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Links from MedGen

Items: 1 to 100 of 929

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:72643529
GRCh38:
Chr15:72351188
HEXAV206E, V217ETay-Sachs diseaseLikely pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr15:72638585
GRCh38:
Chr15:72346244
HEXAP471R, P482RTay-Sachs diseaseUncertain significancecriteria provided, single submitter
3.
GRCh37:
Chr15:72640052
GRCh38:
Chr15:72347711
HEXAQ374R, Q385RTay-Sachs diseaseUncertain significancecriteria provided, single submitter
4.
GRCh37:
Chr15:72638869
GRCh38:
Chr15:72346528
HEXAE443D, E454DTay-Sachs diseaseUncertain significancecriteria provided, single submitter
5.
GRCh37:
Chr15:72640406-72640423
GRCh38:
Chr15:72348065-72348082
HEXATay-Sachs diseaseLikely pathogenic
(Mar 31, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr15:72642886
GRCh38:
Chr15:72350545
HEXAP260S, P271STay-Sachs diseaseLikely pathogenic
(Feb 5, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr15:72638664
GRCh38:
Chr15:72346323
HEXAT445A, T456ATay-Sachs diseaseUncertain significance
(Mar 22, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr15:72636482-72640026
HEXATay-Sachs diseaseLikely pathogenic
(Jan 18, 2023)
criteria provided, single submitter
9.
GRCh37:
Chr15:72640432
GRCh38:
Chr15:72348091
HEXAF344I, F355ITay-Sachs diseaseLikely pathogenicno assertion criteria provided
10.
GRCh37:
Chr15:72645507
GRCh38:
Chr15:72353166
HEXAK158E, K169ETay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr15:72636418-73660611
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202Tay-Sachs diseaseUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr15:72637535-72639061
HEXATay-Sachs diseasePathogenic
(Sep 28, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr15:72646063-72653091
HEXATay-Sachs diseasePathogenic
(Jun 17, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr15:72640007-72641620
HEXATay-Sachs diseaseLikely pathogenic
(Apr 10, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr15:72666113-72666961
HEXATay-Sachs diseaseUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr15:72638867-72641658
HEXATay-Sachs diseasePathogenic
(Oct 11, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr15:72638556-72639071
HEXATay-Sachs diseasePathogenic
(Oct 6, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr15:72636452
GRCh38:
Chr15:72344111
HEXAV519A, V530ATay-Sachs diseaseUncertain significance
(May 21, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr15:72638661
GRCh38:
Chr15:72346320
HEXAP457S, P446STay-Sachs diseaseUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr15:72637874
GRCh38:
Chr15:72345533
HEXAV480A, V491ATay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr15:72642920
GRCh38:
Chr15:72350579
HEXATay-Sachs diseaseLikely benign
(Mar 19, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr15:72641437
GRCh38:
Chr15:72349096
HEXATay-Sachs diseaseLikely benign
(Sep 13, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr15:72638968
GRCh38:
Chr15:72346627
HEXATay-Sachs diseaseLikely benign
(Jun 4, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr15:72638651
GRCh38:
Chr15:72346310
HEXAK449R, K460RTay-Sachs diseaseUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr15:72645439
GRCh38:
Chr15:72353098
HEXATay-Sachs diseaseLikely benign
(Jul 23, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr15:72642850
GRCh38:
Chr15:72350509
HEXATay-Sachs diseaseLikely benign
(Aug 10, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr15:72643478
GRCh38:
Chr15:72351137
HEXAR223K, R234KTay-Sachs diseaseUncertain significance
(May 5, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr15:72641439
GRCh38:
Chr15:72349098
HEXAE323*, E334*Tay-Sachs diseasePathogenic
(May 18, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr15:72638671
GRCh38:
Chr15:72346330
HEXATay-Sachs diseaseLikely benign
(Mar 4, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr15:72648904
GRCh38:
Chr15:72356563
HEXAG114E, G103ETay-Sachs diseaseUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr15:72646008
GRCh38:
Chr15:72353667
HEXATay-Sachs diseasePathogenic
(Oct 28, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr15:72638630
GRCh38:
Chr15:72346289
HEXAE467G, E456GTay-Sachs diseaseUncertain significance
(Dec 15, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr15:72639044
GRCh38:
Chr15:72346703
HEXAP385L, P396LTay-Sachs diseaseUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr15:72638570
GRCh38:
Chr15:72346229
HEXATay-Sachs diseaseUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr15:72645406
GRCh38:
Chr15:72353065
HEXATay-Sachs diseaseUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr15:72668124
GRCh38:
Chr15:72375783
HEXAA64TTay-Sachs diseaseUncertain significance
(May 5, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr15:72638573
GRCh38:
Chr15:72346232
HEXATay-Sachs diseaseUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr15:72639038
GRCh38:
Chr15:72346697
HEXAT387I, T398ITay-Sachs diseaseUncertain significance
(Jul 8, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr15:72638679
GRCh38:
Chr15:72346338
HEXATay-Sachs diseaseLikely benign
(Oct 14, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr15:72648906
GRCh38:
Chr15:72356565
HEXATay-Sachs diseaseLikely benign
(May 31, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr15:72668280
GRCh38:
Chr15:72375939
HEXAL12VTay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr15:72668264
GRCh38:
Chr15:72375923
HEXAA17VTay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr15:72668214
GRCh38:
Chr15:72375873
HEXAD34NTay-Sachs diseaseUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr15:72668207
GRCh38:
Chr15:72375866
HEXAR36PTay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr15:72668173
GRCh38:
Chr15:72375832
HEXAQ47HTay-Sachs diseaseUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr15:72668056
GRCh38:
Chr15:72375715
HEXATay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr15:72668042
GRCh38:
Chr15:72375701
HEXATay-Sachs diseaseLikely benign
(Oct 4, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr15:72648927
GRCh38:
Chr15:72356586
HEXAL106F, L95FTay-Sachs diseaseUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr15:72647982
GRCh38:
Chr15:72355641
HEXATay-Sachs diseaseLikely benign
(Mar 1, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr15:72645413
GRCh38:
Chr15:72353072
HEXAT189S, T200STay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr15:72643471
GRCh38:
Chr15:72351130
HEXATay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr15:72642963
GRCh38:
Chr15:72350622
HEXAY234C, Y245CTay-Sachs diseaseUncertain significance
(Jun 4, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr15:72642907
GRCh38:
Chr15:72350566
HEXAV264L, V253LTay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr15:72641580
GRCh38:
Chr15:72349239
HEXAP276A, P287ATay-Sachs diseaseUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr15:72641549
GRCh38:
Chr15:72349208
HEXAT286I, T297ITay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr15:72641517
GRCh38:
Chr15:72349176
HEXAT308A, T297ATay-Sachs diseaseUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr15:72641506
GRCh38:
Chr15:72349165
HEXATay-Sachs diseaseLikely benign
(Feb 19, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr15:72641498
GRCh38:
Chr15:72349157
HEXAT303I, T314ITay-Sachs diseaseUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr15:72640468
GRCh38:
Chr15:72348127
HEXAN343H, N332HTay-Sachs diseaseUncertain significance
(May 13, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr15:72640420
GRCh38:
Chr15:72348079
HEXAF348V, F359VTay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr15:72640379
GRCh38:
Chr15:72348038
HEXATay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr15:72640086
GRCh38:
Chr15:72347745
HEXAV363F, V374FTay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr15:72640085
GRCh38:
Chr15:72347744
HEXAV363D, V374DTay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr15:72640077-72640079
GRCh38:
Chr15:72347736-72347738
HEXAS365del, S376delTay-Sachs diseaseUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr15:72640064
GRCh38:
Chr15:72347723
HEXAY381C, Y370CTay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr15:72640038
GRCh38:
Chr15:72347697
HEXAN390D, N379DTay-Sachs diseaseUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr15:72640037
GRCh38:
Chr15:72347696
HEXAN390S, N379STay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr15:72640031
GRCh38:
Chr15:72347690
HEXAV381E, V392ETay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr15:72639054
GRCh38:
Chr15:72346713
HEXATay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr15:72639046
GRCh38:
Chr15:72346705
HEXAQ384H, Q395HTay-Sachs diseaseUncertain significance
(Apr 13, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr15:72639032
GRCh38:
Chr15:72346691
HEXAI389T, I400TTay-Sachs disease, Inborn genetic diseasesUncertain significance
(Jul 8, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr15:72639002
GRCh38:
Chr15:72346661
HEXAN410S, N399STay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr15:72638989
GRCh38:
Chr15:72346648
HEXAE403D, E414DTay-Sachs diseaseUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr15:72638960
GRCh38:
Chr15:72346619
HEXAR424Q, R413QTay-Sachs diseaseUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr15:72638928
GRCh38:
Chr15:72346587
HEXAR424C, R435CTay-Sachs diseaseUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr15:72638910
GRCh38:
Chr15:72346569
HEXAD441N, D430NTay-Sachs diseaseUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr15:72638666
GRCh38:
Chr15:72346325
HEXAG444D, G455DTay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr15:72638615
GRCh38:
Chr15:72346274
HEXAG472V, G461VTay-Sachs diseasePathogenic
(Sep 12, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr15:72638608
GRCh38:
Chr15:72346267
HEXAY474*, Y463*Tay-Sachs diseasePathogenic
(Apr 25, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr15:72638590
GRCh38:
Chr15:72346249
HEXATay-Sachs diseaseLikely benign
(Sep 22, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr15:72638557
GRCh38:
Chr15:72346216
HEXATay-Sachs diseaseLikely benign
(May 24, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr15:72637839
GRCh38:
Chr15:72345498
HEXAD492H, D503HTay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr15:72637825
GRCh38:
Chr15:72345484
HEXATay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr15:72636476
GRCh38:
Chr15:72344135
HEXAG511V, G522VTay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr15:72643548
GRCh38:
Chr15:72351207
HEXAV211L, V200LTay-Sachs diseaseUncertain significance
(Jul 2, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr15:72642877
GRCh38:
Chr15:72350536
HEXAT263A, T274ATay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr15:72668193
GRCh38:
Chr15:72375852
HEXAP41STay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr15:72642984
GRCh38:
Chr15:72350643
HEXAY238C, Y227CTay-Sachs diseaseUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr15:72638945
GRCh38:
Chr15:72346604
HEXAA418D, A429DTay-Sachs diseaseUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr15:72668301-72668302
GRCh38:
Chr15:72375960-72375961
HEXATay-Sachs diseaseUncertain significance
(Aug 10, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr15:72668310
GRCh38:
Chr15:72375969
HEXAT2ATay-Sachs diseaseUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr15:72668252
GRCh38:
Chr15:72375911
HEXAT21MTay-Sachs diseaseUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr15:72639057
GRCh38:
Chr15:72346716
HEXATay-Sachs diseaseLikely benign
(Feb 6, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr15:72643474
GRCh38:
Chr15:72351133
HEXATay-Sachs diseaseUncertain significance
(Apr 15, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr15:72638922
GRCh38:
Chr15:72346581
HEXAS437A, S426ATay-Sachs diseaseUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr15:72640082
GRCh38:
Chr15:72347741
HEXAS364C, S375CTay-Sachs diseaseUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr15:72648945
GRCh38:
Chr15:72356604
HEXATay-Sachs diseaseLikely benign
(Feb 25, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr15:72643504
GRCh38:
Chr15:72351163
HEXAE214D, E225DTay-Sachs diseaseUncertain significance
(Jun 7, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr15:72643460
GRCh38:
Chr15:72351119
HEXATay-Sachs diseaseLikely benign
(May 6, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr15:72643007
GRCh38:
Chr15:72350666
HEXATay-Sachs diseaseLikely benign
(May 6, 2022)
criteria provided, single submitter
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