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Items: 1 to 100 of 24923

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:179665220
GRCh38:
Chr2:178800493
TTNL162Rnot providedUncertain significance
(May 18, 2021)
criteria provided, single submitterVCV001256627
2.
GRCh37:
Chr2:179484560
GRCh38:
Chr2:178619833
TTN, TTN-AS1A12927D, A13854D, A15495D, A6430D, A6555D, A6622Dnot providedUncertain significance
(Feb 25, 2021)
criteria provided, single submitterVCV001256626
3.
GRCh37:
Chr2:179490073
GRCh38:
Chr2:178625346
TTNnot specifiedLikely benign
(Sep 24, 2020)
criteria provided, single submitterVCV001256625
4.
GRCh37:
Chr2:179517798
GRCh38:
Chr2:178653071
TTNP12949Snot providedUncertain significance
(Mar 2, 2021)
criteria provided, single submitterVCV001256624
5.
GRCh37:
Chr2:179647032
GRCh38:
Chr2:178782305
TTNG1050V, G1096Vnot providedUncertain significance
(Sep 24, 2020)
criteria provided, single submitterVCV001256623
6.
GRCh37:
Chr19:13325327
GRCh38:
Chr19:13214513
CACNA1AT1943A, T1944A, T1946A, T1949Anot providedUncertain significance
(Oct 16, 2020)
criteria provided, single submitterVCV001256622
7.
GRCh37:
Chr2:179592593
GRCh38:
Chr2:178727866
TTNnot providedUncertain significance
(Nov 24, 2020)
criteria provided, single submitterVCV001256621
8.
GRCh37:
Chr2:179594108
GRCh38:
Chr2:178729381
TTNT5015A, T5942A, T6259Anot specifiedLikely benign
(Jun 7, 2021)
criteria provided, single submitterVCV001256620
9.
GRCh37:
Chr19:13325393
GRCh38:
Chr19:13214579
CACNA1AE1921K, E1922K, E1924K, E1927Knot providedUncertain significance
(Feb 16, 2021)
criteria provided, single submitterVCV001256619
10.
GRCh37:
Chr2:179603942
GRCh38:
Chr2:178739215
TTNG4310E, G4356E, G4435E, G4502E, G4673Enot providedUncertain significance
(Jan 26, 2021)
criteria provided, single submitterVCV001256618
11.
GRCh37:
Chr2:179604239
GRCh38:
Chr2:178739512
TTNE4211V, E4257V, E4336V, E4403V, E4574Vnot providedUncertain significance
(Feb 25, 2021)
criteria provided, single submitterVCV001256617
12.
GRCh37:
Chr2:241727611
GRCh38:
Chr2:240788194
KIF1AY74Nnot providedUncertain significance
(Nov 19, 2020)
criteria provided, single submitterVCV001256616
13.
GRCh37:
Chr2:166852617
GRCh38:
Chr2:165996107
LOC102724058, SCN1AQ1467P, Q1468P, Q1484P, Q1485P, Q1496P, Q682Pnot providedUncertain significance
(Jun 9, 2021)
criteria provided, single submitterVCV001256615
14.
GRCh37:
Chr2:166913008
GRCh38:
Chr2:166056498
SCN1AL129*not providedPathogenic
(Apr 8, 2021)
criteria provided, single submitterVCV001256614
15.
GRCh37:
Chr2:162813609
GRCh38:
Chr2:161957099
SLC4A10not specifiedLikely benign
(Nov 16, 2020)
criteria provided, single submitterVCV001256613
16.
GRCh37:
Chr19:13345775
GRCh38:
Chr19:13234961
CACNA1AN1737Y, N1738Y, N1740Y, N1743Ynot providedUncertain significance
(Apr 12, 2021)
criteria provided, single submitterVCV001256612
17.
GRCh37:
Chr3:4842110
GRCh38:
Chr3:4800426
ITPR1not providedUncertain significance
(Sep 14, 2020)
criteria provided, single submitterVCV001256611
18.
GRCh37:
Chr3:4821242
GRCh38:
Chr3:4779558
ITPR1not specifiedLikely benign
(Jan 15, 2021)
criteria provided, single submitterVCV001256610
19.
GRCh37:
Chr3:4810304
GRCh38:
Chr3:4768620
ITPR1not specifiedLikely benign
(Jan 5, 2021)
criteria provided, single submitterVCV001256609
20.
GRCh37:
Chr3:4810239
GRCh38:
Chr3:4768555
ITPR1L1861F, L1876F, L1909F, L1924Fnot providedUncertain significance
(Sep 18, 2020)
criteria provided, single submitterVCV001256608
21.
GRCh37:
Chr3:4738926
GRCh38:
Chr3:4697242
ITPR1L1435F, L1444F, L1450F, L1459Fnot providedUncertain significance
(Feb 10, 2021)
criteria provided, single submitterVCV001256607
22.
GRCh37:
Chr19:13346442
GRCh38:
Chr19:13235628
CACNA1AV1685M, V1686M, V1688M, V1691Mnot providedUncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV001256606
23.
GRCh37:
Chr3:4725226
GRCh38:
Chr3:4683542
ITPR1not providedUncertain significance
(Apr 12, 2021)
criteria provided, single submitterVCV001256605
24.
GRCh37:
Chr3:4725191
GRCh38:
Chr3:4683507
ITPR1R1071W, R1080W, R1086W, R1095Wnot providedUncertain significance
(Oct 23, 2020)
criteria provided, single submitterVCV001256604
25.
GRCh37:
Chr3:4712594
GRCh38:
Chr3:4670910
ITPR1V715I, V730Inot providedUncertain significance
(Feb 5, 2021)
criteria provided, single submitterVCV001256603
26.
GRCh37:
Chr3:4709091
GRCh38:
Chr3:4667407
ITPR1Q567fs, Q582fsnot providedLikely pathogenic
(Nov 11, 2020)
criteria provided, single submitterVCV001256602
27.
GRCh37:
Chr1:210273354
GRCh38:
Chr1:210100009
SYT14not specifiedBenign
(May 5, 2021)
criteria provided, single submitterVCV001256601
28.
GRCh37:
Chr1:210194524
GRCh38:
Chr1:210021179
SYT14W123R, W168R, W85Rnot providedUncertain significance
(Mar 23, 2021)
criteria provided, single submitterVCV001256600
29.
GRCh37:
Chr1:210187034
GRCh38:
Chr1:210013689
SYT14L2M, L40M, L85Mnot providedUncertain significance
(Mar 31, 2021)
criteria provided, single submitterVCV001256599
30.
GRCh37:
Chr1:210139302
GRCh38:
Chr1:209965957
SYT14R47Hnot providedUncertain significance
(Sep 16, 2020)
criteria provided, single submitterVCV001256598
31.
GRCh37:
Chr1:210329083
GRCh38:
Chr1:210155738
SYT14M356I, M394I, M439Inot providedUncertain significance
(Oct 30, 2020)
criteria provided, single submitterVCV001256597
32.
GRCh37:
Chr1:210139277
GRCh38:
Chr1:209965932
SYT14T39Anot providedUncertain significance
(Jan 8, 2021)
criteria provided, single submitterVCV001256596
33.
GRCh37:
Chr14:21161855
GRCh38:
Chr14:20693696
ANG, RNASE4not specifiedBenign
(Feb 18, 2021)
criteria provided, single submitterVCV001256595
34.
GRCh37:
Chr2:85617273
GRCh38:
Chr2:85390150
ELMOD3not specifiedLikely benign
(Mar 3, 2021)
criteria provided, single submitterVCV001256594
35.
GRCh37:
Chr11:17794025
GRCh38:
Chr11:17772478
KCNC1R462Wnot providedUncertain significance
(Oct 30, 2020)
criteria provided, single submitterVCV001256593
36.
GRCh37:
Chr7:94257569
GRCh38:
Chr7:94628257
CASD1, SGCEG112E, G148E, G21E, G71E, G83Enot providedUncertain significance
(Dec 15, 2020)
criteria provided, single submitterVCV001256592
37.
GRCh37:
Chr16:23226779
GRCh38:
Chr16:23215458
SCNN1GD647Ynot providedUncertain significance
(Feb 25, 2021)
criteria provided, single submitterVCV001256591
38.
GRCh37:
Chr19:10940796
GRCh38:
Chr19:10830120
DNM2not providedUncertain significance
(Feb 1, 2021)
criteria provided, single submitterVCV001256590
39.
GRCh37:
Chr19:10935896
GRCh38:
Chr19:10825220
DNM2N682S, N686Snot providedUncertain significance
(Nov 3, 2020)
criteria provided, single submitterVCV001256589
40.
GRCh37:
Chr12:13906448
GRCh38:
Chr12:13753514
GRIN2Bnot specifiedLikely benign
(Sep 14, 2020)
criteria provided, single submitterVCV001256588
41.
GRCh37:
Chr8:67089590
GRCh38:
Chr8:66177355
CRHnot specifiedLikely benign
(Apr 23, 2021)
criteria provided, single submitterVCV001256587
42.
GRCh37:
Chr2:152727063
GRCh38:
Chr2:151870549
CACNB4V174I, V187I, V203Inot specifiedLikely benign
(Oct 23, 2020)
criteria provided, single submitterVCV001256586
43.
GRCh37:
Chr2:152727134
GRCh38:
Chr2:151870620
CACNB4not providedUncertain significance
(Mar 31, 2021)
criteria provided, single submitterVCV001256585
44.
GRCh37:
Chr2:152737424
GRCh38:
Chr2:151880910
CACNB4A47T, A60T, A76T, A94Tnot providedUncertain significance
(Dec 18, 2020)
criteria provided, single submitterVCV001256584
45.
GRCh37:
Chr19:13397338
GRCh38:
Chr19:13286524
CACNA1AL1178F, L1179F, L1182Fnot providedUncertain significance
(Sep 15, 2020)
criteria provided, single submitterVCV001256583
46.
GRCh37:
Chr1:160094178
GRCh38:
Chr1:160124388
ATP1A2not specifiedBenign
(Nov 12, 2020)
criteria provided, single submitterVCV001256582
47.
GRCh37:
Chr1:160109760
GRCh38:
Chr1:160139970
ATP1A2R1007Pnot providedUncertain significance
(Oct 26, 2020)
criteria provided, single submitterVCV001256581
48.
GRCh37:
Chr16:2137886
GRCh38:
Chr16:2087885
TSC2V1427E, V1556E, V1568E, V1604E, V1605E, V1615E, V1627E, V1628E, V1648E, V1671Enot providedLikely pathogenic
(Jan 20, 2021)
criteria provided, single submitterVCV001256580
49.
GRCh37:
Chr16:2134950
GRCh38:
Chr16:2084949
TSC2not providedPathogenic
(Jan 20, 2021)
criteria provided, single submitterVCV001256579
50.
GRCh37:
Chr16:2124206-2124207
GRCh38:
Chr16:2074205-2074206
TSC2M588fs, M739fs, M751fs, M788fs, M799fsnot providedPathogenic
(Apr 5, 2021)
criteria provided, single submitterVCV001256578
51.
GRCh37:
Chr12:121431404
GRCh38:
Chr12:120993601
HNF1AR203Lnot providedUncertain significance
(Sep 23, 2020)
criteria provided, single submitterVCV001256577
52.
GRCh37:
Chr12:121431372
GRCh38:
Chr12:120993569
HNF1AD192fsnot providedPathogenic
(Apr 14, 2021)
criteria provided, single submitterVCV001256576
53.
GRCh37:
Chr12:121431304
GRCh38:
Chr12:120993501
HNF1Anot providedUncertain significance
(Dec 31, 2020)
criteria provided, single submitterVCV001256575
54.
GRCh37:
Chr12:121426836-121426839
GRCh38:
Chr12:120989033-120989036
HNF1Anot providedUncertain significance
(May 27, 2021)
criteria provided, single submitterVCV001256574
55.
GRCh37:
Chr12:121426709-121426710
GRCh38:
Chr12:120988906-120988907
HNF1Anot providedUncertain significance
(Mar 11, 2021)
criteria provided, single submitterVCV001256573
56.
GRCh37:
Chr12:121416588
GRCh38:
Chr12:120978785
HNF1AS6Inot providedUncertain significance
(Oct 14, 2020)
criteria provided, single submitterVCV001256572
57.
GRCh37:
Chr12:121437303-121437304
GRCh38:
Chr12:120999500-120999501
HNF1AE548fs, E555fsnot providedPathogenic
(Sep 24, 2020)
criteria provided, single submitterVCV001256571
58.
GRCh37:
Chr12:121437052-121437053
GRCh38:
Chr12:120999249-120999250
HNF1Anot providedUncertain significance
(Feb 10, 2021)
criteria provided, single submitterVCV001256570
59.
GRCh37:
Chr12:121434186-121434187
GRCh38:
Chr12:120996383-120996384
HNF1AS361fsnot providedPathogenic
(Feb 19, 2021)
criteria provided, single submitterVCV001256569
60.
GRCh37:
Chr1:161277059
GRCh38:
Chr1:161307269
MPZD75Ynot providedUncertain significance
(Feb 26, 2021)
criteria provided, single submitterVCV001256568
61.
GRCh37:
Chr19:13409735
GRCh38:
Chr19:13298921
CACNA1Anot specifiedLikely benign
(May 11, 2021)
criteria provided, single submitterVCV001256567
62.
GRCh37:
Chr8:143957712
GRCh38:
Chr8:142876296
CYP11B1, LOC106799833S300Wnot providedUncertain significance
(Sep 14, 2020)
criteria provided, single submitterVCV001256566
63.
GRCh37:
Chr8:143958099
GRCh38:
Chr8:142876683
CYP11B1, LOC106799833not providedUncertain significance
(May 13, 2021)
criteria provided, single submitterVCV001256565
64.
GRCh37:
Chr21:27354743
GRCh38:
Chr21:25982430
APPE249K, E270K, E305K, E324K, E356K, E361K, E380Knot providedUncertain significance
(Jan 27, 2021)
criteria provided, single submitterVCV001256564
65.
GRCh37:
Chr21:27253979
GRCh38:
Chr21:25881668
APPnot providedUncertain significance
(Sep 17, 2020)
criteria provided, single submitterVCV001256563
66.
GRCh37:
Chr19:13409918-13409929
GRCh38:
Chr19:13299104-13299115
CACNA1Anot providedUncertain significance
(Mar 31, 2021)
criteria provided, single submitterVCV001256562
67.
GRCh37:
Chr17:36099601
GRCh38:
Chr17:37739610
HNF1BI125Nnot providedUncertain significance
(Feb 10, 2021)
criteria provided, single submitterVCV001256561
68.
GRCh37:
Chr20:43043188
GRCh38:
Chr20:44414548
HNF4Anot specifiedLikely benign
(Sep 25, 2020)
criteria provided, single submitterVCV001256560
69.
GRCh37:
Chr20:43056957
GRCh38:
Chr20:44428317
HNF4Anot specifiedLikely benign
(Mar 4, 2021)
criteria provided, single submitterVCV001256559
70.
GRCh37:
Chr20:43052849
GRCh38:
Chr20:44424209
HNF4AG337S, G340S, G355S, G362Snot providedUncertain significance
(Mar 11, 2021)
criteria provided, single submitterVCV001256558
71.
GRCh37:
Chr21:33036112-33036117
GRCh38:
Chr21:31663799-31663804
SOD1not providedUncertain significance
(Apr 30, 2021)
criteria provided, single submitterVCV001256557
72.
GRCh37:
ChrX:605284
ChrY:555284
GRCh38:
ChrX:644549
ChrY:644549
SHOXnot providedUncertain significance
(Apr 23, 2021)
criteria provided, single submitterVCV001256556
73.
GRCh37:
ChrX:601587
ChrY:551587
GRCh38:
ChrX:640852
ChrY:640852
SHOXR173Hnot providedPathogenic
(Dec 1, 2020)
criteria provided, single submitterVCV001256555
74.
GRCh37:
ChrX:595575
ChrY:545575
GRCh38:
ChrY:634840
ChrX:634840
LOC107652445, SHOXnot specifiedLikely benign
(Feb 23, 2021)
criteria provided, single submitterVCV001256554
75.
GRCh37:
ChrX:595514
ChrY:545514
GRCh38:
ChrX:634779
ChrY:634779
LOC107652445, SHOXR147Snot providedUncertain significance
(Dec 15, 2020)
criteria provided, single submitterVCV001256553
76.
GRCh37:
ChrX:595449
ChrY:545449
GRCh38:
ChrX:634714
ChrY:634714
LOC107652445, SHOXT125Mnot providedUncertain significance
(Mar 19, 2021)
criteria provided, single submitterVCV001256552
77.
GRCh37:
ChrX:595439
ChrY:545439
GRCh38:
ChrX:634704
ChrY:634704
LOC107652445, SHOXT122Pnot providedUncertain significance
(Nov 19, 2020)
criteria provided, single submitterVCV001256551
78.
GRCh37:
ChrX:595417
ChrY:545417
GRCh38:
ChrX:634682
ChrY:634682
LOC107652445, SHOXnot providedUncertain significance
(Mar 22, 2021)
criteria provided, single submitterVCV001256550
79.
GRCh37:
ChrX:591893
ChrY:541893
GRCh38:
ChrX:631158
ChrY:631158
SHOXnot providedUncertain significance
(Nov 16, 2020)
criteria provided, single submitterVCV001256549
80.
GRCh37:
Chr1:227069638
GRCh38:
Chr1:226881937
PSEN2E11fsnot providedUncertain significance
(Feb 11, 2021)
criteria provided, single submitterVCV001256548
81.
GRCh37:
Chr8:145009207
GRCh38:
Chr8:143935039
PLECP234L, P244L, P252L, P266L, P270L, P293L, P403Lnot providedUncertain significance
(Oct 26, 2020)
criteria provided, single submitterVCV001256547
82.
GRCh37:
Chr8:144996449
GRCh38:
Chr8:143922281
PLECA2482T, A2492T, A2500T, A2514T, A2518T, A2541T, A2651Tnot providedUncertain significance
(Nov 16, 2020)
criteria provided, single submitterVCV001256546
83.
GRCh37:
Chr8:144997179
GRCh38:
Chr8:143923011
PLECnot specifiedLikely benign
(Jan 6, 2021)
criteria provided, single submitterVCV001256545
84.
GRCh37:
Chr19:13414707
GRCh38:
Chr19:13303893
CACNA1Anot providedUncertain significance
(May 5, 2021)
criteria provided, single submitterVCV001256544
85.
GRCh37:
Chr14:73637513
GRCh38:
Chr14:73170805
PSEN1not specifiedBenign
(Feb 11, 2021)
criteria provided, single submitterVCV001256543
86.
GRCh37:
Chr19:15302315-15302316
GRCh38:
Chr19:15191504-15191505
NOTCH3A319Cnot providedPathogenic
(Sep 21, 2020)
criteria provided, single submitterVCV001256542
87.
GRCh37:
Chr19:15302317
GRCh38:
Chr19:15191506
NOTCH3C318Wnot providedLikely pathogenic
(Feb 8, 2021)
criteria provided, single submitterVCV001256541
88.
GRCh37:
Chr19:15271758
GRCh38:
Chr19:15160947
NOTCH3H2227Qnot providedUncertain significance
(Apr 23, 2021)
criteria provided, single submitterVCV001256540
89.
GRCh37:
Chr19:15271893
GRCh38:
Chr19:15161082
NOTCH3not specifiedLikely benign
(Sep 21, 2020)
criteria provided, single submitterVCV001256539
90.
GRCh37:
Chr19:15272028
GRCh38:
Chr19:15161217
NOTCH3not specifiedLikely benign
(Apr 6, 2021)
criteria provided, single submitterVCV001256538
91.
GRCh37:
Chr19:15272172
GRCh38:
Chr19:15161361
NOTCH3not providedUncertain significance
(Apr 12, 2021)
criteria provided, single submitterVCV001256537
92.
GRCh37:
Chr19:15272184
GRCh38:
Chr19:15161373
NOTCH3not providedUncertain significance
(Jan 20, 2021)
criteria provided, single submitterVCV001256536
93.
GRCh37:
Chr19:15302826
GRCh38:
Chr19:15192015
NOTCH3not specifiedLikely benign
(Nov 20, 2020)
criteria provided, single submitterVCV001256535
94.
GRCh37:
Chr19:15272310
GRCh38:
Chr19:15161499
NOTCH3not providedUncertain significance
(May 19, 2021)
criteria provided, single submitterVCV001256534
95.
GRCh37:
Chr19:15302848
GRCh38:
Chr19:15192037
NOTCH3C201Snot providedPathogenic
(Nov 9, 2020)
criteria provided, single submitterVCV001256533
96.
GRCh37:
Chr19:15272423
GRCh38:
Chr19:15161612
NOTCH3R2006Wnot providedUncertain significance
(Nov 16, 2020)
criteria provided, single submitterVCV001256532
97.
GRCh37:
Chr19:15272502
GRCh38:
Chr19:15161691
NOTCH3not specifiedBenign
(Sep 29, 2020)
criteria provided, single submitterVCV001256531
98.
GRCh37:
Chr19:15302869
GRCh38:
Chr19:15192058
NOTCH3C194Ynot providedPathogenic
(Apr 28, 2021)
criteria provided, single submitterVCV001256530
99.
GRCh37:
Chr19:15302884
GRCh38:
Chr19:15192073
NOTCH3Y189Cnot providedPathogenic
(Nov 16, 2020)
criteria provided, single submitterVCV001256529
100.
GRCh37:
Chr19:15302897
GRCh38:
Chr19:15192086
NOTCH3C185Gnot providedPathogenic
(Nov 16, 2020)
criteria provided, single submitterVCV001256528
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