV Uncertain significance 896613 GRCh37: 20:47592612-47592612
GRCh38: 20:48976075-48976075
570 ARFGEF2 NM_006420.3(ARFGEF2):c.1926A>G (p.Gln642=) SNV Uncertain significance 896614 GRCh37: 20:47592704-47592704
GRCh38: 20:48976167-48976167
571 ARFGEF2 NM_006420.3(ARFGEF2):c.3945C>T (p.Asp1315=) SNV Uncertain significance 896690 GRCh37: 20:47630127-47630127
GRCh38: 20:49013590-49013590
572 ARFGEF2 NM_006420.3(ARFGEF2):c.4180-13T>C SNV Uncertain significance 896691 GRCh37: 20:47632804-47632804
GRCh38: 20:49016267-49016267
573 ARFGEF2 NM_006420.3(ARFGEF2):c.4219T>A (p.Tyr1407Asn) SNV Uncertain significance 896692 GRCh37: 20:47632856-47632856
GRCh38: 20:49016319-49016319
574 ARFGEF2 NM_006420.3(ARFGEF2):c.*323G>A SNV Uncertain significance 896744 GRCh37: 20:47650059-47650059
GRCh38: 20:49033522-49033522
575 ARFGEF2 NM_006420.3(ARFGEF2):c.*640T>A SNV Uncertain significance 896745 GRCh37: 20:47650376-47650376
GRCh38: 20:49033839-49033839
576 ARFGEF2 NM_006420.3(ARFGEF2):c.*866T>C SNV Uncertain significance 896746 GRCh37: 20:47650602-47650602
GRCh38: 20:49034065-49034065
577 ARFGEF2 NM_006420.3(ARFGEF2):c.*2391C>T SNV Uncertain significance 896802 GRCh37: 20:47652127-47652127
GRCh38: 20:49035590-49035590
578 ARFGEF2 NM_006420.3(ARFGEF2):c.*2692C>T SNV Uncertain significance 896803 GRCh37: 20:47652428-47652428
GRCh38: 20:49035891-49035891
579 ARFGEF2 NM_006420.3(ARFGEF2):c.4348T>A (p.Cys1450Ser) SNV Uncertain significance 897141 GRCh37: 20:47633818-47633818
GRCh38: 20:49017281-49017281
580 ARFGEF2 NM_006420.3(ARFGEF2):c.4732G>C (p.Ala1578Pro) SNV Uncertain significance 897142 GRCh37: 20:47639695-47639695
GRCh38: 20:49023158-49023158
581 ARFGEF2 NM_006420.3(ARFGEF2):c.*1015C>T SNV Uncertain significance 897219 GRCh37: 20:47650751-47650751
GRCh38: 20:49034214-49034214
582 ARFGEF2 NM_006420.3(ARFGEF2):c.*1104G>A SNV Uncertain significance 897220 GRCh37: 20:47650840-47650840
GRCh38: 20:49034303-49034303
583 ARFGEF2 NM_006420.3(ARFGEF2):c.*1184A>G SNV Uncertain significance 897221 GRCh37: 20:47650920-47650920
GRCh38: 20:49034383-49034383
584 ARFGEF2 NM_006420.3(ARFGEF2):c.*2858C>A SNV Uncertain significance 897284 GRCh37: 20:47652594-47652594
GRCh38: 20:49036057-49036057
585 ARFGEF2 NM_006420.3(ARFGEF2):c.158G>T (p.Gly53Val) SNV Uncertain significance 898181 GRCh37: 20:47558406-47558406
GRCh38: 20:48941869-48941869
586 ARFGEF2 NM_006420.3(ARFGEF2):c.454A>G (p.Ile152Val) SNV Uncertain significance 898182 GRCh37: 20:47569272-47569272
GRCh38: 20:48952735-48952735
587 ARFGEF2 NM_006420.3(ARFGEF2):c.694C>T (p.Arg232Cys) SNV Uncertain significance 898183 GRCh37: 20:47570183-47570183
GRCh38: 20:48953646-48953646
588 ARFGEF2 NM_006420.3(ARFGEF2):c.699G>A (p.Leu233=) SNV Uncertain significance 898184 GRCh37: 20:47570188-47570188
GRCh38: 20:48953651-48953651
589 ARFGEF2 NM_006420.3(ARFGEF2):c.2133C>T (p.Tyr711=) SNV Uncertain significance 898238 GRCh37: 20:47602007-47602007
GRCh38: 20:48985470-48985470
590 ARFGEF2 NM_006420.3(ARFGEF2):c.2147A>G (p.Asp716Gly) SNV Uncertain significance 898239 GRCh37: 20:47602021-47602021
GRCh38: 20:48985484-48985484
591 ARFGEF2 NM_006420.3(ARFGEF2):c.2250C>T (p.Ala750=) SNV Uncertain significance 898240 GRCh37: 20:47602124-47602124
GRCh38: 20:48985587-48985587
592 ARFGEF2 NM_006420.3(ARFGEF2):c.2251G>T (p.Ala751Ser) SNV Uncertain significance 898241 GRCh37: 20:47602125-47602125
GRCh38: 20:48985588-48985588
593 ARFGEF2 NM_006420.3(ARFGEF2):c.2276+10G>A SNV Uncertain significance 898242 GRCh37: 20:47602160-47602160
GRCh38: 20:48985623-48985623
594 ARFGEF2 NM_006420.3(ARFGEF2):c.5275T>C (p.Phe1759Leu) SNV Uncertain significance 898306 GRCh37: 20:47649653-47649653
GRCh38: 20:49033116-49033116
595 ARFGEF2 NM_006420.3(ARFGEF2):c.5286A>G (p.Ile1762Met) SNV Uncertain significance 898307 GRCh37: 20:47649664-47649664
GRCh38: 20:49033127-49033127
596 ARFGEF2 NM_006420.3(ARFGEF2):c.*29T>C SNV Uncertain significance 898308 GRCh37: 20:47649765-47649765
GRCh38: 20:49033228-49033228
597 ARFGEF2 NM_006420.3(ARFGEF2):c.*1560G>A SNV Uncertain significance 898391 GRCh37: 20:47651296-47651296
GRCh38: 20:49034759-49034759
598 ARFGEF2 NM_006420.3(ARFGEF2):c.*1708C>G SNV Uncertain significance 898392 GRCh37: 20:47651444-47651444
GRCh38: 20:49034907-49034907
599 ARFGEF2 NM_006420.3(ARFGEF2):c.1155C>T (p.Ser385=) SNV Uncertain significance 899289 GRCh37: 20:47585779-47585779
GRCh38: 20:48969242-48969242
600 ARFGEF2 NM_006420.3(ARFGEF2):c.1204C>T (p.Arg402Cys) SNV Uncertain significance 899290 GRCh37: 20:47587670-47587670
GRCh38: 20:48971133-48971133
601 ARFGEF2 NM_006420.3(ARFGEF2):c.2815-5T>A SNV Uncertain significance 899354 GRCh37: 20:47607572-47607572
GRCh38: 20:48991035-48991035
602 FLNA NM_001110556.2(FLNA):c.2485A>G (p.Asn829Asp) SNV Uncertain significance 464978 rs1557178269 GRCh37: X:153590866-153590866
GRCh38: X:154362498-154362498
603 FLNA NM_001110556.2(FLNA):c.2826+4G>A SNV Uncertain significance 464981 rs1037180469 GRCh37: X:153590343-153590343
GRCh38: X:154361975-154361975
604 FLNA NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe) SNV Uncertain significance 435211 rs1557175878 GRCh37: X:153580284-153580284
GRCh38: X:154351916-154351916
605 FLNA NM_001110556.2(FLNA):c.4444C>T (p.Pro1482Ser) SNV Uncertain significance 533574 rs782349011 GRCh37: X:153587382-153587382
GRCh38: X:154359014-154359014
606 FLNA NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val) SNV Uncertain significance 533582 rs1557178202 GRCh37: X:153590682-153590682
GRCh38: X:154362314-154362314
607 FLNA NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) SNV Uncertain significance 195948 rs782129236 GRCh37: X:153587406-153587406
GRCh38: X:154359038-154359038
608 FLNA NM_001110556.2(FLNA):c.6502+8C>G SNV Uncertain significance 641294 rs1603359201 GRCh37: X:153580913-153580913
GRCh38: X:154352545-154352545
609 FLNA NM_001110556.2(FLNA):c.2033G>A (p.Arg678His) SNV Uncertain significance 643110 rs924631524 GRCh37: X:153592730-153592730
GRCh38: X:154364362-154364362
610 FLNA NM_001110556.2(FLNA):c.6916G>A (p.Glu2306Lys) SNV Uncertain significance 645104 rs1603358960 GRCh37: X:153580056-153580056
GRCh38: X:154351688-154351688
611 FLNA NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn) SNV Uncertain significance 561301 rs782090266 GRCh37: X:153594766-153594766
GRCh38: X:154366398-154366398
612 overlap with 2 genes NC_000023.10:g.(?_153577207)_(153609567_?)dup Duplication Uncertain significance 655212 GRCh37: X:153577207-153609567
GRCh38:
613 FLNA NM_001110556.2(FLNA):c.3588G>C (p.Glu1196Asp) SNV Uncertain significance 842133 GRCh37: X:153588575-153588575
GRCh38: X:154360207-154360207
614 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7656T>A (p.Pro2552=) SNV Uncertain significance 847173 GRCh37: X:153577830-153577830
GRCh38: X:154349462-154349462
615 FLNA NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val) SNV Uncertain significance 519878 rs781976719 GRCh37: X:153587710-153587710
GRCh38: X:154359342-154359342
616 FLNA NM_001110556.2(FLNA):c.3763A>G (p.Thr1255Ala) SNV Uncertain significance 852169 GRCh37: X:153588400-153588400
GRCh38: X:154360032-154360032
617 FLNA NC_000023.10:g.(?_153577197)_(153599633_?)dup Duplication Uncertain significance 832345 GRCh37: X:153577197-153599633
GRCh38:
618 FLNA NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) SNV Uncertain significance 211010 rs782549299 GRCh37: X:153594583-153594583
GRCh38: X:154366215-154366215
619 FLNA NM_001110556.2(FLNA):c.1882G>A (p.Asp628Asn) SNV Uncertain significance 860006 GRCh37: X:153593034-153593034
GRCh38: X:154364666-154364666
620 FLNA NM_001110556.2(FLNA):c.6862C>T (p.Arg2288Cys) SNV Uncertain significance 863029 GRCh37: X:153580297-153580297
GRCh38: X:154351929-154351929
621 FLNA NM_001110556.2(FLNA):c.1608C>T (p.Gly536=) SNV Uncertain significance 863839 GRCh37: X:153593587-153593587
GRCh38: X:154365219-154365219
622 FLNA NM_001110556.2(FLNA):c.3653C>G (p.Thr1218Ser) SNV Uncertain significance 856633 GRCh37: X:153588510-153588510
GRCh38: X:154360142-154360142
623 FLNA NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu) SNV Uncertain significance 519889 rs782406278 GRCh37: X:153588939-153588939
GRCh38: X:154360571-154360571
624 FLNA NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met) SNV Uncertain significance 561300 rs1569551635 GRCh37: X:153588003-153588003
GRCh38: X:154359635-154359635
625 FLNA NM_001110556.2(FLNA):c.3451A>G (p.Lys1151Glu) SNV Uncertain significance 962101 GRCh37: X:153588712-153588712
GRCh38: X:154360344-154360344
626 FLNA NM_001110556.2(FLNA):c.1463G>A (p.Arg488Gln) SNV Uncertain significance 959421 GRCh37: X:153593821-153593821
GRCh38: X:154365453-154365453
627 FLNA NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) SNV Uncertain significance 939032 GRCh37: X:153589902-153589902
GRCh38: X:154361534-154361534
628 FLNA NM_001110556.2(FLNA):c.5621G>C (p.Gly1874Ala) SNV Uncertain significance 988745 GRCh37: X:153582348-153582348
GRCh38: X:154353980-154353980
629 FLNA NM_001110556.2(FLNA):c.2527G>A (p.Ala843Thr) SNV Uncertain significance 943826 GRCh37: X:153590824-153590824
GRCh38: X:154362456-154362456
630 FLNA NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) SNV Uncertain significance 591017 rs781993685 GRCh37: X:153583294-153583294
GRCh38: X:154354926-154354926
631 FLNA NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile) SNV Uncertain significance 521869 rs782190081 GRCh37: X:153578116-153578116
GRCh38: X:154349748-154349748
632 FLNA NM_001110556.2(FLNA):c.4121A>G (p.Asn1374Ser) SNV Uncertain significance 947621 GRCh37: X:153587873-153587873
GRCh38: X:154359505-154359505
633 FLNA NM_001110556.2(FLNA):c.2389G>T (p.Ala797Ser) SNV Uncertain significance 948527 GRCh37: X:153591044-153591044
GRCh38: X:154362676-154362676
634 FLNA NM_001110556.2(FLNA):c.2566-6C>A SNV Uncertain significance 950177 GRCh37: X:153590706-153590706
GRCh38: X:154362338-154362338
635 FLNA NM_001110556.2(FLNA):c.5428A>G (p.Met1810Val) SNV Uncertain significance 951271 GRCh37: X:153582648-153582648
GRCh38: X:154354280-154354280
636 FLNA NM_001110556.2(FLNA):c.6990C>T (p.Gly2330=) SNV Uncertain significance 956557 GRCh37: X:153579982-153579982
GRCh38: X:154351614-154351614
637 FLNA NM_001110556.2(FLNA):c.3801C>T (p.Gly1267=) SNV Uncertain significance 959268 GRCh37: X:153588362-153588362
GRCh38: X:154359994-154359994
638 ARFGEF2 NM_006420.3(ARFGEF2):c.2558G>A (p.Arg853Gln) SNV Uncertain significance 898243 GRCh37: 20:47605846-47605846
GRCh38: 20:48989309-48989309
639 ERMARD NM_018341.3(ERMARD):c.1072del (p.Asp358fs) Deletion Uncertain significance 915337 GRCh37: 6:170169646-170169646
GRCh38: 6:169769550-169769550
640 FLNA NM_001110556.2(FLNA):c.4904G>A (p.Arg1635His) SNV Uncertain significance 937679 GRCh37: X:153585843-153585843
GRCh38: X:154357475-154357475
641 FLNA NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=) SNV Likely benign 283527 rs376461465 GRCh37: X:153580355-153580355
GRCh38: X:154351987-154351987
642 FLNA NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile) SNV Likely benign 464988 rs376774130 GRCh37: X:153587888-153587888
GRCh38: X:154359520-154359520
643 FLNA NM_001110556.2(FLNA):c.1901G>A (p.Arg634His) SNV Likely benign 239015 rs782038837 GRCh37: X:153593015-153593015
GRCh38: X:154364647-154364647
644 FLNA NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met) SNV Likely benign 465006 rs782639698 GRCh37: X:153581735-153581735
GRCh38: X:154353367-154353367
645 FLNA NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr) SNV Likely benign 465017 rs202152952 GRCh37: X:153578527-153578527
GRCh38: X:154350159-154350159
646 FLNA NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met) SNV Likely benign 435204 rs201396725 GRCh37: X:153581029-153581029
GRCh38: X:154352661-154352661
647 FLNA NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile) SNV Likely benign 574436 rs782239678 GRCh37: X:153590143-153590143
GRCh38: X:154361775-154361775
648 FLNA NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His) SNV Likely benign 519868 rs371839875 GRCh37: X:153591110-153591110
GRCh38: X:154362742-154362742
649 FLNA NM_001110556.2(FLNA):c.1170C>A (p.Gly390=) SNV Likely benign 797060 rs1603362865 GRCh37: X:153594734-153594734
GRCh38: X:154366366-154366366
650 FLNA NM_001110556.2(FLNA):c.7152C>T (p.Asp2384=) SNV Likely benign 798098 rs1603358785 GRCh37: X:153579281-153579281
GRCh38: X:154350913-154350913
651 FLNA NM_001110556.2(FLNA):c.4023C>T (p.Pro1341=) SNV Likely benign 799555 rs1375431086 GRCh37: X:153587971-153587971
GRCh38: X:154359603-154359603
652 FLNA NM_001110556.2(FLNA):c.6289C>T (p.Leu2097=) SNV Likely benign 701296 rs782255283 GRCh37: X:153581230-153581230
GRCh38: X:154352862-154352862
653 FLNA NM_001110556.2(FLNA):c.2280+9A>G SNV Likely benign 701354 rs1603362191 GRCh37: X:153592381-153592381
GRCh38: X:154364013-154364013
654 FLNA NM_001110556.2(FLNA):c.5271G>A (p.Leu1757=) SNV Likely benign 519880 rs782031542 GRCh37: X:153583026-153583026
GRCh38: X:154354658-154354658
655 FLNA NM_001110556.2(FLNA):c.5978G>A (p.Arg1993Gln) SNV Likely benign 519890 rs782401919 GRCh37: X:153581708-153581708
GRCh38: X:154353340-154353340
656 FLNA NM_001110556.2(FLNA):c.1665G>A (p.Thr555=) SNV Likely benign 703609 rs782376419 GRCh37: X:153593530-153593530
GRCh38: X:154365162-154365162
657 FLNA NM_001110556.2(FLNA):c.6273C>T (p.Asp2091=) SNV Likely benign 704290 rs781913265 GRCh37: X:153581246-153581246
GRCh38: X:154352878-154352878
658 FLNA NM_001110556.2(FLNA):c.441C>T (p.His147=) SNV Likely benign 712273 rs781951563 GRCh37: X:153596391-153596391
GRCh38: X:154368023-154368023
659 FLNA NM_001110556.2(FLNA):c.60C>T (p.Gly20=) SNV Likely benign 737777 rs1557180245 GRCh37: X:153599554-153599554
GRCh38: X:154371186-154371186
660 FLNA NM_001110556.2(FLNA):c.988-10C>T SNV Likely benign 745533 rs1603362942 GRCh37: X:153595017-153595017
GRCh38: X:154366649-154366649
661 FLNA NM_001110556.2(FLNA):c.4236C>T (p.Val1412=) SNV Likely benign 753103 rs782589572 GRCh37: X:153587681-153587681
GRCh38: X:154359313-154359313
662 FLNA NM_001110556.2(FLNA):c.3378C>T (p.Tyr1126=) SNV Likely benign 758011 rs782643175 GRCh37: X:153588785-153588785
GRCh38: X:154360417-154360417
663 FLNA NM_001110556.2(FLNA):c.3306G>T (p.Leu1102=) SNV Likely benign 758532 rs782062750 GRCh37: X:153588857-153588857
GRCh38: X:154360489-154360489
664 FLNA NM_001110556.2(FLNA):c.3805+10C>T SNV Likely benign 761043 rs1603361041 GRCh37: X:153588348-153588348
GRCh38: X:154359980-154359980
665 FLNA NM_001110556.2(FLNA):c.237G>T (p.Ala79=) SNV Likely benign 761585 rs200626788 GRCh37: X:153599377-153599377
GRCh38: X:154371009-154371009
666 FLNA NM_001110556.2(FLNA):c.2838C>T (p.Gly946=) SNV Likely benign 695948 rs782612987 GRCh37: X:153590144-153590144
GRCh38: X:154361776-154361776
667 FLNA NM_001110556.2(FLNA):c.141C>T (p.Asn47=) SNV Likely benign 696049 rs1603363922 GRCh37: X:153599473-153599473
GRCh38: X:154371105-154371105
668 FLNA NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=) SNV Likely benign 698094 rs781846478 GRCh37: X:153585848-153585848
GRCh38: X:154357480-154357480
669 FLNA NM_001110556.2(FLNA):c.3695C>T (p.Thr1232Ile) SNV Likely benign 698162 rs782495669 GRCh37: X:153588468-153588468
GRCh38: X:154360100-154360100
670 FLNA NM_001110556.2(FLNA):c.3429C>A (p.Thr1143=) SNV Likely benign 699063 rs183899917 GRCh37: X:153588734-153588734
GRCh38: X:154360366-154360366
671 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) SNV Likely benign 208878 rs369717556 GRCh37: X:153577258-153577258
GRCh38: X:154348890-154348890
672 FLNA NM_001110556.2(FLNA):c.3843C>T (p.Asp1281=) SNV Likely benign 699529 rs367931067 GRCh37: X:153588236-153588236
GRCh38: X:154359868-154359868
673 FLNA NM_001110556.2(FLNA):c.1932C>T (p.Ala644=) SNV Likely benign 699603 rs1221420896 GRCh37: X:153592984-153592984
GRCh38: X:154364616-154364616
674 FLNA NM_001110556.2(FLNA):c.720+8C>T SNV Likely benign 699810 rs371927910 GRCh37: X:153596001-153596001
GRCh38: X:154367633-154367633
675 FLNA NM_001110556.2(FLNA):c.3996C>T (p.Asp1332=) SNV Likely benign 699862 rs782414490 GRCh37: X:153587998-153587998
GRCh38: X:154359630-154359630
676 FLNA NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=) SNV Likely benign 699931 rs782313331 GRCh37: X:153583014-153583014
GRCh38: X:154354646-154354646
677 FLNA NM_001110556.2(FLNA):c.1260C>T (p.Ile420=) SNV Likely benign 699959 rs1351119633 GRCh37: X:153594561-153594561
GRCh38: X:154366193-154366193
678 FLNA NM_001110556.2(FLNA):c.108G>A (p.Ala36=) SNV Likely benign 700017 rs782572024 GRCh37: X:153599506-153599506
GRCh38: X:154371138-154371138
679 FLNA NM_001110556.2(FLNA):c.2023-5G>A SNV Likely benign 695667 rs782694533 GRCh37: X:153592745-153592745
GRCh38: X:154364377-154364377
680 FLNA NM_001110556.2(FLNA):c.6238C>T (p.Leu2080Phe) SNV Likely benign 697725 rs782157246 GRCh37: X:153581281-153581281
GRCh38: X:154352913-154352913
681 FLNA NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile) SNV Likely benign 213499 rs200673062 GRCh37: X:153593246-153593246
GRCh38: X:154364878-154364878
682 FLNA NM_001110556.2(FLNA):c.1429+9G>A SNV Likely benign 701132 rs782226711 GRCh37: X:153594383-153594383
GRCh38: X:154366015-154366015
683 FLNA NM_001110556.2(FLNA):c.6657G>A (p.Gln2219=) SNV Likely benign 701242 rs1210861581 GRCh37: X:153580661-153580661
GRCh38: X:154352293-154352293
684 FLNA NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp) SNV Likely benign 213475 rs782563345 GRCh37: X:153586817-153586817
GRCh38: X:154358449-154358449
685 FLNA NM_001110556.2(FLNA):c.4344G>A (p.Ala1448=) SNV Likely benign 533593 rs782529594 GRCh37: X:153587482-153587482
GRCh38: X:154359114-154359114
686 FLNA NM_001110556.2(FLNA):c.6951C>T (p.Pro2317=) SNV Likely benign 435196 rs782356784 GRCh37: X:153580021-153580021
GRCh38: X:154351653-154351653
687 FLNA NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=) SNV Likely benign 533598 rs782080545 GRCh37: X:153587458-153587458
GRCh38: X:154359090-154359090
688 FLNA NM_001110556.2(FLNA):c.333C>T (p.Leu111=) SNV Likely benign 533589 rs782684723 GRCh37: X:153599281-153599281
GRCh38: X:154370913-154370913
689 FLNA NM_001110556.2(FLNA):c.5952G>A (p.Thr1984=) SNV Likely benign 533590 rs782618234 GRCh37: X:153581734-153581734
GRCh38: X:154353366-154353366
690 FLNA NM_001110556.2(FLNA):c.6219C>T (p.Arg2073=) SNV Likely benign 465009 rs782365685 GRCh37: X:153581376-153581376
GRCh38: X:154353008-154353008
691 FLNA NM_001110556.2(FLNA):c.1815C>T (p.Asp605=) SNV Likely benign 464976 rs781821848 GRCh37: X:153593202-153593202
GRCh38: X:154364834-154364834
692 FLNA NM_001110556.2(FLNA):c.5861-9C>T SNV Likely benign 465004 rs782153045 GRCh37: X:153581834-153581834
GRCh38: X:154353466-154353466
693 FLNA NM_001110556.2(FLNA):c.1120G>A (p.Val374Met) SNV Likely benign 464972 rs201681328 GRCh37: X:153594784-153594784
GRCh38: X:154366416-154366416
694 FLNA NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe) SNV Likely benign 465005 rs190712778 GRCh37: X:153581775-153581775
GRCh38: X:154353407-154353407
695 FLNA NM_001110556.2(FLNA):c.2310C>T (p.Asn770=) SNV Likely benign 413411 rs202109957 GRCh37: X:153591123-153591123
GRCh38: X:154362755-154362755
696 FLNA NM_001110556.2(FLNA):c.4945+3G>A SNV Likely benign 464998 rs372673802 GRCh37: X:153585799-153585799
GRCh38: X:154357431-154357431
697 FLNA NM_001110556.2(FLNA):c.6612C>T (p.Pro2204=) SNV Likely benign 447343 rs375499070 GRCh37: X:153580706-153580706
GRCh38: X:154352338-154352338
698 FLNA NM_001110556.2(FLNA):c.4755+5G>A SNV Likely benign 464996 rs199803218 GRCh37: X:153586562-153586562
GRCh38: X:154358194-154358194
699 FLNA NM_001110556.2(FLNA):c.2405-4G>A SNV Likely benign 239016 rs368187218 GRCh37: X:153590950-153590950
GRCh38: X:154362582-154362582
700 FLNA NM_001110556.2(FLNA):c.3612G>A (p.Pro1204=) SNV Likely benign 239019 rs782273962 GRCh37: X:153588551-153588551
GRCh38: X:154360183-154360183
701 FLNA NM_001110556.2(FLNA):c.3255C>T (p.Pro1085=) SNV Likely benign 413400 rs782231907 GRCh37: X:153588908-153588908
GRCh38: X:154360540-154360540
702 FLNA NM_001110556.2(FLNA):c.4155G>T (p.Thr1385=) SNV Likely benign 413401 rs782110572 GRCh37: X:153587762-153587762
GRCh38: X:154359394-154359394
703 FLNA NM_001110556.2(FLNA):c.6984G>A (p.Pro2328=) SNV Likely benign 413393 rs374786760 GRCh37: X:153579988-153579988
GRCh38: X:154351620-154351620
704 ARFGEF2 NM_006420.3(ARFGEF2):c.*1603A>G SNV Likely benign 338724 rs138230360 GRCh37: 20:47651339-47651339
GRCh38: 20:49034802-49034802
705 FLNA NM_001110556.2(FLNA):c.5610C>T (p.Ala1870=) SNV Likely benign 533594 rs782040591 GRCh37: X:153582359-153582359
GRCh38: X:154353991-154353991
706 FLNA NM_001110556.2(FLNA):c.2505G>A (p.Thr835=) SNV Likely benign 533596 rs782013801 GRCh37: X:153590846-153590846
GRCh38: X:154362478-154362478
707 FLNA NM_001110556.2(FLNA):c.3768C>T (p.Ser1256=) SNV Likely benign 533600 rs782528841 GRCh37: X:153588395-153588395
GRCh38: X:154360027-154360027
708 FLNA NM_001110556.2(FLNA):c.6564C>G (p.Ala2188=) SNV Likely benign 533601 rs782053327 GRCh37: X:153580754-153580754
GRCh38: X:154352386-154352386
709 FLNA NM_001110556.2(FLNA):c.3225G>A (p.Pro1075=) SNV Likely benign 519892 rs782292169 GRCh37: X:153588938-153588938
GRCh38: X:154360570-154360570
710 FLNA NM_001110556.2(FLNA):c.3864C>T (p.Thr1288=) SNV Likely benign 533602 rs374068639 GRCh37: X:153588215-153588215
GRCh38: X:154359847-154359847
711 FLNA NM_001110556.2(FLNA):c.93C>T (p.Thr31=) SNV Likely benign 533603 rs1436289913 GRCh37: X:153599521-153599521
GRCh38: X:154371153-154371153
712 FLNA NM_001110556.2(FLNA):c.2706T>C (p.Ala902=) SNV Likely benign 533604 rs781842762 GRCh37: X:153590467-153590467
GRCh38: X:154362099-154362099
713 FLNA NM_001110556.2(FLNA):c.7164T>C (p.Tyr2388=) SNV Likely benign 533606 rs1557175472 GRCh37: X:153578568-153578568
GRCh38: X:154350200-154350200
714 FLNA NM_001110556.2(FLNA):c.6540C>T (p.Ser2180=) SNV Likely benign 413407 rs781992483 GRCh37: X:153580778-153580778
GRCh38: X:154352410-154352410
715 FLNA NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp) SNV Likely benign 519869 rs200116438 GRCh37: X:153593210-153593210
GRCh38: X:154364842-154364842
716 FLNA NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val) SNV Likely benign 650395 rs782262202 GRCh37: X:153593830-153593830
GRCh38: X:154365462-154365462
717 FLNA NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn) SNV Likely benign 657730 rs782477734 GRCh37: X:153580942-153580942
GRCh38: X:154352574-154352574
718 FLNA NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser) SNV Likely benign 659516 rs375038091 GRCh37: X:153592487-153592487
GRCh38: X:154364119-154364119
719 FLNA NM_001110556.2(FLNA):c.7089G>A (p.Ala2363=) SNV Likely benign 698513 rs781843787 GRCh37: X:153579344-153579344
GRCh38: X:154350976-154350976
720 FLNA NM_001110556.2(FLNA):c.2650C>T (p.Arg884Cys) SNV Likely benign 835218 GRCh37: X:153590616-153590616
GRCh38: X:154362248-154362248
721 FLNA NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys) SNV Likely benign 547382 rs782546714 GRCh37: X:153589789-153589789
GRCh38: X:154361421-154361421
722 FLNA NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) SNV Likely benign 617640 rs781928289 GRCh37: X:153588145-153588145
GRCh38: X:154359777-154359777
723 FLNA NM_001110556.2(FLNA):c.4595G>A (p.Arg1532Gln) SNV Likely benign 948621 GRCh37: X:153586816-153586816
GRCh38: X:154358448-154358448
724 ERMARD NM_018341.3(ERMARD):c.313G>C (p.Glu105Gln) SNV Likely benign 977896 GRCh37: 6:170155516-170155516
GRCh38: 6:169755420-169755420
725 FLNA NM_001110556.2(FLNA):c.543G>C (p.Pro181=) SNV Likely benign 465000 rs201486643 GRCh37: X:153596289-153596289
GRCh38: X:154367921-154367921
726 FLNA NM_001110556.2(FLNA):c.7275T>C (p.His2425=) SNV Likely benign 465018 rs781857682 GRCh37: X:153578457-153578457
GRCh38: X:154350089-154350089
727 FLNA NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=) SNV Likely benign 93759 rs398123618 GRCh37: X:153587654-153587654
GRCh38: X:154359286-154359286
728 FLNA NM_001110556.2(FLNA):c.444C>T (p.Tyr148=) SNV Likely benign 464992 rs935727195 GRCh37: X:153596388-153596388
GRCh38: X:154368020-154368020
729 FLNA NM_001110556.2(FLNA):c.6891T>C (p.Tyr2297=) SNV Likely benign 465014 rs1557175875 GRCh37: X:153580268-153580268
GRCh38: X:154351900-154351900
730 FLNA NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) SNV Likely benign 533577 rs782400832 GRCh37: X:153581143-153581143
GRCh38: X:154352775-154352775
731 FLNA NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) SNV Likely benign 508448 rs1026564714 GRCh37: X:153578406-153578406
GRCh38: X:154350038-154350038
732 FLNA NM_001110556.2(FLNA):c.2027A>G (p.Lys676Arg) SNV Likely benign 510570 rs781798819 GRCh37: X:153592736-153592736
GRCh38: X:154364368-154364368
733 FLNA NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=) SNV Likely benign 93754 rs398123615 GRCh37: X:153589736-153589736
GRCh38: X:154361368-154361368
734 FLNA NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser) SNV Likely benign 213477 rs373089783 GRCh37: X:153582823-153582823
GRCh38: X:154354455-154354455
735 FLNA NM_001110556.2(FLNA):c.7365C>G (p.Ser2455Arg) SNV Likely benign 465019 rs199677057 GRCh37: X:153578204-153578204
GRCh38: X:154349836-154349836
736 FLNA NM_001110556.2(FLNA):c.4017C>T (p.Pro1339=) SNV Likely benign 464987 rs781934382 GRCh37: X:153587977-153587977
GRCh38: X:154359609-154359609
737 FLNA NM_001110556.2(FLNA):c.622+10C>T SNV Likely benign 383145 rs781889769 GRCh37: X:153596200-153596200
GRCh38: X:154367832-154367832
738 FLNA NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) SNV Likely benign 213481 rs375205247 GRCh37: X:153581169-153581169
GRCh38: X:154352801-154352801
739 FLNA NM_001110556.2(FLNA):c.1902C>T (p.Arg634=) SNV Likely benign 513767 rs782136908 GRCh37: X:153593014-153593014
GRCh38: X:154364646-154364646
740 FLNA NM_001110556.2(FLNA):c.2205C>T (p.Tyr735=) SNV Likely benign 213440 rs782551055 GRCh37: X:153592465-153592465
GRCh38: X:154364097-154364097
741 FLNA NM_001110556.2(FLNA):c.2019C>T (p.Asp673=) SNV Likely benign 516074 rs1557178734 GRCh37: X:153592897-153592897
GRCh38: X:154364529-154364529
742 FLNA NM_001110556.2(FLNA):c.7305C>T (p.Tyr2435=) SNV Likely benign 264309 rs782750091 GRCh37: X:153578427-153578427
GRCh38: X:154350059-154350059
743 FLNA NM_001110556.2(FLNA):c.2178C>T (p.Asn726=) SNV Likely benign 129068 rs371501734 GRCh37: X:153592492-153592492
GRCh38: X:154364124-154364124
744 FLNA NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) SNV Likely benign 167081 rs182074603 GRCh37: X:153587738-153587738
GRCh38: X:154359370-154359370
745 FLNA NM_001110556.2(FLNA):c.2472C>T (p.Phe824=) SNV Likely benign 377883 rs782669943 GRCh37: X:153590879-153590879
GRCh38: X:154362511-154362511
746 FLNA NM_001110556.2(FLNA):c.2454C>T (p.Ala818=) SNV Likely benign 390773 rs374672498 GRCh37: X:153590897-153590897
GRCh38: X:154362529-154362529
747 FLNA NM_001110556.2(FLNA):c.2001C>T (p.Pro667=) SNV Likely benign 264350 rs782344845 GRCh37: X:153592915-153592915
GRCh38: X:154364547-154364547
748 FLNA NM_001110556.2(FLNA):c.373+10G>A SNV Likely benign 513979 rs368292402 GRCh37: X:153599231-153599231
GRCh38: X:154370863-154370863
749 FLNA NM_001110556.2(FLNA):c.5973G>A (p.Ser1991=) SNV Likely benign 386549 rs375252292 GRCh37: X:153581713-153581713
GRCh38: X:154353345-154353345
750 FLNA NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) SNV Likely benign 213500 rs201093148 GRCh37: X:153593204-153593204
GRCh38: X:154364836-154364836
751 FLNA NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=) SNV Likely benign 289282 rs201153928 GRCh37: X:153579979-153579979
GRCh38: X:154351611-154351611
752 FLNA NM_001110556.2(FLNA):c.1229-8C>T SNV Likely benign 385096 rs376190976 GRCh37: X:153594600-153594600
GRCh38: X:154366232-154366232
753 FLNA NM_001110556.2(FLNA):c.3573G>A (p.Ala1191=) SNV Likely benign 379321 rs782300292 GRCh37: X:153588590-153588590
GRCh38: X:154360222-154360222
754 FLNA NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=) SNV Likely benign 213455 rs368746337 GRCh37: X:153578159-153578159
GRCh38: X:154349791-154349791
755 FLNA NM_001110556.2(FLNA):c.5292C>T (p.Ala1764=) SNV Likely benign 514664 rs1027131950 GRCh37: X:153583005-153583005
GRCh38: X:154354637-154354637
756 FLNA NM_001110556.2(FLNA):c.999C>T (p.Thr333=) SNV Likely benign 512809 rs1167180795 GRCh37: X:153594996-153594996
GRCh38: X:154366628-154366628
757 FLNA NM_001110556.2(FLNA):c.957C>T (p.Tyr319=) SNV Likely benign 388254 rs373561030 GRCh37: X:153595130-153595130
GRCh38: X:154366762-154366762
758 FLNA NM_001110556.2(FLNA):c.4824C>T (p.Tyr1608=) SNV Likely benign 514467 rs781789823 GRCh37: X:153585923-153585923
GRCh38: X:154357555-154357555
759 FLNA NM_001110556.2(FLNA):c.1038C>T (p.Tyr346=) SNV Likely benign 384906 rs1057522072 GRCh37: X:153594957-153594957
GRCh38: X:154366589-154366589
760 ARFGEF2 NM_006420.3(ARFGEF2):c.1425+11C>T SNV Likely benign 338687 rs74970217 GRCh37: 20:47587902-47587902
GRCh38: 20:48971365-48971365
761 FLNA NM_001110556.2(FLNA):c.3939C>T (p.Gly1313=) SNV Likely benign 413406 rs374178910 GRCh37: X:153588140-153588140
GRCh38: X:154359772-154359772
762 FLNA NM_001110556.2(FLNA):c.5313+4C>T SNV Likely benign 213452 rs377330443 GRCh37: X:153582980-153582980
GRCh38: X:154354612-154354612
763 FLNA NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr) SNV Likely benign 380416 rs201073998 GRCh37: X:153591044-153591044
GRCh38: X:154362676-154362676
764 FLNA NM_001110556.2(FLNA):c.6217C>T (p.Arg2073Cys) SNV Likely benign 465008 rs782069230 GRCh37: X:153581378-153581378
GRCh38: X:154353010-154353010
765 ARFGEF2 NM_006420.3(ARFGEF2):c.423+3A>G SNV Likely benign 128440 rs2295029 GRCh37: 20:47568009-47568009
GRCh38: 20:48951472-48951472
766 FLNA NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val) SNV Likely benign 405459 rs374295965 GRCh37: X:153592919-153592919
GRCh38: X:154364551-154364551
767 FLNA NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) SNV Likely benign 213451 rs56102764 GRCh37: X:153583046-153583046
GRCh38: X:154354678-154354678
768 FLNA NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) SNV Likely benign 197062 rs200524526 GRCh37: X:153581011-153581011
GRCh38: X:154352643-154352643
769 FLNA NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met) SNV Likely benign 449178 rs782555986 GRCh37: X:153583272-153583272
GRCh38: X:154354904-154354904
770 FLNA NM_001110556.2(FLNA):c.5559A>C (p.Gly1853=) SNV Likely benign 507825 rs372028899 GRCh37: X:153582410-153582410
GRCh38: X:154354042-154354042
771 FLNA NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) SNV Likely benign 137386 rs201488545 GRCh37: X:153588164-153588164
GRCh38: X:154359796-154359796
772 FLNA NM_001110556.2(FLNA):c.5151G>A (p.Pro1717=) SNV Likely benign 519871 rs782646183 GRCh37: X:153583259-153583259
GRCh38: X:154354891-154354891
773 FLNA NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) SNV Benign/Likely benign 193845 rs143873938 GRCh37: X:153593613-153593613
GRCh38: X:154365245-154365245
774 FLNA NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln) SNV Benign 213517 rs781915319 GRCh37: X:153594530-153594530
GRCh38: X:154366162-154366162
775 FLNA NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) SNV Benign 213436 rs201550267 GRCh37: X:153593301-153593301
GRCh38: X:154364933-154364933
776 FLNA NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) SNV Benign 190194 rs200130356 GRCh37: X:153587375-153587375
GRCh38: X:154359007-154359007
777 FLNA NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) SNV Benign 380386 rs375503410 GRCh37: X:153595772-153595772
GRCh38: X:154367404-154367404
778 FLNA NM_001110556.2(FLNA):c.2103C>T (p.His701=) SNV Benign 379636 rs200227077 GRCh37: X:153592660-153592660
GRCh38: X:154364292-154364292
779 FLNA NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) SNV Benign 264534 rs200615848 GRCh37: X:153587999-153587999
GRCh38: X:154359631-154359631
780 FLNA NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=) SNV Benign 465001 rs782204300 GRCh37: X:153582353-153582353
GRCh38: X:154353985-154353985
781 FLNA NM_001110556.2(FLNA):c.732C>T (p.Pro244=) SNV Benign 197728 rs371092631 GRCh37: X:153595901-153595901
GRCh38: X:154367533-154367533
782 FLNA NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) SNV Benign 377886 rs367979917 GRCh37: X:153585839-153585839
GRCh38: X:154357471-154357471
783 ARFGEF2 NM_006420.3(ARFGEF2):c.3663T>C (p.Gly1221=) SNV Benign 128437 rs2295580 GRCh37: 20:47626847-47626847
GRCh38: 20:49010310-49010310
784 FLNA NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) SNV Benign 213467 rs201656372 GRCh37: X:153590137-153590137
GRCh38: X:154361769-154361769
785 FLNA NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) SNV Benign 213441 rs201603843 GRCh37: X:153590835-153590835
GRCh38: X:154362467-154362467
786 FLNA NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) SNV Benign 129069 rs35986650 GRCh37: X:153590918-153590918
GRCh38: X:154362550-154362550
787 FLNA NM_001110556.2(FLNA):c.4598+8G>C SNV Benign 129074 rs112379782 GRCh37: X:153586805-153586805
GRCh38: X:154358437-154358437
788 FLNA NM_001110556.2(FLNA):c.1828+3A>G SNV Benign 390718 rs368041880 GRCh37: X:153593186-153593186
GRCh38: X:154364818-154364818
789 FLNA NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) Duplication Benign 213457 rs782721874 GRCh37: X:153599549-153599550
GRCh38: X:154371181-154371182
790 FLNA NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) SNV Benign 93770 rs1064822 GRCh37: X:153580676-153580676
GRCh38: X:154352308-154352308
791 FLNA NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) SNV Benign 385515 rs201458268 GRCh37: X:153583217-153583217
GRCh38: X:154354849-154354849
792 FLNA NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) SNV Benign 93763 rs61741041 GRCh37: X:153585827-153585827
GRCh38: X:154357459-154357459
793 FLNA NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=) SNV Benign 289609 rs370476531 GRCh37: X:153586860-153586860
GRCh38: X:154358492-154358492
794 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) SNV Benign 197542 rs76337075 GRCh37: X:153577800-153577800
GRCh38: X:154349432-154349432
795 FLNA NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) SNV Benign 213439 rs34510365 GRCh37: X:153592918-153592918
GRCh38: X:154364550-154364550
796 FLNA NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) SNV Benign 129073 rs34439033 GRCh37: X:153587684-153587684
GRCh38: X:154359316-154359316
797 FLNA NM_001110556.2(FLNA):c.663C>T (p.Pro221=) SNV Benign 93771 rs2073470 GRCh37: X:153596066-153596066
GRCh38: X:154367698-154367698
798 ARFGEF2 NM_006420.3(ARFGEF2):c.-94C>T SNV Benign 338676 rs2273101 GRCh37: 20:47538333-47538333
GRCh38: 20:48921796-48921796
799 FLNA NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) SNV Benign 213471 rs201908251 GRCh37: X:153588742-153588742
GRCh38: X:154360374-154360374
800 FLNA NM_001110556.2(FLNA):c.869-7C>T SNV Benign 93776 rs143311779 GRCh37: X:153595225-153595225
GRCh38: X:154366857-154366857
801 FLNA NM_001110556.2(FLNA):c.1429+8C>T SNV Benign 93750 rs202181557 GRCh37: X:153594384-153594384
GRCh38: X:154366016-154366016
802 FLNA NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) SNV Benign 264353 rs191786597 GRCh37: X:153586878-153586878
GRCh38: X:154358510-154358510
803 FLNA NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser) SNV Benign 213442 rs372718245 GRCh37: X:153590139-153590139
GRCh38: X:154361771-154361771
804 FLNA NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) SNV Benign 514430 rs782265007 GRCh37: X:153588202-153588202
GRCh38: X:154359834-154359834
805 FLNA NM_001110556.2(FLNA):c.6870C>T (p.Asp2290=) SNV Benign 379175 rs782651736 GRCh37: X:153580289-153580289
GRCh38: X:154351921-154351921
806 FLNA NM_001110556.2(FLNA):c.6048G>A (p.Thr2016=) SNV Benign 514722 rs782745205 GRCh37: X:153581547-153581547
GRCh38: X:154353179-154353179
807 FLNA NM_001110556.2(FLNA):c.4506C>T (p.Asn1502=) SNV Benign 507453 rs200857989 GRCh37: X:153586905-153586905
GRCh38: X:154358537-154358537
808 FLNA NM_001110556.2(FLNA):c.7553-10T>C SNV Benign 381299 rs782156724 GRCh37: X:153577943-153577943
GRCh38: X:154349575-154349575
809 FLNA NM_001110556.2(FLNA):c.2220G>A (p.Pro740=) SNV Benign 390772 rs202055800 GRCh37: X:153592450-153592450
GRCh38: X:154364082-154364082
810 FLNA NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) SNV Benign 502656 rs782320818 GRCh37: X:153594511-153594511
GRCh38: X:154366143-154366143
811 FLNA NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) SNV Benign 213459 rs375821223 GRCh37: X:153594951-153594951
GRCh38: X:154366583-154366583
812 FLNA NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) SNV Benign 129063 rs200787122 GRCh37: X:153582380-153582380
GRCh38: X:154354012-154354012
813 FLNA NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=) SNV Benign 264582 rs201203814 GRCh37: X:153580036-153580036
GRCh38: X:154351668-154351668
814 FLNA NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) SNV Benign 197408 rs199802825 GRCh37: X:153580802-153580802
GRCh38: X:154352434-154352434
815 FLNA NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys) SNV Benign 507275 rs202109957 GRCh37: X:153591123-153591123
GRCh38: X:154362755-154362755
816 FLNA NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) SNV Benign 195670 rs199530601 GRCh37: X:153588878-153588878
GRCh38: X:154360510-154360510
817 FLNA NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) SNV Benign 213485 rs200198847 GRCh37: X:153578465-153578465
GRCh38: X:154350097-154350097
818 FLNA NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) SNV Benign 93772 rs113510895 GRCh37: X:153580576-153580576
GRCh38: X:154352208-154352208
819 FLNA NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) SNV Benign 194196 rs200660642 GRCh37: X:153593041-153593041
GRCh38: X:154364673-154364673
820 FLNA NM_001110556.2(FLNA):c.3876C>T (p.His1292=) SNV Benign 195739 rs199917719 GRCh37: X:153588203-153588203
GRCh38: X:154359835-154359835
821 FLNA NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys) SNV Benign 514294 rs782673341 GRCh37: X:153594494-153594494
GRCh38: X:154366126-154366126
822 FLNA NM_001110556.2(FLNA):c.1692-10G>A SNV Benign 507263 rs199740539 GRCh37: X:153593335-153593335
GRCh38: X:154364967-154364967
823 FLNA NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) SNV Benign 193845 rs143873938 GRCh37: X:153593613-153593613
GRCh38: X:154365245-154365245
824 FLNA NM_001110556.2(FLNA):c.1691+7C>A SNV Benign 129066 rs199565118 GRCh37: X:153593497-153593497
GRCh38: X:154365129-154365129
825 FLNA NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) SNV Benign 197518 rs200195310 GRCh37: X:153578063-153578063
GRCh38: X:154349695-154349695
826 FLNA NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) SNV Benign 197499 rs201168500 GRCh37: X:153578510-153578510
GRCh38: X:154350142-154350142
827 FLNA NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) SNV Benign 129065 rs201173693 GRCh37: X:153594728-153594728
GRCh38: X:154366360-154366360
828 FLNA NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) SNV Benign 129077 rs74667788 GRCh37: X:153578135-153578135
GRCh38: X:154349767-154349767
829 FLNA NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) SNV Benign 129072 rs35015603 GRCh37: X:153588473-153588473
GRCh38: X:154360105-154360105
830 FLNA NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) SNV Benign 129076 rs12008807 GRCh37: X:153578508-153578508
GRCh38: X:154350140-154350140
831 FLNA NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) SNV Benign 129071 rs79391751 GRCh37: X:153588893-153588893
GRCh38: X:154360525-154360525
832 FLNA NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) SNV Benign 129067 rs73638274 GRCh37: X:153592948-153592948
GRCh38: X:154364580-154364580
833 FLNA NM_001110556.2(FLNA):c.942A>G (p.Gly314=) SNV Benign 213458 rs200763980 GRCh37: X:153595145-153595145
GRCh38: X:154366777-154366777
834 FLNA NM_001110556.2(FLNA):c.6503-9A>G SNV Benign 465013 rs781919390 GRCh37: X:153580824-153580824
GRCh38: X:154352456-154352456
835 FLNA NM_001110556.2(FLNA):c.2023-6C>T SNV Benign 190186 rs372021340 GRCh37: X:153592746-153592746
GRCh38: X:154364378-154364378
836 FLNA NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=) SNV Benign 465002 rs182894587 GRCh37: X:153582311-153582311
GRCh38: X:154353943-154353943
837 FLNA NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) SNV Benign 264213 rs186619828 GRCh37: X:153588407-153588407
GRCh38: X:154360039-154360039
838 FLNA NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) SNV Benign 196111 rs201904661 GRCh37: X:153586585-153586585
GRCh38: X:154358217-154358217
839 FLNA NM_001110556.2(FLNA):c.753C>T (p.Asn251=) SNV Benign 381332 rs377507152 GRCh37: X:153595880-153595880
GRCh38: X:154367512-154367512
840 FLNA NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=) SNV Benign 213454 rs782129907 GRCh37: X:153578511-153578511
GRCh38: X:154350143-154350143
841 FLNA NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) SNV Benign 235716 rs782168634 GRCh37: X:153593845-153593845
GRCh38: X:154365477-154365477
842 FLNA NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) SNV Benign 517749 rs183899917 GRCh37: X:153588734-153588734
GRCh38: X:154360366-154360366
843 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) SNV Benign 413396 rs781993962 GRCh37: X:153577339-153577339
GRCh38: X:154348971-154348971
844 FLNA NM_001110556.2(FLNA):c.2313G>A (p.Lys771=) SNV Benign 533595 rs782741007 GRCh37: X:153591120-153591120
GRCh38: X:154362752-154362752
845 FLNA NM_001110556.2(FLNA):c.3420C>T (p.Phe1140=) SNV Benign 263933 rs782219300 GRCh37: X:153588743-153588743
GRCh38: X:154360375-154360375
846 FLNA NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) SNV Benign 413405 rs782152127 GRCh37: X:153583250-153583250
GRCh38: X:154354882-154354882
847 FLNA NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly) SNV Benign 405444 rs111516546 GRCh37: X:153593016-153593016
GRCh38: X:154364648-154364648
848 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7756+8A>G SNV Benign 167075 rs201663443 GRCh37: X:153577722-153577722
GRCh38: X:154349354-154349354
849 ARFGEF2 NM_006420.3(ARFGEF2):c.*494G>A SNV Benign 338715 rs55874131 GRCh37: 20:47650230-47650230
GRCh38: 20:49033693-49033693
850 ARFGEF2 NM_006420.3(ARFGEF2):c.*2602A>G SNV Benign 338738 rs707534 GRCh37: 20:47652338-47652338
GRCh38: 20:49035801-49035801
851 ARFGEF2 NM_006420.3(ARFGEF2):c.4131C>T (p.Ile1377=) SNV Benign 128438 rs2281582 GRCh37: 20:47630449-47630449
GRCh38: 20:49013912-49013912
852 ARFGEF2 NM_006420.3(ARFGEF2):c.*2518A>G SNV Benign 338736 rs707533 GRCh37: 20:47652254-47652254
GRCh38: 20:49035717-49035717
853 ARFGEF2 NM_006420.3(ARFGEF2):c.*237A>G SNV Benign 338713 rs3752257 GRCh37: 20:47649973-47649973
GRCh38: 20:49033436-49033436
854 ARFGEF2 NM_006420.3(ARFGEF2):c.*1756G>A SNV Benign 338726 rs6019602 GRCh37: 20:47651492-47651492
GRCh38: 20:49034955-49034955
855 FLNA NM_001110556.2(FLNA):c.423C>T (p.Ile141=) SNV Benign 464990 rs782198156 GRCh37: X:153596409-153596409
GRCh38: X:154368041-154368041
856 FLNA NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) SNV Benign 413404 rs368009936 GRCh37: X:153588659-153588659
GRCh38: X:154360291-154360291
857 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) SNV Benign 465023 rs200694807 GRCh37: X:153577890-153577890
GRCh38: X:154349522-154349522
858 FLNA NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=) SNV Benign 465016 rs782541746 GRCh37: X:153578565-153578565
GRCh38: X:154350197-154350197
859 FLNA NM_001110556.2(FLNA):c.2023-4C>G SNV Benign 257472 rs368719012 GRCh37: X:153592744-153592744
GRCh38: X:154364376-154364376
860 FLNA NM_001110556.2(FLNA):c.7023+10C>T SNV Benign 533591 rs782777494 GRCh37: X:153579939-153579939
GRCh38: X:154351571-154351571
861 FLNA NM_001110556.2(FLNA):c.768T>C (p.Ser256=) SNV Benign 533599 rs782357419 GRCh37: X:153595865-153595865
GRCh38: X:154367497-154367497
862 FLNA NM_001110556.2(FLNA):c.543G>A (p.Pro181=) SNV Benign 257473 rs201486643 GRCh37: X:153596289-153596289
GRCh38: X:154367921-154367921
863 FLNA NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) SNV Benign 435199 rs373625856 GRCh37: X:153588641-153588641
GRCh38: X:154360273-154360273
864 FLNA NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=) SNV Benign 519897 rs377579695 GRCh37: X:153588485-153588485
GRCh38: X:154360117-154360117
865 FLNA NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=) SNV Benign 533605 rs781917512 GRCh37: X:153588833-153588833
GRCh38: X:154360465-154360465
866 FLNA NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile) SNV Benign 282366 rs782007408 GRCh37: X:153594965-153594965
GRCh38: X:154366597-154366597
867 FLNA NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) SNV Benign 11774 rs137853319 GRCh37: X:153588207-153588207
GRCh38: X:154359839-154359839
868 FLNA NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) SNV Benign 439734 rs782253233 GRCh37: X:153582308-153582308
GRCh38: X:154353940-154353940
869 FLNA NM_001110556.2(FLNA):c.651C>T (p.Asp217=) SNV Benign 287592 rs34644500 GRCh37: X:153596078-153596078
GRCh38: X:154367710-154367710
870 FLNA NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp) SNV Benign 700137 rs782160183 GRCh37: X:153581685-153581685
GRCh38: X:154353317-154353317
871 FLNA NM_001110556.2(FLNA):c.5958T>C (p.Thr1986=) SNV Benign 588389 rs782787843 GRCh37: X:153581728-153581728
GRCh38: X:154353360-154353360
872 FLNA NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=) SNV Benign 283513 rs372863999 GRCh37: X:153583355-153583355
GRCh38: X:154354987-154354987
873 FLNA NM_001110556.2(FLNA):c.1881C>T (p.Gly627=) SNV Benign 589978 rs188138322 GRCh37: X:153593035-153593035
GRCh38: X:154364667-154364667
874 FLNA NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) SNV Benign 211015 rs372265042 GRCh37: X:153588446-153588446
GRCh38: X:154360078-154360078
875 FLNA NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser) SNV Benign 569957 rs782580317 GRCh37: X:153593324-153593324
GRCh38: X:154364956-154364956
876 FLNA NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala) SNV Benign 569958 rs781972123 GRCh37: X:153586912-153586912
GRCh38: X:154358544-154358544
877 FLNA NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=) SNV Benign 211020 rs781929535 GRCh37: X:153582019-153582019
GRCh38: X:154353651-154353651
878 FLNA NM_001110556.2(FLNA):c.5190C>T (p.His1730=) SNV Benign 435198 rs781793192 GRCh37: X:153583220-153583220
GRCh38: X:154354852-154354852
879 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys) SNV Benign 702664 rs782244918 GRCh37: X:153577928-153577928
GRCh38: X:154349560-154349560
880 FLNA NM_001110556.2(FLNA):c.958G>A (p.Val320Met) SNV Benign 701764 rs781889196 GRCh37: X:153595129-153595129
GRCh38: X:154366761-154366761
881 FLNA NM_001110556.2(FLNA):c.882A>G (p.Thr294=) SNV Benign 93777 rs184864998 GRCh37: X:153595205-153595205
GRCh38: X:154366837-154366837
882 FLNA NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=) SNV Benign 519875 rs367674709 GRCh37: X:153582067-153582067
GRCh38: X:154353699-154353699
883 FLNA NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) SNV Benign 497691 rs61730768 GRCh37: X:153593834-153593834
GRCh38: X:154365466-154365466
884 FLNA NM_001110556.2(FLNA):c.237G>C (p.Ala79=) SNV Benign 93751 rs200626788 GRCh37: X:153599377-153599377
GRCh38: X:154371009-154371009
885 FLNA NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg) SNV Benign 213506 rs782774182 GRCh37: X:153587912-153587912
GRCh38: X:154359544-154359544
886 FLNA NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser) SNV Benign 213480 rs200200745 GRCh37: X:153581205-153581205
GRCh38: X:154352837-154352837
887 FLNA NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) SNV Benign 377885 rs200258756 GRCh37: X:153588566-153588566
GRCh38: X:154360198-154360198
888 FLNA NM_001110556.2(FLNA):c.2023-8C>T SNV Benign 129061 rs587780335 GRCh37: X:153592748-153592748
GRCh38: X:154364380-154364380
889 FLNA NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) SNV Benign 211014 rs188212919 GRCh37: X:153590653-153590653
GRCh38: X:154362285-154362285
890 FLNA NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) SNV Benign 129059 rs200278701 GRCh37: X:153594582-153594582
GRCh38: X:154366214-154366214
891 FLNA NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) SNV Benign 213460 rs200048692 GRCh37: X:153594713-153594713
GRCh38: X:154366345-154366345
892 FLNA NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) SNV Benign 129075 rs140084263 GRCh37: X:153581968-153581968
GRCh38: X:154353600-154353600
893 FLNA NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) SNV Benign 213445 rs372874251 GRCh37: X:153588776-153588776
GRCh38: X:154360408-154360408
894 FLNA NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) SNV Benign 435207 rs782426283 GRCh37: X:153587685-153587685
GRCh38: X:154359317-154359317
895 FLNA NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=) SNV Benign 213449 rs183948518 GRCh37: X:153586917-153586917
GRCh38: X:154358549-154358549
896 FLNA NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) SNV Benign 129070 rs199911951 GRCh37: X:153590448-153590448
GRCh38: X:154362080-154362080
897 FLNA NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) SNV Benign 190196 rs200835571 GRCh37: X:153585881-153585881
GRCh38: X:154357513-154357513
898 FLNA NM_001110556.2(FLNA):c.5218-4G>A SNV Benign 289607 rs370196495 GRCh37: X:153583083-153583083
GRCh38: X:154354715-154354715
899 FLNA NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) SNV Benign 213510 rs782557713 GRCh37: X:153578119-153578119
GRCh38: X:154349751-154349751
900 FLNA NM_001110556.2(FLNA):c.6023-10C>G SNV Benign 211021 rs72616474 GRCh37: X:153581582-153581582
GRCh38: X:154353214-154353214
901 FLNA NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) SNV Benign 194727 rs200053635 GRCh37: X:153590902-153590902
GRCh38: X:154362534-154362534
902 FLNA NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) SNV Benign 93748 rs36051194 GRCh37: X:153594535-153594535
GRCh38: X:154366167-154366167
903 FLNA NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) SNV Benign 129062 rs370868704 GRCh37: X:153589838-153589838
GRCh38: X:154361470-154361470
904 FLNA NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) SNV Benign 129060 rs202029322 GRCh37: X:153593616-153593616
GRCh38: X:154365248-154365248
905 FLNA NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) SNV Benign 198468 rs199853721 GRCh37: X:153594966-153594966
GRCh38: X:154366598-154366598
906 FLNA NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) SNV Benign 93765 rs57108893 GRCh37: X:153583007-153583007
GRCh38: X:154354639-154354639
907 FLNA NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) SNV Benign 93753 rs17091204 GRCh37: X:153589848-153589848
GRCh38: X:154361480-154361480
908 FLNA NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) SNV Benign 93767 rs187029309 GRCh37: X:153581714-153581714
GRCh38: X:154353346-154353346
909 FLNA NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) SNV Benign 93757 rs398123617 GRCh37: X:153588784-153588784
GRCh38: X:154360416-154360416
910 FLNA NM_001110556.2(FLNA):c.1267C>T (p.Pro423Ser) SNV not provided 213516 rs863223643 GRCh37: X:153594554-153594554
GRCh38: X:154366186-154366186
911 ARFGEF2 NM_006420.2(ARFGEF2):c.1062_1067del (p.Glu354_Ser355del) Deletion not provided 434295 rs1555810077 GRCh37: 20:47585683-47585688
GRCh38: 20:48969146-48969151
912 FLNA NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) SNV not provided 440936 rs1557178957 GRCh37: X:153593624-153593624
GRCh38: X:154365256-154365256
913 FLNA NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) SNV not provided 213463 rs371707134 GRCh37: X:153592640-153592640
GRCh38: X:154364272-154364272

Expression for Nodular Neuronal Heterotopia

Search GEO for disease gene expression data for Nodular Neuronal Heterotopia.

Pathways for Nodular Neuronal Heterotopia

GO Terms for Nodular Neuronal Heterotopia

Cellular components related to Nodular Neuronal Heterotopia according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network GO:0005802 8.62 FLNA ARFGEF2

Sources for Nodular Neuronal Heterotopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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