ClinVar for MedGen (Select 325485) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234945	NM_000260.4(MYO7A):c.1267_1270del (p.Ser423fs)	MYO7A (S412fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 2	GLikely pathogenic
Select item 2445647	NM_000260.4(MYO7A):c.5552T>C (p.Leu1851Pro)	MYO7A (L1813P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2	GLikely pathogenic
Select item 1799550	NM_000260.4(MYO7A):c.4528G>A (p.Glu1510Lys)	MYO7A (E1499K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2	GLikely pathogenic
Select item 1799549	NM_000260.4(MYO7A):c.3612_3615del (p.Ser1205fs)	MYO7A (S1194fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 2	GLikely pathogenic
Select item 1799548	NM_000260.4(MYO7A):c.3893G>A (p.Gly1298Glu)	MYO7A (G1298E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +1 more	GConflicting classifications of pathogenicity
Select item 1675469	NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn)	MYO7A (K504N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +1 more	GConflicting classifications of pathogenicity
Select item 1443412	NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu)	MYO7A (P1702L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 1387794	NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met)	MYO7A (T1792M +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GUncertain significance
Select item 1375177	NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp)	MYO7A (L190W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 1334123	NM_000260.4(MYO7A):c.4297C>T (p.Gln1433Ter)	MYO7A (Q1422* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 2	GPathogenic
Select item 1333215	NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys)	MYO7A (R884C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1297082	NM_000260.4(MYO7A):c.6325A>C (p.Thr2109Pro)	MYO7A (T2060P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2	GUncertain significance
Select item 1284616	NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys)	MYO7A (E1868K +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 1275770	NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs)	MYO7A (V570fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1210438	NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys)	MYO7A (R922C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1210437	NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile)	MYO7A (T2106I +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 1210436	NM_000260.4(MYO7A):c.4711A>T (p.Thr1571Ser)	MYO7A (T1522S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2	GUncertain significance
Select item 1210435	NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala)	MYO7A (P1209A +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 1209645	NM_000260.4(MYO7A):c.843G>A (p.Leu281=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1209644	NM_000260.4(MYO7A):c.185C>T (p.Thr62Met)	MYO7A (T51M +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 1209629	NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser)	MYO7A (G1211S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1209586	NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val)	MYO7A (I546V +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 1209585	NM_000260.4(MYO7A):c.2402A>C (p.His801Pro)	MYO7A (H790P +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 1209584	NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1185626	NM_000260.4(MYO7A):c.1091dup (p.Asp365fs)	MYO7A (D354fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1185607	NM_000260.4(MYO7A):c.6491del (p.Asn2164fs)	MYO7A (N2115fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 2	GLikely pathogenic
Select item 1185145	NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His)	MYO7A (Y1369H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic
Select item 1185144	NM_000260.4(MYO7A):c.1946G>A (p.Arg649Gln)	MYO7A (R638Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185130	NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys)	MYO7A (Y549C +1 more)	Single nucleotide variant (missense variant)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1185122	NM_000260.4(MYO7A):c.6545G>C (p.Cys2182Ser)	MYO7A (C2133S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2	GUncertain significance
Select item 1185121	NM_000260.4(MYO7A):c.5043G>A (p.Val1681=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 2	GUncertain significance
Select item 1185084	NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter)	MYO7A (Q1609* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +1 more	GPathogenic/Likely pathogenic
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 1177477	NM_000260.4(MYO7A):c.4441+195G>A	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +2 more	GBenign
Select item 1177476	NM_000260.4(MYO7A):c.4441+148A>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +2 more	GBenign
Select item 1177475	NM_000260.4(MYO7A):c.4441+89T>C	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +2 more	GBenign/Likely benign
Select item 1177474	NM_000260.4(MYO7A):c.133-88C>T	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1177472	NM_000260.4(MYO7A):c.6354+35G>A	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1177464	NM_000260.4(MYO7A):c.2905-162T>G	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1165972	NM_000260.4(MYO7A):c.2283-20C>T	MYO7A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GBenign/Likely benign
Select item 1147386	NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1109578	NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1076122	NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter)	MYO7A (Y1993* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1065060	NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val)	MYO7A (M1309V +1 more)	Single nucleotide variant (missense variant)	Hearing impairment +3 more	GUncertain significance
Select item 1052102	NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys)	MYO7A (R800C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1032273	NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs)	MYO7A (T1257fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 2	GLikely pathogenic
Select item 1028646	NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His)	MYO7A (R1659H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028644	NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr)	MYO7A (A684T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028643	NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln)	MYO7A (R605Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1016771	NM_000260.4(MYO7A):c.1165G>A (p.Glu389Lys)	MYO7A (E378K +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	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 991222	NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro)	MYO7A (L778P +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 990558	NM_000260.4(MYO7A):c.132+6T>C	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 966679	NM_000260.4(MYO7A):c.2717G>A (p.Arg906His)	MYO7A (R895H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 965138	NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser)	MYO7A (G1602S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +1 more	GPathogenic
Select item 962789	NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr)	MYO7A (A1324T +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 959330	NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His)	MYO7A (R2176H +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 959009	NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter)	MYO7A (C154* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GPathogenic
Select item 957775	NM_000260.4(MYO7A):c.1690+3A>G	MYO7A	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 952138	NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu)	MYO7A (S1718L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 941135	NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr)	MYO7A (F213Y +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 930007	NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys)	MYO7A (R812C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 884158	NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser)	MYO7A (P121S +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 884104	NM_000260.4(MYO7A):c.5589C>T (p.His1863=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 884039	NM_000260.4(MYO7A):c.-52C>G	MYO7A	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 883973	NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp)	MYO7A (V1624D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 883826	NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 883669	NM_000260.4(MYO7A):c.3375+12C>T	MYO7A	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 883582	NM_000260.4(MYO7A):c.2598C>T (p.Arg866=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 883481	NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln)	MYO7A (R646Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 883430	NM_000260.4(MYO7A):c.1690+4C>T	MYO7A	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 883340	NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 883236	NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met)	MYO7A (T1729M +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 883120	NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 883046	NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln)	MYO7A (K1478Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 882835	NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile)	MYO7A (M918I +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 882708	NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn)	MYO7A (D637N +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 882707	NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met)	MYO7A (T613M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 882655	NM_000260.4(MYO7A):c.*201T>C	MYO7A	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 882607	NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr)	MYO7A (I2122T +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 882606	NM_000260.4(MYO7A):c.1201-12A>G	MYO7A	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 882559	NM_000260.4(MYO7A):c.813C>T (p.Gly271=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 882290	NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile)	MYO7A (T1988I +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 882289	NM_000260.4(MYO7A):c.5945-9G>C	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 882288	NM_000260.4(MYO7A):c.741G>A (p.Leu247=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 882251	NM_000260.4(MYO7A):c.495G>A (p.Thr165=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 882146	NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 881872	NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn)	MYO7A (K1376N +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 881825	NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser)	MYO7A (A1288S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GUncertain significance
Select item 881771	NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln)	MYO7A (R1202Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 881724	NM_000260.4(MYO7A):c.3109-15C>T	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 881683	NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)	MYO7A (A908T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 881547	NM_000260.4(MYO7A):c.*440G>A	MYO7A	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 881546	NM_000260.4(MYO7A):c.*416C>T	MYO7A	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 11 +2 more	GConflicting classifications of pathogenicity
Select item 881499	NM_000260.4(MYO7A):c.*100C>T	MYO7A	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 881498	NM_000260.4(MYO7A):c.*75C>T	MYO7A	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 881497	NM_000260.4(MYO7A):c.*38G>A	MYO7A	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 11 +2 more	GConflicting classifications of pathogenicity
Select item 881437	NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu)	MYO7A (F1340L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 881380	NM_000260.4(MYO7A):c.3751-14T>C	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 881328	NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity

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