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Links from MedGen

Items: 1 to 100 of 560

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:76867776
GRCh38:
Chr11:77156730
MYO7AQ170*, Q181*Usher syndrome type 1BPathogenic
(Jan 15, 2018)
no assertion criteria provided
2.
GRCh37:
Chr11:76901775
Chr11:76913387
GRCh38:
Chr11:77190730
Chr11:77202342
MYO7A, MYO7AV1262M, V1251M, R1647W, R1658W, R1696WUsher syndrome type 1Uncertain significance
(Nov 29, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr11:76893636
GRCh38:
Chr11:77182591
MYO7Anot providedUncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr11:76914260
GRCh38:
Chr11:77203215
MYO7AI1726N, I1737N, I1775Nnot providedUncertain significance
(Dec 31, 2019)
criteria provided, single submitter
5.
GRCh37:
Chr11:76890900
GRCh38:
Chr11:77179854
MYO7Anot providedConflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr11:76841633
GRCh38:
Chr11:77130587
MYO7Anot providedUncertain significance
(Aug 17, 2020)
criteria provided, single submitter
7.
GRCh37:
Chr11:76885950
GRCh38:
Chr11:77174904
MYO7AA684G, A695Gnot providedUncertain significance
(Dec 6, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr11:76890143
GRCh38:
Chr11:77179097
MYO7AR768W, R779Wnot providedUncertain significance
(May 1, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr11:76893434-76893435
GRCh38:
Chr11:77182389-77182390
MYO7Anot providedLikely benign
(Jul 15, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr11:76903184
GRCh38:
Chr11:77192139
MYO7AR1327H, R1338Hnot providedUncertain significance
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:76893637
GRCh38:
Chr11:77182592
MYO7AE1082K, E1093Knot providedUncertain significance
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:76853800
GRCh38:
Chr11:77142754
MYO7AV11L, V22Lnot providedUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:76893105
GRCh38:
Chr11:77182059
MYO7AA1005T, A994Tnot providedUncertain significance
(Mar 31, 2020)
criteria provided, single submitter
14.
GRCh37:
Chr11:76871246
GRCh38:
Chr11:77160200
MYO7AR362L, R373Lnot providedUncertain significance
(Oct 24, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr11:76917152
GRCh38:
Chr11:77206107
MYO7AR1834W, R1845W, R1883Wnot providedPathogenic/Likely pathogenic
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr11:76901925-76901940
GRCh38:
Chr11:77190880-77190895
MYO7Anot providedBenign
(Oct 21, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:76910724
GRCh38:
Chr11:77199679
MYO7Anot providedLikely benign
(Sep 13, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:76867012
GRCh38:
Chr11:77155966
MYO7Anot providedLikely benign
(Mar 24, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:76891521
GRCh38:
Chr11:77180475
MYO7Anot providedLikely benign
(Aug 20, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:76910663
GRCh38:
Chr11:77199618
MYO7AA1551Vnot specified, not providedUncertain significance
(Oct 28, 2021)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr11:76919546
GRCh38:
Chr11:77208501
MYO7Anot providedLikely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:76869477
GRCh38:
Chr11:77158431
MYO7Anot providedPathogenic
(Sep 1, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr11:76915222
GRCh38:
Chr11:77204177
MYO7AK1761*, K1772*, K1810*not providedPathogenic
(May 8, 2023)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:76901820
GRCh38:
Chr11:77190775
MYO7AA1266T, A1277Tnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr11:76891474
GRCh38:
Chr11:77180428
MYO7AR870W, R881Wnot providedUncertain significance
(Sep 2, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:76903190
GRCh38:
Chr11:77192145
MYO7AA1329V, A1340Vnot providedUncertain significance
(Aug 25, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr11:76873956
GRCh38:
Chr11:77162910
MYO7AY527H, Y538Hnot providedUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:76910687
GRCh38:
Chr11:77199642
MYO7AS1559Fnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr11:76866960
GRCh38:
Chr11:77155914
MYO7AT87M, T98Mnot providedUncertain significance
(Sep 8, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:76870493
GRCh38:
Chr11:77159447
MYO7AA324V, A335Vnot providedUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:76903127
GRCh38:
Chr11:77192082
MYO7AV1308A, V1319Anot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr11:76892477
GRCh38:
Chr11:77181431
MYO7AK905E, K916Enot providedUncertain significance
(Feb 8, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:76915140
GRCh38:
Chr11:77204095
MYO7Anot providedLikely benign
(Oct 14, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:76918373
GRCh38:
Chr11:77207328
MYO7AC1879R, C1890R, C1928Rnot providedUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:76903246
GRCh38:
Chr11:77192201
MYO7AE1348K, E1359Knot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr11:76890844
GRCh38:
Chr11:77179798
MYO7AR800C, R811Cnot provided, Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1,
Autosomal recessive nonsyndromic hearing loss 2
Uncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr11:76908581
GRCh38:
Chr11:77197536
MYO7AS1449T, S1460Tnot providedUncertain significance
(Jan 6, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:76867025
GRCh38:
Chr11:77155979
MYO7AR120C, R109Cnot providedUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr11:76870558
GRCh38:
Chr11:77159512
MYO7AS346P, S357Pnot providedUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:76922267
GRCh38:
Chr11:77211222
MYO7AI1992T, I2003T, I2041Tnot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:76922236
GRCh38:
Chr11:77211191
MYO7AR2031W, R1993W, R1982Wnot providedLikely benign
(Sep 8, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:76918400
GRCh38:
Chr11:77207355
MYO7AL1888F, L1899F, L1937Fnot providedUncertain significance
(Oct 31, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:76877207
GRCh38:
Chr11:77166161
MYO7AM599T, M588Tnot providedUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:76877134
GRCh38:
Chr11:77166088
MYO7AG564R, G575Rnot providedUncertain significance
(Sep 20, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:76914115
GRCh38:
Chr11:77203070
MYO7AK1689Q, K1727Q, K1678Qnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr11:76924063
GRCh38:
Chr11:77213018
MYO7AI2141V, I2101V, I2092VAutosomal dominant nonsyndromic hearing loss 11, not providedConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr11:76900394
GRCh38:
Chr11:77189349
MYO7AE1159G, E1170GUsher syndrome type 1, MYO7A-related condition, not provided
Conflicting interpretations of pathogenicity
(Feb 28, 2023)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr11:76912646
GRCh38:
Chr11:77201601
MYO7AV1620A, V1631A, V1669Anot providedLikely benign
(Oct 25, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr11:76893589
GRCh38:
Chr11:77182544
MYO7AT1066S, T1077Snot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr11:76905489
GRCh38:
Chr11:77194444
MYO7AT1404A, T1415Anot providedUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr11:76893648
GRCh38:
Chr11:77182603
MYO7Anot providedUncertain significance
(Mar 5, 2020)
criteria provided, single submitter
52.
GRCh37:
Chr11:76910603
GRCh38:
Chr11:77199558
MYO7AL1531Pnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr11:76893553
GRCh38:
Chr11:77182508
MYO7AS1054G, S1065Gnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr11:76894119
GRCh38:
Chr11:77183074
MYO7AL1087V, L1098Vnot providedUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr11:76903301
GRCh38:
Chr11:77192256
MYO7AF1366S, F1377Snot providedConflicting interpretations of pathogenicity
(Oct 5, 2022)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr11:76913387
GRCh38:
Chr11:77202342
MYO7AR1647W, R1658W, R1696Wnot provided, Autosomal dominant nonsyndromic hearing loss 11Uncertain significance
(Feb 24, 2023)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:76867954
GRCh38:
Chr11:77156908
MYO7AF202L, F213Lnot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr11:76913439
GRCh38:
Chr11:77202394
MYO7AT1664M, T1675M, T1713MInborn genetic diseases, not providedUncertain significance
(Sep 14, 2021)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:76922908
GRCh38:
Chr11:77211863
MYO7AE2045Q, E2056Q, E2094Qnot providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:76892550
GRCh38:
Chr11:77181504
MYO7AS929L, S940Lnot providedUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr11:76919800
GRCh38:
Chr11:77208755
MYO7Anot providedLikely benign
(Oct 27, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:76890966
GRCh38:
Chr11:77179920
MYO7AI840M, I851Mnot providedUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr11:76908529
GRCh38:
Chr11:77197484
MYO7AI1432L, I1443Lnot providedUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr11:76890893
GRCh38:
Chr11:77179847
MYO7AY816C, Y827Cnot providedUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr11:76867008
GRCh38:
Chr11:77155962
MYO7AY103C, Y114Cnot providedUncertain significance
(Dec 7, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr11:76913399
GRCh38:
Chr11:77202354
MYO7AUsher syndrome type 1BUncertain significance
(Apr 17, 2020)
no assertion criteria provided
67.
GRCh37:
Chr11:76913388
GRCh38:
Chr11:77202343
MYO7AR1647Q, R1658Q, R1696QInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Sep 13, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr11:76913376
GRCh38:
Chr11:77202331
MYO7AQ1643R, Q1654R, Q1692RUsher syndrome type 1BUncertain significance
(Apr 17, 2020)
no assertion criteria provided
69.
GRCh37:
Chr11:76912661
GRCh38:
Chr11:77201616
MYO7AT1625N, T1636N, T1674Nnot provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2
Uncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr11:76912593
GRCh38:
Chr11:77201548
MYO7AUsher syndrome type 1BUncertain significance
(Aug 13, 2020)
no assertion criteria provided
71.
GRCh37:
Chr11:76912508
GRCh38:
Chr11:77201463
MYO7AG1574D, G1585D, G1623DUsher syndrome type 1BUncertain significance
(Aug 15, 2020)
no assertion criteria provided
72.
GRCh37:
Chr11:76910802
GRCh38:
Chr11:77199757
MYO7AF1548L, F1559L, F1597LUsher syndrome type 1BUncertain significance
(Apr 17, 2020)
no assertion criteria provided
73.
GRCh37:
Chr11:76910604
GRCh38:
Chr11:77199559
MYO7AUsher syndrome type 1BUncertain significance
(Apr 17, 2020)
no assertion criteria provided
74.
GRCh37:
Chr11:76903206
GRCh38:
Chr11:77192161
MYO7AF1334L, F1345LUsher syndrome type 1BUncertain significance
(Apr 16, 2020)
no assertion criteria provided
75.
GRCh37:
Chr11:76903203
GRCh38:
Chr11:77192158
MYO7Anot providedLikely benign
(Oct 14, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr11:76903135
GRCh38:
Chr11:77192090
MYO7AA1311T, A1322Tnot providedUncertain significance
(Dec 24, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr11:76901882
GRCh38:
Chr11:77190837
MYO7AF1286L, F1297LUsher syndrome type 1BUncertain significance
(Apr 16, 2020)
no assertion criteria provided
78.
GRCh37:
Chr11:76901846
GRCh38:
Chr11:77190801
MYO7Anot providedLikely benign
(Aug 30, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr11:76901059
GRCh38:
Chr11:77190014
MYO7AUsher syndrome type 1BUncertain significance
(Apr 16, 2020)
no assertion criteria provided
80.
GRCh37:
Chr11:76900500
GRCh38:
Chr11:77189455
MYO7Anot providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:76895768
GRCh38:
Chr11:77184723
MYO7AUsher syndrome type 1BUncertain significance
(Aug 14, 2020)
no assertion criteria provided
82.
GRCh37:
Chr11:76895713
GRCh38:
Chr11:77184668
MYO7Anot providedLikely benign
(Aug 1, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr11:76895706
GRCh38:
Chr11:77184661
MYO7AN1139S, N1150Snot providedUncertain significance
(Sep 3, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr11:76893620
GRCh38:
Chr11:77182575
MYO7AL1076R, L1087RUsher syndrome type 1BUncertain significance
(Aug 13, 2020)
no assertion criteria provided
85.
GRCh37:
Chr11:76893182
GRCh38:
Chr11:77182136
MYO7Anot providedLikely benign
(Oct 23, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:76892537
GRCh38:
Chr11:77181491
MYO7AP925S, P936Snot providedLikely benign
(Sep 19, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr11:76892434
GRCh38:
Chr11:77181388
MYO7Anot providedLikely benign
(May 17, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr11:76891495
GRCh38:
Chr11:77180449
MYO7AK877E, K888Enot specifiedUncertain significance
(Aug 10, 2023)
criteria provided, single submitter
89.
GRCh37:
Chr11:76891482
GRCh38:
Chr11:77180436
MYO7AUsher syndrome type 1BUncertain significance
(Aug 14, 2020)
no assertion criteria provided
90.
GRCh37:
Chr11:76890881
GRCh38:
Chr11:77179835
MYO7AR812H, R823Hnot providedConflicting interpretations of pathogenicity
(Feb 6, 2023)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr11:76890865
GRCh38:
Chr11:77179819
MYO7AI807V, I818Vnot providedUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr11:76890833
GRCh38:
Chr11:77179787
MYO7AH796P, H807PInborn genetic diseases, not providedUncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr11:76890784
GRCh38:
Chr11:77179738
MYO7AR780C, R791CInborn genetic diseases, not providedUncertain significance
(Feb 27, 2023)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr11:76890174
GRCh38:
Chr11:77179128
MYO7AL778P, L789PUsher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
not provided
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr11:76890145
GRCh38:
Chr11:77179099
MYO7Anot providedLikely benign
(Oct 24, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:76890115
GRCh38:
Chr11:77179069
MYO7Anot providedLikely benign
(Oct 1, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr11:76886442
GRCh38:
Chr11:77175396
MYO7AR696S, R707Snot providedUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr11:76885923
GRCh38:
Chr11:77174877
MYO7AR675P, R686PUsher syndrome type 1BUncertain significance
(Aug 17, 2020)
no assertion criteria provided
99.
GRCh37:
Chr11:76885900
GRCh38:
Chr11:77174854
MYO7Anot providedLikely benign
(Oct 7, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr11:76885867
GRCh38:
Chr11:77174821
MYO7AUsher syndrome type 1BUncertain significance
(Apr 16, 2020)
no assertion criteria provided
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