ClinVar for MedGen (Select 419358) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2575104	NM_000260.4(MYO7A):c.541C>T (p.Gln181Ter)	MYO7A (Q170* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1802544	NM_000260.4(MYO7A):c.[3784G>A;5086C>T]	MYO7A (V1262M +4 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GUncertain significance
Select item 1253796	NM_000260.4(MYO7A):c.3276C>T (p.Gly1092=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1220461	NM_000260.4(MYO7A):c.5324T>A (p.Ile1775Asn)	MYO7A (I1726N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215878	NM_000260.4(MYO7A):c.2487G>A (p.Val829=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1215568	NM_000260.4(MYO7A):c.-46-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1214480	NM_000260.4(MYO7A):c.2084C>G (p.Ala695Gly)	MYO7A (A684G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213571	NM_000260.4(MYO7A):c.2335C>T (p.Arg779Trp)	MYO7A (R768W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207495	NM_000260.4(MYO7A):c.3109-16_3109-15insTGCGCTCTGGCCTCTGACATGCGCGCTCTGGCCTCTGACATG	MYO7A	Insertion (intron variant)	not provided	GLikely benign
Select item 1202976	NM_000260.4(MYO7A):c.4013G>A (p.Arg1338His)	MYO7A (R1327H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200950	NM_000260.4(MYO7A):c.3277G>A (p.Glu1093Lys)	MYO7A (E1082K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200213	NM_000260.4(MYO7A):c.64G>T (p.Val22Leu)	MYO7A (V11L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197305	NM_000260.4(MYO7A):c.3013G>A (p.Ala1005Thr)	MYO7A (A1005T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196532	NM_000260.4(MYO7A):c.1118G>T (p.Arg373Leu)	MYO7A (R362L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194353	NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp)	MYO7A (R1834W +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1166129	NM_000260.4(MYO7A):c.3924+31_3924+46del	MYO7A	Microsatellite (intron variant)	not provided	GBenign
Select item 1133851	NM_000260.4(MYO7A):c.4713G>A (p.Thr1571=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130844	NM_000260.4(MYO7A):c.345G>A (p.Ser115=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123692	NM_000260.4(MYO7A):c.2688G>A (p.Lys896=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1120132	NM_000260.4(MYO7A):c.4652C>T (p.Ala1551Val)	MYO7A (A1551V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1091117	NM_000260.4(MYO7A):c.5928T>G (p.Ala1976=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1074479	NM_000260.4(MYO7A):c.1003+1G>A	MYO7A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1071057	NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter)	MYO7A (K1761* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +1 more	GPathogenic
Select item 1063564	NM_000260.4(MYO7A):c.3829G>A (p.Ala1277Thr)	MYO7A (A1266T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1062304	NM_000260.4(MYO7A):c.2641C>T (p.Arg881Trp)	MYO7A (R870W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058843	NM_000260.4(MYO7A):c.4019C>T (p.Ala1340Val)	MYO7A (A1329V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058768	NM_000260.4(MYO7A):c.1612T>C (p.Tyr538His)	MYO7A (Y527H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057061	NM_000260.4(MYO7A):c.4676C>T (p.Ser1559Phe)	MYO7A (S1559F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1056529	NM_000260.4(MYO7A):c.293C>T (p.Thr98Met)	MYO7A (T87M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1055786	NM_000260.4(MYO7A):c.1004C>T (p.Ala335Val)	MYO7A (A324V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1053424	NM_000260.4(MYO7A):c.3956T>C (p.Val1319Ala)	MYO7A (V1308A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1053064	NM_000260.4(MYO7A):c.2746A>G (p.Lys916Glu)	MYO7A (K905E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1052723	NM_000260.4(MYO7A):c.5346C>T (p.Gly1782=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1052722	NM_000260.4(MYO7A):c.5782T>C (p.Cys1928Arg)	MYO7A (C1879R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1052193	NM_000260.4(MYO7A):c.4075G>A (p.Glu1359Lys)	MYO7A (E1348K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1052102	NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys)	MYO7A (R800C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 1046775	NM_000260.4(MYO7A):c.4379G>C (p.Ser1460Thr)	MYO7A (S1449T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1045681	NM_000260.4(MYO7A):c.358C>T (p.Arg120Cys)	MYO7A (R120C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1045100	NM_000260.4(MYO7A):c.1069T>C (p.Ser357Pro)	MYO7A (S346P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1044777	NM_000260.4(MYO7A):c.6122T>C (p.Ile2041Thr)	MYO7A (I1992T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1040259	NM_000260.4(MYO7A):c.6091C>T (p.Arg2031Trp)	MYO7A (R2031W +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1040082	NM_000260.4(MYO7A):c.5809C>T (p.Leu1937Phe)	MYO7A (L1888F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037129	NM_000260.4(MYO7A):c.1796T>C (p.Met599Thr)	MYO7A (M599T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036873	NM_000260.4(MYO7A):c.1723G>A (p.Gly575Arg)	MYO7A (G564R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1035553	NM_000260.4(MYO7A):c.5179A>C (p.Lys1727Gln)	MYO7A (K1689Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032274	NM_000260.4(MYO7A):c.6421A>G (p.Ile2141Val)	MYO7A (I2141V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1025532	NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly)	MYO7A (E1159G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1024970	NM_000260.4(MYO7A):c.5006T>C (p.Val1669Ala)	MYO7A (V1620A +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1024687	NM_000260.4(MYO7A):c.3229A>T (p.Thr1077Ser)	MYO7A (T1066S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1024642	NM_000260.4(MYO7A):c.4243A>G (p.Thr1415Ala)	MYO7A (T1404A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1023668	NM_000260.4(MYO7A):c.3285+3G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1023140	NM_000260.4(MYO7A):c.4592T>C (p.Leu1531Pro)	MYO7A (L1531P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1021937	NM_000260.4(MYO7A):c.3193A>G (p.Ser1065Gly)	MYO7A (S1054G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019401	NM_000260.4(MYO7A):c.3292C>G (p.Leu1098Val)	MYO7A (L1087V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019362	NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser)	MYO7A (F1366S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1019001	NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp)	MYO7A (R1647W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1018688	NM_000260.4(MYO7A):c.639C>G (p.Phe213Leu)	MYO7A (F202L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1016632	NM_000260.4(MYO7A):c.5138C>T (p.Thr1713Met)	MYO7A (T1664M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1016427	NM_000260.4(MYO7A):c.6280G>C (p.Glu2094Gln)	MYO7A (E2045Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1015661	NM_000260.4(MYO7A):c.2819C>T (p.Ser940Leu)	MYO7A (S929L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011877	NM_000260.4(MYO7A):c.6003G>A (p.Thr2001=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1010495	NM_000260.4(MYO7A):c.2553C>G (p.Ile851Met)	MYO7A (I840M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1010491	NM_000260.4(MYO7A):c.4327A>C (p.Ile1443Leu)	MYO7A (I1432L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1006752	NM_000260.4(MYO7A):c.2480A>G (p.Tyr827Cys)	MYO7A (Y816C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002616	NM_000260.4(MYO7A):c.341A>G (p.Tyr114Cys)	MYO7A (Y103C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 991576	NM_000260.4(MYO7A):c.5098C>T (p.Leu1700=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1B	GUncertain significance
Select item 991575	NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln)	MYO7A (R1647Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 991574	NM_000260.4(MYO7A):c.5075A>G (p.Gln1692Arg)	MYO7A (Q1643R +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 991573	NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn)	MYO7A (T1625N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 991572	NM_000260.4(MYO7A):c.4953C>G (p.Gly1651=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1B	GUncertain significance
Select item 991571	NM_000260.4(MYO7A):c.4868G>A (p.Gly1623Asp)	MYO7A (G1574D +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 991570	NM_000260.4(MYO7A):c.4791C>A (p.Phe1597Leu)	MYO7A (F1548L +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 991569	NM_000260.4(MYO7A):c.4593G>T (p.Leu1531=)	MYO7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 991568	NM_000260.4(MYO7A):c.4035C>G (p.Phe1345Leu)	MYO7A (F1334L +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 991567	NM_000260.4(MYO7A):c.4032C>T (p.Leu1344=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991566	NM_000260.4(MYO7A):c.3964G>A (p.Ala1322Thr)	MYO7A (A1311T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991565	NM_000260.4(MYO7A):c.3891C>A (p.Phe1297Leu)	MYO7A (F1286L +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 991564	NM_000260.4(MYO7A):c.3855C>T (p.Asn1285=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991563	NM_000260.4(MYO7A):c.3631-6C>A	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1B	GUncertain significance
Select item 991562	NM_000260.4(MYO7A):c.3615C>T (p.Ser1205=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991561	NM_000260.4(MYO7A):c.3503+8C>A	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1B	GUncertain significance
Select item 991560	NM_000260.4(MYO7A):c.3456G>A (p.Glu1152=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991559	NM_000260.4(MYO7A):c.3449A>G (p.Asn1150Ser)	MYO7A (N1139S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991232	NM_000260.4(MYO7A):c.3260T>G (p.Leu1087Arg)	MYO7A (L1076R +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 991231	NM_000260.4(MYO7A):c.3090C>T (p.Asp1030=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991230	NM_000260.4(MYO7A):c.2806C>T (p.Pro936Ser)	MYO7A (P925S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 991229	NM_000260.4(MYO7A):c.2703G>A (p.Leu901=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991228	NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu)	MYO7A (K877E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 991227	NM_000260.4(MYO7A):c.2649G>A (p.Glu883=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1B	GUncertain significance
Select item 991226	NM_000260.4(MYO7A):c.2468G>A (p.Arg823His)	MYO7A (R812H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 991225	NM_000260.4(MYO7A):c.2452A>G (p.Ile818Val)	MYO7A (I807V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991224	NM_000260.4(MYO7A):c.2420A>C (p.His807Pro)	MYO7A (H796P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 991223	NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys)	MYO7A (R780C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +2 more	GConflicting classifications of pathogenicity
Select item 991222	NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro)	MYO7A (L778P +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 991221	NM_000260.4(MYO7A):c.2337G>A (p.Arg779=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991220	NM_000260.4(MYO7A):c.2307C>T (p.Asn769=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991219	NM_000260.4(MYO7A):c.2119C>A (p.Arg707Ser)	MYO7A (R696S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991218	NM_000260.4(MYO7A):c.2057G>C (p.Arg686Pro)	MYO7A (R675P +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 991217	NM_000260.4(MYO7A):c.2034C>T (p.Phe678=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991216	NM_000260.4(MYO7A):c.2001C>T (p.Ile667=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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