MCID: HRD112
MIFTS: 24

Hereditary Thrombocytopenia with Normal Platelets

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Hereditary Thrombocytopenia with Normal Platelets

MalaCards integrated aliases for Hereditary Thrombocytopenia with Normal Platelets:

Name: Hereditary Thrombocytopenia with Normal Platelets 58

Characteristics:

Orphanet epidemiological data:

58
hereditary thrombocytopenia with normal platelets
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D69.4
Orphanet 58 ORPHA268322

Summaries for Hereditary Thrombocytopenia with Normal Platelets

MalaCards based summary : Hereditary Thrombocytopenia with Normal Platelets is related to platelet disorder, familial, with associated myeloid malignancy and blood platelet disease. An important gene associated with Hereditary Thrombocytopenia with Normal Platelets is ANKRD26 (Ankyrin Repeat Domain 26), and among its related pathways/superpathways are T cell receptor signaling pathway and TCR signaling (REACTOME). Affiliated tissues include t cells.

Related Diseases for Hereditary Thrombocytopenia with Normal Platelets

Diseases in the Autosomal Thrombocytopenia with Normal Platelets family:

Hereditary Thrombocytopenia with Normal Platelets

Diseases related to Hereditary Thrombocytopenia with Normal Platelets via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 4, show less)
# Related Disease Score Top Affiliating Genes
1 platelet disorder, familial, with associated myeloid malignancy 11.4
2 blood platelet disease 9.7 WAS ANKRD26
3 blood coagulation disease 9.6 WAS ANKRD26
4 thrombocytopenia 9.0 WAS FYB1 CYCS ANKRD26

Symptoms & Phenotypes for Hereditary Thrombocytopenia with Normal Platelets

Drugs & Therapeutics for Hereditary Thrombocytopenia with Normal Platelets

Search Clinical Trials , NIH Clinical Center for Hereditary Thrombocytopenia with Normal Platelets

Genetic Tests for Hereditary Thrombocytopenia with Normal Platelets

Anatomical Context for Hereditary Thrombocytopenia with Normal Platelets

MalaCards organs/tissues related to Hereditary Thrombocytopenia with Normal Platelets:

40
T Cells

Publications for Hereditary Thrombocytopenia with Normal Platelets

Articles related to Hereditary Thrombocytopenia with Normal Platelets:

(showing 65, show less)
# Title Authors PMID Year
1
When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura. 6
31354712 2019
2
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. 6
30051457 2018
3
Defective thymic output in WAS patients is associated with abnormal actin organization. 6
28931895 2017
4
Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein. 6
28641574 2017
5
A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases. 6
28623282 2017
6
Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome. 6
27566838 2017
7
SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells. 6
26261240 2015
8
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. 6
25792466 2015
9
Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation. 6
25931402 2015
10
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia. 6
25876182 2015
11
In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome. 6
25862925 2015
12
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. 6
25516138 2014
13
[Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome]. 6
25476427 2014
14
Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literature. 6
25332606 2014
15
Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome. 6
24210885 2014
16
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. 6
24326104 2014
17
A case of familial X-linked thrombocytopenia with a novel WAS gene mutation. 6
23807894 2013
18
Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome. 6
23033889 2013
19
Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration. 6
23160469 2013
20
Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome. 6
22426750 2012
21
Molecular basis of Wiskott-Aldrich syndrome in patients from India. 6
22679904 2012
22
Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. 6
22523910 2012
23
Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? 6
21710275 2011
24
Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia. 6
27264129 2011
25
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. 6
21185603 2011
26
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. 6
21211618 2011
27
[WASP gene mutation analysis of a family of X-linked thrombocytopenia]. 6
20959042 2010
28
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia. 6
20626622 2010
29
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. 6
20173115 2010
30
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. 6
19817875 2009
31
Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome. 6
19308710 2009
32
A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. 6
19006568 2009
33
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 6
18345000 2008
34
WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). 6
17213309 2007
35
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. 6
16804117 2006
36
A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4. 6
16562789 2006
37
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. 6
15284122 2004
38
Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan. 6
15497008 2004
39
Clinical course of patients with WASP gene mutations. 6
12969986 2004
40
WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. 6
14612666 2003
41
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. 6
12727931 2003
42
X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP). 6
12591280 2003
43
X-linked thrombocytopenia in a girl. 6
12199801 2002
44
Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations. 6
11793485 2002
45
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 6
11442475 2001
46
Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. 6
11298372 2001
47
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 6
11167787 2001
48
X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. 6
10691337 2000
49
Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome. 6
10653325 2000
50
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. 6
10521306 1999
51
Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 6
10575547 1999
52
Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein. 6
10202051 1999
53
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. 6
10447259 1999
54
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. 6
9326235 1997
55
Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome. 6
8931701 1996
56
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. 6
8682510 1996
57
Wiskott-Aldrich syndrome in a family with Fanconi anemia. 6
8757562 1996
58
Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. 6
8757563 1996
59
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. 6
7579347 1995
60
Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype. 6
8595430 1995
61
The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome. 6
8666397 1995
62
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 6
8528199 1995
63
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. 6
8528198 1995
64
Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene. 6
7753869 1995
65
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 6
7795648 1995

Variations for Hereditary Thrombocytopenia with Normal Platelets

ClinVar genetic disease variations for Hereditary Thrombocytopenia with Normal Platelets:

6 (showing 274, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYCS NM_018947.5(CYCS):c.124G>A (p.Gly42Ser) SNV Pathogenic 16917 rs121918552 GRCh37: 7:25163615-25163615
GRCh38: 7:25123996-25123996
2 ANKRD26 NM_014915.2(ANKRD26):c.-134G>A SNV Pathogenic 30853 rs863223318 GRCh37: 10:27389389-27389389
GRCh38: 10:27100460-27100460
3 ANKRD26 ANKRD26, -127A-T SNV Pathogenic 30854 GRCh37:
GRCh38:
4 ANKRD26 ANKRD26, -128G-A SNV Pathogenic 30855 GRCh37:
GRCh38:
5 CYCS NM_018947.5(CYCS):c.145T>C (p.Tyr49His) SNV Pathogenic 180656 rs886037737 GRCh37: 7:25163594-25163594
GRCh38: 7:25123975-25123975
6 FYB1 NM_001465.6(FYB1):c.393G>A (p.Trp131Ter) SNV Pathogenic 417971 rs745672593 GRCh37: 5:39202670-39202670
GRCh38: 5:39202568-39202568
7 FYB1 NM_001465.6(FYB1):c.1383_1384AT[1] (p.Thr461_Tyr462insTer) Microsatellite Pathogenic 417970 rs1060505056 GRCh37: 5:39138767-39138768
GRCh38: 5:39138665-39138666
8 CYCS NM_018947.5(CYCS):c.301_303del (p.Lys101del) Deletion Pathogenic 599385 rs1562515878 GRCh37: 7:25163335-25163337
GRCh38: 7:25123716-25123718
9 WAS NM_000377.2(WAS):c.167C>T (p.Ala56Val) SNV Pathogenic 11116 rs132630269 GRCh37: X:48542706-48542706
GRCh38: X:48684317-48684317
10 WAS NM_000377.2(WAS):c.707C>G (p.Ala236Gly) SNV Pathogenic 11117 rs132630270 GRCh37: X:48545317-48545317
GRCh38: X:48686928-48686928
11 WAS WAS, 1-BP INS, 512C Insertion Pathogenic 11118 GRCh37:
GRCh38:
12 WAS WAS, IVS6DS, G-A, +5 SNV Pathogenic 11129 GRCh37:
GRCh38:
13 WAS NM_000377.2(WAS):c.413G>C (p.Arg138Pro) SNV Pathogenic 495847 rs139265251 GRCh37: X:48544175-48544175
GRCh38: X:48685786-48685786
14 WAS NM_000377.3(WAS):c.1423C>T (p.Gln475Ter) SNV Pathogenic 829893 rs1602180058 GRCh37: X:48547793-48547793
GRCh38: X:48689404-48689404
15 WAS NM_000377.2(WAS):c.134C>T (p.Thr45Met) SNV Pathogenic 11123 rs132630273 GRCh37: X:48542673-48542673
GRCh38: X:48684284-48684284
16 WAS NM_000377.2(WAS):c.777+1G>A SNV Pathogenic 372546 rs1057517845 GRCh37: X:48546486-48546486
GRCh38: X:48688097-48688097
17 WAS NM_000377.2(WAS):c.223G>A (p.Val75Met) SNV Pathogenic 265289 rs782290433 GRCh37: X:48542762-48542762
GRCh38: X:48684373-48684373
18 WAS NM_000377.2(WAS):c.257G>A (p.Arg86His) SNV Pathogenic 11115 rs132630268 GRCh37: X:48542796-48542796
GRCh38: X:48684407-48684407
19 WAS NM_000377.2(WAS):c.271C>T (p.Gln91Ter) SNV Pathogenic 528221 rs1557006354 GRCh37: X:48542810-48542810
GRCh38: X:48684421-48684421
20 WAS NM_000377.2(WAS):c.91G>A (p.Glu31Lys) SNV Pathogenic 528222 rs1557006239 GRCh37: X:48542333-48542333
GRCh38: X:48683944-48683944
21 WAS NM_000377.2(WAS):c.1001del (p.Gly334fs) Deletion Pathogenic 574368 rs1569494025 GRCh37: X:48547113-48547113
GRCh38: X:48688724-48688724
22 WAS NM_000377.2(WAS):c.734+2T>A SNV Pathogenic 577637 rs1569493877 GRCh37: X:48545346-48545346
GRCh38: X:48686957-48686957
23 WAS NM_000377.2(WAS):c.223G>A (p.Val75Met) SNV Pathogenic 265289 rs782290433 GRCh37: X:48542762-48542762
GRCh38: X:48684373-48684373
24 WAS NM_000377.2(WAS):c.660_664del (p.Ser221_Pro222insTer) Deletion Pathogenic 641614 rs1602178184 GRCh37: X:48545268-48545272
GRCh38: X:48686879-48686883
25 WAS NM_000377.2(WAS):c.470_471del (p.Arg157fs) Deletion Pathogenic 643344 rs1602177562 GRCh37: X:48544340-48544341
GRCh38: X:48685951-48685952
26 WAS NM_000377.3(WAS):c.858del (p.Ser287fs) Deletion Pathogenic 656534 rs1602179000 GRCh37: X:48546768-48546768
GRCh38: X:48688379-48688379
27 WAS NM_000377.2(WAS):c.355G>T (p.Gly119Ter) SNV Pathogenic 660964 rs1602177243 GRCh37: X:48544017-48544017
GRCh38: X:48685628-48685628
28 WAS NM_000377.2(WAS):c.961C>T (p.Arg321Ter) SNV Pathogenic 449515 rs1557007123 GRCh37: X:48547078-48547078
GRCh38: X:48688689-48688689
29 WAS NM_000377.2(WAS):c.-37_132+35del Deletion Pathogenic 663734 rs1602176146 GRCh37: X:48542204-48542407
GRCh38: X:48683815-48684018
30 WAS NM_000377.2(WAS):c.631C>T (p.Arg211Ter) SNV Pathogenic 647830 rs1602178165 GRCh37: X:48545241-48545241
GRCh38: X:48686852-48686852
31 WAS NM_000377.2(WAS):c.803delinsTT (p.Arg268fs) Indel Pathogenic 652576 rs1602178952 GRCh37: X:48546714-48546714
GRCh38: X:48688325-48688325
32 WAS NM_000377.3(WAS):c.1266_1267insG Duplication Pathogenic 495844 rs1557007312 GRCh37: X:48547383-48547384
GRCh38: X:48688994-48688995
33 WAS NC_000023.10:g.(?_48542233)_(48542384_?)del Deletion Pathogenic 832668 GRCh37: X:48542233-48542384
GRCh38:
34 WAS NM_000377.2(WAS):c.134C>T (p.Thr45Met) SNV Pathogenic 11123 rs132630273 GRCh37: X:48542673-48542673
GRCh38: X:48684284-48684284
35 WAS NM_000377.2(WAS):c.1453G>A (p.Asp485Asn) SNV Pathogenic 418541 rs1064793293 GRCh37: X:48547823-48547823
GRCh38: X:48689434-48689434
36 WAS NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) SNV Pathogenic 839782 GRCh37: X:48547207-48547207
GRCh38: X:48688818-48688818
37 WAS NM_000377.3(WAS):c.35dup (p.Arg13fs) Duplication Pathogenic 843981 GRCh37: X:48542272-48542273
GRCh38: X:48683883-48683884
38 WAS NM_000377.3(WAS):c.436del (p.Gln146fs) Deletion Pathogenic 853574 GRCh37: X:48544198-48544198
GRCh38: X:48685809-48685809
39 WAS NM_000377.3(WAS):c.238C>T (p.Gln80Ter) SNV Pathogenic 853840 GRCh37: X:48542777-48542777
GRCh38: X:48684388-48684388
40 WAS NM_000377.2(WAS):c.881T>C (p.Ile294Thr) SNV Pathogenic 29967 rs387906717 GRCh37: X:48546792-48546792
GRCh38: X:48688403-48688403
41 WAS NM_000377.3(WAS):c.1058dup (p.Pro354fs) Duplication Pathogenic 861115 GRCh37: X:48547170-48547171
GRCh38: X:48688781-48688782
42 WAS NM_000377.3(WAS):c.311_312insAA (p.Leu105fs) Insertion Pathogenic 862503 GRCh37: X:48543972-48543973
GRCh38: X:48685583-48685584
43 WAS NM_000377.2(WAS):c.37C>T (p.Arg13Ter) SNV Pathogenic 36911 rs193922415 GRCh37: X:48542279-48542279
GRCh38: X:48683890-48683890
44 WAS NM_000377.3(WAS):c.1266_1267insG Duplication Pathogenic 495844 rs1557007312 GRCh37: X:48547383-48547384
GRCh38: X:48688994-48688995
45 WAS NM_000377.3(WAS):c.256C>T (p.Arg86Cys) SNV Pathogenic 936334 GRCh37: X:48542795-48542795
GRCh38: X:48684406-48684406
46 WAS NM_000377.3(WAS):c.121C>T (p.Arg41Ter) SNV Pathogenic 945596 GRCh37: X:48542363-48542363
GRCh38: X:48683974-48683974
47 WAS NM_000377.3(WAS):c.302_303insC (p.Tyr102fs) Insertion Pathogenic 947868 GRCh37: X:48543964-48543965
GRCh38: X:48685575-48685576
48 WAS NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer) Duplication Pathogenic 949013 GRCh37: X:48547112-48547113
GRCh38: X:48688723-48688724
49 WAS NM_000377.3(WAS):c.692del (p.Lys231fs) Deletion Pathogenic 949935 GRCh37: X:48545301-48545301
GRCh38: X:48686912-48686912
50 WAS NM_000377.2(WAS):c.11del (p.Gly4fs) Deletion Pathogenic 11132 rs587776745 GRCh37: X:48542249-48542249
GRCh38: X:48683860-48683860
51 ANKRD26 NM_014915.2(ANKRD26):c.-126T>C SNV Pathogenic/Likely pathogenic 626941 rs1589393792 GRCh37: 10:27389381-27389381
GRCh38: 10:27100452-27100452
52 ANKRD26 NM_014915.2(ANKRD26):c.-119C>G SNV Likely pathogenic 434210 rs1554800065 GRCh37: 10:27389374-27389374
GRCh38: 10:27100445-27100445
53 ANKRD26 NM_014915.3(ANKRD26):c.2476G>T (p.Glu826Ter) SNV Likely pathogenic 828130 rs1589257502 GRCh37: 10:27326883-27326883
GRCh38: 10:27037954-27037954
54 WAS NM_000377.3(WAS):c.70T>C (p.Ser24Pro) SNV Likely pathogenic 834695 GRCh37: X:48542312-48542312
GRCh38: X:48683923-48683923
55 ANKRD26 NM_014915.2(ANKRD26):c.4636G>C (p.Asp1546His) SNV Conflicting interpretations of pathogenicity 434206 rs753924410 GRCh37: 10:27303511-27303511
GRCh38: 10:27014582-27014582
56 ANKRD26 NM_014915.2(ANKRD26):c.153C>G (p.His51Gln) SNV Conflicting interpretations of pathogenicity 210181 rs139049098 GRCh37: 10:27389103-27389103
GRCh38: 10:27100174-27100174
57 MASTL NM_001172303.3(MASTL):c.867T>A (p.Asn289Lys) SNV Uncertain significance 587604 rs535159862 GRCh37: 10:27456086-27456086
GRCh38: 10:27167157-27167157
58 ANKRD26 NM_014915.3(ANKRD26):c.*1351G>T SNV Uncertain significance 877156 GRCh37: 10:27293168-27293168
GRCh38: 10:27004239-27004239
59 ANKRD26 NM_014915.3(ANKRD26):c.*1243A>G SNV Uncertain significance 877157 GRCh37: 10:27293276-27293276
GRCh38: 10:27004347-27004347
60 ANKRD26 NM_014915.3(ANKRD26):c.1787C>T (p.Pro596Leu) SNV Uncertain significance 877276 GRCh37: 10:27337757-27337757
GRCh38: 10:27048828-27048828
61 ANKRD26 NM_014915.3(ANKRD26):c.1754G>C (p.Arg585Thr) SNV Uncertain significance 877277 GRCh37: 10:27337790-27337790
GRCh38: 10:27048861-27048861
62 ANKRD26 NM_014915.3(ANKRD26):c.*1169C>T SNV Uncertain significance 878190 GRCh37: 10:27293350-27293350
GRCh38: 10:27004421-27004421
63 ANKRD26 NM_014915.3(ANKRD26):c.*1029G>A SNV Uncertain significance 878191 GRCh37: 10:27293490-27293490
GRCh38: 10:27004561-27004561
64 ANKRD26 NM_014915.3(ANKRD26):c.*595G>A SNV Uncertain significance 878192 GRCh37: 10:27293924-27293924
GRCh38: 10:27004995-27004995
65 ANKRD26 NM_014915.3(ANKRD26):c.3896C>A (p.Ala1299Asp) SNV Uncertain significance 878251 GRCh37: 10:27317857-27317857
GRCh38: 10:27028928-27028928
66 ANKRD26 NM_014915.3(ANKRD26):c.565G>A (p.Gly189Arg) SNV Uncertain significance 877328 GRCh37: 10:27381408-27381408
GRCh38: 10:27092479-27092479
67 ANKRD26 NM_014915.3(ANKRD26):c.1492-6A>G SNV Uncertain significance 878315 GRCh37: 10:27349352-27349352
GRCh38: 10:27060423-27060423
68 ANKRD26 NM_014915.3(ANKRD26):c.3218T>C (p.Leu1073Pro) SNV Uncertain significance 878852 GRCh37: 10:27324161-27324161
GRCh38: 10:27035232-27035232
69 ANKRD26 NM_014915.3(ANKRD26):c.3216A>G (p.Lys1072=) SNV Uncertain significance 878853 GRCh37: 10:27324163-27324163
GRCh38: 10:27035234-27035234
70 ANKRD26 NM_014915.3(ANKRD26):c.3053A>G (p.His1018Arg) SNV Uncertain significance 878854 GRCh37: 10:27324326-27324326
GRCh38: 10:27035397-27035397
71 ANKRD26 NM_014915.3(ANKRD26):c.*566G>A SNV Uncertain significance 879641 GRCh37: 10:27293953-27293953
GRCh38: 10:27005024-27005024
72 ANKRD26 NM_014915.3(ANKRD26):c.*482A>C SNV Uncertain significance 879642 GRCh37: 10:27294037-27294037
GRCh38: 10:27005108-27005108
73 ANKRD26 NM_014915.3(ANKRD26):c.*69T>C SNV Uncertain significance 879643 GRCh37: 10:27294450-27294450
GRCh38: 10:27005521-27005521
74 ANKRD26 NM_014915.3(ANKRD26):c.426G>A (p.Ala142=) SNV Uncertain significance 878355 GRCh37: 10:27382383-27382383
GRCh38: 10:27093454-27093454
75 ANKRD26 NM_014915.3(ANKRD26):c.319A>G (p.Asn107Asp) SNV Uncertain significance 878356 GRCh37: 10:27382652-27382652
GRCh38: 10:27093723-27093723
76 ANKRD26 NM_014915.3(ANKRD26):c.1327G>A (p.Gly443Arg) SNV Uncertain significance 878896 GRCh37: 10:27352953-27352953
GRCh38: 10:27064024-27064024
77 ANKRD26 NM_014915.3(ANKRD26):c.4725-15C>T SNV Uncertain significance 880009 GRCh37: 10:27302054-27302054
GRCh38: 10:27013125-27013125
78 ANKRD26 NM_014915.3(ANKRD26):c.4595A>G (p.Asp1532Gly) SNV Uncertain significance 880010 GRCh37: 10:27303552-27303552
GRCh38: 10:27014623-27014623
79 ANKRD26 NM_014915.2(ANKRD26):c.*8G>T SNV Uncertain significance 299725 rs886046943 GRCh37: 10:27294511-27294511
GRCh38: 10:27005582-27005582
80 ANKRD26 NM_014915.2(ANKRD26):c.*170G>A SNV Uncertain significance 299722 rs377417678 GRCh37: 10:27294349-27294349
GRCh38: 10:27005420-27005420
81 ANKRD26 NM_014915.2(ANKRD26):c.-138C>G SNV Uncertain significance 299770 rs886046950 GRCh37: 10:27389393-27389393
GRCh38: 10:27100464-27100464
82 ANKRD26 NM_014915.2(ANKRD26):c.*704C>G SNV Uncertain significance 299719 rs886046940 GRCh37: 10:27293815-27293815
GRCh38: 10:27004886-27004886
83 ANKRD26 NM_001256053.1(ANKRD26):c.979_982TCAA[1] (p.Ile328fs) Microsatellite Uncertain significance 299753 rs749858810 GRCh37: 10:27366358-27366361
GRCh38: 10:27077429-27077432
84 ANKRD26 NM_014915.2(ANKRD26):c.1439T>C (p.Val480Ala) SNV Uncertain significance 299747 rs886046947 GRCh37: 10:27350096-27350096
GRCh38: 10:27061167-27061167
85 ANKRD26 NM_014915.2(ANKRD26):c.*1170G>A SNV Uncertain significance 299714 rs886046939 GRCh37: 10:27293349-27293349
GRCh38: 10:27004420-27004420
86 ANKRD26 NM_014915.2(ANKRD26):c.4284A>C (p.Gln1428His) SNV Uncertain significance 299730 rs771059446 GRCh37: 10:27306653-27306653
GRCh38: 10:27017724-27017724
87 ANKRD26 NM_014915.2(ANKRD26):c.50C>T (p.Ala17Val) SNV Uncertain significance 299766 rs886046948 GRCh37: 10:27389206-27389206
GRCh38: 10:27100277-27100277
88 ANKRD26 NM_014915.2(ANKRD26):c.*142G>A SNV Uncertain significance 299723 rs886046942 GRCh37: 10:27294377-27294377
GRCh38: 10:27005448-27005448
89 ANKRD26 NM_014915.2(ANKRD26):c.1176T>C (p.Tyr392=) SNV Uncertain significance 299751 rs368451975 GRCh37: 10:27356117-27356117
GRCh38: 10:27067188-27067188
90 ANKRD26 NM_014915.2(ANKRD26):c.1727del (p.Asp576fs) Deletion Uncertain significance 299744 rs886046946 GRCh37: 10:27337817-27337817
GRCh38: 10:27048888-27048888
91 ANKRD26 NM_014915.2(ANKRD26):c.789C>G (p.Asp263Glu) SNV Uncertain significance 299757 rs777702991 GRCh37: 10:27368042-27368042
GRCh38: 10:27079113-27079113
92 ANKRD26 NM_014915.2(ANKRD26):c.*566G>T SNV Uncertain significance 299720 rs149300287 GRCh37: 10:27293953-27293953
GRCh38: 10:27005024-27005024
93 ANKRD26 NM_014915.2(ANKRD26):c.3940G>A (p.Glu1314Lys) SNV Uncertain significance 299732 rs886046945 GRCh37: 10:27317813-27317813
GRCh38: 10:27028884-27028884
94 ANKRD26 NM_014915.2(ANKRD26):c.1269+7T>A SNV Uncertain significance 299750 rs201014646 GRCh37: 10:27355409-27355409
GRCh38: 10:27066480-27066480
95 ANKRD26 NM_014915.2(ANKRD26):c.93G>A (p.Gly31=) SNV Uncertain significance 299765 rs746535031 GRCh37: 10:27389163-27389163
GRCh38: 10:27100234-27100234
96 ANKRD26 NM_014915.2(ANKRD26):c.-4G>A SNV Uncertain significance 299767 rs779013762 GRCh37: 10:27389259-27389259
GRCh38: 10:27100330-27100330
97 ANKRD26 NM_014915.2(ANKRD26):c.*530C>G SNV Uncertain significance 299721 rs886046941 GRCh37: 10:27293989-27293989
GRCh38: 10:27005060-27005060
98 ANKRD26 NM_014915.2(ANKRD26):c.-135A>C SNV Uncertain significance 299769 rs373811579 GRCh37: 10:27389390-27389390
GRCh38: 10:27100461-27100461
99 ANKRD26 NM_014915.2(ANKRD26):c.-172A>T SNV Uncertain significance 299771 rs886046951 GRCh37: 10:27389427-27389427
GRCh38: 10:27100498-27100498
100 ANKRD26 NM_014915.2(ANKRD26):c.4808C>G (p.Thr1603Ser) SNV Uncertain significance 299727 rs886046944 GRCh37: 10:27301956-27301956
GRCh38: 10:27013027-27013027
101 MASTL NM_001172303.3(MASTL):c.501G>C (p.Glu167Asp) SNV Uncertain significance 2469 rs28941470 GRCh37: 10:27450059-27450059
GRCh38: 10:27161130-27161130
102 ANKRD26 NM_014915.2(ANKRD26):c.739A>T (p.Arg247Trp) SNV Uncertain significance 299758 rs765170468 GRCh37: 10:27371733-27371733
GRCh38: 10:27082804-27082804
103 ANKRD26 NM_014915.2(ANKRD26):c.*1174C>G SNV Uncertain significance 299713 rs886046938 GRCh37: 10:27293345-27293345
GRCh38: 10:27004416-27004416
104 WAS NM_000377.3(WAS):c.458G>T (p.Ser153Ile) SNV Uncertain significance 934472 GRCh37: X:48544220-48544220
GRCh38: X:48685831-48685831
105 WAS NM_000377.3(WAS):c.142A>C (p.Thr48Pro) SNV Uncertain significance 935749 GRCh37: X:48542681-48542681
GRCh38: X:48684292-48684292
106 WAS NM_000377.3(WAS):c.874G>A (p.Asp292Asn) SNV Uncertain significance 853116 GRCh37: X:48546785-48546785
GRCh38: X:48688396-48688396
107 WAS NM_000377.3(WAS):c.164T>C (p.Leu55Pro) SNV Uncertain significance 947482 GRCh37: X:48542703-48542703
GRCh38: X:48684314-48684314
108 WAS NM_000377.3(WAS):c.1391A>G (p.Glu464Gly) SNV Uncertain significance 945050 GRCh37: X:48547761-48547761
GRCh38: X:48689372-48689372
109 WAS NM_000377.3(WAS):c.1112C>T (p.Pro371Leu) SNV Uncertain significance 954359 GRCh37: X:48547229-48547229
GRCh38: X:48688840-48688840
110 WAS NM_000377.3(WAS):c.1316G>C (p.Arg439Pro) SNV Uncertain significance 950368 GRCh37: X:48547433-48547433
GRCh38: X:48689044-48689044
111 WAS NM_000377.3(WAS):c.1219G>A (p.Gly407Arg) SNV Uncertain significance 958225 GRCh37: X:48547336-48547336
GRCh38: X:48688947-48688947
112 WAS NM_000377.3(WAS):c.1199C>T (p.Pro400Leu) SNV Uncertain significance 962220 GRCh37: X:48547316-48547316
GRCh38: X:48688927-48688927
113 WAS NM_000377.3(WAS):c.412C>T (p.Arg138Trp) SNV Uncertain significance 967135 GRCh37: X:48544174-48544174
GRCh38: X:48685785-48685785
114 WAS NM_000377.3(WAS):c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly) Indel Uncertain significance 972434 GRCh37: X:48547389-48547394
GRCh38: X:48689000-48689005
115 WAS NM_000377.3(WAS):c.925C>T (p.Arg309Cys) SNV Uncertain significance 998525 GRCh37: X:48546836-48546836
GRCh38: X:48688447-48688447
116 WAS NM_000377.3(WAS):c.1482AGATGA[1] (p.494ED[1]) Microsatellite Uncertain significance 998734 GRCh37: X:48549521-48549526
GRCh38: X:48691130-48691135
117 WAS NC_000023.10:g.(?_48549478)_(48549573_?)dup Duplication Uncertain significance 999030 GRCh37: X:48549478-48549573
GRCh38:
118 WAS NM_000377.3(WAS):c.726T>G (p.Ser242Arg) SNV Uncertain significance 1003460 GRCh37: X:48545336-48545336
GRCh38: X:48686947-48686947
119 WAS NM_000377.3(WAS):c.296A>C (p.Gln99Pro) SNV Uncertain significance 1004544 GRCh37: X:48543958-48543958
GRCh38: X:48685569-48685569
120 WAS NM_000377.3(WAS):c.1075C>T (p.Pro359Ser) SNV Uncertain significance 1010931 GRCh37: X:48547192-48547192
GRCh38: X:48688803-48688803
121 WAS NM_000377.3(WAS):c.844A>G (p.Thr282Ala) SNV Uncertain significance 1013735 GRCh37: X:48546755-48546755
GRCh38: X:48688366-48688366
122 WAS NM_000377.3(WAS):c.802C>T (p.Arg268Trp) SNV Uncertain significance 1018255 GRCh37: X:48546713-48546713
GRCh38: X:48688324-48688324
123 WAS NM_000377.3(WAS):c.1156C>T (p.Pro386Ser) SNV Uncertain significance 1023401 GRCh37: X:48547273-48547273
GRCh38: X:48688884-48688884
124 WAS NM_000377.3(WAS):c.533C>T (p.Pro178Leu) SNV Uncertain significance 1024099 GRCh37: X:48544497-48544497
GRCh38: X:48686108-48686108
125 WAS NM_000377.3(WAS):c.926G>A (p.Arg309His) SNV Uncertain significance 1025486 GRCh37: X:48546837-48546837
GRCh38: X:48688448-48688448
126 WAS NM_000377.3(WAS):c.274-9C>G SNV Uncertain significance 1026089 GRCh37: X:48543927-48543927
GRCh38: X:48685538-48685538
127 ANKRD26 NM_014915.3(ANKRD26):c.244A>G (p.Thr82Ala) SNV Uncertain significance 1030442 GRCh37: 10:27382727-27382727
GRCh38: 10:27093798-27093798
128 FYB1 NM_001465.6(FYB1):c.2434A>C (p.Asn812His) SNV Uncertain significance 1031985 GRCh37: 5:39110459-39110459
GRCh38: 5:39110357-39110357
129 CYCS NM_018947.6(CYCS):c.170-3T>C SNV Uncertain significance 1032049 GRCh37: 7:25163471-25163471
GRCh38: 7:25123852-25123852
130 ANKRD26 NM_014915.3(ANKRD26):c.1537A>G (p.Met513Val) SNV Uncertain significance 1033717 GRCh37: 10:27349301-27349301
GRCh38: 10:27060372-27060372
131 ANKRD26 NM_014915.3(ANKRD26):c.371A>T (p.Gln124Leu) SNV Uncertain significance 1033718 GRCh37: 10:27382438-27382438
GRCh38: 10:27093509-27093509
132 WAS NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup) Duplication Uncertain significance 1037693 GRCh37: X:48547314-48547315
GRCh38: X:48688925-48688926
133 WAS NM_000377.3(WAS):c.1476C>T (p.Gly492=) SNV Uncertain significance 1039215 GRCh37: X:48549520-48549520
GRCh38: X:48691129-48691129
134 WAS NM_000377.3(WAS):c.1130G>A (p.Arg377His) SNV Uncertain significance 1039519 GRCh37: X:48547247-48547247
GRCh38: X:48688858-48688858
135 WAS NM_000377.3(WAS):c.982C>T (p.Arg328Trp) SNV Uncertain significance 998348 GRCh37: X:48547099-48547099
GRCh38: X:48688710-48688710
136 WAS NM_000377.3(WAS):c.227A>C (p.Lys76Thr) SNV Uncertain significance 1044219 GRCh37: X:48542766-48542766
GRCh38: X:48684377-48684377
137 WAS NM_000377.3(WAS):c.989C>T (p.Pro330Leu) SNV Uncertain significance 1045126 GRCh37: X:48547106-48547106
GRCh38: X:48688717-48688717
138 WAS NM_000377.3(WAS):c.1400_1404del (p.Val467fs) Deletion Uncertain significance 1047298 GRCh37: X:48547768-48547772
GRCh38: X:48689379-48689383
139 WAS NM_000377.3(WAS):c.962G>A (p.Arg321Gln) SNV Uncertain significance 1047669 GRCh37: X:48547079-48547079
GRCh38: X:48688690-48688690
140 WAS NM_000377.3(WAS):c.946C>A (p.Pro316Thr) SNV Uncertain significance 863583 GRCh37: X:48547063-48547063
GRCh38: X:48688674-48688674
141 WAS NM_000377.3(WAS):c.172C>A (p.Pro58Thr) SNV Uncertain significance 844399 GRCh37: X:48542711-48542711
GRCh38: X:48684322-48684322
142 WAS NM_000377.3(WAS):c.1174C>A (p.Pro392Thr) SNV Uncertain significance 844565 GRCh37: X:48547291-48547291
GRCh38: X:48688902-48688902
143 WAS NM_000377.3(WAS):c.1252G>A (p.Ala418Thr) SNV Uncertain significance 844715 GRCh37: X:48547369-48547369
GRCh38: X:48688980-48688980
144 WAS NM_000377.3(WAS):c.1310A>C (p.Gln437Pro) SNV Uncertain significance 836794 GRCh37: X:48547427-48547427
GRCh38: X:48689038-48689038
145 WAS NM_000377.3(WAS):c.1477G>A (p.Asp493Asn) SNV Uncertain significance 834399 GRCh37: X:48549521-48549521
GRCh38: X:48691130-48691130
146 WAS NC_000023.10:g.(?_48549478)_(48549573_?)dup Duplication Uncertain significance 831887 GRCh37: X:48549478-48549573
GRCh38:
147 WAS NC_000023.10:g.(?_48542223)_(48549573_?)dup Duplication Uncertain significance 831991 GRCh37: X:48542223-48549573
GRCh38:
148 WAS NM_000377.2(WAS):c.266G>A (p.Gly89Asp) SNV Uncertain significance 656066 rs139857045 GRCh37: X:48542805-48542805
GRCh38: X:48684416-48684416
149 WAS NM_000377.2(WAS):c.459T>G (p.Ser153Arg) SNV Uncertain significance 657456 rs1557006590 GRCh37: X:48544221-48544221
GRCh38: X:48685832-48685832
150 WAS NM_000377.2(WAS):c.1196C>G (p.Pro399Arg) SNV Uncertain significance 658817 rs1602179582 GRCh37: X:48547313-48547313
GRCh38: X:48688924-48688924
151 WAS NM_000377.2(WAS):c.679C>T (p.Arg227Cys) SNV Uncertain significance 660462 rs1395882218 GRCh37: X:48545289-48545289
GRCh38: X:48686900-48686900
152 WAS NM_000377.2(WAS):c.463+3G>C SNV Uncertain significance 647802 rs1274245256 GRCh37: X:48544228-48544228
GRCh38: X:48685839-48685839
153 WAS NM_000377.2(WAS):c.559+8C>G SNV Uncertain significance 640549 rs1602177756 GRCh37: X:48544531-48544531
GRCh38: X:48686142-48686142
154 WAS NM_000377.2(WAS):c.1060_1062delCCA Microsatellite Uncertain significance 577977 rs1569494034 GRCh37: X:48547174-48547176
GRCh38: X:48688785-48688787
155 WAS NM_000377.2(WAS):c.344A>G (p.His115Arg) SNV Uncertain significance 578369 rs1569493774 GRCh37: X:48544006-48544006
GRCh38: X:48685617-48685617
156 WAS NM_000377.2(WAS):c.1208C>T (p.Pro403Leu) SNV Uncertain significance 444802 rs782666797 GRCh37: X:48547325-48547325
GRCh38: X:48688936-48688936
157 WAS NM_000377.2(WAS):c.49G>T (p.Ala17Ser) SNV Uncertain significance 566587 rs1569493673 GRCh37: X:48542291-48542291
GRCh38: X:48683902-48683902
158 WAS NM_000377.2(WAS):c.689A>G (p.Lys230Arg) SNV Uncertain significance 574035 rs1569493872 GRCh37: X:48545299-48545299
GRCh38: X:48686910-48686910
159 WAS NM_000377.2(WAS):c.985C>G (p.Pro329Ala) SNV Uncertain significance 528223 rs1557007136 GRCh37: X:48547102-48547102
GRCh38: X:48688713-48688713
160 WAS NM_000377.2(WAS):c.97C>G (p.Gln33Glu) SNV Uncertain significance 566906 rs1569493682 GRCh37: X:48542339-48542339
GRCh38: X:48683950-48683950
161 WAS NM_000377.2(WAS):c.565_566delinsAG (p.Pro189Arg) Indel Uncertain significance 566949 rs1569493862 GRCh37: X:48545175-48545176
GRCh38: X:48686786-48686787
162 WAS NM_000377.2(WAS):c.482C>A (p.Pro161Gln) SNV Uncertain significance 567234 rs1569493803 GRCh37: X:48544353-48544353
GRCh38: X:48685964-48685964
163 ANKRD26 NM_014915.3(ANKRD26):c.-138C>A SNV Uncertain significance 880167 GRCh37: 10:27389393-27389393
GRCh38: 10:27100464-27100464
164 ANKRD26 NM_014915.3(ANKRD26):c.3686C>T (p.Ala1229Val) SNV Uncertain significance 930454 GRCh37: 10:27322275-27322275
GRCh38: 10:27033346-27033346
165 ANKRD26 NM_014915.3(ANKRD26):c.5102_5106del (p.Val1701fs) Deletion Uncertain significance 992979 GRCh37: 10:27294546-27294550
GRCh38: 10:27005617-27005621
166 WAS NM_000377.2(WAS):c.1255C>A (p.Leu419Met) SNV Likely benign 567298 rs1422863482 GRCh37: X:48547372-48547372
GRCh38: X:48688983-48688983
167 WAS NM_000377.2(WAS):c.897G>A (p.Gly299=) SNV Likely benign 528224 rs782793103 GRCh37: X:48546808-48546808
GRCh38: X:48688419-48688419
168 WAS NM_000377.2(WAS):c.360+8A>G SNV Likely benign 528225 rs1557006508 GRCh37: X:48544030-48544030
GRCh38: X:48685641-48685641
169 WAS NM_000377.3(WAS):c.1197A>G (p.Pro399=) SNV Likely benign 699162 rs1602179584 GRCh37: X:48547314-48547314
GRCh38: X:48688925-48688925
170 WAS NM_000377.3(WAS):c.339C>T (p.Phe113=) SNV Likely benign 701065 rs782233413 GRCh37: X:48544001-48544001
GRCh38: X:48685612-48685612
171 WAS NM_000377.3(WAS):c.1253C>T (p.Ala418Val) SNV Likely benign 696934 rs781903491 GRCh37: X:48547370-48547370
GRCh38: X:48688981-48688981
172 WAS NM_000377.3(WAS):c.390C>T (p.Asp130=) SNV Likely benign 697928 rs782593697 GRCh37: X:48544152-48544152
GRCh38: X:48685763-48685763
173 WAS NM_000377.3(WAS):c.141C>T (p.Ala47=) SNV Likely benign 798024 rs1602176588 GRCh37: X:48542680-48542680
GRCh38: X:48684291-48684291
174 ANKRD26 NM_014915.2(ANKRD26):c.452A>C (p.His151Pro) SNV Likely benign 299760 rs752031374 GRCh37: 10:27382357-27382357
GRCh38: 10:27093428-27093428
175 ANKRD26 NM_014915.2(ANKRD26):c.1565-4T>C SNV Likely benign 299746 rs747570982 GRCh37: 10:27342323-27342323
GRCh38: 10:27053394-27053394
176 ANKRD26 NM_014915.2(ANKRD26):c.3367A>G (p.Asn1123Asp) SNV Likely benign 299735 rs746125031 GRCh37: 10:27324012-27324012
GRCh38: 10:27035083-27035083
177 ANKRD26 NM_014915.2(ANKRD26):c.269A>G (p.Asn90Ser) SNV Likely benign 299762 rs752629436 GRCh37: 10:27382702-27382702
GRCh38: 10:27093773-27093773
178 ANKRD26 NM_014915.2(ANKRD26):c.3704A>T (p.Gln1235Leu) SNV Likely benign 299733 rs765506121 GRCh37: 10:27322257-27322257
GRCh38: 10:27033328-27033328
179 ANKRD26 NM_014915.3(ANKRD26):c.1213A>G (p.Met405Val) SNV Likely benign 878898 GRCh37: 10:27355472-27355472
GRCh38: 10:27066543-27066543
180 ANKRD26 NM_014915.3(ANKRD26):c.1364A>G (p.Asp455Gly) SNV Likely benign 878895 GRCh37: 10:27350171-27350171
GRCh38: 10:27061242-27061242
181 ANKRD26 NM_014915.3(ANKRD26):c.5060A>T (p.Asn1687Ile) SNV Likely benign 880008 GRCh37: 10:27294592-27294592
GRCh38: 10:27005663-27005663
182 ANKRD26 NM_014915.3(ANKRD26):c.-51T>A SNV Likely benign 880165 GRCh37: 10:27389306-27389306
GRCh38: 10:27100377-27100377
183 WAS NM_000377.2(WAS):c.538C>A (p.His180Asn) SNV Likely benign 36912 rs145040665 GRCh37: X:48544502-48544502
GRCh38: X:48686113-48686113
184 ANKRD26 NM_014915.3(ANKRD26):c.-77C>G SNV Benign 880166 GRCh37: 10:27389332-27389332
GRCh38: 10:27100403-27100403
185 ANKRD26 NM_014915.3(ANKRD26):c.5086G>A (p.Ala1696Thr) SNV Benign 880007 GRCh37: 10:27294566-27294566
GRCh38: 10:27005637-27005637
186 ANKRD26 NM_014915.2(ANKRD26):c.92G>C (p.Gly31Ala) SNV Benign 434205 rs199849785 GRCh37: 10:27389164-27389164
GRCh38: 10:27100235-27100235
187 ANKRD26 NM_014915.3(ANKRD26):c.40G>A (p.Gly14Ser) SNV Benign 712488 rs201068693 GRCh37: 10:27389216-27389216
GRCh38: 10:27100287-27100287
188 ANKRD26 NM_014915.3(ANKRD26):c.3G>A (p.Met1Ile) SNV Benign 878948 GRCh37: 10:27389253-27389253
GRCh38: 10:27100324-27100324
189 ANKRD26 NM_014915.3(ANKRD26):c.1219G>A (p.Ala407Thr) SNV Benign 878897 GRCh37: 10:27355466-27355466
GRCh38: 10:27066537-27066537
190 ANKRD26 NM_014915.3(ANKRD26):c.141C>A (p.Leu47=) SNV Benign 878357 GRCh37: 10:27389115-27389115
GRCh38: 10:27100186-27100186
191 ANKRD26 NM_014915.3(ANKRD26):c.2697+9A>G SNV Benign 880061 GRCh37: 10:27326106-27326106
GRCh38: 10:27037177-27037177
192 ANKRD26 NM_014915.2(ANKRD26):c.2679A>G (p.Gln893=) SNV Benign 260463 rs61730098 GRCh37: 10:27326133-27326133
GRCh38: 10:27037204-27037204
193 ANKRD26 NM_014915.3(ANKRD26):c.2584C>G (p.Gln862Glu) SNV Benign 880062 GRCh37: 10:27326228-27326228
GRCh38: 10:27037299-27037299
194 ANKRD26 NM_014915.2(ANKRD26):c.2332G>C (p.Glu778Gln) SNV Benign 434202 rs139949439 GRCh37: 10:27328937-27328937
GRCh38: 10:27040008-27040008
195 ANKRD26 NM_014915.3(ANKRD26):c.2232T>A (p.Asn744Lys) SNV Benign 880063 GRCh37: 10:27329037-27329037
GRCh38: 10:27040108-27040108
196 ANKRD26 NM_014915.3(ANKRD26):c.1133A>G (p.Glu378Gly) SNV Benign 712487 rs186243874 GRCh37: 10:27356160-27356160
GRCh38: 10:27067231-27067231
197 ANKRD26 NM_014915.3(ANKRD26):c.937G>A (p.Asp313Asn) SNV Benign 880122 GRCh37: 10:27366407-27366407
GRCh38: 10:27077478-27077478
198 ANKRD26 NM_014915.3(ANKRD26):c.756G>A (p.Pro252=) SNV Benign 880123 GRCh37: 10:27368075-27368075
GRCh38: 10:27079146-27079146
199 ANKRD26 NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) SNV Benign 777851 rs41304587 GRCh37: 10:27324372-27324372
GRCh38: 10:27035443-27035443
200 ANKRD26 NM_014915.3(ANKRD26):c.1451T>C (p.Val484Ala) SNV Benign 714308 rs201461870 GRCh37: 10:27350084-27350084
GRCh38: 10:27061155-27061155
201 ANKRD26 NM_014915.2(ANKRD26):c.542C>T (p.Thr181Ile) SNV Benign 434204 rs191015656 GRCh37: 10:27381431-27381431
GRCh38: 10:27092502-27092502
202 ANKRD26 NM_014915.3(ANKRD26):c.531+9C>G SNV Benign 877329 GRCh37: 10:27382269-27382269
GRCh38: 10:27093340-27093340
203 ANKRD26 NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) SNV Benign 878252 GRCh37: 10:27322306-27322306
GRCh38: 10:27033377-27033377
204 ANKRD26 NM_014915.3(ANKRD26):c.1747C>G (p.Gln583Glu) SNV Benign 878314 GRCh37: 10:27337797-27337797
GRCh38: 10:27048868-27048868
205 ANKRD26 NM_014915.2(ANKRD26):c.1571A>G (p.His524Arg) SNV Benign 210182 rs199656285 GRCh37: 10:27342313-27342313
GRCh38: 10:27053384-27053384
206 ANKRD26 NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser) SNV Benign 877327 GRCh37: 10:27375498-27375498
GRCh38: 10:27086569-27086569
207 ANKRD26 NM_014915.2(ANKRD26):c.576G>A (p.Gln192=) SNV Benign 260471 rs41279942 GRCh37: 10:27381397-27381397
GRCh38: 10:27092468-27092468
208 ANKRD26 NM_014915.3(ANKRD26):c.4490T>A (p.Val1497Asp) SNV Benign 877210 GRCh37: 10:27306447-27306447
GRCh38: 10:27017518-27017518
209 ANKRD26 NM_014915.2(ANKRD26):c.4259G>A (p.Cys1420Tyr) SNV Benign 210184 rs146159734 GRCh37: 10:27306678-27306678
GRCh38: 10:27017749-27017749
210 ANKRD26 NM_014915.3(ANKRD26):c.2210G>T (p.Arg737Ile) SNV Benign 877273 GRCh37: 10:27329059-27329059
GRCh38: 10:27040130-27040130
211 ANKRD26 NM_014915.3(ANKRD26):c.2170A>C (p.Ser724Arg) SNV Benign 717238 rs141748831 GRCh37: 10:27329099-27329099
GRCh38: 10:27040170-27040170
212 ANKRD26 NM_014915.3(ANKRD26):c.2005A>G (p.Asn669Asp) SNV Benign 877274 GRCh37: 10:27333100-27333100
GRCh38: 10:27044171-27044171
213 ANKRD26 NM_014915.3(ANKRD26):c.1970A>T (p.Asp657Val) SNV Benign 877275 GRCh37: 10:27335297-27335297
GRCh38: 10:27046368-27046368
214 ANKRD26 NM_014915.2(ANKRD26):c.-140C>G SNV Benign 260453 rs41299222 GRCh37: 10:27389395-27389395
GRCh38: 10:27100466-27100466
215 CYCS NM_018947.5(CYCS):c.-6T>G SNV Benign 261063 rs11267038 GRCh37: 7:25163744-25163744
GRCh38: 7:25124125-25124125
216 ANKRD26 NM_014915.2(ANKRD26):c.1868G>A (p.Arg623Gln) SNV Benign 299743 rs28477279 GRCh37: 10:27335399-27335399
GRCh38: 10:27046470-27046470
217 ANKRD26 NM_014915.2(ANKRD26):c.793G>A (p.Asp265Asn) SNV Benign 299756 rs61730101 GRCh37: 10:27368038-27368038
GRCh38: 10:27079109-27079109
218 ANKRD26 NM_014915.2(ANKRD26):c.101C>T (p.Ala34Val) SNV Benign 299764 rs368560982 GRCh37: 10:27389155-27389155
GRCh38: 10:27100226-27100226
219 ANKRD26 NM_014915.2(ANKRD26):c.*1212G>A SNV Benign 299711 rs66931439 GRCh37: 10:27293307-27293307
GRCh38: 10:27004378-27004378
220 ANKRD26 NM_014915.2(ANKRD26):c.332A>G (p.Asn111Ser) SNV Benign 299761 rs79092403 GRCh37: 10:27382639-27382639
GRCh38: 10:27093710-27093710
221 ANKRD26 NM_014915.2(ANKRD26):c.3384G>A (p.Lys1128=) SNV Benign 260465 rs41299210 GRCh37: 10:27323995-27323995
GRCh38: 10:27035066-27035066
222 ANKRD26 NM_014915.2(ANKRD26):c.2978A>C (p.Glu993Ala) SNV Benign 260464 rs61745662 GRCh37: 10:27324401-27324401
GRCh38: 10:27035472-27035472
223 ANKRD26 NM_014915.2(ANKRD26):c.2559+10T>A SNV Benign 299739 rs768668962 GRCh37: 10:27326790-27326790
GRCh38: 10:27037861-27037861
224 ANKRD26 NM_014915.2(ANKRD26):c.3972+3A>G SNV Benign 260468 rs72807627 GRCh37: 10:27317778-27317778
GRCh38: 10:27028849-27028849
225 ANKRD26 NM_014915.2(ANKRD26):c.*904C>A SNV Benign 299717 rs11015449 GRCh37: 10:27293615-27293615
GRCh38: 10:27004686-27004686
226 ANKRD26 NM_014915.2(ANKRD26):c.3655-4T>C SNV Benign 299734 rs200124932 GRCh37: 10:27322310-27322310
GRCh38: 10:27033381-27033381
227 ANKRD26 NM_014915.2(ANKRD26):c.3286C>T (p.Arg1096Trp) SNV Benign 299736 rs367849518 GRCh37: 10:27324093-27324093
GRCh38: 10:27035164-27035164
228 ANKRD26 NM_014915.2(ANKRD26):c.1273A>G (p.Ile425Val) SNV Benign 260457 rs12359281 GRCh37: 10:27353007-27353007
GRCh38: 10:27064078-27064078
229 ANKRD26 NM_014915.2(ANKRD26):c.*1012C>A SNV Benign 299716 rs540664871 GRCh37: 10:27293507-27293507
GRCh38: 10:27004578-27004578
230 ANKRD26 NM_014915.2(ANKRD26):c.1207+15A>G SNV Benign 260455 rs115864032 GRCh37: 10:27356071-27356071
GRCh38: 10:27067142-27067142
231 ANKRD26 NM_014915.2(ANKRD26):c.59A>G (p.Gln20Arg) SNV Benign 260472 rs7897309 GRCh37: 10:27389197-27389197
GRCh38: 10:27100268-27100268
232 ANKRD26 NM_014915.2(ANKRD26):c.624A>G (p.Val208=) SNV Benign 260473 rs2297145 GRCh37: 10:27381349-27381349
GRCh38: 10:27092420-27092420
233 ANKRD26 NM_014915.2(ANKRD26):c.2787C>T (p.Asp929=) SNV Benign 299738 rs370940054 GRCh37: 10:27324592-27324592
GRCh38: 10:27035663-27035663
234 ANKRD26 NM_014915.2(ANKRD26):c.2071T>C (p.Ser691Pro) SNV Benign 299740 rs73596345 GRCh37: 10:27332445-27332445
GRCh38: 10:27043516-27043516
235 ANKRD26 NM_014915.2(ANKRD26):c.-59G>A SNV Benign 260454 rs3737056 GRCh37: 10:27389314-27389314
GRCh38: 10:27100385-27100385
236 ANKRD26 NM_014915.2(ANKRD26):c.3913G>A (p.Val1305Ile) SNV Benign 260467 rs10829163 GRCh37: 10:27317840-27317840
GRCh38: 10:27028911-27028911
237 ANKRD26 NM_014915.2(ANKRD26):c.*1120A>G SNV Benign 299715 rs35446173 GRCh37: 10:27293399-27293399
GRCh38: 10:27004470-27004470
238 ANKRD26 NM_014915.2(ANKRD26):c.3658G>C (p.Val1220Leu) SNV Benign 260466 rs12572862 GRCh37: 10:27322303-27322303
GRCh38: 10:27033374-27033374
239 ANKRD26 NM_014915.2(ANKRD26):c.948T>C (p.Asp316=) SNV Benign 299754 rs569751156 GRCh37: 10:27366396-27366396
GRCh38: 10:27077467-27077467
240 ANKRD26 NM_014915.2(ANKRD26):c.*1433A>G SNV Benign 299709 rs12570065 GRCh37: 10:27293086-27293086
GRCh38: 10:27004157-27004157
241 ANKRD26 NM_014915.2(ANKRD26):c.4879C>T (p.Pro1627Ser) SNV Benign 299726 rs572143624 GRCh37: 10:27301885-27301885
GRCh38: 10:27012956-27012956
242 ANKRD26 NM_014915.2(ANKRD26):c.531+10A>T SNV Benign 299759 rs114367485 GRCh37: 10:27382268-27382268
GRCh38: 10:27093339-27093339
243 ANKRD26 NM_014915.2(ANKRD26):c.*1175C>T SNV Benign 299712 rs10829158 GRCh37: 10:27293344-27293344
GRCh38: 10:27004415-27004415
244 ANKRD26 NM_014915.2(ANKRD26):c.4542T>A (p.Phe1514Leu) SNV Benign 260470 rs2274741 GRCh37: 10:27303605-27303605
GRCh38: 10:27014676-27014676
245 ANKRD26 NM_014915.2(ANKRD26):c.4188T>C (p.Asp1396=) SNV Benign 299731 rs199589035 GRCh37: 10:27311514-27311514
GRCh38: 10:27022585-27022585
246 ANKRD26 NM_014915.2(ANKRD26):c.162C>T (p.Ala54=) SNV Benign 299763 rs761866364 GRCh37: 10:27389094-27389094
GRCh38: 10:27100165-27100165
247 ANKRD26 NM_014915.2(ANKRD26):c.4145T>A (p.Phe1382Tyr) SNV Benign 260469 rs78251061 GRCh37: 10:27311557-27311557
GRCh38: 10:27022628-27022628
248 ANKRD26 NM_014915.2(ANKRD26):c.1635+9T>C SNV Benign 299745 rs199590440 GRCh37: 10:27342240-27342240
GRCh38: 10:27053311-27053311
249 ANKRD26 NM_014915.2(ANKRD26):c.1564+6T>C SNV Benign 260459 rs149655759 GRCh37: 10:27349268-27349268
GRCh38: 10:27060339-27060339
250 ANKRD26 NM_014915.2(ANKRD26):c.4497A>G (p.Leu1499=) SNV Benign 299729 rs558881577 GRCh37: 10:27306440-27306440
GRCh38: 10:27017511-27017511
251 ANKRD26 NM_014915.2(ANKRD26):c.2974C>T (p.Leu992=) SNV Benign 299737 rs3824692 GRCh37: 10:27324405-27324405
GRCh38: 10:27035476-27035476
252 ANKRD26 NM_014915.2(ANKRD26):c.2376-4G>A SNV Benign 260462 rs75445709 GRCh37: 10:27326987-27326987
GRCh38: 10:27038058-27038058
253 ANKRD26 NM_014915.2(ANKRD26):c.1153A>G (p.Thr385Ala) SNV Benign 299752 rs375318218 GRCh37: 10:27356140-27356140
GRCh38: 10:27067211-27067211
254 ANKRD26 NM_014915.2(ANKRD26):c.874+8G>T SNV Benign 299755 rs377114195 GRCh37: 10:27366554-27366554
GRCh38: 10:27077625-27077625
255 WAS NM_000377.3(WAS):c.1188_1196ACCGCCACC[1] (p.Pro402_Pro404del) Microsatellite Benign 36908 rs193922412 GRCh37: X:48547300-48547308
GRCh38: X:48688911-48688919
256 WAS NM_000377.2(WAS):c.391G>A (p.Glu131Lys) SNV Benign 135413 rs146220228 GRCh37: X:48544153-48544153
GRCh38: X:48685764-48685764
257 WAS NM_000377.2(WAS):c.995T>C (p.Val332Ala) SNV Benign 135410 rs2737799 GRCh37: X:48547112-48547112
GRCh38: X:48688723-48688723
258 WAS NM_000377.2(WAS):c.264C>T (p.Tyr88=) SNV Benign 287856 rs150520117 GRCh37: X:48542803-48542803
GRCh38: X:48684414-48684414
259 WAS NM_000377.2(WAS):c.538C>A (p.His180Asn) SNV Benign 36912 rs145040665 GRCh37: X:48544502-48544502
GRCh38: X:48686113-48686113
260 WAS NM_000377.2(WAS):c.285G>A (p.Leu95=) SNV Benign 196259 rs781799471 GRCh37: X:48543947-48543947
GRCh38: X:48685558-48685558
261 WAS NM_000377.2(WAS):c.1378C>T (p.Pro460Ser) SNV Benign 135411 rs143885622 GRCh37: X:48547748-48547748
GRCh38: X:48689359-48689359
262 WAS NM_000377.2(WAS):c.1299G>A (p.Ala433=) SNV Benign 212587 rs372649110 GRCh37: X:48547416-48547416
GRCh38: X:48689027-48689027
263 WAS NM_000377.3(WAS):c.1181C>T (p.Pro394Leu) SNV Benign 698465 rs373524969 GRCh37: X:48547298-48547298
GRCh38: X:48688909-48688909
264 WAS NM_000377.3(WAS):c.1276G>T (p.Ala426Ser) SNV Benign 695873 rs201085962 GRCh37: X:48547393-48547393
GRCh38: X:48689004-48689004
265 WAS NM_000377.2(WAS):c.1200G>A (p.Pro400=) SNV Benign 390196 rs375356111 GRCh37: X:48547317-48547317
GRCh38: X:48688928-48688928
266 WAS NM_000377.2(WAS):c.413G>A (p.Arg138Gln) SNV Benign 135414 rs139265251 GRCh37: X:48544175-48544175
GRCh38: X:48685786-48685786
267 WAS NM_000377.3(WAS):c.184G>C (p.Glu62Gln) SNV Benign 732154 rs141605347 GRCh37: X:48542723-48542723
GRCh38: X:48684334-48684334
268 WAS NM_000377.3(WAS):c.1252G>T (p.Ala418Ser) SNV Benign 833892 GRCh37: X:48547369-48547369
GRCh38: X:48688980-48688980
269 WAS NM_000377.2(WAS):c.695_697delAGA Microsatellite Benign 566605 rs782409127 GRCh37: X:48545297-48545299
GRCh38: X:48686908-48686910
270 WAS NM_000377.2(WAS):c.273+10_273+11dup Duplication Benign 36909 rs58371799 GRCh37: X:48542816-48542817
GRCh38: X:48684427-48684428
271 ANKRD26 NM_014915.2(ANKRD26):c.4445T>C (p.Ile1482Thr) SNV Benign 432600 rs80097260 GRCh37: 10:27306492-27306492
GRCh38: 10:27017563-27017563
272 WAS NM_000377.3(WAS):c.273+11dup Duplication Benign 255964 rs58371799 GRCh37: X:48542816-48542817
GRCh38: X:48684427-48684428
273 WAS NM_000377.2(WAS):c.873C>T (p.Tyr291=) SNV Benign 255965 rs149123892 GRCh37: X:48546784-48546784
GRCh38: X:48688395-48688395
274 WAS NM_000377.2(WAS):c.90C>T (p.His30=) SNV Benign 458506 rs148800063 GRCh37: X:48542332-48542332
GRCh38: X:48683943-48683943

Expression for Hereditary Thrombocytopenia with Normal Platelets

Search GEO for disease gene expression data for Hereditary Thrombocytopenia with Normal Platelets.

Pathways for Hereditary Thrombocytopenia with Normal Platelets

GO Terms for Hereditary Thrombocytopenia with Normal Platelets

Cellular components related to Hereditary Thrombocytopenia with Normal Platelets according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 8.62 WAS FYB1

Biological processes related to Hereditary Thrombocytopenia with Normal Platelets according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 8.62 WAS FYB1

Sources for Hereditary Thrombocytopenia with Normal Platelets

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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