C1838701[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553231	NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)	MYO7A (M1I)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GPathogenic/Likely pathogenic
Select item 558377	NM_000260.4(MYO7A):c.18+2T>A	MYO7A	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 558668	NM_000260.4(MYO7A):c.19-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1 +1 more	GPathogenic
Select item 43163	NM_000260.4(MYO7A):c.19-1G>A	MYO7A	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness +3 more	GLikely pathogenic
Select item 242393	NM_000260.4(MYO7A):c.29T>C (p.Val10Ala)	MYO7A (V10A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 549974	NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter)	MYO7A (L16* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 504505	NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)	MYO7A (Q18* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 177722	NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)	MYO7A (G25R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 11859	NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)	MYO7A (C31* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 556811	NM_000260.4(MYO7A):c.117_132+6del	MYO7A	Deletion (splice donor variant)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 554667	NM_000260.4(MYO7A):c.133-7_146dup	MYO7A	Duplication (splice acceptor variant)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 555778	NM_000260.4(MYO7A):c.133-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	MYO7A-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 555254	NM_000260.4(MYO7A):c.133-2A>C	MYO7A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 43158	NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg)	MYO7A (P61R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 555510	NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del)	MYO7A	Deletion (inframe_deletion)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 556446	NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro)	MYO7A (L73P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 553215	NM_000260.4(MYO7A):c.224dup (p.Asp75fs)	MYO7A (D64fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 419493	NM_000260.4(MYO7A):c.285+1G>C	MYO7A	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GPathogenic/Likely pathogenic
Select item 554125	NM_000260.4(MYO7A):c.285+2T>G	MYO7A	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GPathogenic/Likely pathogenic
Select item 554602	NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer)	MYO7A	Deletion (nonsense)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 557654	NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys)	MYO7A (N106K +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 43213	NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)	MYO7A (R120S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 43224	NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)	MYO7A (I127T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GConflicting classifications of pathogenicity
Select item 43229	NM_000260.4(MYO7A):c.397dup (p.His133fs)	MYO7A (H122fs +1 more)	Duplication	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GPathogenic/Likely pathogenic
Select item 557571	NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu)	MYO7A (P131L +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 552051	NM_000260.4(MYO7A):c.397C>G (p.His133Asp)	MYO7A (H133D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GConflicting classifications of pathogenicity
Select item 164656	NM_000260.4(MYO7A):c.397C>A (p.His133Asn)	MYO7A (H133N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GConflicting classifications of pathogenicity
Select item 43230	NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)	MYO7A (I134N +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 177712	NM_000260.4(MYO7A):c.470+1G>A	MYO7A	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 557808	NM_000260.4(MYO7A):c.471-1G>A	MYO7A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1 +2 more	GPathogenic/Likely pathogenic
Select item 43262	NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr)	MYO7A (A162T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 553070	NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)	MYO7A (G163R +1 more)	Single nucleotide variant (missense variant)	Usher syndrome +3 more	GPathogenic/Likely pathogenic
Select item 43264	NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)	MYO7A (T165M +1 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +1 more	GPathogenic
Select item 500317	NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile)	MYO7A (T193I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 227687	NM_000260.4(MYO7A):c.593-4G>A	MYO7A	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 551019	NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys)	MYO7A (R206C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43325	NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)	MYO7A (S211G +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 11850	NM_000260.4(MYO7A):c.635G>A (p.Arg212His)	MYO7A (R212H +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 43327	NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)	MYO7A (G214R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 11848	NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)	MYO7A (Q234* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GPathogenic
Select item 438180	NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)	MYO7A (R241C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 554132	NM_000260.4(MYO7A):c.736-3C>T	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 43345	NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)	MYO7A (Y333* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +2 more	GPathogenic
Select item 43133	NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)	MYO7A (L366P +1 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 228997	NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)	MYO7A (R373C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GConflicting classifications of pathogenicity
Select item 164666	NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val)	MYO7A (L375V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 43135	NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)	MYO7A (R378C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +5 more	GConflicting classifications of pathogenicity
Select item 43136	NM_000260.4(MYO7A):c.1133G>A (p.Arg378His)	MYO7A (R378H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 236486	NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg)	MYO7A (G379R +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 552693	NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)	MYO7A (T381M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 557374	NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val)	MYO7A (A391V +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 555138	NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)	MYO7A (R395C +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 554214	NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)	MYO7A (A397T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GConflicting classifications of pathogenicity
Select item 43138	NM_000260.4(MYO7A):c.1200+1G>A	MYO7A	Single nucleotide variant (splice donor variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 178667	NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)	MYO7A (Y403C +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 43139	NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala)	MYO7A (V411A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 550186	NM_000260.4(MYO7A):c.1343+1G>A	MYO7A	Single nucleotide variant (splice donor variant)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 43143	NM_000260.4(MYO7A):c.1344-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness +5 more	GPathogenic
Select item 554415	NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)	MYO7A (E450Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GConflicting classifications of pathogenicity
Select item 227677	NM_000260.4(MYO7A):c.1368C>T (p.Phe456=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 43145	NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)	MYO7A	Duplication (inframe_insertion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 553342	NM_000260.4(MYO7A):c.1403A>G (p.His468Arg)	MYO7A (H468R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 43149	NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr)	MYO7A (I499T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 178479	NM_000260.4(MYO7A):c.1506G>A (p.Lys502=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 179865	NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)	MYO7A (K515Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 372430	NM_000260.4(MYO7A):c.1555-8C>G	MYO7A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GPathogenic/Likely pathogenic
Select item 43151	NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)	MYO7A (G519D +1 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 552723	NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del)	MYO7A	Deletion (inframe_deletion)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 556010	NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup)	MYO7A	Duplication (inframe_insertion)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 553105	NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)	MYO7A (Q531* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 228279	NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)	MYO7A (P540H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GConflicting classifications of pathogenicity
Select item 556212	NM_000260.4(MYO7A):c.1691-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 43156	NM_000260.4(MYO7A):c.1721A>C (p.His574Pro)	MYO7A (H574P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GUncertain significance
Select item 164674	NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)	MYO7A (D576N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 550618	NM_000260.4(MYO7A):c.1798-3C>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 557873	NM_000260.4(MYO7A):c.1798-1G>A	MYO7A	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43160	NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)	MYO7A (R616W +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 438172	NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)	MYO7A (S617P +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 43162	NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)	MYO7A (R623H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 550943	NM_000260.4(MYO7A):c.1935+1G>C	MYO7A	Single nucleotide variant (splice donor variant)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 229000	NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)	MYO7A (R649W +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GUncertain significance
Select item 43166	NM_000260.4(MYO7A):c.1956C>T (p.Cys652=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 242392	NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)	MYO7A (R657W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GPathogenic/Likely pathogenic
Select item 11860	NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)	MYO7A (R666* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GPathogenic
Select item 556881	NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)	MYO7A (R666Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 43169	NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)	MYO7A (R669* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 2 +5 more	GPathogenic/Likely pathogenic
Select item 229001	NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)	MYO7A (R669Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 558557	NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys)	MYO7A (R675C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 43173	NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)	MYO7A (M708V +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 43176	NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)	MYO7A (R740W +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 553252	NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs)	MYO7A (R747fs +1 more)	Microsatellite (frameshift variant)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 551301	NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp)	MYO7A (R756W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 551608	NM_000260.4(MYO7A):c.2283-2_2293del	MYO7A	Deletion (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GLikely pathogenic
Select item 43178	NM_000260.4(MYO7A):c.2283-1G>T	MYO7A	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GPathogenic
Select item 371700	NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)	MYO7A (Q775* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 554512	NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter)	MYO7A (Y787* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 43181	NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly)	MYO7A (R796G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 43182	NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln)	MYO7A (R796Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 179827	NM_000260.4(MYO7A):c.2421C>T (p.His807=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 550026	NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)	MYO7A (Q821* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic

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