U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 151

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:108366632
GRCh38:
Chr9:105604351
FKTNH37R, H146R, H169RAutosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Cardiovascular phenotype
Uncertain significance
(Mar 30, 2021)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr9:108397458
GRCh38:
Chr9:105635177
FKTNCardiovascular phenotype, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M,
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Walker-Warburg congenital muscular dystrophy
Likely benign
(Aug 20, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr9:108380390
GRCh38:
Chr9:105618109
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M,
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy
Likely benign
(Nov 23, 2021)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr9:108363448
GRCh38:
Chr9:105601167
FKTNM40T, M63TDilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4,
Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided,
Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
Uncertain significance
(May 26, 2023)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr9:108397442
GRCh38:
Chr9:105635161
FKTNK296R, K405R, K428RCardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X,
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Walker-Warburg congenital muscular dystrophy
Uncertain significance
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr9:108363499
GRCh38:
Chr9:105601218
FKTNL57P, L80Pnot provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X,
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Walker-Warburg congenital muscular dystrophy
Uncertain significance
(Sep 6, 2021)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr9:108366656
GRCh38:
Chr9:105604375
FKTNH177R, H154R, H45RMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4,
Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy
Uncertain significance
(Sep 24, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr9:108377566
GRCh38:
Chr9:105615285
FKTNL263R, L131R, L240RMuscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy
Uncertain significance
(Mar 8, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr9:108397470
GRCh38:
Chr9:105635189
FKTNWalker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M,
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Likely benign
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr9:108360365
GRCh38:
Chr9:105598084
FKTNDilated cardiomyopathy 1XPathogenicno assertion criteria provided
11.
GRCh37:
Chr9:108398007
GRCh38:
Chr9:105635726
FKTNDilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr9:108397711
GRCh38:
Chr9:105635430
FKTNDilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr9:108370157
GRCh38:
Chr9:105607876
FKTNWalker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Conflicting interpretations of pathogenicity
(Aug 21, 2022)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr9:108401323
GRCh38:
Chr9:105639042
FKTNnot provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
Conflicting interpretations of pathogenicity
(May 12, 2021)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr9:108400137
GRCh38:
Chr9:105637856
FKTNDilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Uncertain significance
(Sep 10, 2021)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr9:108402453
GRCh38:
Chr9:105640172
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr9:108401061
GRCh38:
Chr9:105638780
FKTNMuscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Dilated cardiomyopathy 1X
Uncertain significance
(Aug 20, 2021)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr9:108401005
GRCh38:
Chr9:105638724
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr9:108400897
GRCh38:
Chr9:105638616
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr9:108400009
GRCh38:
Chr9:105637728
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr9:108399972
GRCh38:
Chr9:105637691
FKTNnot provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
Conflicting interpretations of pathogenicity
(Sep 16, 2021)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr9:108398774
GRCh38:
Chr9:105636493
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr9:108398720
GRCh38:
Chr9:105636439
FKTNMuscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Uncertain significance
(Oct 26, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr9:108397645
GRCh38:
Chr9:105635364
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr9:108397624
GRCh38:
Chr9:105635343
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr9:108397616
GRCh38:
Chr9:105635335
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr9:108370116
GRCh38:
Chr9:105607835
FKTNV199I, V222I, V90IMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy,
Dilated cardiomyopathy 1X
Uncertain significance
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr9:108336002
GRCh38:
Chr9:105573721
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr9:108402371
GRCh38:
Chr9:105640090
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr9:108402250
GRCh38:
Chr9:105639969
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr9:108402191
GRCh38:
Chr9:105639910
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr9:108400857
GRCh38:
Chr9:105638576
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr9:108399843
GRCh38:
Chr9:105637562
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided, Dilated cardiomyopathy 1X
Conflicting interpretations of pathogenicity
(May 12, 2021)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr9:108399799
GRCh38:
Chr9:105637518
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr9:108398555
GRCh38:
Chr9:105636274
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr9:108402046
GRCh38:
Chr9:105639765
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr9:108402036
GRCh38:
Chr9:105639755
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr9:108401530
GRCh38:
Chr9:105639249
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr9:108400447
GRCh38:
Chr9:105638166
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr9:108400219
GRCh38:
Chr9:105637938
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr9:108400185
GRCh38:
Chr9:105637904
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Feb 2, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr9:108399758
GRCh38:
Chr9:105637477
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr9:108399388
GRCh38:
Chr9:105637107
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XConflicting interpretations of pathogenicity
(Apr 27, 2017)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr9:108399183
GRCh38:
Chr9:105636902
FKTNnot provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
Conflicting interpretations of pathogenicity
(Aug 26, 2021)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr9:108398351
GRCh38:
Chr9:105636070
FKTNnot provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
Conflicting interpretations of pathogenicity
(May 12, 2021)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr9:108398322
GRCh38:
Chr9:105636041
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr9:108398305
GRCh38:
Chr9:105636024
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr9:108398257
GRCh38:
Chr9:105635976
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr9:108377695
GRCh38:
Chr9:105615414
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr9:108337275
GRCh38:
Chr9:105574994
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr9:108370163
GRCh38:
Chr9:105607882
FKTNH214Q, H237Q, H105QMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X,
Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Walker-Warburg congenital muscular dystrophy
Uncertain significance
(Aug 20, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr9:108382272
GRCh38:
Chr9:105619991
FKTNF345L, F236L, F368LMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X,
Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Walker-Warburg congenital muscular dystrophy,
Cardiovascular phenotype
Uncertain significance
(May 24, 2023)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr9:108397516
GRCh38:
Chr9:105635235
FKTNE430K, E321K, E453KWalker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2M,
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Uncertain significance
(Apr 6, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr9:108370218
GRCh38:
Chr9:105607937
FKTNR233*, R124*, R256*Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X,
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Walker-Warburg congenital muscular dystrophy
Pathogenic/Likely pathogenic
(May 30, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr9:108363467
GRCh38:
Chr9:105601186
FKTNWalker-Warburg congenital muscular dystrophy, not specified, not provided,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
Conflicting interpretations of pathogenicity
(Sep 26, 2022)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr9:108397420-108397445
GRCh38:
Chr9:105635139-105635164
FKTNA289fs, A398fs, A421fsWalker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Dilated cardiomyopathy 1X,
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Autosomal recessive limb-girdle muscular dystrophy type 2M
Conflicting interpretations of pathogenicity
(Oct 4, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr9:108358913
GRCh38:
Chr9:105596632
FKTNR47QDilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, not provided,
Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr9:108397538-108397539
GRCh38:
Chr9:105635257-105635258
FKTNY329fs, Y438fs, Y461fsCardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X,
not provided, Walker-Warburg congenital muscular dystrophy
Uncertain significance
(Jan 23, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr9:108366571
GRCh38:
Chr9:105604290
FKTNG149R, G126R, G17RWalker-Warburg congenital muscular dystrophy, not provided, Dilated cardiomyopathy 1X,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr9:108368857
GRCh38:
Chr9:105606576
FKTNWalker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Pathogenic/Likely pathogenic
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr9:108366685
GRCh38:
Chr9:105604404
FKTNG187S, G55S, G164SMuscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Walker-Warburg congenital muscular dystrophy,
not provided
Uncertain significance
(Jan 13, 2023)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr9:108397496
GRCh38:
Chr9:105635215
FKTNN446I, N423I, N314ICardiovascular phenotype, not provided, Walker-Warburg congenital muscular dystrophy,
Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Conflicting interpretations of pathogenicity
(Oct 5, 2022)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr9:108337320
GRCh38:
Chr9:105575039
FKTNR3GInborn genetic diseases, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X,
Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4,
Walker-Warburg congenital muscular dystrophy
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr9:108370218
GRCh38:
Chr9:105607937
FKTNCardiovascular phenotype, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy, not provided
Conflicting interpretations of pathogenicity
(Sep 13, 2022)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr9:108380227
GRCh38:
Chr9:105617946
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy, not provided,
Dilated cardiomyopathy 1X, not specified
Conflicting interpretations of pathogenicity
(Aug 18, 2022)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr9:108403362
GRCh38:
Chr9:105641081
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr9:108403163
GRCh38:
Chr9:105640882
FKTNnot provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
Benign/Likely benign
(May 11, 2021)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr9:108403123
GRCh38:
Chr9:105640842
FKTNDilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided
Conflicting interpretations of pathogenicity
(Jul 1, 2023)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr9:108403062
GRCh38:
Chr9:105640781
FKTNnot provided, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Conflicting interpretations of pathogenicity
(May 12, 2021)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr9:108402901
GRCh38:
Chr9:105640620
FKTNDilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr9:108402805
GRCh38:
Chr9:105640524
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XBenign/Likely benign
(Jan 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr9:108402706
GRCh38:
Chr9:105640425
FKTNDilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Dilated cardiomyopathy 1X
Uncertain significance
(Feb 14, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr9:108402607
GRCh38:
Chr9:105640326
FKTNnot provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
Benign/Likely benign
(Jun 23, 2018)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr9:108402586
GRCh38:
Chr9:105640305
FKTNnot provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
Benign/Likely benign
(Jun 14, 2018)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr9:108402548
GRCh38:
Chr9:105640267
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M,
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Dilated cardiomyopathy 1X
Uncertain significance
(Oct 4, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr9:108402485
GRCh38:
Chr9:105640204
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr9:108402370
GRCh38:
Chr9:105640089
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided, Dilated cardiomyopathy 1X,
not specified
Conflicting interpretations of pathogenicity
(Sep 13, 2022)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr9:108402144
GRCh38:
Chr9:105639863
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr9:108401463
GRCh38:
Chr9:105639182
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr9:108401406
GRCh38:
Chr9:105639125
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided, Dilated cardiomyopathy 1X
Conflicting interpretations of pathogenicity
(Sep 1, 2021)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr9:108401092
GRCh38:
Chr9:105638811
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M,
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Dilated cardiomyopathy 1X
Uncertain significance
(Sep 29, 2021)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr9:108400922
GRCh38:
Chr9:105638641
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr9:108400701
GRCh38:
Chr9:105638420
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr9:108400591
GRCh38:
Chr9:105638310
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr9:108400529
GRCh38:
Chr9:105638248
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr9:108400455
GRCh38:
Chr9:105638174
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr9:108400449
GRCh38:
Chr9:105638168
FKTNDilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr9:108400061
GRCh38:
Chr9:105637780
FKTNDilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr9:108400053
GRCh38:
Chr9:105637772
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M,
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1,
Dilated cardiomyopathy 1X
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr9:108400050
GRCh38:
Chr9:105637769
FKTNDilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr9:108399978
GRCh38:
Chr9:105637697
FKTNDilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Dilated cardiomyopathy 1X
Uncertain significance
(Aug 11, 2021)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr9:108399810
GRCh38:
Chr9:105637529
FKTNDilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,
Dilated cardiomyopathy 1X
Uncertain significance
(Feb 2, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr9:108399390
GRCh38:
Chr9:105637109
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr9:108399226
GRCh38:
Chr9:105636945
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr9:108399056
GRCh38:
Chr9:105636775
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr9:108398821
GRCh38:
Chr9:105636540
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr9:108398794
GRCh38:
Chr9:105636513
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr9:108398678
GRCh38:
Chr9:105636397
FKTNnot provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X
Benign/Likely benign
(May 13, 2021)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr9:108398563
GRCh38:
Chr9:105636282
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr9:108398562
GRCh38:
Chr9:105636281
FKTNMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1XUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination