ClinVar for MedGen (Select 331297) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3024083	NM_000260.4(MYO7A):c.2165G>T (p.Gly722Val)	MYO7A (G711V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
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 2157911	NM_000260.4(MYO7A):c.4688C>T (p.Ala1563Val)	MYO7A (A1514V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 1339095	NM_000260.4(MYO7A):c.5221A>G (p.Lys1741Glu)	MYO7A (K1692E +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
Select item 1333565	NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys)	MYO7A (R842C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +1 more	GPathogenic/Likely pathogenic
Select item 1312575	NM_000260.4(MYO7A):c.1369G>A (p.Ala457Thr)	MYO7A (A446T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1311975	NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln)	MYO7A (R961Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 1031479	NM_000260.4(MYO7A):c.2573G>A (p.Arg858His)	MYO7A (R858H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028645	NM_000260.4(MYO7A):c.3226G>A (p.Glu1076Lys)	MYO7A (E1065K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
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 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 983065	NM_000260.4(MYO7A):c.2003G>T (p.Arg668Leu)	MYO7A (R657L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11	GUncertain significance
Select item 976380	NM_000260.4(MYO7A):c.2684G>A (p.Arg895His)	MYO7A (R884H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +1 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 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 932085	NM_000260.4(MYO7A):c.5982G>A (p.Met1994Ile)	MYO7A (M1956I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931720	NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg)	MYO7A (G2137R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 931425	NM_000260.4(MYO7A):c.3750+20C>T	MYO7A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930183	NM_000260.4(MYO7A):c.2764AAG[1] (p.Lys923del)	MYO7A (K912del +1 more)	Microsatellite (inframe_deletion)	Autosomal dominant nonsyndromic hearing loss 11	GLikely pathogenic
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 929910	NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met)	MYO7A (T2081M +2 more)	Single nucleotide variant (missense variant)	not provided +3 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
Select item 881262	NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu)	MYO7A (D1019E +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 881167	NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp)	MYO7A (R793W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GUncertain significance
Select item 881078	NM_000260.4(MYO7A):c.*392A>G	MYO7A	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 881077	NM_000260.4(MYO7A):c.*315C>G	MYO7A	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 881076	NM_000260.4(MYO7A):c.1797+13C>T	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 881075	NM_000260.4(MYO7A):c.1719G>T (p.Leu573=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 881039	NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe)	MYO7A (S2211F +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 880933	NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 880745	NM_000260.4(MYO7A):c.5327-10C>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +2 more	GUncertain significance

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