MDDGB2
MCID: MSC044
MIFTS: 31

Muscular Dystrophy-Dystroglycanopathy , Type B, 2 (MDDGB2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 2 57 72 13 70
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B2 29 6
Mddgb2 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B2 72
Muscular Dystrophy, Congenital, Pomt2-Related 57
Muscular Dystrophy Congenital Pomt2-Related 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in infancy


HPO:

31
muscular dystrophy-dystroglycanopathy , type b, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

OMIM® : 57 MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with impaired intellectual development and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) (Godfrey et al., 2007). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (613156) (Updated 20-May-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 2, is also known as congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b2, and has symptoms including generalized muscle weakness and facial paresis. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include eye, cortex and pons, and related phenotypes are left ventricular hypertrophy and pigmentary retinopathy

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

31 (showing 30, show less)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
2 pigmentary retinopathy 31 occasional (7.5%) HP:0000580
3 left ventricular systolic dysfunction 31 occasional (7.5%) HP:0025169
4 intellectual disability 31 HP:0001249
5 scoliosis 31 HP:0002650
6 facial palsy 31 HP:0010628
7 respiratory insufficiency 31 HP:0002093
8 hyperlordosis 31 HP:0003307
9 macroglossia 31 HP:0000158
10 microcephaly 31 HP:0000252
11 flexion contracture 31 HP:0001371
12 strabismus 31 HP:0000486
13 cryptorchidism 31 HP:0000028
14 myopia 31 HP:0000545
15 elevated serum creatine kinase 31 HP:0003236
16 motor delay 31 HP:0001270
17 cerebral cortical atrophy 31 HP:0002120
18 open mouth 31 HP:0000194
19 micropenis 31 HP:0000054
20 areflexia 31 HP:0001284
21 ventriculomegaly 31 HP:0002119
22 hip dislocation 31 HP:0002827
23 hyporeflexia 31 HP:0001265
24 cerebellar hypoplasia 31 HP:0001321
25 hypoplasia of the corpus callosum 31 HP:0002079
26 muscular dystrophy 31 HP:0003560
27 generalized muscle weakness 31 HP:0003324
28 generalized hypotonia 31 HP:0001290
29 congenital muscular dystrophy 31 HP:0003741
30 proximal muscle weakness 31 HP:0003701

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
lordosis

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
micropenis

Skeletal Pelvis:
hip dislocation

Cardiovascular Heart:
left ventricular hypertrophy (in some patients)
dilated aortic root (in some patients)
left ventricular wall motion abnormalities (in some patients)
left ventricular systolic dysfunction (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Neck:
stiff, hyperextended neck

Respiratory:
respiratory insufficiency

Head And Neck Eyes:
strabismus
myopia
pigmentary retinopathy (reported in 1 patient)

Head And Neck Mouth:
open mouth
tongue hypertrophy

Neurologic Central Nervous System:
areflexia
hyporeflexia
cerebellar hypoplasia
hypoplasia of the corpus callosum
delayed motor development
more
Muscle Soft Tissue:
muscular dystrophy
muscle weakness, diffuse
muscle weakness, proximal
muscle hypertrophy
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )
more
Head And Neck Face:
facial muscle weakness

Skeletal:
contractures

Clinical features from OMIM®:

613156 (Updated 20-May-2021)

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:


generalized muscle weakness; facial paresis

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B2 29 POMT2

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

40
Eye, Cortex, Pons, Tongue

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

(showing 14, show less)
# Title Authors PMID Year
1
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. 57 6
24002165 2014
2
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. 6 57
19138766 2009
3
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6 57
19299310 2009
4
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6 57
17878207 2007
5
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 6 57
17634419 2007
6
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. 6
30060766 2018
7
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. 6
28980384 2017
8
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
9
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. 6
26495167 2015
10
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 6
22323514 2012
11
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 6
18752264 2008
12
Molecular heterogeneity in fetal forms of type II lissencephaly. 6
17559086 2007
13
IL-20 is an arteriogenic cytokine that remodels collateral networks and improves functions of ischemic hind limbs. 6
17878297 2007
14
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 6
15894594 2005

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

6 (showing 218, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMT2 NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu) SNV Pathogenic 3222 rs267606969 GRCh37: 14:77743795-77743795
GRCh38: 14:77277452-77277452
2 POMT2 NM_013382.5(POMT2):c.1941G>A (p.Trp647Ter) SNV Pathogenic 3223 rs267606963 GRCh37: 14:77745163-77745163
GRCh38: 14:77278820-77278820
3 POMT2 NM_013382.5(POMT2):c.737G>A (p.Gly246Asp) SNV Pathogenic 3228 rs267606966 GRCh37: 14:77767512-77767512
GRCh38: 14:77301169-77301169
4 POMT2 NM_013382.5(POMT2):c.248+5G>C SNV Pathogenic 3234 rs587777816 GRCh37: 14:77786772-77786772
GRCh38: 14:77320429-77320429
5 POMT2 NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser) SNV Pathogenic 3231 rs267606970 GRCh37: 14:77762566-77762566
GRCh38: 14:77296223-77296223
6 POMT2 NM_013382.5(POMT2):c.248+1G>C SNV Pathogenic 579369 rs961440747 GRCh37: 14:77786776-77786776
GRCh38: 14:77320433-77320433
7 POMT2 NM_013382.5(POMT2):c.673del (p.Trp225fs) Deletion Pathogenic 649496 rs1594796439 GRCh37: 14:77767576-77767576
GRCh38: 14:77301233-77301233
8 POMT2 NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) SNV Pathogenic 538730 rs147871747 GRCh37: 14:77769186-77769186
GRCh38: 14:77302843-77302843
9 POMT2 NM_013382.5(POMT2):c.1293dup (p.Met432fs) Duplication Pathogenic 538734 rs1555352706 GRCh37: 14:77753125-77753126
GRCh38: 14:77286782-77286783
10 POMT2 NM_013382.7(POMT2):c.791del (p.Leu264fs) Deletion Pathogenic 938509 GRCh37: 14:77767458-77767458
GRCh38: 14:77301115-77301115
11 POMT2 NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) SNV Pathogenic 289683 rs775932206 GRCh37: 14:77765080-77765080
GRCh38: 14:77298737-77298737
12 POMT2 NM_013382.5(POMT2):c.1006+1G>A SNV Pathogenic 3219 rs533916138 GRCh37: 14:77765031-77765031
GRCh38: 14:77298688-77298688
13 POMT2 NM_013382.5(POMT2):c.1123_1124dup (p.Tyr376fs) Duplication Pathogenic 282447 rs886042401 GRCh37: 14:77757715-77757716
GRCh38: 14:77291372-77291373
14 POMT2 NM_013382.5(POMT2):c.924-2A>G SNV Pathogenic 289765 rs886044256 GRCh37: 14:77765116-77765116
GRCh38: 14:77298773-77298773
15 POMT2 NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) SNV Pathogenic 95535 rs368817785 GRCh37: 14:77751891-77751891
GRCh38: 14:77285548-77285548
16 POMT2 NM_013382.5(POMT2):c.2242T>C (p.Trp748Arg) SNV Pathogenic 3224 rs267606964 GRCh37: 14:77743730-77743730
GRCh38: 14:77277387-77277387
17 POMT2 NM_013382.5(POMT2):c.924-2A>C SNV Pathogenic 449378 rs886044256 GRCh37: 14:77765116-77765116
GRCh38: 14:77298773-77298773
18 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Pathogenic 3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
19 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Pathogenic 3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
20 POMT2 NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu) SNV Likely pathogenic 194966 rs794727228 GRCh37: 14:77745146-77745146
GRCh38: 14:77278803-77278803
21 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Likely pathogenic 3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
22 POMT2 NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp) SNV Likely pathogenic 162597 rs727502855 GRCh37: 14:77753158-77753158
GRCh38: 14:77286815-77286815
23 POMT2 NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs) Microsatellite Likely pathogenic 538732 rs1555351894 GRCh37: 14:77746394-77746395
GRCh38: 14:77280051-77280052
24 POMT2 NM_013382.5(POMT2):c.1485-2_1485-1del Deletion Likely pathogenic 579922 rs1185491348 GRCh37: 14:77751385-77751386
GRCh38: 14:77285042-77285043
25 POMT2 NM_013382.5(POMT2):c.242A>G (p.His81Arg) SNV Uncertain significance 580857 rs746662519 GRCh37: 14:77786783-77786783
GRCh38: 14:77320440-77320440
26 POMT2 NM_013382.5(POMT2):c.2148-6T>A SNV Uncertain significance 581413 rs1242617887 GRCh37: 14:77743830-77743830
GRCh38: 14:77277487-77277487
27 POMT2 NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp) SNV Uncertain significance 582117 rs768256055 GRCh37: 14:77753119-77753119
GRCh38: 14:77286776-77286776
28 POMT2 NM_013382.5(POMT2):c.334-3C>A SNV Uncertain significance 587446 rs1566658848 GRCh37: 14:77772787-77772787
GRCh38: 14:77306444-77306444
29 POMT2 NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp) SNV Uncertain significance 582117 rs768256055 GRCh37: 14:77753119-77753119
GRCh38: 14:77286776-77286776
30 POMT2 NM_013382.5(POMT2):c.642C>A (p.Asn214Lys) SNV Uncertain significance 644886 rs1594797659 GRCh37: 14:77769192-77769192
GRCh38: 14:77302849-77302849
31 POMT2 NM_013382.5(POMT2):c.685C>T (p.Leu229Phe) SNV Uncertain significance 645110 rs754512099 GRCh37: 14:77767564-77767564
GRCh38: 14:77301221-77301221
32 POMT2 NM_013382.5(POMT2):c.1857G>C (p.Met619Ile) SNV Uncertain significance 646201 rs1594885046 GRCh37: 14:77746200-77746200
GRCh38: 14:77279857-77279857
33 POMT2 NM_013382.5(POMT2):c.416A>G (p.His139Arg) SNV Uncertain significance 647612 rs1594800188 GRCh37: 14:77772702-77772702
GRCh38: 14:77306359-77306359
34 POMT2 NM_013382.5(POMT2):c.50G>A (p.Arg17Gln) SNV Uncertain significance 648610 rs753326186 GRCh37: 14:77786975-77786975
GRCh38: 14:77320632-77320632
35 POMT2 NM_013382.5(POMT2):c.1282_1284del (p.His428del) Deletion Uncertain significance 650053 rs1594890912 GRCh37: 14:77753135-77753137
GRCh38: 14:77286792-77286794
36 POMT2 NM_013382.5(POMT2):c.1006+4_1006+7del Deletion Uncertain significance 652452 rs1594794303 GRCh37: 14:77765025-77765028
GRCh38: 14:77298682-77298685
37 POMT2 NM_013382.5(POMT2):c.1142A>G (p.Tyr381Cys) SNV Uncertain significance 654933 rs375840897 GRCh37: 14:77757698-77757698
GRCh38: 14:77291355-77291355
38 POMT2 NM_013382.5(POMT2):c.1124C>T (p.Thr375Ile) SNV Uncertain significance 657085 rs542912704 GRCh37: 14:77757716-77757716
GRCh38: 14:77291373-77291373
39 POMT2 NM_013382.5(POMT2):c.14C>G (p.Thr5Arg) SNV Uncertain significance 657322 rs760413289 GRCh37: 14:77787011-77787011
GRCh38: 14:77320668-77320668
40 POMT2 NM_013382.5(POMT2):c.1223A>G (p.His408Arg) SNV Uncertain significance 658014 rs1594787166 GRCh37: 14:77755135-77755135
GRCh38: 14:77288792-77288792
41 POMT2 NM_013382.5(POMT2):c.1975C>T (p.Arg659Trp) SNV Uncertain significance 658319 rs372939905 GRCh37: 14:77745129-77745129
GRCh38: 14:77278786-77278786
42 POMT2 NM_013382.5(POMT2):c.2251T>C (p.Ter751Arg) SNV Uncertain significance 665182 rs1423335226 GRCh37: 14:77743721-77743721
GRCh38: 14:77277378-77277378
43 POMT2 NM_013382.5(POMT2):c.322C>T (p.Pro108Ser) SNV Uncertain significance 471394 rs1555355402 GRCh37: 14:77778303-77778303
GRCh38: 14:77311960-77311960
44 POMT2 NM_013382.5(POMT2):c.1828C>T (p.Leu610Phe) SNV Uncertain significance 471391 rs1555351859 GRCh37: 14:77746229-77746229
GRCh38: 14:77279886-77279886
45 POMT2 NM_013382.5(POMT2):c.2228G>T (p.Arg743Met) SNV Uncertain significance 471392 rs767359121 GRCh37: 14:77743744-77743744
GRCh38: 14:77277401-77277401
46 POMT2 NM_013382.5(POMT2):c.1645A>G (p.Met549Val) SNV Uncertain significance 471390 rs1555352401 GRCh37: 14:77750148-77750148
GRCh38: 14:77283805-77283805
47 POMT2 NM_013382.5(POMT2):c.1467A>T (p.Gly489=) SNV Uncertain significance 471388 rs1555352583 GRCh37: 14:77751841-77751841
GRCh38: 14:77285498-77285498
48 POMT2 NM_013382.5(POMT2):c.1396C>T (p.Arg466Trp) SNV Uncertain significance 314556 rs763119319 GRCh37: 14:77751912-77751912
GRCh38: 14:77285569-77285569
49 POMT2 NM_013382.5(POMT2):c.1042C>G (p.Leu348Val) SNV Uncertain significance 471386 rs1158227625 GRCh37: 14:77762581-77762581
GRCh38: 14:77296238-77296238
50 POMT2 NM_013382.5(POMT2):c.2111C>T (p.Ala704Val) SNV Uncertain significance 566007 rs746221148 GRCh37: 14:77744773-77744773
GRCh38: 14:77278430-77278430
51 POMT2 NM_013382.5(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) Indel Uncertain significance 566152 rs1566642523 GRCh37: 14:77744798-77744799
GRCh38: 14:77278455-77278456
52 POMT2 NM_013382.5(POMT2):c.1424G>A (p.Arg475His) SNV Uncertain significance 568071 rs200976246 GRCh37: 14:77751884-77751884
GRCh38: 14:77285541-77285541
53 POMT2 NM_013382.5(POMT2):c.884C>G (p.Thr295Arg) SNV Uncertain significance 570883 rs794727871 GRCh37: 14:77765837-77765837
GRCh38: 14:77299494-77299494
54 POMT2 NM_013382.5(POMT2):c.1604A>T (p.Gln535Leu) SNV Uncertain significance 572027 rs147882035 GRCh37: 14:77750189-77750189
GRCh38: 14:77283846-77283846
55 POMT2 NM_013382.5(POMT2):c.160G>T (p.Ala54Ser) SNV Uncertain significance 572185 rs1239345534 GRCh37: 14:77786865-77786865
GRCh38: 14:77320522-77320522
56 POMT2 NM_013382.5(POMT2):c.1653+4T>G SNV Uncertain significance 573438 rs555289061 GRCh37: 14:77750136-77750136
GRCh38: 14:77283793-77283793
57 POMT2 NM_013382.5(POMT2):c.2182G>A (p.Val728Ile) SNV Uncertain significance 574170 rs1367401943 GRCh37: 14:77743790-77743790
GRCh38: 14:77277447-77277447
58 POMT2 NM_013382.5(POMT2):c.658C>T (p.Pro220Ser) SNV Uncertain significance 577476 rs771201662 GRCh37: 14:77767591-77767591
GRCh38: 14:77301248-77301248
59 POMT2 NM_013382.5(POMT2):c.47C>G (p.Pro16Arg) SNV Uncertain significance 471395 rs778898705 GRCh37: 14:77786978-77786978
GRCh38: 14:77320635-77320635
60 POMT2 NM_013382.7(POMT2):c.245T>A (p.Ile82Asn) SNV Uncertain significance 944957 GRCh37: 14:77786780-77786780
GRCh38: 14:77320437-77320437
61 POMT2 NM_013382.7(POMT2):c.1382G>A (p.Arg461Lys) SNV Uncertain significance 950744 GRCh37: 14:77751926-77751926
GRCh38: 14:77285583-77285583
62 POMT2 NM_013382.7(POMT2):c.20G>A (p.Gly7Glu) SNV Uncertain significance 955735 GRCh37: 14:77787005-77787005
GRCh38: 14:77320662-77320662
63 POMT2 NM_013382.7(POMT2):c.886G>A (p.Ala296Thr) SNV Uncertain significance 956858 GRCh37: 14:77765835-77765835
GRCh38: 14:77299492-77299492
64 POMT2 NM_013382.7(POMT2):c.745A>G (p.Ile249Val) SNV Uncertain significance 970746 GRCh37: 14:77767504-77767504
GRCh38: 14:77301161-77301161
65 POMT2 NM_013382.5(POMT2):c.1552G>A (p.Val518Met) SNV Uncertain significance 538733 rs200762716 GRCh37: 14:77751317-77751317
GRCh38: 14:77284974-77284974
66 POMT2 NM_013382.5(POMT2):c.50G>C (p.Arg17Pro) SNV Uncertain significance 430082 rs753326186 GRCh37: 14:77786975-77786975
GRCh38: 14:77320632-77320632
67 POMT2 NM_013382.5(POMT2):c.1871G>A (p.Arg624Gln) SNV Uncertain significance 284970 rs369365744 GRCh37: 14:77746186-77746186
GRCh38: 14:77279843-77279843
68 POMT2 NM_013382.5(POMT2):c.1094G>A (p.Gly365Asp) SNV Uncertain significance 573737 rs139830891 GRCh37: 14:77762529-77762529
GRCh38: 14:77296186-77296186
69 POMT2 NM_013382.5(POMT2):c.845G>A (p.Arg282His) SNV Uncertain significance 598055 rs756132642 GRCh37: 14:77765876-77765876
GRCh38: 14:77299533-77299533
70 POMT2 NM_013382.5(POMT2):c.825G>A (p.Val275=) SNV Uncertain significance 288761 rs779272258 GRCh37: 14:77765896-77765896
GRCh38: 14:77299553-77299553
71 POMT2 NM_013382.5(POMT2):c.621G>A (p.Met207Ile) SNV Uncertain significance 285222 rs551885065 GRCh37: 14:77769213-77769213
GRCh38: 14:77302870-77302870
72 POMT2 NM_013382.5(POMT2):c.1248C>G (p.His416Gln) SNV Uncertain significance 635064 rs1566649375 GRCh37: 14:77755110-77755110
GRCh38: 14:77288767-77288767
73 POMT2 NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) SNV Uncertain significance 972468 GRCh37: 14:77745126-77745126
GRCh38: 14:77278783-77278783
74 POMT2 NM_013382.7(POMT2):c.209C>T (p.Ala70Val) SNV Uncertain significance 1038952 GRCh37: 14:77786816-77786816
GRCh38: 14:77320473-77320473
75 POMT2 NM_013382.5(POMT2):c.1006+5G>A SNV Uncertain significance 130015 rs587780422 GRCh37: 14:77765027-77765027
GRCh38: 14:77298684-77298684
76 POMT2 NM_013382.7(POMT2):c.2171C>T (p.Ala724Val) SNV Uncertain significance 1041624 GRCh37: 14:77743801-77743801
GRCh38: 14:77277458-77277458
77 POMT2 NM_013382.7(POMT2):c.1769A>G (p.Tyr590Cys) SNV Uncertain significance 1041643 GRCh37: 14:77746380-77746380
GRCh38: 14:77280037-77280037
78 POMT2 NM_013382.7(POMT2):c.58C>T (p.Arg20Cys) SNV Uncertain significance 1041756 GRCh37: 14:77786967-77786967
GRCh38: 14:77320624-77320624
79 POMT2 NM_013382.7(POMT2):c.1451T>C (p.Val484Ala) SNV Uncertain significance 1043567 GRCh37: 14:77751857-77751857
GRCh38: 14:77285514-77285514
80 POMT2 NM_013382.7(POMT2):c.35C>T (p.Ser12Phe) SNV Uncertain significance 1046083 GRCh37: 14:77786990-77786990
GRCh38: 14:77320647-77320647
81 POMT2 NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg) SNV Uncertain significance 260291 rs147268052 GRCh37: 14:77755108-77755108
GRCh38: 14:77288765-77288765
82 POMT2 NM_013382.5(POMT2):c.29C>T (p.Ala10Val) SNV Uncertain significance 471393 rs183558313 GRCh37: 14:77786996-77786996
GRCh38: 14:77320653-77320653
83 POMT2 NM_013382.5(POMT2):c.128A>G (p.Lys43Arg) SNV Uncertain significance 451573 rs745417690 GRCh37: 14:77786897-77786897
GRCh38: 14:77320554-77320554
84 POMT2 NM_013382.5(POMT2):c.1397G>A (p.Arg466Gln) SNV Uncertain significance 471387 rs138266415 GRCh37: 14:77751911-77751911
GRCh38: 14:77285568-77285568
85 POMT2 NM_013382.5(POMT2):c.2242T>C (p.Trp748Arg) SNV Uncertain significance 3224 rs267606964 GRCh37: 14:77743730-77743730
GRCh38: 14:77277387-77277387
86 POMT2 NM_013382.5(POMT2):c.2087C>T (p.Pro696Leu) SNV Uncertain significance 569111 rs1449000965 GRCh37: 14:77744797-77744797
GRCh38: 14:77278454-77278454
87 POMT2 NM_013382.5(POMT2):c.1654-8T>G SNV Uncertain significance 283033 rs780532724 GRCh37: 14:77746814-77746814
GRCh38: 14:77280471-77280471
88 POMT2 NM_013382.5(POMT2):c.1274G>C (p.Ser425Thr) SNV Uncertain significance 663918 rs774466835 GRCh37: 14:77753145-77753145
GRCh38: 14:77286802-77286802
89 POMT2 NM_013382.7(POMT2):c.756A>G (p.Gln252=) SNV Uncertain significance 837356 GRCh37: 14:77767493-77767493
GRCh38: 14:77301150-77301150
90 POMT2 NM_013382.7(POMT2):c.763C>G (p.Leu255Val) SNV Uncertain significance 847276 GRCh37: 14:77767486-77767486
GRCh38: 14:77301143-77301143
91 POMT2 NM_013382.7(POMT2):c.1238G>A (p.Arg413Gln) SNV Uncertain significance 856880 GRCh37: 14:77755120-77755120
GRCh38: 14:77288777-77288777
92 POMT2 NM_013382.7(POMT2):c.827G>A (p.Gly276Glu) SNV Uncertain significance 933435 GRCh37: 14:77765894-77765894
GRCh38: 14:77299551-77299551
93 POMT2 NM_013382.5(POMT2):c.613G>A (p.Ala205Thr) SNV Uncertain significance 287942 rs886043765 GRCh37: 14:77769221-77769221
GRCh38: 14:77302878-77302878
94 POMT2 NM_013382.7(POMT2):c.1061A>C (p.Tyr354Ser) SNV Uncertain significance 948602 GRCh37: 14:77762562-77762562
GRCh38: 14:77296219-77296219
95 POMT2 NM_013382.7(POMT2):c.1332+4A>G SNV Uncertain significance 952724 GRCh37: 14:77753083-77753083
GRCh38: 14:77286740-77286740
96 POMT2 NM_013382.5(POMT2):c.806G>A (p.Ser269Asn) SNV Uncertain significance 448119 rs375217032 GRCh37: 14:77767443-77767443
GRCh38: 14:77301100-77301100
97 POMT2 NM_013382.7(POMT2):c.925G>A (p.Gly309Ser) SNV Uncertain significance 967016 GRCh37: 14:77765113-77765113
GRCh38: 14:77298770-77298770
98 POMT2 NM_013382.5(POMT2):c.133C>T (p.Pro45Ser) SNV Uncertain significance 567156 rs780976004 GRCh37: 14:77786892-77786892
GRCh38: 14:77320549-77320549
99 POMT2 NM_013382.5(POMT2):c.593T>A (p.Ile198Asn) SNV Uncertain significance 3227 rs267606972 GRCh37: 14:77769241-77769241
GRCh38: 14:77302898-77302898
100 POMT2 NM_013382.7(POMT2):c.2164C>T (p.Pro722Ser) SNV Uncertain significance 998802 GRCh37: 14:77743808-77743808
GRCh38: 14:77277465-77277465
101 POMT2 NM_013382.7(POMT2):c.1913G>A (p.Arg638Gln) SNV Uncertain significance 1005746 GRCh37: 14:77745191-77745191
GRCh38: 14:77278848-77278848
102 POMT2 NM_013382.7(POMT2):c.2011C>T (p.Leu671Phe) SNV Uncertain significance 1008462 GRCh37: 14:77745093-77745093
GRCh38: 14:77278750-77278750
103 POMT2 NM_013382.5(POMT2):c.856C>T (p.Leu286Phe) SNV Uncertain significance 501800 rs375363915 GRCh37: 14:77765865-77765865
GRCh38: 14:77299522-77299522
104 POMT2 NM_013382.7(POMT2):c.389A>G (p.Gln130Arg) SNV Uncertain significance 1011226 GRCh37: 14:77772729-77772729
GRCh38: 14:77306386-77306386
105 POMT2 NM_013382.5(POMT2):c.656+3C>G SNV Uncertain significance 471396 rs561052172 GRCh37: 14:77769175-77769175
GRCh38: 14:77302832-77302832
106 POMT2 NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) SNV Uncertain significance 194965 rs142299878 GRCh37: 14:77745201-77745201
GRCh38: 14:77278858-77278858
107 POMT2 NM_013382.5(POMT2):c.1012G>A (p.Ala338Thr) SNV Uncertain significance 538731 rs771636400 GRCh37: 14:77762611-77762611
GRCh38: 14:77296268-77296268
108 POMT2 NM_013382.5(POMT2):c.1711C>T (p.Pro571Ser) SNV Uncertain significance 284056 rs771812476 GRCh37: 14:77746749-77746749
GRCh38: 14:77280406-77280406
109 POMT2 NM_013382.5(POMT2):c.295C>T (p.Arg99Cys) SNV Uncertain significance 285067 rs199719668 GRCh37: 14:77778330-77778330
GRCh38: 14:77311987-77311987
110 POMT2 NM_013382.5(POMT2):c.1540T>A (p.Ser514Thr) SNV Uncertain significance 572824 rs1566647081 GRCh37: 14:77751329-77751329
GRCh38: 14:77284986-77284986
111 POMT2 NM_013382.5(POMT2):c.1790T>C (p.Val597Ala) SNV Uncertain significance 580350 rs1171196217 GRCh37: 14:77746267-77746267
GRCh38: 14:77279924-77279924
112 POMT2 NM_013382.5(POMT2):c.586G>A (p.Asp196Asn) SNV Uncertain significance 581205 rs1200584567 GRCh37: 14:77769248-77769248
GRCh38: 14:77302905-77302905
113 POMT2 NM_013382.5(POMT2):c.134C>G (p.Pro45Arg) SNV Uncertain significance 451230 rs753037500 GRCh37: 14:77786891-77786891
GRCh38: 14:77320548-77320548
114 POMT2 NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) SNV Uncertain significance 194965 rs142299878 GRCh37: 14:77745201-77745201
GRCh38: 14:77278858-77278858
115 POMT2 NM_013382.5(POMT2):c.346C>T (p.Leu116Phe) SNV Uncertain significance 663397 rs1594800231 GRCh37: 14:77772772-77772772
GRCh38: 14:77306429-77306429
116 POMT2 NM_013382.7(POMT2):c.796G>A (p.Gly266Arg) SNV Uncertain significance 835081 GRCh37: 14:77767453-77767453
GRCh38: 14:77301110-77301110
117 POMT2 NM_013382.5(POMT2):c.1321G>A (p.Gly441Ser) SNV Uncertain significance 502501 rs199743727 GRCh37: 14:77753098-77753098
GRCh38: 14:77286755-77286755
118 POMT2 NM_013382.7(POMT2):c.61T>C (p.Cys21Arg) SNV Uncertain significance 846006 GRCh37: 14:77786964-77786964
GRCh38: 14:77320621-77320621
119 POMT2 NM_013382.7(POMT2):c.758T>G (p.Val253Gly) SNV Uncertain significance 847275 GRCh37: 14:77767491-77767491
GRCh38: 14:77301148-77301148
120 POMT2 NM_013382.7(POMT2):c.1000C>T (p.Pro334Ser) SNV Uncertain significance 849434 GRCh37: 14:77765038-77765038
GRCh38: 14:77298695-77298695
121 POMT2 NM_013382.7(POMT2):c.1121C>G (p.Thr374Ser) SNV Uncertain significance 851511 GRCh37: 14:77757719-77757719
GRCh38: 14:77291376-77291376
122 POMT2 NM_013382.5(POMT2):c.2086C>A (p.Pro696Thr) SNV Uncertain significance 283989 rs76700503 GRCh37: 14:77744798-77744798
GRCh38: 14:77278455-77278455
123 POMT2 NM_013382.7(POMT2):c.521T>C (p.Leu174Pro) SNV Uncertain significance 940462 GRCh37: 14:77771061-77771061
GRCh38: 14:77304718-77304718
124 POMT2 NM_013382.7(POMT2):c.1570C>T (p.Pro524Ser) SNV Uncertain significance 944235 GRCh37: 14:77751299-77751299
GRCh38: 14:77284956-77284956
125 POMT2 NM_013382.7(POMT2):c.1081C>T (p.Leu361Phe) SNV Uncertain significance 945216 GRCh37: 14:77762542-77762542
GRCh38: 14:77296199-77296199
126 POMT2 NM_013382.7(POMT2):c.13A>T (p.Thr5Ser) SNV Uncertain significance 964259 GRCh37: 14:77787012-77787012
GRCh38: 14:77320669-77320669
127 POMT2 NM_013382.7(POMT2):c.548A>G (p.Asp183Gly) SNV Uncertain significance 966731 GRCh37: 14:77769286-77769286
GRCh38: 14:77302943-77302943
128 POMT2 NM_013382.5(POMT2):c.1229A>T (p.Asp410Val) SNV Uncertain significance 285824 rs886043224 GRCh37: 14:77755129-77755129
GRCh38: 14:77288786-77288786
129 POMT2 NM_013382.5(POMT2):c.769A>G (p.Thr257Ala) SNV Uncertain significance 424437 rs371988132 GRCh37: 14:77767480-77767480
GRCh38: 14:77301137-77301137
130 POMT2 NM_013382.7(POMT2):c.1568A>G (p.Asn523Ser) SNV Uncertain significance 1015560 GRCh37: 14:77751301-77751301
GRCh38: 14:77284958-77284958
131 POMT2 NM_013382.7(POMT2):c.2147+5G>C SNV Uncertain significance 1016482 GRCh37: 14:77744732-77744732
GRCh38: 14:77278389-77278389
132 POMT2 NM_013382.7(POMT2):c.997A>G (p.Ile333Val) SNV Uncertain significance 1017589 GRCh37: 14:77765041-77765041
GRCh38: 14:77298698-77298698
133 POMT2 NM_013382.7(POMT2):c.1127A>G (p.Tyr376Cys) SNV Uncertain significance 1018882 GRCh37: 14:77757713-77757713
GRCh38: 14:77291370-77291370
134 POMT2 NM_013382.5(POMT2):c.1733G>A (p.Arg578His) SNV Uncertain significance 162601 rs571330846 GRCh37: 14:77746416-77746416
GRCh38: 14:77280073-77280073
135 POMT2 NM_013382.5(POMT2):c.1464G>A (p.Ser488=) SNV Uncertain significance 314555 rs375698520 GRCh37: 14:77751844-77751844
GRCh38: 14:77285501-77285501
136 POMT2 NM_013382.5(POMT2):c.1920C>T (p.Gly640=) SNV Uncertain significance 281987 rs150755807 GRCh37: 14:77745184-77745184
GRCh38: 14:77278841-77278841
137 POMT2 NM_013382.5(POMT2):c.229G>A (p.Asp77Asn) SNV Uncertain significance 497671 rs200992827 GRCh37: 14:77786796-77786796
GRCh38: 14:77320453-77320453
138 POMT2 NM_013382.5(POMT2):c.1691C>T (p.Thr564Met) SNV Uncertain significance 448116 rs142445941 GRCh37: 14:77746769-77746769
GRCh38: 14:77280426-77280426
139 POMT2 NM_013382.5(POMT2):c.344G>C (p.Gly115Ala) SNV Uncertain significance 662827 rs1594800236 GRCh37: 14:77772774-77772774
GRCh38: 14:77306431-77306431
140 POMT2 NM_013382.7(POMT2):c.1433A>G (p.His478Arg) SNV Uncertain significance 850492 GRCh37: 14:77751875-77751875
GRCh38: 14:77285532-77285532
141 POMT2 NM_013382.7(POMT2):c.767A>T (p.Asn256Ile) SNV Uncertain significance 851201 GRCh37: 14:77767482-77767482
GRCh38: 14:77301139-77301139
142 POMT2 NM_013382.5(POMT2):c.1627C>A (p.Leu543Met) SNV Uncertain significance 546524 rs367552151 GRCh37: 14:77750166-77750166
GRCh38: 14:77283823-77283823
143 POMT2 NM_013382.7(POMT2):c.1006C>A (p.His336Asn) SNV Uncertain significance 940674 GRCh37: 14:77765032-77765032
GRCh38: 14:77298689-77298689
144 POMT2 NM_013382.5(POMT2):c.1046G>A (p.Arg349Gln) SNV Uncertain significance 289594 rs756055923 GRCh37: 14:77762577-77762577
GRCh38: 14:77296234-77296234
145 POMT2 NM_013382.7(POMT2):c.836T>A (p.Leu279Gln) SNV Uncertain significance 943691 GRCh37: 14:77765885-77765885
GRCh38: 14:77299542-77299542
146 POMT2 NM_013382.7(POMT2):c.1484+1_1484+3dup Duplication Uncertain significance 946060 GRCh37: 14:77751820-77751821
GRCh38: 14:77285477-77285478
147 POMT2 NM_013382.7(POMT2):c.1040A>C (p.Asn347Thr) SNV Uncertain significance 948468 GRCh37: 14:77762583-77762583
GRCh38: 14:77296240-77296240
148 POMT2 NM_013382.7(POMT2):c.329G>A (p.Gly110Glu) SNV Uncertain significance 949499 GRCh37: 14:77778296-77778296
GRCh38: 14:77311953-77311953
149 POMT2 NM_013382.5(POMT2):c.1386A>C (p.Lys462Asn) SNV Uncertain significance 595183 rs567557121 GRCh37: 14:77751922-77751922
GRCh38: 14:77285579-77285579
150 POMT2 NM_013382.5(POMT2):c.640A>C (p.Asn214His) SNV Uncertain significance 582532 rs376485603 GRCh37: 14:77769194-77769194
GRCh38: 14:77302851-77302851
151 POMT2 NM_013382.5(POMT2):c.1186C>T (p.Pro396Ser) SNV Uncertain significance 314557 rs764723711 GRCh37: 14:77755172-77755172
GRCh38: 14:77288829-77288829
152 POMT2 NM_013382.7(POMT2):c.661T>A (p.Phe221Ile) SNV Uncertain significance 807153 rs746803006 GRCh37: 14:77767588-77767588
GRCh38: 14:77301245-77301245
153 POMT2 NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) SNV Uncertain significance 95541 rs151103906 GRCh37: 14:77786793-77786793
GRCh38: 14:77320450-77320450
154 POMT2 NM_013382.5(POMT2):c.293A>G (p.Asn98Ser) SNV Uncertain significance 95542 rs368034790 GRCh37: 14:77778332-77778332
GRCh38: 14:77311989-77311989
155 POMT2 NM_013382.5(POMT2):c.551C>T (p.Thr184Met) SNV Uncertain significance 3229 rs267606971 GRCh37: 14:77769283-77769283
GRCh38: 14:77302940-77302940
156 POMT2 NM_013382.5(POMT2):c.1238G>C (p.Arg413Pro) SNV Uncertain significance 3225 rs190285831 GRCh37: 14:77755120-77755120
GRCh38: 14:77288777-77288777
157 POMT2 NM_013382.5(POMT2):c.1106G>A (p.Arg369His) SNV Uncertain significance 95532 rs398124260 GRCh37: 14:77762517-77762517
GRCh38: 14:77296174-77296174
158 POMT2 NM_013382.5(POMT2):c.320C>T (p.Pro107Leu) SNV Uncertain significance 95543 rs398124264 GRCh37: 14:77778305-77778305
GRCh38: 14:77311962-77311962
159 POMT2 NM_013382.5(POMT2):c.1141T>C (p.Tyr381His) SNV Uncertain significance 500176 rs369489033 GRCh37: 14:77757699-77757699
GRCh38: 14:77291356-77291356
160 POMT2 NM_013382.5(POMT2):c.1030A>C (p.Thr344Pro) SNV Uncertain significance 538736 rs1285454398 GRCh37: 14:77762593-77762593
GRCh38: 14:77296250-77296250
161 POMT2 NM_013382.5(POMT2):c.1651C>T (p.Arg551Trp) SNV Uncertain significance 314554 rs751153662 GRCh37: 14:77750142-77750142
GRCh38: 14:77283799-77283799
162 POMT2 NM_013382.5(POMT2):c.148C>G (p.Arg50Gly) SNV Uncertain significance 211948 rs550420394 GRCh37: 14:77786877-77786877
GRCh38: 14:77320534-77320534
163 POMT2 NM_013382.5(POMT2):c.1732C>T (p.Arg578Cys) SNV Uncertain significance 283109 rs148466370 GRCh37: 14:77746417-77746417
GRCh38: 14:77280074-77280074
164 POMT2 NM_013382.5(POMT2):c.599T>C (p.Met200Thr) SNV Uncertain significance 660340 rs921045202 GRCh37: 14:77769235-77769235
GRCh38: 14:77302892-77302892
165 POMT2 NM_013382.7(POMT2):c.134C>T (p.Pro45Leu) SNV Uncertain significance 841445 GRCh37: 14:77786891-77786891
GRCh38: 14:77320548-77320548
166 POMT2 NM_013382.7(POMT2):c.424A>G (p.Met142Val) SNV Uncertain significance 851413 GRCh37: 14:77772694-77772694
GRCh38: 14:77306351-77306351
167 POMT2 NM_013382.7(POMT2):c.1654-7C>A SNV Uncertain significance 864370 GRCh37: 14:77746813-77746813
GRCh38: 14:77280470-77280470
168 POMT2 NM_013382.7(POMT2):c.1135A>G (p.Lys379Glu) SNV Uncertain significance 956476 GRCh37: 14:77757705-77757705
GRCh38: 14:77291362-77291362
169 POMT2 NM_013382.7(POMT2):c.1681A>G (p.Asn561Asp) SNV Uncertain significance 958598 GRCh37: 14:77746779-77746779
GRCh38: 14:77280436-77280436
170 POMT2 NM_013382.7(POMT2):c.1667T>C (p.Leu556Pro) SNV Uncertain significance 1051857 GRCh37: 14:77746793-77746793
GRCh38: 14:77280450-77280450
171 POMT2 NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln) SNV Uncertain significance 1052816 GRCh37: 14:77751944-77751944
GRCh38: 14:77285601-77285601
172 POMT2 NM_013382.7(POMT2):c.1889C>T (p.Ala630Val) SNV Uncertain significance 807151 rs752214239 GRCh37: 14:77746168-77746168
GRCh38: 14:77279825-77279825
173 POMT2 NM_013382.7(POMT2):c.1210G>A (p.Glu404Lys) SNV Uncertain significance 1054220 GRCh37: 14:77755148-77755148
GRCh38: 14:77288805-77288805
174 POMT2 NM_013382.7(POMT2):c.242A>C (p.His81Pro) SNV Uncertain significance 1054398 GRCh37: 14:77786783-77786783
GRCh38: 14:77320440-77320440
175 POMT2 NM_013382.5(POMT2):c.671C>G (p.Pro224Arg) SNV Uncertain significance 593713 rs771995900 GRCh37: 14:77767578-77767578
GRCh38: 14:77301235-77301235
176 POMT2 NM_013382.5(POMT2):c.406T>C (p.Tyr136His) SNV Uncertain significance 1058360 GRCh37: 14:77772712-77772712
GRCh38: 14:77306369-77306369
177 POMT2 NM_013382.5(POMT2):c.1485-3C>T SNV Uncertain significance 500535 rs754892193 GRCh37: 14:77751387-77751387
GRCh38: 14:77285044-77285044
178 POMT2 NM_013382.5(POMT2):c.1033G>C (p.Val345Leu) SNV Uncertain significance 285224 rs779053591 GRCh37: 14:77762590-77762590
GRCh38: 14:77296247-77296247
179 POMT2 NM_013382.7(POMT2):c.1725+4G>A SNV Uncertain significance 1062353 GRCh37: 14:77746731-77746731
GRCh38: 14:77280388-77280388
180 POMT2 NM_013382.7(POMT2):c.1961T>G (p.Phe654Cys) SNV Uncertain significance 1064334 GRCh37: 14:77745143-77745143
GRCh38: 14:77278800-77278800
181 POMT2 NM_013382.5(POMT2):c.1404A>G (p.Lys468=) SNV Likely benign 194247 rs150491326 GRCh37: 14:77751904-77751904
GRCh38: 14:77285561-77285561
182 POMT2 NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) SNV Likely benign 95541 rs151103906 GRCh37: 14:77786793-77786793
GRCh38: 14:77320450-77320450
183 POMT2 NM_013382.5(POMT2):c.1701C>G (p.Pro567=) SNV Likely benign 194648 rs151051452 GRCh37: 14:77746759-77746759
GRCh38: 14:77280416-77280416
184 POMT2 NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) SNV Likely benign 79628 rs141339355 GRCh37: 14:77762578-77762578
GRCh38: 14:77296235-77296235
185 POMT2 NM_013382.5(POMT2):c.1206A>C (p.Pro402=) SNV Likely benign 386968 rs142479943 GRCh37: 14:77755152-77755152
GRCh38: 14:77288809-77288809
186 POMT2 NM_013382.5(POMT2):c.648C>T (p.Cys216=) SNV Likely benign 314560 rs147871747 GRCh37: 14:77769186-77769186
GRCh38: 14:77302843-77302843
187 POMT2 NM_013382.5(POMT2):c.846T>A (p.Arg282=) SNV Likely benign 508467 rs750579071 GRCh37: 14:77765875-77765875
GRCh38: 14:77299532-77299532
188 POMT2 NM_013382.5(POMT2):c.651C>T (p.Ala217=) SNV Likely benign 282404 rs147845081 GRCh37: 14:77769183-77769183
GRCh38: 14:77302840-77302840
189 POMT2 NM_013382.5(POMT2):c.649G>A (p.Ala217Thr) SNV Likely benign 282839 rs144748043 GRCh37: 14:77769185-77769185
GRCh38: 14:77302842-77302842
190 POMT2 NM_013382.5(POMT2):c.1485-4A>C SNV Likely benign 194400 rs794727127 GRCh37: 14:77751388-77751388
GRCh38: 14:77285045-77285045
191 POMT2 NM_013382.5(POMT2):c.84C>T (p.Ala28=) SNV Likely benign 290205 rs771031903 GRCh37: 14:77786941-77786941
GRCh38: 14:77320598-77320598
192 POMT2 NM_013382.5(POMT2):c.1332+6_1332+9del Microsatellite Likely benign 592360 rs781093215 GRCh37: 14:77753078-77753081
GRCh38: 14:77286735-77286738
193 POMT2 NM_013382.5(POMT2):c.1959G>A (p.Pro653=) SNV Likely benign 538735 rs775222771 GRCh37: 14:77745145-77745145
GRCh38: 14:77278802-77278802
194 POMT2 NM_013382.5(POMT2):c.567G>A (p.Leu189=) SNV Likely benign 538737 rs780313126 GRCh37: 14:77769267-77769267
GRCh38: 14:77302924-77302924
195 POMT2 NM_013382.5(POMT2):c.36C>A (p.Ser12=) SNV Likely benign 704269 rs771074829 GRCh37: 14:77786989-77786989
GRCh38: 14:77320646-77320646
196 POMT2 NM_013382.5(POMT2):c.936C>T (p.Asp312=) SNV Likely benign 705009 rs186690580 GRCh37: 14:77765102-77765102
GRCh38: 14:77298759-77298759
197 POMT2 NM_013382.5(POMT2):c.871C>G (p.Leu291Val) SNV Likely benign 436382 rs764015186 GRCh37: 14:77765850-77765850
GRCh38: 14:77299507-77299507
198 POMT2 NM_013382.5(POMT2):c.1599G>A (p.Val533=) SNV Likely benign 706722 rs768426838 GRCh37: 14:77750194-77750194
GRCh38: 14:77283851-77283851
199 POMT2 NM_013382.5(POMT2):c.339G>A (p.Leu113=) SNV Likely benign 707404 rs907279495 GRCh37: 14:77772779-77772779
GRCh38: 14:77306436-77306436
200 POMT2 NM_013382.5(POMT2):c.248+9T>C SNV Likely benign 741736 rs754261430 GRCh37: 14:77786768-77786768
GRCh38: 14:77320425-77320425
201 POMT2 NM_013382.5(POMT2):c.816+8C>T SNV Likely benign 767333 rs187166139 GRCh37: 14:77767425-77767425
GRCh38: 14:77301082-77301082
202 POMT2 NM_013382.5(POMT2):c.1512C>T (p.Cys504=) SNV Likely benign 471389 rs775728269 GRCh37: 14:77751357-77751357
GRCh38: 14:77285014-77285014
203 POMT2 NM_013382.5(POMT2):c.1881G>A (p.Ala627=) SNV Benign 194863 rs146588608 GRCh37: 14:77746176-77746176
GRCh38: 14:77279833-77279833
204 POMT2 NM_013382.5(POMT2):c.2223A>G (p.Gly741=) SNV Benign 283477 rs554801559 GRCh37: 14:77743749-77743749
GRCh38: 14:77277406-77277406
205 POMT2 NM_013382.5(POMT2):c.1935C>T (p.Leu645=) SNV Benign 284450 rs141193672 GRCh37: 14:77745169-77745169
GRCh38: 14:77278826-77278826
206 POMT2 NM_013382.5(POMT2):c.1262G>A (p.Arg421Gln) SNV Benign 194086 rs151078549 GRCh37: 14:77753157-77753157
GRCh38: 14:77286814-77286814
207 POMT2 NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) SNV Benign 211949 rs117173425 GRCh37: 14:77751332-77751332
GRCh38: 14:77284989-77284989
208 POMT2 NM_013382.5(POMT2):c.924-10C>T SNV Benign 95545 rs142122657 GRCh37: 14:77765124-77765124
GRCh38: 14:77298781-77298781
209 POMT2 NM_013382.5(POMT2):c.1593G>A (p.Leu531=) SNV Benign 289118 rs147934334 GRCh37: 14:77750200-77750200
GRCh38: 14:77283857-77283857
210 POMT2 NM_013382.5(POMT2):c.66C>T (p.Gly22=) SNV Benign 285150 rs200670377 GRCh37: 14:77786959-77786959
GRCh38: 14:77320616-77320616
211 POMT2 NM_013382.5(POMT2):c.652G>A (p.Asp218Asn) SNV Benign 197795 rs140785104 GRCh37: 14:77769182-77769182
GRCh38: 14:77302839-77302839
212 POMT2 NM_013382.5(POMT2):c.1383A>G (p.Arg461=) SNV Benign 138786 rs2270419 GRCh37: 14:77751925-77751925
GRCh38: 14:77285582-77285582
213 POMT2 NM_013382.5(POMT2):c.1683T>C (p.Asn561=) SNV Benign 166904 rs146307965 GRCh37: 14:77746777-77746777
GRCh38: 14:77280434-77280434
214 POMT2 NM_013382.5(POMT2):c.1911G>T (p.Leu637=) SNV Benign 130014 rs3209079 GRCh37: 14:77745193-77745193
GRCh38: 14:77278850-77278850
215 POMT2 NM_013382.5(POMT2):c.2175C>T (p.Tyr725=) SNV Benign 138788 rs116434191 GRCh37: 14:77743797-77743797
GRCh38: 14:77277454-77277454
216 POMT2 NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln) SNV Benign 282243 rs200163818 GRCh37: 14:77744827-77744827
GRCh38: 14:77278484-77278484
217 POMT2 NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) SNV Benign 130016 rs8177536 GRCh37: 14:77786864-77786864
GRCh38: 14:77320521-77320521
218 POMT2 NM_013382.5(POMT2):c.936C>G (p.Asp312Glu) SNV not provided 684556 rs186690580 GRCh37: 14:77765102-77765102
GRCh38: 14:77298759-77298759

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

72 (showing 5, show less)
# Symbol AA change Variation ID SNP ID
1 POMT2 p.Gly246Asp VAR_065039 rs267606966
2 POMT2 p.Tyr666Cys VAR_065045 rs200198778
3 POMT2 p.Phe717Ser VAR_065046
4 POMT2 p.Gly726Glu VAR_065047 rs267606969
5 POMT2 p.Trp748Arg VAR_065048 rs267606964

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 2.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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