S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Links from PubMed

Items: 1 to 100 of 141600

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:71896773
GRCh38:
Chr2:71669643
DYSFD1894V, D1855V, D1842V, D1887V, D1841V, D1862V, D1863V, D1886V, D1856V, D1872V, D1873V, D1876V, D1877V, D1893VQualitative or quantitative defects of dysferlinUncertain significance
(Mar 2, 2017)
criteria provided, single submitterVCV000471318
2.
GRCh37:
Chr2:71895893
GRCh38:
Chr2:71668763
DYSFQ1784*, Q1823*, Q1791*, Q1792*, Q1801*, Q1802*, Q1806*, Q1822*, Q1770*, Q1771*, Q1815*, Q1816*, Q1785*, Q1805*Qualitative or quantitative defects of dysferlinPathogenic
(Mar 1, 2017)
criteria provided, single submitterVCV000471317
3.
GRCh37:
Chr2:71892297
GRCh38:
Chr2:71665167
DYSFG1727A, G1688A, G1689A, G1695A, G1720A, G1674A, G1675A, G1719A, G1706A, G1710A, G1696A, G1705A, G1709A, G1726AQualitative or quantitative defects of dysferlinUncertain significance
(Jul 24, 2019)
criteria provided, single submitterVCV000471316
4.
GRCh37:
Chr2:71891541
GRCh38:
Chr2:71664411
DYSFR1677H, R1716H, R1684H, R1708H, R1709H, R1664H, R1695H, R1699H, R1715H, R1678H, R1694H, R1663H, R1685H, R1698HQualitative or quantitative defects of dysferlinUncertain significance
(Sep 2, 2016)
criteria provided, single submitterVCV000471315
5.
GRCh37:
Chr2:71891540
GRCh38:
Chr2:71664410
DYSFR1716C, R1677C, R1678C, R1684C, R1694C, R1699C, R1664C, R1685C, R1695C, R1709C, R1663C, R1698C, R1708C, R1715Cnot provided, Qualitative or quantitative defects of dysferlinUncertain significance
(Jul 22, 2019)
criteria provided, multiple submitters, no conflictsVCV000471314
6.
GRCh37:
Chr2:71891500
GRCh38:
Chr2:71664370
DYSFQualitative or quantitative defects of dysferlinLikely benign
(Oct 14, 2020)
criteria provided, single submitterVCV000471313
7.
GRCh37:
Chr2:71887748
GRCh38:
Chr2:71660618
DYSFY1618C, Y1657C, Y1626C, Y1636C, Y1656C, Y1635C, Y1640C, Y1650C, Y1604C, Y1639C, Y1649C, Y1605C, Y1619C, Y1625CQualitative or quantitative defects of dysferlinUncertain significance
(Aug 18, 2016)
criteria provided, single submitterVCV000471312
8.
GRCh37:
Chr2:71887714
GRCh38:
Chr2:71660584
DYSFI1646V, I1607V, I1608V, I1615V, I1624V, I1625V, I1628V, I1629V, I1639V, I1593V, I1638V, I1594V, I1614V, I1645Vnot provided, Qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
Uncertain significance
(Dec 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000471311
9.
GRCh37:
Chr2:71886044
GRCh38:
Chr2:71658914
DYSFA1559T, A1598T, A1566T, A1576T, A1577T, A1580T, A1581T, A1591T, A1560T, A1567T, A1590T, A1597T, A1545T, A1546Tnot provided, Qualitative or quantitative defects of dysferlinConflicting interpretations of pathogenicity
(Oct 8, 2020)
criteria provided, conflicting interpretationsVCV000471310
10.
GRCh37:
Chr2:71883336
GRCh38:
Chr2:71656206
DYSFnot providedLikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000471309
11.
GRCh37:
Chr2:71883292
GRCh38:
Chr2:71656162
DYSFV1543I, V1504I, V1491I, V1511I, V1521I, V1522I, V1512I, V1535I, V1505I, V1525I, V1490I, V1526I, V1536I, V1542IAutosomal recessive limb-girdle muscular dystrophy type 2B, not provided, not specified,
Qualitative or quantitative defects of dysferlin
Conflicting interpretations of pathogenicity
(Dec 30, 2019)
criteria provided, conflicting interpretationsVCV000471308
12.
GRCh37:
Chr2:71871157
GRCh38:
Chr2:71644027
DYSFC1491*, C1530*, C1477*, C1512*, C1523*, C1478*, C1498*, C1499*, C1508*, C1509*, C1492*, C1513*, C1522*, C1529*Qualitative or quantitative defects of dysferlinPathogenic
(May 15, 2017)
criteria provided, single submitterVCV000471307
13.
GRCh37:
Chr2:71840495
GRCh38:
Chr2:71613365
DYSFQualitative or quantitative defects of dysferlinLikely benign
(Mar 6, 2017)
criteria provided, single submitterVCV000471306
14.
GRCh37:
Chr2:71839946-71839972
GRCh38:
Chr2:71612816-71612842
DYSFQualitative or quantitative defects of dysferlin, not specifiedLikely benign
(Nov 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000471305
15.
GRCh37:
Chr2:71839844
GRCh38:
Chr2:71612714
DYSFR1432Q, R1414Q, R1415Q, R1431Q, R1445Q, R1400Q, R1401Q, R1446QQualitative or quantitative defects of dysferlinUncertain significance
(Jul 22, 2016)
criteria provided, single submitterVCV000471304
16.
GRCh37:
Chr2:71839828
GRCh38:
Chr2:71612698
DYSFR1409C, R1427C, R1395C, R1396C, R1426C, R1440C, R1410C, R1441CQualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2BUncertain significance
(Dec 12, 2019)
criteria provided, single submitterVCV000471303
17.
GRCh37:
Chr2:71839793
GRCh38:
Chr2:71612663
DYSFY1415C, Y1397C, Y1383C, Y1398C, Y1414C, Y1429C, Y1384C, Y1428CQualitative or quantitative defects of dysferlinUncertain significance
(Jun 7, 2019)
criteria provided, single submitterVCV000471302
18.
GRCh37:
Chr2:71739004
GRCh38:
Chr2:71511874
DYSFT137I, T138IQualitative or quantitative defects of dysferlinUncertain significance
(Oct 10, 2018)
criteria provided, single submitterVCV000471301
19.
GRCh37:
Chr2:71827869
GRCh38:
Chr2:71600739
DYSFP1247L, P1265L, P1264L, P1278L, P1233L, P1248L, P1279L, P1234LQualitative or quantitative defects of dysferlinUncertain significance
(Dec 11, 2019)
criteria provided, single submitterVCV000471300
20.
GRCh37:
Chr2:71825844
GRCh38:
Chr2:71598714
DYSFI1224T, I1242T, I1210T, I1256T, I1225T, I1241T, I1255T, I1211TQualitative or quantitative defects of dysferlinUncertain significance
(Aug 15, 2020)
criteria provided, single submitterVCV000471299
21.
GRCh37:
Chr2:71816813
GRCh38:
Chr2:71589683
DYSFD1147N, D1165N, D1133N, D1178N, D1134N, D1164N, D1148N, D1179NQualitative or quantitative defects of dysferlinUncertain significance
(May 31, 2020)
criteria provided, single submitterVCV000471298
22.
GRCh37:
Chr2:71801443
GRCh38:
Chr2:71574313
DYSFR1097H, R1115H, R1083H, R1084H, R1098H, R1128H, R1129H, R1114HQualitative or quantitative defects of dysferlinUncertain significance
(Apr 18, 2017)
criteria provided, single submitterVCV000471297
23.
GRCh37:
Chr2:71797782
GRCh38:
Chr2:71570652
DYSFP1047A, P1029A, P1015A, P1046A, P1060A, P1061A, P1016A, P1030AAutosomal recessive limb-girdle muscular dystrophy type 2B, Qualitative or quantitative defects of dysferlinUncertain significance
(Aug 5, 2019)
criteria provided, single submitterVCV000471296
24.
GRCh37:
Chr2:71797769
GRCh38:
Chr2:71570639
DYSFQualitative or quantitative defects of dysferlin, not specifiedLikely benign
(Dec 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000471295
25.
GRCh37:
Chr2:71797745
GRCh38:
Chr2:71570615
DYSFI1016M, I1034M, I1017M, I1033M, I1047M, I1048M, I1002M, I1003MQualitative or quantitative defects of dysferlinUncertain significance
(Jun 20, 2017)
criteria provided, single submitterVCV000471294
26.
GRCh37:
Chr2:71730405
GRCh38:
Chr2:71503275
DYSFS100G, S101GQualitative or quantitative defects of dysferlinUncertain significance
(Oct 1, 2016)
criteria provided, single submitterVCV000471293
27.
GRCh37:
Chr2:71797379
GRCh38:
Chr2:71570249
DYSFnot provided, Qualitative or quantitative defects of dysferlinLikely benign
(Nov 26, 2020)
criteria provided, single submitterVCV000471292
28.
GRCh37:
Chr2:71797023
GRCh38:
Chr2:71569893
DYSFG962R, G980R, G949R, G963R, G993R, G948R, G979R, G994RQualitative or quantitative defects of dysferlin, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2B
Uncertain significance
(Jun 10, 2019)
criteria provided, multiple submitters, no conflictsVCV000471291
29.
GRCh37:
Chr2:71796968
GRCh38:
Chr2:71569838
DYSFAutosomal recessive limb-girdle muscular dystrophy type 2B, Qualitative or quantitative defects of dysferlinLikely benign
(Aug 23, 2020)
criteria provided, single submitterVCV000471290
30.
GRCh37:
Chr2:71796960
GRCh38:
Chr2:71569830
DYSFD941H, D959H, D972H, D927H, D942H, D958H, D928H, D973HQualitative or quantitative defects of dysferlinUncertain significance
(Jun 23, 2017)
criteria provided, single submitterVCV000471289
31.
GRCh37:
Chr2:71795464
GRCh38:
Chr2:71568334
DYSFK954E, K936E, K953E, K922E, K923E, K968E, K937E, K967EQualitative or quantitative defects of dysferlinUncertain significance
(Aug 8, 2017)
criteria provided, single submitterVCV000471288
32.
GRCh37:
Chr2:71795188
GRCh38:
Chr2:71568058
DYSFQualitative or quantitative defects of dysferlin, not providedConflicting interpretations of pathogenicity
(Jul 21, 2020)
criteria provided, conflicting interpretationsVCV000471287
33.
GRCh37:
Chr2:71791326
GRCh38:
Chr2:71564196
DYSFQ850K, Q832K, Q819K, Q833K, Q849K, Q863K, Q818K, Q864KQualitative or quantitative defects of dysferlinUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000471286
34.
GRCh37:
Chr2:71789058
GRCh38:
Chr2:71561928
DYSFR780H, R798H, R797H, R812H, R767H, R781H, R766H, R811HQualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2BUncertain significance
(May 11, 2019)
criteria provided, single submitterVCV000471285
35.
GRCh37:
Chr2:71783152
GRCh38:
Chr2:71556022
DYSFV705M, V723M, V706M, V722M, V737M, V691M, V736M, V692MQualitative or quantitative defects of dysferlin, not providedUncertain significance
(Nov 6, 2019)
criteria provided, multiple submitters, no conflictsVCV000471284
36.
GRCh37:
Chr2:71780959
GRCh38:
Chr2:71553829
DYSFnot provided, Qualitative or quantitative defects of dysferlinLikely benign
(Jan 3, 2017)
criteria provided, single submitterVCV000471283
37.
GRCh37:
Chr2:71780273
GRCh38:
Chr2:71553143
DYSFQualitative or quantitative defects of dysferlinLikely benign
(Oct 24, 2019)
criteria provided, single submitterVCV000471282
38.
GRCh37:
Chr2:71778810-71778811
GRCh38:
Chr2:71551680-71551681
DYSFK557fs, K571fs, K589fs, K558fs, K603fs, K602fs, K572fs, K588fsQualitative or quantitative defects of dysferlinPathogenic
(Jun 12, 2019)
criteria provided, single submitterVCV000471281
39.
GRCh37:
Chr2:71709018
GRCh38:
Chr2:71481888
DYSFW53R, W52RQualitative or quantitative defects of dysferlinLikely pathogenic
(Dec 24, 2016)
criteria provided, single submitterVCV000471280
40.
GRCh37:
Chr2:71755492
GRCh38:
Chr2:71528362
DYSFL415F, L447F, L446F, L416FQualitative or quantitative defects of dysferlinUncertain significance
(Mar 6, 2019)
criteria provided, single submitterVCV000471279
41.
GRCh37:
ChrX:53284994
GRCh38:
ChrX:53255812
IQSEC2Mental retardation, X-linked 1, not specifiedLikely benign
(Dec 15, 2017)
criteria provided, multiple submitters, no conflictsVCV000471278
42.
GRCh37:
ChrX:53285118
GRCh38:
ChrX:53255936
IQSEC2V83fs, V288fsMental retardation, X-linked 1Pathogenic
(Feb 27, 2017)
criteria provided, single submitterVCV000471277
43.
GRCh37:
ChrX:53349679
GRCh38:
ChrX:53320481
IQSEC2P215SMental retardation, X-linked 1Benign
(Sep 25, 2017)
criteria provided, single submitterVCV000471276
44.
GRCh37:
ChrX:53263429-53263430
GRCh38:
ChrX:53234247-53234248
IQSEC2K1480fsMental retardation, X-linked 1Pathogenic
(Aug 8, 2017)
criteria provided, single submitterVCV000471275
45.
GRCh37:
ChrX:53349884
GRCh38:
ChrX:53320686
IQSEC2Mental retardation, X-linked 1Uncertain significance
(Jun 26, 2017)
criteria provided, single submitterVCV000471274
46.
GRCh37:
ChrX:53263515
GRCh38:
ChrX:53234333
IQSEC2Mental retardation, X-linked 1Likely benign
(May 19, 2017)
criteria provided, single submitterVCV000471273
47.
GRCh37:
ChrX:53263715
GRCh38:
ChrX:53234533
IQSEC2P1385SMental retardation, X-linked 1Uncertain significance
(Aug 8, 2017)
criteria provided, single submitterVCV000471272
48.
GRCh37:
ChrX:53349979
GRCh38:
ChrX:53320781
IQSEC2G115Cnot provided, Mental retardation, X-linked 1, History of neurodevelopmental disorder
Benign/Likely benign
(Oct 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000471271
49.
GRCh37:
ChrX:53350028
GRCh38:
ChrX:53320830
IQSEC2Mental retardation, X-linked 1Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000471270
50.
GRCh37:
ChrX:53272572
GRCh38:
ChrX:53243390
IQSEC2N944S, N739SMental retardation, X-linked 1Benign
(Aug 30, 2020)
criteria provided, single submitterVCV000471269
51.
GRCh37:
ChrX:53278029
GRCh38:
ChrX:53248847
IQSEC2R778Q, R573Qnot provided, Mental retardation, X-linked 1Benign/Likely benign
(Nov 16, 2020)
criteria provided, multiple submitters, no conflictsVCV000471268
52.
GRCh37:
ChrX:53279487
GRCh38:
ChrX:53250305
IQSEC2Mental retardation, X-linked 1Likely benign
(Apr 20, 2017)
criteria provided, single submitterVCV000471267
53.
GRCh37:
ChrX:53279705
GRCh38:
ChrX:53250523
IQSEC2E685K, E480KMental retardation, X-linked 1Conflicting interpretations of pathogenicity
(Mar 6, 2020)
criteria provided, conflicting interpretationsVCV000471266
54.
GRCh37:
ChrX:53280108-53280109
GRCh38:
ChrX:53250926-53250927
IQSEC2L346fs, L551fsMental retardation, X-linked 1Pathogenic
(Mar 23, 2017)
criteria provided, single submitterVCV000471265
55.
GRCh37:
ChrX:53283925
GRCh38:
ChrX:53254743
IQSEC2Mental retardation, X-linked 1Likely benign
(Oct 9, 2019)
criteria provided, single submitterVCV000471264
56.
GRCh37:
ChrX:53284122
GRCh38:
ChrX:53254940
IQSEC2Mental retardation, X-linked 1Likely benign
(Jun 26, 2019)
criteria provided, single submitterVCV000471263
57.
GRCh37:
Chr13:37399636
GRCh38:
Chr13:36825499
RFXAPBare lymphocyte syndrome 2Likely benign
(Jul 7, 2017)
criteria provided, single submitterVCV000471262
58.
GRCh37:
Chr13:37393552
GRCh38:
Chr13:36819415
RFXAPH20YBare lymphocyte syndrome 2Uncertain significance
(Oct 24, 2018)
criteria provided, single submitterVCV000471261
59.
GRCh37:
Chr13:37393518
GRCh38:
Chr13:36819381
RFXAPBare lymphocyte syndrome 2Benign
(Nov 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000471260
60.
GRCh37:
Chr13:37393716
GRCh38:
Chr13:36819579
RFXAPBare lymphocyte syndrome 2Likely benign
(Jul 25, 2017)
criteria provided, single submitterVCV000471259
61.
GRCh37:
Chr1:151315613
GRCh38:
Chr1:151343137
RFX5Bare lymphocyte syndrome 2Benign
(Nov 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000471258
62.
GRCh37:
Chr1:151315621
GRCh38:
Chr1:151343145
RFX5G298SBare lymphocyte syndrome 2Uncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV000471257
63.
GRCh37:
Chr1:151316161
GRCh38:
Chr1:151343685
RFX5Bare lymphocyte syndrome 2Benign
(Nov 27, 2020)
criteria provided, single submitterVCV000471256
64.
GRCh37:
Chr1:151316951
GRCh38:
Chr1:151344475
RFX5I139VBare lymphocyte syndrome 2Uncertain significance
(Jul 25, 2017)
criteria provided, single submitterVCV000471255
65.
GRCh37:
Chr1:151315328
GRCh38:
Chr1:151342852
RFX5Bare lymphocyte syndrome 2Likely benign
(Jul 7, 2020)
criteria provided, single submitterVCV000471254
66.
GRCh37:
Chr14:51087407
GRCh38:
Chr14:50620689
ATL1N318IHereditary spastic paraplegia 3AUncertain significance
(May 22, 2019)
criteria provided, single submitterVCV000471253
67.
GRCh37:
Chr14:51087328
GRCh38:
Chr14:50620610
ATL1E292KHereditary spastic paraplegia 3AUncertain significance
(Jul 3, 2017)
criteria provided, single submitterVCV000471252
68.
GRCh37:
Chr14:51062353
GRCh38:
Chr14:50595635
ATL1Hereditary spastic paraplegia 3AUncertain significance
(Oct 10, 2019)
criteria provided, single submitterVCV000471251
69.
GRCh37:
Chr14:51062314
GRCh38:
Chr14:50595596
ATL1R198SHereditary spastic paraplegia 3ALikely pathogenic
(May 1, 2018)
criteria provided, single submitterVCV000471250
70.
GRCh37:
Chr14:51027013
GRCh38:
Chr14:50560295
MAP4K5, ATL1Hereditary spastic paraplegia 3ABenign
(Nov 25, 2020)
criteria provided, single submitterVCV000471249
71.
GRCh37:
Chr14:51054678
GRCh38:
Chr14:50587960
ATL1R55QHereditary spastic paraplegia 3AUncertain significance
(Feb 20, 2017)
criteria provided, single submitterVCV000471248
72.
GRCh37:
Chr14:51095008
GRCh38:
Chr14:50628290
ATL1V460EHereditary spastic paraplegia 3AUncertain significance
(Mar 2, 2017)
criteria provided, single submitterVCV000471247
73.
GRCh37:
Chr14:51094904
GRCh38:
Chr14:50628186
ATL1I425MHereditary spastic paraplegia 3AUncertain significance
(Mar 20, 2019)
criteria provided, single submitterVCV000471246
74.
GRCh37:
Chr14:51094842
GRCh38:
Chr14:50628124
ATL1V405MHereditary spastic paraplegia 3AUncertain significance
(Jul 25, 2017)
criteria provided, single submitterVCV000471245
75.
GRCh37:
Chr14:51089904
GRCh38:
Chr14:50623186
ATL1E353KHereditary spastic paraplegia 3AUncertain significance
(Jul 27, 2017)
criteria provided, single submitterVCV000471244
76.
GRCh37:
Chr2:98349671
GRCh38:
Chr2:97733208
ZAP70ZAP70-Related Severe Combined ImmunodeficiencyLikely benign
(Jun 11, 2019)
criteria provided, single submitterVCV000471243
77.
GRCh37:
Chr2:98341683
GRCh38:
Chr2:97725220
ZAP70ZAP70-Related Severe Combined Immunodeficiency, Combined immunodeficiency due to ZAP70 deficiencyBenign
(Nov 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000471242
78.
GRCh37:
Chr2:98354490
GRCh38:
Chr2:97738027
ZAP70ZAP70-Related Severe Combined Immunodeficiency, Combined immunodeficiency due to ZAP70 deficiencyConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000471241
79.
GRCh37:
Chr2:98351183
GRCh38:
Chr2:97734720
ZAP70Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency, Autoimmune disease, multisystem, infantile-onset, 2,
ZAP70-Related Severe Combined Immunodeficiency
Conflicting interpretations of pathogenicity
(Nov 14, 2020)
criteria provided, conflicting interpretationsVCV000471240
80.
GRCh37:
Chr17:7907061
GRCh38:
Chr17:8003743
GUCY2DK232NCone-rod dystrophy 6, Leber congenital amaurosis 1Uncertain significance
(Mar 16, 2017)
criteria provided, single submitterVCV000471239
81.
GRCh37:
Chr17:7918198
GRCh38:
Chr17:8014880
GUCY2DK866NCone-rod dystrophy 6, Leber congenital amaurosis 1, Leber congenital amaurosis 1,
Cone-rod dystrophy 6
Conflicting interpretations of pathogenicity
(May 28, 2019)
criteria provided, conflicting interpretationsVCV000471238
82.
GRCh37:
Chr17:7909773
GRCh38:
Chr17:8006455
GUCY2DLeber congenital amaurosis 1, Cone-rod dystrophy 6, none provided
Benign
(Dec 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000471237
83.
GRCh37:
Chr17:7917310
GRCh38:
Chr17:8013992
GUCY2DE793fsLeber congenital amaurosis 1Pathogenic
(Jun 4, 2017)
criteria provided, single submitterVCV000471236
84.
GRCh37:
Chr17:71203381
GRCh38:
Chr17:73207242
COG1E931KCOG1 congenital disorder of glycosylationUncertain significance
(Jul 24, 2017)
criteria provided, single submitterVCV000471235
85.
GRCh37:
Chr16:23403783
GRCh38:
Chr16:23392462
COG7COG7 congenital disorder of glycosylationLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000471234
86.
GRCh37:
Chr16:5128844
GRCh38:
Chr16:5078843
ALG1R165QALG1-CDGConflicting interpretations of pathogenicity
(Mar 18, 2019)
criteria provided, conflicting interpretationsVCV000471233
87.
GRCh37:
Chr16:5121992
GRCh38:
Chr16:5071991
ALG1ALG1-CDGUncertain significance
(Jul 11, 2016)
criteria provided, single submitterVCV000471232
88.
GRCh37:
Chr16:5132623
GRCh38:
Chr16:5082622
ALG1V268GALG1-CDGUncertain significance
(Jul 11, 2016)
criteria provided, single submitterVCV000471231
89.
GRCh37:
Chr22:50302989
GRCh38:
Chr22:49909341
ALG12T224Mnot specified, ALG12-congenital disorder of glycosylationUncertain significance
(Sep 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000471230
90.
GRCh37:
Chr22:50307121
GRCh38:
Chr22:49913473
ALG12ALG12-congenital disorder of glycosylationLikely benign
(Feb 29, 2020)
criteria provided, single submitterVCV000471229
91.
GRCh37:
Chr22:50298099
GRCh38:
Chr22:49904451
ALG12G350Rnot specified, ALG12-congenital disorder of glycosylationUncertain significance
(Sep 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000471228
92.
GRCh37:
Chr1:63894437
GRCh38:
Chr1:63428766
ALG6not providedLikely benign
(Jan 2, 2018)
criteria provided, single submitterVCV000471227
93.
GRCh37:
Chr8:133492741
GRCh38:
Chr8:132480494
KCNQ3not providedLikely benign
(Jun 8, 2018)
criteria provided, single submitterVCV000471226
94.
GRCh37:
Chr8:133141509
GRCh38:
Chr8:132129262
KCNQ3Benign familial neonatal seizuresLikely benign
(Jun 28, 2019)
criteria provided, single submitterVCV000471225
95.
GRCh37:
Chr8:133141673
GRCh38:
Chr8:132129426
KCNQ3G819S, G699SBenign familial neonatal seizuresUncertain significance
(Oct 25, 2018)
criteria provided, single submitterVCV000471224
96.
GRCh37:
Chr8:133141830
GRCh38:
Chr8:132129583
KCNQ3Benign familial neonatal seizuresLikely benign
(Jan 19, 2017)
criteria provided, single submitterVCV000471223
97.
GRCh37:
Chr8:133141989
GRCh38:
Chr8:132129742
KCNQ3F593fs, F713fsBenign familial neonatal seizuresUncertain significance
(Sep 15, 2017)
criteria provided, single submitterVCV000471222
98.
GRCh37:
Chr8:133142142
GRCh38:
Chr8:132129895
KCNQ3Benign familial neonatal seizuresLikely benign
(Jul 16, 2020)
criteria provided, single submitterVCV000471220
99.
GRCh37:
Chr8:133146537
GRCh38:
Chr8:132134290
KCNQ3R600K, R480KBenign familial neonatal seizuresUncertain significance
(Sep 20, 2018)
criteria provided, single submitterVCV000471219
100.
GRCh37:
Chr8:133146561
GRCh38:
Chr8:132134314
KCNQ3T592S, T472SBenign familial neonatal seizuresUncertain significance
(Mar 28, 2019)
criteria provided, single submitterVCV000471218
Format
Items per page
Sort by

Download:

Choose Destination
Support Center