ClinVar for MedGen (Select 292820) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237173	NM_000260.4(MYO7A):c.272del (p.Asp91fs)	MYO7A (D80fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
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 2578424	NM_000260.4(MYO7A):c.5043+3A>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1	GUncertain significance
Select item 2502346	NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs)	MYO7A (K912fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1 +1 more	GPathogenic
Select item 2137204	NM_000260.4(MYO7A):c.3109-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
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 1801518	NM_000260.4(MYO7A):c.471-2A>C	MYO7A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1726961	NM_000260.4(MYO7A):c.2743G>T (p.Glu915Ter)	MYO7A (E904* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1726934	NM_000260.4(MYO7A):c.1348G>T (p.Glu450Ter)	MYO7A (E439* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1726928	NM_000260.4(MYO7A):c.2089A>T (p.Lys697Ter)	MYO7A (K686* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1726755	NM_000260.4(MYO7A):c.2287_2288del (p.Asn763fs)	MYO7A (N752fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1726645	NM_000260.4(MYO7A):c.5179A>T (p.Lys1727Ter)	MYO7A (K1678* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1726387	NM_000260.4(MYO7A):c.1974C>G (p.Tyr658Ter)	MYO7A (Y647* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1726363	NM_000260.4(MYO7A):c.1534G>T (p.Glu512Ter)	MYO7A (E501* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1726296	NM_000260.4(MYO7A):c.2702_2703insAA (p.Ala902fs)	MYO7A (A891fs +1 more)	Insertion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1726274	NM_000260.4(MYO7A):c.2137_2138insAAAGGTT (p.Leu713fs)	MYO7A (L702fs +1 more)	Insertion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1726062	NM_000260.4(MYO7A):c.1642C>T (p.Gln548Ter)	MYO7A (Q537* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1726045	NM_000260.4(MYO7A):c.602del (p.Asn201fs)	MYO7A (N190fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1726043	NM_000260.4(MYO7A):c.2425C>T (p.Gln809Ter)	MYO7A (Q798* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1725934	NM_000260.4(MYO7A):c.1931_1932del (p.Pro644fs)	MYO7A (P633fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1725928	NM_000260.4(MYO7A):c.6355C>T (p.Gln2119Ter)	MYO7A (Q2070* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1725916	NM_000260.4(MYO7A):c.1583_1584del (p.Leu528fs)	MYO7A (L517fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1725885	NM_000260.4(MYO7A):c.2253del (p.Gln752fs)	MYO7A (Q741fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1725871	NM_000260.4(MYO7A):c.2077_2078delinsT (p.Lys693fs)	MYO7A (K682fs +1 more)	Indel (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1725858	NM_000260.4(MYO7A):c.275_278dup (p.Ile94fs)	MYO7A (I83fs +1 more)	Duplication (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1725403	NM_000260.4(MYO7A):c.548C>A (p.Ser183Ter)	MYO7A (S172* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1725331	NM_000260.4(MYO7A):c.5275A>T (p.Lys1759Ter)	MYO7A (K1710* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1725292	NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter)	MYO7A (K2086* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1725219	NM_000260.4(MYO7A):c.2839_2840insGTATAAGAGACAG (p.Phe947fs)	MYO7A (F936fs +1 more)	Insertion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1725166	NM_000260.4(MYO7A):c.2779del (p.Glu927fs)	MYO7A (E916fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1725077	NM_000260.4(MYO7A):c.2116del (p.Gln706fs)	MYO7A (Q695fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1725058	NM_000260.4(MYO7A):c.4363A>T (p.Lys1455Ter)	MYO7A (K1444* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1724883	NM_000260.4(MYO7A):c.2441del (p.Arg814fs)	MYO7A (R803fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1724803	NM_000260.4(MYO7A):c.2576_2577del (p.Leu859fs)	MYO7A (L848fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1724663	NM_000260.4(MYO7A):c.3779T>A (p.Leu1260Ter)	MYO7A (L1249* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1724624	NM_000260.4(MYO7A):c.767del (p.Tyr256fs)	MYO7A (Y245fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1724562	NM_000260.4(MYO7A):c.2998A>T (p.Lys1000Ter)	MYO7A (K1000* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1724402	NM_000260.4(MYO7A):c.1237A>T (p.Lys413Ter)	MYO7A (K402* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1724243	NM_000260.4(MYO7A):c.83_84del (p.Val28fs)	MYO7A (V17fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1724067	NM_000260.4(MYO7A):c.802A>T (p.Lys268Ter)	MYO7A (K257* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 1723915	NM_000260.4(MYO7A):c.2648del (p.Glu883fs)	MYO7A (E872fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1697268	NM_022124.6(CDH23):c.5369-1G>A	CDH23	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 1697267	NM_022124.6(CDH23):c.3220+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Usher syndrome type 1 +2 more	GLikely pathogenic
Select item 1687591	NM_000260.4(MYO7A):c.1804del (p.Glu602fs)	MYO7A (E591fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1684492	NM_000260.4(MYO7A):c.6238-1G>C	MYO7A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1684262	NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter)	MYO7A (E1392* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GPathogenic
Select item 1443412	NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu)	MYO7A (P1702L +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 1434715	NM_000260.4(MYO7A):c.1829_1832dup (p.Ser611_Ser612insTer)	MYO7A	Duplication (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1390500	NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter)	MYO7A (Q255* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1387794	NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met)	MYO7A (T1792M +2 more)	Single nucleotide variant (missense variant)	not specified +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 dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 1334124	NM_000260.4(MYO7A):c.6229dup (p.Trp2077fs)	MYO7A (W2028fs +2 more)	Duplication (frameshift variant)	Usher syndrome type 1	GPathogenic
Select item 1333582	NM_000260.4(MYO7A):c.6377del (p.Pro2126fs)	MYO7A (P2077fs +2 more)	Deletion (frameshift variant)	Usher syndrome type 1 +1 more	GPathogenic
Select item 1333427	NM_000260.4(MYO7A):c.4852+2T>C	MYO7A	Single nucleotide variant (splice donor variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1333289	NM_000260.4(MYO7A):c.6044A>G (p.Tyr2015Cys)	MYO7A (Y1966C +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GUncertain significance
Select item 1333215	NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys)	MYO7A (R884C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GConflicting classifications of pathogenicity
Select item 1315460	NM_153676.4(USH1C):c.1793G>A (p.Arg598His)	USH1C (R598H)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 1315321	NM_000260.4(MYO7A):c.3514T>A (p.Tyr1172Asn)	MYO7A (Y1161N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1302590	NM_000260.4(MYO7A):c.3245C>T (p.Thr1082Met)	MYO7A (T1071M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1284616	NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys)	MYO7A (E1868K +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1254478	NM_022124.6(CDH23):c.3179G>A (p.Arg1060Gln)	CDH23 (R1060Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214943	NM_022124.6(CDH23):c.3820G>A (p.Glu1274Lys)	C10orf105, CDH23 (E1274K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1212290	NM_022124.6(CDH23):c.1515-25T>A	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210438	NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys)	MYO7A (R922C +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +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 1210435	NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala)	MYO7A (P1209A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GUncertain significance
Select item 1209645	NM_000260.4(MYO7A):c.843G>A (p.Leu281=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +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)	Usher syndrome type 1 +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)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1202091	NM_022124.6(CDH23):c.8426G>A (p.Arg2809His)	CDH23 (R2809H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1197071	NM_022124.6(CDH23):c.6086G>A (p.Arg2029Gln)	CDH23 (R2029Q)	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 type 1 +1 more	GPathogenic/Likely pathogenic
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 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)	Usher syndrome type 1 +3 more	GBenign
Select item 1177472	NM_000260.4(MYO7A):c.6354+35G>A	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +3 more	GBenign/Likely benign
Select item 1177464	NM_000260.4(MYO7A):c.2905-162T>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +3 more	GBenign
Select item 1172719	NM_000260.4(MYO7A):c.6071G>C (p.Arg2024Pro)	MYO7A (R1975P +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 1172718	NM_000260.4(MYO7A):c.767A>G (p.Tyr256Cys)	MYO7A (Y245C +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GLikely pathogenic
Select item 1165972	NM_000260.4(MYO7A):c.2283-20C>T	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1164315	NM_022124.6(CDH23):c.1410C>T (p.Tyr470=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1147386	NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GConflicting classifications of pathogenicity
Select item 1139809	NM_022124.6(CDH23):c.7245G>A (p.Val2415=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1120070	NM_022124.6(CDH23):c.2008A>T (p.Thr670Ser)	CDH23 (T670S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1109578	NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1097035	NM_022124.6(CDH23):c.4536C>A (p.Ile1512=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1067735	NM_022124.6(CDH23):c.4206+1G>A	C10orf105, CDH23	Single nucleotide variant (splice donor variant +1 more)	Pituitary adenoma 5, multiple types +1 more	GLikely pathogenic
Select item 1067155	NM_022124.6(CDH23):c.8064+1G>A	LOC111982869, CDH23	Single nucleotide variant (splice donor variant)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
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 1062659	NM_022124.6(CDH23):c.1241G>A (p.Arg414Gln)	CDH23 (R414Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1062504	NM_022124.6(CDH23):c.9865A>G (p.Thr3289Ala)	CDH23 (T1014A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1061757	NM_022124.6(CDH23):c.3523G>A (p.Val1175Met)	C10orf105, CDH23 (V1175M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1061269	NM_022124.6(CDH23):c.4739G>A (p.Arg1580His)	CDH23 (R1580H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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