Related gene-specific medical variations for Gene (Select 4647) - ClinVar

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361662	NM_000260.4(MYO7A):c.1402C>T (p.His468Tyr)	MYO7A (H457Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338135	NM_000260.4(MYO7A):c.19-5700G>A	MYO7A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3244724	NC_000011.9:g.(?_76911660)_(76917177_?)del	MYO7A	Deletion	not provided	GLikely pathogenic
Select item 3244723	NC_000011.9:g.(?_76910586)_(76920278_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244722	NC_000011.9:g.(?_76893618)_(76900789_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244721	NC_000011.9:g.(?_76890171)_(76892077_?)del	MYO7A	Deletion	not provided	GLikely pathogenic
Select item 3244720	NC_000011.9:g.(?_76872031)_(76873712_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244719	NC_000011.9:g.(?_76894093)_(76915294_?)dup	MYO7A	Duplication	not provided	GLikely pathogenic
Select item 3244718	NC_000011.9:g.(?_76868496)_(76871999_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244716	NC_000011.9:g.(?_76861425)_(76868063_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244715	NC_000011.9:g.(?_76924874)_(76927099_?)del	MYO7A	Deletion	not provided	GLikely pathogenic
Select item 3244714	NC_000011.9:g.(?_76853735)_(76868458_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244713	NC_000011.9:g.(?_76883774)_(76892655_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244712	NC_000011.9:g.(?_76901666)_(76901927_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3244711	NC_000011.9:g.(?_76870473)_(76870589_?)del	MYO7A	Deletion	not provided	GPathogenic
Select item 3239682	NM_000260.4(MYO7A):c.5441_5442dup (p.Val1815fs)	MYO7A (V1766fs +2 more)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 2	GPathogenic
Select item 3236335	NM_000260.4(MYO7A):c.5411del (p.Leu1804fs)	MYO7A (L1755fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 2	GPathogenic
Select item 3233328	NM_000260.4(MYO7A):c.3587C>G (p.Ser1196Cys)	MYO7A (S1185C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
Select item 3065409	NM_000260.4(MYO7A):c.1217T>A (p.Leu406Gln)	MYO7A (L395Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GLikely pathogenic
Select item 3065333	NM_000260.4(MYO7A):c.5861T>C (p.Leu1954Pro)	MYO7A (L1905P +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GUncertain significance
Select item 3065063	NM_000260.4(MYO7A):c.5174C>A (p.Pro1725Gln)	MYO7A (P1676Q +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GUncertain significance
Select item 2689516	NM_000260.4(MYO7A):c.1080+5G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2689515	NM_000260.4(MYO7A):c.167T>C (p.Ile56Thr)	MYO7A (I45T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689514	NM_000260.4(MYO7A):c.2051G>A (p.Arg684Gln)	MYO7A (R673Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2674646	NM_000260.4(MYO7A):c.535_536del (p.Ser179fs)	MYO7A (S168fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 2664051	NM_000260.4(MYO7A):c.5131C>G (p.Pro1711Ala)	MYO7A (P1662A +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
Select item 2626863	NM_000260.4(MYO7A):c.3256del (p.Glu1086fs)	MYO7A (E1075fs +1 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2626862	NM_000260.4(MYO7A):c.3260T>C (p.Leu1087Pro)	MYO7A (L1087P +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2503091	NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter)	MYO7A (W1923* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome	GPathogenic
Select item 2503074	NM_000260.4(MYO7A):c.44_51dup (p.Gln18fs)	MYO7A (Q18fs +1 more)	Duplication (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503070	NM_000260.4(MYO7A):c.2991_2992del (p.Glu998fs)	MYO7A (E987fs +1 more)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503062	NM_000260.4(MYO7A):c.3275del (p.Gly1092fs)	MYO7A (G1081fs +1 more)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 2503060	NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg)	MYO7A (Q687R +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic
Select item 2503056	NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro)	MYO7A (A1329P +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic
Select item 2503055	NM_000260.4(MYO7A):c.4017dup (p.Ala1340fs)	MYO7A (A1329fs +1 more)	Duplication (frameshift variant)	Usher syndrome	GPathogenic
Select item 2433978	NM_000260.4(MYO7A):c.1039C>A (p.Leu347Ile)	MYO7A (L336I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433976	NM_000260.4(MYO7A):c.5945-30del	MYO7A	Deletion (intron variant)	not provided	GUncertain significance
Select item 2433975	NM_000260.4(MYO7A):c.4246_4248delinsCAA (p.Tyr1416Gln)	MYO7A (Y1405Q +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2431988	NM_000260.4(MYO7A):c.1355dup (p.Cys453fs)	MYO7A (C442fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2431981	NM_000260.4(MYO7A):c.3503+1G>T	MYO7A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2431973	NM_000260.4(MYO7A):c.5373_5379delinsACCGACCA (p.Val1792fs)	MYO7A (V1743fs +2 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 2431968	NM_000260.4(MYO7A):c.1254_1263del (p.Tyr419fs)	MYO7A (Y408fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1324769	NM_000260.4(MYO7A):c.5565del (p.Gln1855fs)	MYO7A (Q1806fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1319477	NM_000260.4(MYO7A):c.3503+95C>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1184511	NM_000260.4(MYO7A):c.3886del (p.Arg1296fs)	MYO7A (R1285fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 2	GLikely pathogenic
Select item 994696	NM_000260.4(MYO7A):c.3503+10_3503+32delinsA	MYO7A	Indel (intron variant)	not provided	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 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 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 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 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 991563	NM_000260.4(MYO7A):c.3631-6C>A	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1B	GUncertain significance
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 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 991227	NM_000260.4(MYO7A):c.2649G>A (p.Glu883=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1B	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 991215	NM_000260.4(MYO7A):c.1957G>A (p.Val653Met)	MYO7A (V642M +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 990567	NM_000260.4(MYO7A):c.1741G>T (p.Val581Phe)	MYO7A (V570F +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 990563	NM_000260.4(MYO7A):c.1175T>C (p.Leu392Pro)	MYO7A (L381P +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 990562	NM_000260.4(MYO7A):c.1092A>T (p.Pro364=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1B	GUncertain significance
Select item 990561	NM_000260.4(MYO7A):c.968C>G (p.Ala323Gly)	MYO7A (A312G +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 989495	NM_000260.4(MYO7A):c.6431A>G (p.Lys2144Arg)	MYO7A (K2095R +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 989494	NM_000260.4(MYO7A):c.6384CCT[1] (p.Leu2130del)	MYO7A (L2081del +2 more)	Microsatellite (inframe_deletion)	Usher syndrome type 1B	GUncertain significance
Select item 989493	NM_000260.4(MYO7A):c.6381G>A (p.Glu2127=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1B	GUncertain significance
Select item 989492	NM_000260.4(MYO7A):c.6352A>G (p.Lys2118Glu)	MYO7A (K2069E +1 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1B	GUncertain significance
Select item 989491	NM_000260.4(MYO7A):c.6154T>G (p.Tyr2052Asp)	MYO7A (Y2003D +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 989486	NM_000260.4(MYO7A):c.5879A>T (p.Asp1960Val)	MYO7A (D1911V +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 989484	NM_000260.4(MYO7A):c.5771C>A (p.Ala1924Asp)	MYO7A (A1875D +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GUncertain significance
Select item 989483	NM_000260.4(MYO7A):c.5327-5C>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1B	GUncertain significance
Select item 987367	NM_000260.4(MYO7A):c.202_285+34del	MYO7A	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 867157	NM_000260.4(MYO7A):c.850-3C>G	MYO7A	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 867135	NM_000260.4(MYO7A):c.4385C>A (p.Ala1462Asp)	MYO7A (A1451D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 867005	NM_000260.4(MYO7A):c.2302A>T (p.Lys768Ter)	MYO7A (K757* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 867004	NM_000260.4(MYO7A):c.2288_2292delinsCA (p.Asn763_Phe764delinsThr)	MYO7A	Indel (inframe_indel)	Retinal dystrophy	GUncertain significance
Select item 866934	NM_000260.4(MYO7A):c.4853-11C>G	MYO7A	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 866893	NM_000260.4(MYO7A):c.1240A>G (p.Ile414Val)	MYO7A (I414V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866774	NM_000260.4(MYO7A):c.3055C>T (p.Arg1019Trp)	MYO7A (R1019W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866670	NM_000260.4(MYO7A):c.2464G>C (p.Ala822Pro)	MYO7A (A822P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866519	NM_000260.4(MYO7A):c.5892C>G (p.Asp1964Glu)	MYO7A (D1926E +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 865814	NM_000260.4(MYO7A):c.1522T>C (p.Ser508Pro)	MYO7A (S497P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 865812	NM_000260.4(MYO7A):c.1201-5T>C	MYO7A	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 813195	NM_000260.4(MYO7A):c.4852+1G>A	MYO7A	Single nucleotide variant (splice donor variant)	Usher syndrome type 1	GPathogenic
Select item 813194	NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro)	MYO7A (R655P +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 813193	NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg)	MYO7A (L607R +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 643819	NM_000260.4(MYO7A):c.4248C>A (p.Tyr1416Ter)	MYO7A (Y1416* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 374742	NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs)	MYO7A (W47fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 255660	NM_000260.4(MYO7A):c.1343+50T>A	MYO7A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 226435	NP_000251.3(MYO7A):p.Tyr1302fsTer97	MYO7A	Protein only	Usher syndrome type 1	GPathogenic
Select item 143064	NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val)	MYO7A (G556V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 11861	MYO7A, IVS27AS, G-C, -1	MYO7A	Single nucleotide variant	Usher syndrome type 1B	GPathogenic

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Items: 92