ClinVar for MedGen (Select 325485) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24456471.	NM_000260.4(MYO7A):c.5552T>C (p.Leu1851Pro) GRCh37: Chr11:76916578 GRCh38: Chr11:77205533	MYO7A	L1813P, L1802P, L1851P	Autosomal recessive nonsyndromic hearing loss 2	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 17995502.	NM_000260.4(MYO7A):c.4528G>A (p.Glu1510Lys) GRCh37: Chr11:76909626 GRCh38: Chr11:77198581	MYO7A	E1499K, E1510K	Autosomal recessive nonsyndromic hearing loss 2	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 17995493.	NM_000260.4(MYO7A):c.3612_3615del (p.Ser1205fs) GRCh37: Chr11:76900495-76900498 GRCh38: Chr11:77189450-77189453	MYO7A	S1194fs, S1205fs	Autosomal recessive nonsyndromic hearing loss 2	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 17995484.	NM_000260.4(MYO7A):c.3893G>A (p.Gly1298Glu) GRCh37: Chr11:76901884 GRCh38: Chr11:77190839	MYO7A	G1298E, G1287E	Autosomal recessive nonsyndromic hearing loss 2	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 16754695.	NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn) GRCh37: Chr11:76873367 GRCh38: Chr11:77162321	MYO7A	K504N, K515N	not provided, Autosomal recessive nonsyndromic hearing loss 2	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 14434126.	NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu) 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
Select item 13877947.	NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met) GRCh37: Chr11:76916548 GRCh38: Chr11:77205503	MYO7A	T1792M, T1803M, T1841M	not provided, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2, not specified	Uncertain significance (Apr 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13751778.	NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp) 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
Select item 13341239.	NM_000260.4(MYO7A):c.4297C>T (p.Gln1433Ter) GRCh37: Chr11:76905543 GRCh38: Chr11:77194498	MYO7A	Q1422, Q1433	Autosomal recessive nonsyndromic hearing loss 2	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 133321510.	NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys) GRCh37: Chr11:76891516 GRCh38: Chr11:77180470	MYO7A	R884C, R895C	not provided, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 129708211.	NM_000260.4(MYO7A):c.6325A>C (p.Thr2109Pro) GRCh37: Chr11:76922953 GRCh38: Chr11:77211908	MYO7A	T2060P, T2071P, T2109P	Autosomal recessive nonsyndromic hearing loss 2	Uncertain significance	no assertion criteria provided
Select item 128461612.	NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys) 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
Select item 127577013.	NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs) GRCh37: Chr11:76877149-76877156 GRCh38: Chr11:77166103-77166110	MYO7A	V570fs, V581fs	Autosomal recessive nonsyndromic hearing loss 2, not provided	Pathogenic/Likely pathogenic (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121043814.	NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys) GRCh37: Chr11:76892528 GRCh38: Chr11:77181482	MYO7A	R922C, R933C	Autosomal recessive nonsyndromic hearing loss 2, not provided, Usher syndrome type 1	Uncertain significance (Apr 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121043715.	NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile) GRCh37: Chr11:76924930 GRCh38: Chr11:77213885	MYO7A	T2106I, T2115I, T2155I	Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 121043616.	NM_000260.4(MYO7A):c.4711A>T (p.Thr1571Ser) GRCh37: Chr11:76910722 GRCh38: Chr11:77199677	MYO7A	T1522S, T1533S, T1571S	Autosomal recessive nonsyndromic hearing loss 2	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 121043517.	NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala) 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
Select item 120964518.	NM_000260.4(MYO7A):c.843G>A (p.Leu281=) 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
Select item 120964419.	NM_000260.4(MYO7A):c.185C>T (p.Thr62Met) 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
Select item 120962920.	NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser) 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
Select item 120958621.	NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val) 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
Select item 120958522.	NM_000260.4(MYO7A):c.2402A>C (p.His801Pro) 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
Select item 120958423.	NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=) 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
Select item 118562624.	NM_000260.4(MYO7A):c.1091dup (p.Asp365fs) GRCh37: Chr11:76871213-76871214 GRCh38: Chr11:77160167-77160168	MYO7A	D354fs, D365fs	not provided	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 118560725.	NM_000260.4(MYO7A):c.6491del (p.Asn2164fs) GRCh37: Chr11:76924956 GRCh38: Chr11:77213911	MYO7A	N2115fs, N2124fs, N2164fs	Autosomal recessive nonsyndromic hearing loss 2	Likely pathogenic	no assertion criteria provided
Select item 118514526.	NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His) GRCh37: Chr11:76903309 GRCh38: Chr11:77192264	MYO7A	Y1369H, Y1380H	Autosomal recessive nonsyndromic hearing loss 2	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118514427.	NM_000260.4(MYO7A):c.1946G>A (p.Arg649Gln) GRCh37: Chr11:76885812 GRCh38: Chr11:77174766	MYO7A	R638Q, R649Q	Autosomal recessive nonsyndromic hearing loss 2	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118513028.	NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys) GRCh37: Chr11:76874023 GRCh38: Chr11:77162977	MYO7A	Y549C, Y560C	Usher syndrome type 1	Likely pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 118512229.	NM_000260.4(MYO7A):c.6545G>C (p.Cys2182Ser) GRCh37: Chr11:76925011 GRCh38: Chr11:77213966	MYO7A	C2133S, C2142S, C2182S	Autosomal recessive nonsyndromic hearing loss 2	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118512130.	NM_000260.4(MYO7A):c.5043G>A (p.Val1681=) GRCh37: Chr11:76912683 GRCh38: Chr11:77201638	MYO7A		Autosomal recessive nonsyndromic hearing loss 2	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118508431.	NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter) GRCh37: Chr11:76912612 GRCh38: Chr11:77201567	MYO7A	Q1609, Q1620, Q1658*	not provided, Usher syndrome type 1	Pathogenic/Likely pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118451132.	NM_000260.4(MYO7A):c.3886del (p.Arg1296fs) GRCh37: Chr11:76901876 GRCh38: Chr11:77190831	MYO7A	R1285fs, R1296fs	Autosomal recessive nonsyndromic hearing loss 2	Likely pathogenic	no assertion criteria provided
Select item 117747733.	NM_000260.4(MYO7A):c.4441+195G>A 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
Select item 117747634.	NM_000260.4(MYO7A):c.4441+148A>G 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
Select item 117747535.	NM_000260.4(MYO7A):c.4441+89T>C 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
Select item 117747436.	NM_000260.4(MYO7A):c.133-88C>T 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
Select item 117747237.	NM_000260.4(MYO7A):c.6354+35G>A 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
Select item 117746438.	NM_000260.4(MYO7A):c.2905-162T>G 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
Select item 116597239.	NM_000260.4(MYO7A):c.2283-20C>T 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
Select item 114738640.	NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=) 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
Select item 110957841.	NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=) 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
Select item 107612242.	NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter) GRCh37: Chr11:76922271 GRCh38: Chr11:77211226	MYO7A	Y1993, Y2004, Y2042*	not provided	Pathogenic (Oct 15, 2020)	criteria provided, single submitter
Select item 106506043.	NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val) 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
Select item 105210244.	NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys) 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
Select item 103227345.	NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs) GRCh37: Chr11:76901793-76901796 GRCh38: Chr11:77190748-77190751	MYO7A	T1257fs, T1268fs	Autosomal recessive nonsyndromic hearing loss 2	Likely pathogenic (Mar 21, 2018)	criteria provided, single submitter
Select item 102864646.	NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His) GRCh37: Chr11:76913424 GRCh38: Chr11:77202379	MYO7A	R1659H, R1670H, R1708H	not provided, Autosomal recessive nonsyndromic hearing loss 2	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102864447.	NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr) GRCh37: Chr11:76885949 GRCh38: Chr11:77174903	MYO7A	A684T, A695T	Autosomal recessive nonsyndromic hearing loss 2, not provided	Uncertain significance (May 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102864348.	NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln) GRCh37: Chr11:76883843 GRCh38: Chr11:77172797	MYO7A	R605Q, R616Q	not provided, Autosomal recessive nonsyndromic hearing loss 2	Conflicting interpretations of pathogenicity (Aug 13, 2022)	criteria provided, conflicting interpretations
Select item 101677149.	NM_000260.4(MYO7A):c.1165G>A (p.Glu389Lys) GRCh37: Chr11:76871293 GRCh38: Chr11:77160247	MYO7A	E378K, E389K	Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, not provided	Uncertain significance (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99157350.	NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn) 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
Select item 99122251.	NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro) 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
Select item 99055852.	NM_000260.4(MYO7A):c.132+6T>C 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
Select item 96667953.	NM_000260.4(MYO7A):c.2717G>A (p.Arg906His) 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
Select item 96513854.	NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) GRCh37: Chr11:76912591 GRCh38: Chr11:77201546	MYO7A	G1602S, G1651S, G1613S	not provided, Autosomal recessive nonsyndromic hearing loss 2	Pathogenic (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96278955.	NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr) 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
Select item 95933056.	NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His) 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
Select item 95900957.	NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter) 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
Select item 95777558.	NM_000260.4(MYO7A):c.1690+3A>G 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
Select item 95213859.	NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu) 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
Select item 94113560.	NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr) 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
Select item 93000761.	NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys) 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
Select item 88415862.	NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser) 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
Select item 88410463.	NM_000260.4(MYO7A):c.5589C>T (p.His1863=) 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
Select item 88403964.	NM_000260.4(MYO7A):c.-52C>G 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
Select item 88397365.	NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp) 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
Select item 88382666.	NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=) 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
Select item 88366967.	NM_000260.4(MYO7A):c.3375+12C>T 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
Select item 88358268.	NM_000260.4(MYO7A):c.2598C>T (p.Arg866=) 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
Select item 88348169.	NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln) 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
Select item 88343070.	NM_000260.4(MYO7A):c.1690+4C>T 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
Select item 88334071.	NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=) 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
Select item 88323672.	NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met) 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
Select item 88312073.	NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=) 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
Select item 88304674.	NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln) 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
Select item 88283575.	NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile) 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
Select item 88270876.	NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn) 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
Select item 88270777.	NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met) 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
Select item 88265578.	NM_000260.4(MYO7A):c.*201T>C 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
Select item 88260779.	NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr) 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
Select item 88260680.	NM_000260.4(MYO7A):c.1201-12A>G 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
Select item 88255981.	NM_000260.4(MYO7A):c.813C>T (p.Gly271=) 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
Select item 88229082.	NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile) 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
Select item 88228983.	NM_000260.4(MYO7A):c.5945-9G>C 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
Select item 88228884.	NM_000260.4(MYO7A):c.741G>A (p.Leu247=) 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
Select item 88225185.	NM_000260.4(MYO7A):c.495G>A (p.Thr165=) 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
Select item 88214686.	NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=) 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
Select item 88187287.	NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn) 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
Select item 88182588.	NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser) 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
Select item 88177189.	NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln) 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
Select item 88172490.	NM_000260.4(MYO7A):c.3109-15C>T 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
Select item 88168391.	NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr) 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
Select item 88154792.	NM_000260.4(MYO7A):c.*440G>A 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
Select item 88154693.	NM_000260.4(MYO7A):c.*416C>T 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
Select item 88149994.	NM_000260.4(MYO7A):c.*100C>T 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
Select item 88149895.	NM_000260.4(MYO7A):c.*75C>T 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
Select item 88149796.	NM_000260.4(MYO7A):c.*38G>A 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
Select item 88143797.	NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu) 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
Select item 88138098.	NM_000260.4(MYO7A):c.3751-14T>C 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
Select item 88132899.	NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=) 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
Select item 881262100.	NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu) 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

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