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Items: 1 to 100 of 177

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:111782258
GRCh38:
Chr11:111911534
CRYABG64EDilated cardiomyopathy 1IIUncertain significance
(Feb 27, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr11:111779488-111782448
CRYABDilated cardiomyopathy 1IIPathogenic
(Dec 18, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr11:111779520
GRCh38:
Chr11:111908796
CRYABK166*, K99*Dilated cardiomyopathy 1IIUncertain significance
(Mar 21, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr11:111781032
GRCh38:
Chr11:111910308
CRYABDilated cardiomyopathy 1IIBenign
(May 12, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr11:111782389
GRCh38:
Chr11:111911665
CRYABDilated cardiomyopathy 1IILikely benign
(Jul 5, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr11:111782371
GRCh38:
Chr11:111911647
CRYABQ26HDilated cardiomyopathy 1IIUncertain significance
(Mar 13, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr11:111781032
GRCh38:
Chr11:111910308
CRYABDilated cardiomyopathy 1IILikely benign
(Aug 22, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr11:111781127-111781129
GRCh38:
Chr11:111910403-111910405
CRYABDilated cardiomyopathy 1IIUncertain significance
(May 2, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr11:111779621
GRCh38:
Chr11:111908897
CRYABT132I, T65IDilated cardiomyopathy 1IIUncertain significance
(Jun 16, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr11:111782256
GRCh38:
Chr11:111911532
CRYABL65IDilated cardiomyopathy 1IIUncertain significance
(Feb 27, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr11:111781046
GRCh38:
Chr11:111910322
CRYABDilated cardiomyopathy 1IIUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr11:111779565
GRCh38:
Chr11:111908841
CRYABQ84E, Q151EDilated cardiomyopathy 1IIUncertain significance
(Apr 18, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:111779578
GRCh38:
Chr11:111908854
CRYABDilated cardiomyopathy 1IILikely benign
(Jul 17, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:111779630
GRCh38:
Chr11:111908906
CRYABD62G, D129GDilated cardiomyopathy 1IIUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:111781075
GRCh38:
Chr11:111910351
CRYABDilated cardiomyopathy 1IILikely benign
(Feb 19, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:111782276
GRCh38:
Chr11:111911552
CRYABP58LDilated cardiomyopathy 1IIUncertain significance
(Dec 27, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr11:111779550-111779551
GRCh38:
Chr11:111908826-111908827
CRYABE156*, E89*Dilated cardiomyopathy 1IIUncertain significance
(Dec 24, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr11:111782332
GRCh38:
Chr11:111911608
CRYABDilated cardiomyopathy 1IILikely benign
(Jul 20, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:111779583
GRCh38:
Chr11:111908859
CRYABV145M, V78MDilated cardiomyopathy 1IIUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:111781181
GRCh38:
Chr11:111910457
CRYABDilated cardiomyopathy 1IILikely benign
(Aug 30, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr11:111779511-111779517
GRCh38:
Chr11:111908787-111908793
CRYABP100fs, P167fsDilated cardiomyopathy 1IIUncertain significance
(Aug 7, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr11:111779696
GRCh38:
Chr11:111908972
CRYABDilated cardiomyopathy 1IIUncertain significance
(Jul 18, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:111782361
GRCh38:
Chr11:111911637
CRYABE30KDilated cardiomyopathy 1IIUncertain significance
(Jul 7, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr11:111782442
GRCh38:
Chr11:111911718
CRYABI3VDilated cardiomyopathy 1IIUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:111779497
GRCh38:
Chr11:111908773
CRYABDilated cardiomyopathy 1IILikely benign
(Mar 13, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:111779505
GRCh38:
Chr11:111908781
CRYABA104S, A171SDilated cardiomyopathy 1IIUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr11:111779602
GRCh38:
Chr11:111908878
CRYABDilated cardiomyopathy 1IILikely benign
(Oct 9, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:111782254
GRCh38:
Chr11:111911530
CRYABCardiovascular phenotype, Dilated cardiomyopathy 1IILikely benign
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr11:111782447
GRCh38:
Chr11:111911723
CRYABM1TDilated cardiomyopathy 1II, not providedConflicting interpretations of pathogenicity
(Jun 13, 2022)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr11:111781108
GRCh38:
Chr11:111910384
CRYABDilated cardiomyopathy 1IILikely benign
(Oct 25, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr11:111782238
GRCh38:
Chr11:111911514
CRYABDilated cardiomyopathy 1IILikely benign
(Sep 4, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr11:111781038
GRCh38:
Chr11:111910314
CRYABDilated cardiomyopathy 1IILikely benign
(May 5, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr11:111779700
GRCh38:
Chr11:111908976
CRYABDilated cardiomyopathy 1IILikely benign
(Apr 20, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr11:111781155
GRCh38:
Chr11:111910431
CRYABDilated cardiomyopathy 1IILikely benign
(May 30, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:111781040
GRCh38:
Chr11:111910316
CRYABDilated cardiomyopathy 1IILikely benign
(Oct 31, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr11:111779536
GRCh38:
Chr11:111908812
CRYABDilated cardiomyopathy 1IILikely benign
(Dec 2, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr11:111781189
GRCh38:
Chr11:111910465
CRYABDilated cardiomyopathy 1IIBenign
(Aug 12, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:111782383
GRCh38:
Chr11:111911659
CRYABDilated cardiomyopathy 1IILikely benign
(Aug 14, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr11:111782314
GRCh38:
Chr11:111911590
CRYABDilated cardiomyopathy 1II, Cardiovascular phenotypeLikely benign
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr11:111782353
GRCh38:
Chr11:111911629
CRYABDilated cardiomyopathy 1IILikely benign
(Jan 3, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:111782231
GRCh38:
Chr11:111911507
CRYABDilated cardiomyopathy 1IILikely benign
(Mar 15, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:111782319
GRCh38:
Chr11:111911595
CRYABDilated cardiomyopathy 1IILikely benign
(May 16, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr11:111779615
GRCh38:
Chr11:111908891
CRYABT134I, T67IDilated cardiomyopathy 1IIUncertain significance
(Oct 7, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr11:111782429
GRCh38:
Chr11:111911705
CRYABH7RDilated cardiomyopathy 1IIUncertain significance
(Oct 20, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:111779654
GRCh38:
Chr11:111908930
CRYABK54R, K121RDilated cardiomyopathy 1II, Myofibrillar myopathy 2, Cataract 16 multiple types,
Fatal infantile hypertonic myofibrillar myopathy, Dilated cardiomyopathy 1II
Uncertain significance
(Dec 9, 2021)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:111779513
GRCh38:
Chr11:111908789
CRYABA101G, A168GMyofibrillar myopathy 2, Dilated cardiomyopathy 1IIUncertain significance
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr11:111779559
GRCh38:
Chr11:111908835
CRYABS153A, S86ADilated cardiomyopathy 1IIUncertain significance
(Oct 5, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr11:111779640
GRCh38:
Chr11:111908916
CRYABA59fs, A126fsDilated cardiomyopathy 1IIUncertain significance
(Jul 13, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr11:111782301
GRCh38:
Chr11:111911577
CRYABR50WDilated cardiomyopathy 1II, not provided, Cataract 16 multiple types
Uncertain significance
(Apr 14, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr11:111782393
GRCh38:
Chr11:111911669
CRYABS19FDilated cardiomyopathy 1IIUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr11:111779488-111780026
CRYABDilated cardiomyopathy 1IIPathogenic
(Aug 22, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr11:111782432
GRCh38:
Chr11:111911708
CRYABH6LInborn genetic diseases, Dilated cardiomyopathy 1IIUncertain significance
(Dec 1, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr11:111779635
GRCh38:
Chr11:111908911
CRYABD127E, D60EDilated cardiomyopathy 1IIUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr11:111782411
GRCh38:
Chr11:111911687
CRYABP13LDilated cardiomyopathy 1IIUncertain significance
(Sep 29, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr11:111779492
GRCh38:
Chr11:111908768
CRYABK108I, K175IDilated cardiomyopathy 1IIUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr11:111779478-111961866
NKAPD1, HSPB2, C11orf52, DLAT, TIMM8B, CRYAB, DIXDC1, SDHD, PIH1D2Dilated cardiomyopathy 1IIUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr11:111781056
GRCh38:
Chr11:111910332
CRYABR107C, R40CDilated cardiomyopathy 1II, not provided, Dilated cardiomyopathy 1II,
Cataract 16 multiple types, Myofibrillar myopathy 2, Fatal infantile hypertonic myofibrillar myopathy
Uncertain significance
(Feb 17, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:111779589
GRCh38:
Chr11:111908865
CRYABL76V, L143VDilated cardiomyopathy 1IIUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:111779619
GRCh38:
Chr11:111908895
CRYABI133V, I66VDilated cardiomyopathy 1IIUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:111781047-111781048
GRCh38:
Chr11:111910323-111910324
CRYABDilated cardiomyopathy 1IIUncertain significance
(May 5, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr11:111779531
GRCh38:
Chr11:111908807
CRYABT162I, T95ICardiovascular phenotype, Dilated cardiomyopathy 1IIUncertain significance
(Oct 11, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr11:111782304
GRCh38:
Chr11:111911580
CRYABL49fsDilated cardiomyopathy 1IIPathogenic
(Nov 9, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr11:111782408
GRCh38:
Chr11:111911684
CRYABF14SDilated cardiomyopathy 1II, Myofibrillar myopathy 2Uncertain significance
(May 18, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr11:111782364
GRCh38:
Chr11:111911640
CRYABG29RDilated cardiomyopathy 1II, not provided, Cardiovascular phenotype
Uncertain significance
(Jun 14, 2023)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr11:111782262
GRCh38:
Chr11:111911538
CRYABT63ACardiovascular phenotype, Dilated cardiomyopathy 1IIUncertain significance
(Aug 4, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr11:111781046-111781047
GRCh38:
Chr11:111910322-111910323
CRYABDilated cardiomyopathy 1IIUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:111781160-111781161
GRCh38:
Chr11:111910436-111910437
CRYABK5fsDilated cardiomyopathy 1IIUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr11:111779540
GRCh38:
Chr11:111908816
CRYABI159N, I92Nnot provided, Dilated cardiomyopathy 1IIUncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr11:111782373
GRCh38:
Chr11:111911649
CRYABQ26*Dilated cardiomyopathy 1IIPathogenic
(May 5, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr11:111782231
GRCh38:
Chr11:111911507
CRYABDilated cardiomyopathy 1IILikely benign
(Nov 1, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:111782365
GRCh38:
Chr11:111911641
CRYABCardiovascular phenotype, not provided, Dilated cardiomyopathy 1II
Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:111779500
GRCh38:
Chr11:111908776
CRYABCardiovascular phenotype, Dilated cardiomyopathy 1IILikely benign
(Apr 16, 2023)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr11:111782283
GRCh38:
Chr11:111911559
CRYABDilated cardiomyopathy 1IILikely benign
(Feb 4, 2020)
criteria provided, single submitter
74.
GRCh37:
Chr11:111782251
GRCh38:
Chr11:111911527
CRYABDilated cardiomyopathy 1IILikely benign
(Jul 19, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr11:111779683
GRCh38:
Chr11:111908959
CRYABDilated cardiomyopathy 1II, not provided, Cardiovascular phenotype
Likely benign
(Jan 1, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr11:111779512
GRCh38:
Chr11:111908788
CRYABCardiovascular phenotype, Dilated cardiomyopathy 1IILikely benign
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr11:111779697
GRCh38:
Chr11:111908973
CRYABDilated cardiomyopathy 1IILikely benign
(Jul 21, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr11:111779593
GRCh38:
Chr11:111908869
CRYABDilated cardiomyopathy 1IILikely benign
(Sep 16, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr11:111779545
GRCh38:
Chr11:111908821
CRYABCardiovascular phenotype, Dilated cardiomyopathy 1IILikely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr11:111781080
GRCh38:
Chr11:111910356
CRYABE32*, E99*Cardiovascular phenotype, Dilated cardiomyopathy 1IIConflicting interpretations of pathogenicity
(Aug 28, 2021)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr11:111779478-111782458
CRYABDilated cardiomyopathy 1IIPathogenic
(Oct 8, 2020)
criteria provided, single submitter
82.
GRCh37:
Chr11:111782415
GRCh38:
Chr11:111911691
CRYABR12Cnot provided, Dilated cardiomyopathy 1IIConflicting interpretations of pathogenicity
(Mar 12, 2022)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr11:111782322
GRCh38:
Chr11:111911598
CRYABS43ADilated cardiomyopathy 1IIUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr11:111782412
GRCh38:
Chr11:111911688
CRYABP13TCardiovascular phenotype, Dilated cardiomyopathy 1II, not provided,
Cataract 16 multiple types, Dilated cardiomyopathy 1II, Fatal infantile hypertonic myofibrillar myopathy,
Myofibrillar myopathy 2
Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr11:111779517
GRCh38:
Chr11:111908793
CRYABP100A, P167ADilated cardiomyopathy 1IIUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr11:111781170
GRCh38:
Chr11:111910446
CRYABR2S, R69SDilated cardiomyopathy 1IIUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr11:111782428
GRCh38:
Chr11:111911704
CRYABH7QDilated cardiomyopathy 1IIUncertain significance
(May 16, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr11:111782345
GRCh38:
Chr11:111911621
CRYABS35FDilated cardiomyopathy 1IIUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr11:111779643
GRCh38:
Chr11:111908919
CRYABP125A, P58ADilated cardiomyopathy 1IIUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr11:111781173
GRCh38:
Chr11:111910449
CRYABM1L, M68Lnot provided, Dilated cardiomyopathy 1IIUncertain significance
(Aug 29, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr11:111779583
GRCh38:
Chr11:111908859
CRYABV145L, V78LInborn genetic diseases, Dilated cardiomyopathy 1IIUncertain significance
(Dec 15, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr11:111781073
GRCh38:
Chr11:111910349
CRYABH101L, H34LDilated cardiomyopathy 1IIUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr11:111781098
GRCh38:
Chr11:111910374
CRYABV26L, V93LDilated cardiomyopathy 1IIUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr11:111782414
GRCh38:
Chr11:111911690
CRYABR12HDilated cardiomyopathy 1IIUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:111782418
GRCh38:
Chr11:111911694
CRYABR11GCataract 16 multiple types, Fatal infantile hypertonic myofibrillar myopathy, Dilated cardiomyopathy 1II,
Myofibrillar myopathy 2, not provided, Dilated cardiomyopathy 1II
Uncertain significance
(Aug 12, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr11:111782318
GRCh38:
Chr11:111911594
CRYABL44PDilated cardiomyopathy 1IIUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr11:111779654
GRCh38:
Chr11:111908930
CRYABK121T, K54TDilated cardiomyopathy 1IIUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr11:111779528
GRCh38:
Chr11:111908804
CRYABR163H, R96HDilated cardiomyopathy 1II, Cardiovascular phenotype, not provided
Uncertain significance
(Mar 31, 2023)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr11:111782248
GRCh38:
Chr11:111911524
CRYABDilated cardiomyopathy 1IIUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr11:111782363
GRCh38:
Chr11:111911639
CRYABG29ADilated cardiomyopathy 1IIUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
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