| - 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:
- Chr11:76914188
- GRCh38:
- Chr11:77203143
| MYO7A | P1702L, P1713L, P1751L | not provided, Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1,
Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(Nov 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76916548
- GRCh38:
- Chr11:77205503
| MYO7A | T1792M, T1803M, T1841M | not provided, Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1,
Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76867804
- GRCh38:
- Chr11:77156758
| MYO7A | L190W, L179W | not provided, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
Usher syndrome type 1 | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76914157
- GRCh38:
- Chr11:77203112
| MYO7A | K1692E, K1703E, K1741E | Autosomal dominant nonsyndromic hearing loss 11 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890970
- GRCh38:
- Chr11:77179924
| MYO7A | R842C, R853C | not provided, Autosomal dominant nonsyndromic hearing loss 11 | Pathogenic
(Nov 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76893007
- GRCh38:
- Chr11:77181961
| MYO7A | R961Q, R972Q | Autosomal dominant nonsyndromic hearing loss 11, not provided | Conflicting interpretations of pathogenicity
(Oct 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76918340
- GRCh38:
- Chr11:77207295
| MYO7A | E1868K, E1879K, E1917K | not provided, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
Usher syndrome type 1 | Uncertain significance
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76901092
- GRCh38:
- Chr11:77190047
| MYO7A | P1209A, P1220A | Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
Autosomal dominant nonsyndromic hearing loss 11 | Uncertain significance
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76868432
- GRCh38:
- Chr11:77157386
| MYO7A | | not provided, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
Autosomal dominant nonsyndromic hearing loss 11 | Conflicting interpretations of pathogenicity
(Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76858896
- GRCh38:
- Chr11:77147850
| MYO7A | T51M, T62M | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76901098
- GRCh38:
- Chr11:77190053
| MYO7A | G1211S, G1222S | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11,
not provided | Uncertain significance
(Oct 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76874013
- GRCh38:
- Chr11:77162967
| MYO7A | I546V, I557V | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890815
- GRCh38:
- Chr11:77179769
| MYO7A | H790P, H801P | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
| Uncertain significance
(Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76901816
- GRCh38:
- Chr11:77190771
| MYO7A | | not provided, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
Autosomal dominant nonsyndromic hearing loss 11 | Conflicting interpretations of pathogenicity
(Aug 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76908838
- GRCh38:
- Chr11:77197793
| MYO7A | | Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
| Benign
(Jul 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76908791
- GRCh38:
- Chr11:77197746
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Benign
(Jul 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76908732
- GRCh38:
- Chr11:77197687
| MYO7A | | Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
| Benign/Likely benign
(Jul 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76858756
- GRCh38:
- Chr11:77147710
| MYO7A | | Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2,
not provided | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76923017
- GRCh38:
- Chr11:77211972
| MYO7A | | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11,
not provided | Benign/Likely benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76892835
- GRCh38:
- Chr11:77181789
| MYO7A | | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11,
not provided | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76890071
- GRCh38:
- Chr11:77179025
| MYO7A | | not provided, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
Autosomal dominant nonsyndromic hearing loss 11 | Benign/Likely benign
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76901067
- GRCh38:
- Chr11:77190022
| MYO7A | | Usher syndrome type 1, not provided, Autosomal recessive nonsyndromic hearing loss 2,
Autosomal dominant nonsyndromic hearing loss 11 | Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76910745
- GRCh38:
- Chr11:77199700
| MYO7A | | Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1,
not provided | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76903129
- GRCh38:
- Chr11:77192084
| MYO7A | M1309V, M1320V | Hearing impairment, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11,
Usher syndrome type 1 | Uncertain significance
(Jul 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr11:76924063
- 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:
- Chr11:76890986
- GRCh38:
- Chr11:77179940
| MYO7A | R858H, R847H | not provided, Autosomal dominant nonsyndromic hearing loss 11 | Conflicting interpretations of pathogenicity
(Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76893586
- GRCh38:
- Chr11:77182541
| MYO7A | E1065K, E1076K | Autosomal dominant nonsyndromic hearing loss 11 | Uncertain significance
(Jun 8, 2020) | criteria provided, single submitter |
| - 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:
- Chr11:76912661
- 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:
- Chr11:76890174
- 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:
- Chr11:76853874
- GRCh38:
- Chr11:77142828
| MYO7A | | not 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 |
| - GRCh37:
- Chr11:76885869
- GRCh38:
- Chr11:77174823
| MYO7A | R657L, R668L | Autosomal dominant nonsyndromic hearing loss 11 | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76891517
- GRCh38:
- Chr11:77180471
| MYO7A | R884H, R895H | Autosomal dominant nonsyndromic hearing loss 11, not provided | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76892448
- GRCh38:
- Chr11:77181402
| MYO7A | R895H, R906H | not provided, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2,
Autosomal dominant nonsyndromic hearing loss 11 | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76903174
- GRCh38:
- Chr11:77192129
| MYO7A | A1324T, A1335T | not provided, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
Usher syndrome type 1 | Uncertain significance
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76924993
- GRCh38:
- Chr11:77213948
| MYO7A | R2176H, R2136H, R2127H | not provided, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
Usher syndrome type 1 | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76867129
- GRCh38:
- Chr11:77156083
| MYO7A | C154*, C143* | not provided, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
Usher syndrome type 1 | Pathogenic
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76874037
- GRCh38:
- Chr11:77162991
| MYO7A | | not provided, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
Usher syndrome type 1 | Uncertain significance
(May 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76914236
- GRCh38:
- Chr11:77203191
| MYO7A | S1718L, S1729L, S1767L | not provided, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1 | Uncertain significance
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76867953
- GRCh38:
- Chr11:77156907
| MYO7A | F213Y, F202Y | Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1,
not provided | Uncertain significance
(Oct 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76919779
- GRCh38:
- Chr11:77208734
| MYO7A | M1956I, M1945I, M1994I | Autosomal dominant nonsyndromic hearing loss 11, not provided | Uncertain significance
(Mar 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76924051
- GRCh38:
- Chr11:77213006
| MYO7A | G2137R, G2088R, G2097R | Autosomal dominant nonsyndromic hearing loss 11, not provided | Likely pathogenic
(Oct 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76901204
- GRCh38:
- Chr11:77190159
| MYO7A | | Autosomal dominant nonsyndromic hearing loss 11, not provided | Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76892494-76892496
- GRCh38:
- Chr11:77181448-77181450
| MYO7A | K912del, K923del | Autosomal dominant nonsyndromic hearing loss 11 | Likely pathogenic
(Oct 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890880
- GRCh38:
- Chr11:77179834
| MYO7A | R812C, R823C | Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11, not specified,
not provided, Usher syndrome type 1 | Uncertain significance
(Dec 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76924004
- GRCh38:
- Chr11:77212959
| MYO7A | T2081M, T2121M, T2072M | not specified, Autosomal dominant nonsyndromic hearing loss 11, Inborn genetic diseases,
not provided | Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76867061
- GRCh38:
- Chr11:77156015
| MYO7A | P121S, P132S | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76916615
- GRCh38:
- Chr11:77205570
| MYO7A | | Usher syndrome type 1, not provided, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Conflicting interpretations of pathogenicity
(Jan 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76839530
- GRCh38:
- Chr11:77128484
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76912658
- GRCh38:
- Chr11:77201613
| MYO7A | V1624D, V1635D, V1673D | Usher syndrome type 1, not provided, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76909574
- GRCh38:
- Chr11:77198529
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
not provided | Conflicting interpretations of pathogenicity
(Jun 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76894214
- GRCh38:
- Chr11:77183169
| MYO7A | | not provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Conflicting interpretations of pathogenicity
(May 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76891431
- GRCh38:
- Chr11:77180385
| MYO7A | | not specified, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2, not provided | Conflicting interpretations of pathogenicity
(Aug 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76885836
- GRCh38:
- Chr11:77174790
| MYO7A | R646Q, R657Q | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
not provided | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76874038
- GRCh38:
- Chr11:77162992
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76922256
- GRCh38:
- Chr11:77211211
| MYO7A | | Usher syndrome type 1, not provided, Autosomal recessive nonsyndromic hearing loss 2,
Autosomal dominant nonsyndromic hearing loss 11 | Conflicting interpretations of pathogenicity
(Sep 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76914122
- GRCh38:
- Chr11:77203077
| MYO7A | T1729M, T1691M, T1680M | Usher syndrome type 1, not provided, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76910700
- GRCh38:
- Chr11:77199655
| MYO7A | | Usher syndrome type 1, not provided, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76908634
- GRCh38:
- Chr11:77197589
| MYO7A | K1478Q, K1467Q | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76892518
- GRCh38:
- Chr11:77181472
| MYO7A | M918I, M929I | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76885808
- GRCh38:
- Chr11:77174762
| MYO7A | D637N, D648N | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, not provided,
Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76883867
- GRCh38:
- Chr11:77172821
| MYO7A | T613M, T624M | Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, not provided,
Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(May 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76925942
- GRCh38:
- Chr11:77214897
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76924978
- GRCh38:
- Chr11:77213933
| MYO7A | I2122T, I2171T, I2131T | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76872007
- GRCh38:
- Chr11:77160961
| MYO7A | | not provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76868402
- GRCh38:
- Chr11:77157356
| MYO7A | | not provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Conflicting interpretations of pathogenicity
(Jul 21, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76919760
- GRCh38:
- Chr11:77208715
| MYO7A | T1988I, T1939I, T1950I | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76919733
- GRCh38:
- Chr11:77208688
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76868330
- GRCh38:
- Chr11:77157284
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76867730
- GRCh38:
- Chr11:77156684
| MYO7A | | not provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76915191
- GRCh38:
- Chr11:77204146
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, not provided,
Autosomal recessive nonsyndromic hearing loss 2 | Conflicting interpretations of pathogenicity
(Jul 13, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76903299
- GRCh38:
- Chr11:77192254
| MYO7A | K1376N, K1365N | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, not provided,
Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76901853
- GRCh38:
- Chr11:77190808
| MYO7A | A1288S, A1277S | Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76901072
- GRCh38:
- Chr11:77190027
| MYO7A | R1202Q, R1213Q | not provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76893454
- GRCh38:
- Chr11:77182409
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76892486
- GRCh38:
- Chr11:77181440
| MYO7A | A908T, A919T | not provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76926181
- GRCh38:
- Chr11:77215136
| MYO7A | | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76926157
- GRCh38:
- Chr11:77215112
| MYO7A | | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
| Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76925841
- GRCh38:
- Chr11:77214796
| MYO7A | | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76925816
- GRCh38:
- Chr11:77214771
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76925779
- GRCh38:
- Chr11:77214734
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76903222
- GRCh38:
- Chr11:77192177
| MYO7A | F1340L, F1351L | not provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(Sep 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76901728
- GRCh38:
- Chr11:77190683
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76900479
- GRCh38:
- Chr11:77189434
| MYO7A | | not provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Conflicting interpretations of pathogenicity
(Aug 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76893182
- GRCh38:
- Chr11:77182136
| MYO7A | D1019E, D1030E | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890823
- GRCh38:
- Chr11:77179777
| MYO7A | R793W, R804W | not provided, Usher syndrome type 1, Inborn genetic diseases,
Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11 | Uncertain significance
(Feb 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76926133
- GRCh38:
- Chr11:77215088
| MYO7A | | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11,
not provided | Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76926056
- GRCh38:
- Chr11:77215011
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76877221
- GRCh38:
- Chr11:77166175
| MYO7A | | not provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76877130
- GRCh38:
- Chr11:77166084
| MYO7A | | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76925725
- GRCh38:
- Chr11:77214680
| MYO7A | S2211F, S2171F, S2162F | Usher syndrome type 1, not provided, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76919561
- GRCh38:
- Chr11:77208516
| MYO7A | | Usher syndrome type 1, not provided, Autosomal dominant nonsyndromic hearing loss 11,
Autosomal recessive nonsyndromic hearing loss 2 | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76915111
- GRCh38:
- Chr11:77204066
| MYO7A | | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76910773
- GRCh38:
- Chr11:77199728
| MYO7A | E1550K, E1539K, E1588K | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
not provided | Uncertain significance
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76892489
- GRCh38:
- Chr11:77181443
| MYO7A | R909G, R920G | Autosomal dominant nonsyndromic hearing loss 11 | Uncertain significance
(Jan 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76890817
- GRCh38:
- Chr11:77179771
| MYO7A | R791C, R802C | not provided, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
Usher syndrome type 1 | Uncertain significance
(Feb 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76914181
- GRCh38:
- Chr11:77203136
| MYO7A | R1749W, R1700W, R1711W | not provided, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2,
Autosomal dominant nonsyndromic hearing loss 11 | Uncertain significance
(Dec 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:76893006
- GRCh38:
- Chr11:77181960
| MYO7A | R972*, R961* | Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2,
not provided, Usher syndrome type 1 | Pathogenic/Likely pathogenic
(Apr 14, 2022) | criteria provided, multiple submitters, no conflicts |