| - GRCh37:
- Chr11:76901775
- Chr11:76913387
- GRCh38:
- Chr11:77190730
- Chr11:77202342
| MYO7A, MYO7A | V1262M, V1251M, R1647W, R1658W, R1696W | Usher syndrome type 1 | Uncertain significance
(Nov 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76893636
- GRCh38:
- Chr11:77182591
| MYO7A | | not provided | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76914260
- GRCh38:
- Chr11:77203215
| MYO7A | I1726N, I1737N, I1775N | not provided | Uncertain significance
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890900
- GRCh38:
- Chr11:77179854
| MYO7A | | not provided | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76841633
- GRCh38:
- Chr11:77130587
| MYO7A | | not provided | Uncertain significance
(Aug 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76885950
- GRCh38:
- Chr11:77174904
| MYO7A | A684G, A695G | not provided | Uncertain significance
(Dec 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890143
- GRCh38:
- Chr11:77179097
| MYO7A | R768W, R779W | not provided | Uncertain significance
(May 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76893434-76893435
- GRCh38:
- Chr11:77182389-77182390
| MYO7A | | not provided | Likely benign
(Jul 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76903184
- GRCh38:
- Chr11:77192139
| MYO7A | R1327H, R1338H | not provided | Uncertain significance
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76893637
- GRCh38:
- Chr11:77182592
| MYO7A | E1082K, E1093K | not provided | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76853800
- GRCh38:
- Chr11:77142754
| MYO7A | V11L, V22L | not provided | Uncertain significance
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76893105
- GRCh38:
- Chr11:77182059
| MYO7A | A1005T, A994T | not provided | Uncertain significance
(Mar 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76871246
- GRCh38:
- Chr11:77160200
| MYO7A | R362L, R373L | not provided | Uncertain significance
(Oct 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76917152
- GRCh38:
- Chr11:77206107
| MYO7A | R1834W, R1845W, R1883W | not provided | Pathogenic/Likely pathogenic
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76901925-76901940
- GRCh38:
- Chr11:77190880-77190895
| MYO7A | | not provided | Benign
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76910724
- GRCh38:
- Chr11:77199679
| MYO7A | | not provided | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76867012
- GRCh38:
- Chr11:77155966
| MYO7A | | not provided | Likely benign
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76891521
- GRCh38:
- Chr11:77180475
| MYO7A | | not provided | Likely benign
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76910663
- GRCh38:
- Chr11:77199618
| MYO7A | A1551V | not specified, not provided | Uncertain significance
(Oct 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76919546
- GRCh38:
- Chr11:77208501
| MYO7A | | not provided | Likely benign
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76869477
- GRCh38:
- Chr11:77158431
| MYO7A | | not provided | Pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76915222
- GRCh38:
- Chr11:77204177
| MYO7A | K1761*, K1772*, K1810* | not provided | Pathogenic
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76901820
- GRCh38:
- Chr11:77190775
| MYO7A | A1266T, A1277T | not provided | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76891474
- GRCh38:
- Chr11:77180428
| MYO7A | R870W, R881W | not provided | Uncertain significance
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76903190
- GRCh38:
- Chr11:77192145
| MYO7A | A1329V, A1340V | not provided | Uncertain significance
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76873956
- GRCh38:
- Chr11:77162910
| MYO7A | Y527H, Y538H | not provided | Uncertain significance
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76910687
- GRCh38:
- Chr11:77199642
| MYO7A | S1559F | not provided | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76866960
- GRCh38:
- Chr11:77155914
| MYO7A | T87M, T98M | not provided | Uncertain significance
(Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76870493
- GRCh38:
- Chr11:77159447
| MYO7A | A324V, A335V | not provided | Uncertain significance
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76903127
- GRCh38:
- Chr11:77192082
| MYO7A | V1308A, V1319A | not provided | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76892477
- GRCh38:
- Chr11:77181431
| MYO7A | K905E, K916E | not provided | Uncertain significance
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76915140
- GRCh38:
- Chr11:77204095
| MYO7A | | not provided | Likely benign
(Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76918373
- GRCh38:
- Chr11:77207328
| MYO7A | C1879R, C1890R, C1928R | not provided | Uncertain significance
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76903246
- GRCh38:
- Chr11:77192201
| MYO7A | E1348K, E1359K | not provided | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890844
- GRCh38:
- Chr11:77179798
| MYO7A | R800C, R811C | not 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 |
| - GRCh37:
- Chr11:76908581
- GRCh38:
- Chr11:77197536
| MYO7A | S1449T, S1460T | not provided | Uncertain significance
(Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76867025
- GRCh38:
- Chr11:77155979
| MYO7A | R120C, R109C | not provided | Uncertain significance
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76870558
- GRCh38:
- Chr11:77159512
| MYO7A | S346P, S357P | not provided | Uncertain significance
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76922267
- GRCh38:
- Chr11:77211222
| MYO7A | I1992T, I2003T, I2041T | not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76922236
- GRCh38:
- Chr11:77211191
| MYO7A | R2031W, R1993W, R1982W | not provided | Likely benign
(Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76918400
- GRCh38:
- Chr11:77207355
| MYO7A | L1888F, L1899F, L1937F | not provided | Uncertain significance
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76877207
- GRCh38:
- Chr11:77166161
| MYO7A | M599T, M588T | not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76877134
- GRCh38:
- Chr11:77166088
| MYO7A | G564R, G575R | not provided | Uncertain significance
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76914115
- GRCh38:
- Chr11:77203070
| MYO7A | K1689Q, K1727Q, K1678Q | not provided | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76924063
- GRCh38:
- Chr11:77213018
| MYO7A | I2141V, I2101V, I2092V | not provided, Autosomal dominant nonsyndromic hearing loss 11 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76900394
- GRCh38:
- Chr11:77189349
| MYO7A | E1159G, E1170G | not provided, Usher syndrome type 1 | Likely pathogenic
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76912646
- GRCh38:
- Chr11:77201601
| MYO7A | V1620A, V1631A, V1669A | not provided | Likely benign
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76893589
- GRCh38:
- Chr11:77182544
| MYO7A | T1066S, T1077S | not provided | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76905489
- GRCh38:
- Chr11:77194444
| MYO7A | T1404A, T1415A | not provided | Uncertain significance
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76893648
- GRCh38:
- Chr11:77182603
| MYO7A | | not provided | Uncertain significance
(Mar 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76910603
- GRCh38:
- Chr11:77199558
| MYO7A | L1531P | not provided | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76893553
- GRCh38:
- Chr11:77182508
| MYO7A | S1054G, S1065G | not provided | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76894119
- GRCh38:
- Chr11:77183074
| MYO7A | L1087V, L1098V | not provided | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76903301
- GRCh38:
- Chr11:77192256
| MYO7A | F1366S, F1377S | not provided | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76913387
- GRCh38:
- Chr11:77202342
| MYO7A | R1647W, R1658W, R1696W | not provided, Autosomal dominant nonsyndromic hearing loss 11 | Uncertain significance
(Feb 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76867954
- GRCh38:
- Chr11:77156908
| MYO7A | F202L, F213L | not provided | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76913439
- GRCh38:
- Chr11:77202394
| MYO7A | T1664M, T1675M, T1713M | Inborn genetic diseases, not provided | Uncertain significance
(Sep 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76922908
- GRCh38:
- Chr11:77211863
| MYO7A | E2045Q, E2056Q, E2094Q | not provided | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76892550
- GRCh38:
- Chr11:77181504
| MYO7A | S929L, S940L | not provided | Uncertain significance
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76919800
- GRCh38:
- Chr11:77208755
| MYO7A | | not provided | Likely benign
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890966
- GRCh38:
- Chr11:77179920
| MYO7A | I840M, I851M | not provided | Uncertain significance
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76908529
- GRCh38:
- Chr11:77197484
| MYO7A | I1432L, I1443L | not provided | Uncertain significance
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890893
- GRCh38:
- Chr11:77179847
| MYO7A | Y816C, Y827C | not provided | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76867008
- GRCh38:
- Chr11:77155962
| MYO7A | Y103C, Y114C | not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76913399
- GRCh38:
- Chr11:77202354
| MYO7A | | Usher syndrome type 1B | Uncertain significance
(Apr 17, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76913388
- GRCh38:
- Chr11:77202343
| MYO7A | R1647Q, R1658Q, R1696Q | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76913376
- GRCh38:
- Chr11:77202331
| MYO7A | Q1643R, Q1654R, Q1692R | Usher syndrome type 1B | Uncertain significance
(Apr 17, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76912661
- GRCh38:
- Chr11:77201616
| MYO7A | T1625N, T1636N, T1674N | not provided, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
Autosomal dominant nonsyndromic hearing loss 11 | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76912593
- GRCh38:
- Chr11:77201548
| MYO7A | | Usher syndrome type 1B | Uncertain significance
(Aug 13, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76912508
- GRCh38:
- Chr11:77201463
| MYO7A | G1574D, G1585D, G1623D | Usher syndrome type 1B | Uncertain significance
(Aug 15, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76910802
- GRCh38:
- Chr11:77199757
| MYO7A | F1548L, F1559L, F1597L | Usher syndrome type 1B | Uncertain significance
(Apr 17, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76910604
- GRCh38:
- Chr11:77199559
| MYO7A | | Usher syndrome type 1B | Uncertain significance
(Apr 17, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76903206
- GRCh38:
- Chr11:77192161
| MYO7A | F1334L, F1345L | Usher syndrome type 1B | Uncertain significance
(Apr 16, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76903203
- GRCh38:
- Chr11:77192158
| MYO7A | | not provided | Likely benign
(Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76903135
- GRCh38:
- Chr11:77192090
| MYO7A | A1311T, A1322T | not provided | Uncertain significance
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76901882
- GRCh38:
- Chr11:77190837
| MYO7A | F1286L, F1297L | Usher syndrome type 1B | Uncertain significance
(Apr 16, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76901846
- GRCh38:
- Chr11:77190801
| MYO7A | | not provided | Likely benign
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76901059
- GRCh38:
- Chr11:77190014
| MYO7A | | Usher syndrome type 1B | Uncertain significance
(Apr 16, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76900500
- GRCh38:
- Chr11:77189455
| MYO7A | | not provided | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76895768
- GRCh38:
- Chr11:77184723
| MYO7A | | Usher syndrome type 1B | Uncertain significance
(Aug 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76895713
- GRCh38:
- Chr11:77184668
| MYO7A | | not provided | Likely benign
(Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76895706
- GRCh38:
- Chr11:77184661
| MYO7A | N1139S, N1150S | not provided | Uncertain significance
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76893620
- GRCh38:
- Chr11:77182575
| MYO7A | L1076R, L1087R | Usher syndrome type 1B | Uncertain significance
(Aug 13, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76893182
- GRCh38:
- Chr11:77182136
| MYO7A | | not provided | Likely benign
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76892537
- GRCh38:
- Chr11:77181491
| MYO7A | P925S, P936S | not provided | Likely benign
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76892434
- GRCh38:
- Chr11:77181388
| MYO7A | | not provided | Likely benign
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76891495
- GRCh38:
- Chr11:77180449
| MYO7A | K877E, K888E | Usher syndrome type 1B | Uncertain significance
(Apr 16, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76891482
- GRCh38:
- Chr11:77180436
| MYO7A | | Usher syndrome type 1B | Uncertain significance
(Aug 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76890881
- GRCh38:
- Chr11:77179835
| MYO7A | R812H, R823H | not provided | Likely benign
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890865
- GRCh38:
- Chr11:77179819
| MYO7A | I807V, I818V | not provided | Uncertain significance
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890833
- GRCh38:
- Chr11:77179787
| MYO7A | H796P, H807P | not provided, Inborn genetic diseases | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76890784
- GRCh38:
- Chr11:77179738
| MYO7A | R780C, R791C | not provided, Inborn genetic diseases | Uncertain significance
(Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76890174
- GRCh38:
- Chr11:77179128
| MYO7A | L778P, L789P | not provided, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
Autosomal dominant nonsyndromic hearing loss 11 | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76890145
- GRCh38:
- Chr11:77179099
| MYO7A | | not provided | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890115
- GRCh38:
- Chr11:77179069
| MYO7A | | not provided | Likely benign
(Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76886442
- GRCh38:
- Chr11:77175396
| MYO7A | R696S, R707S | not provided | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76885923
- GRCh38:
- Chr11:77174877
| MYO7A | R675P, R686P | Usher syndrome type 1B | Uncertain significance
(Aug 17, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76885900
- GRCh38:
- Chr11:77174854
| MYO7A | | not provided | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76885867
- GRCh38:
- Chr11:77174821
| MYO7A | | Usher syndrome type 1B | Uncertain significance
(Apr 16, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:76885823
- GRCh38:
- Chr11:77174777
| MYO7A | V642M, V653M | Usher syndrome type 1B | Uncertain significance
(Apr 16, 2020) | no assertion criteria provided |