Related gene-specific medical variations for Gene (Select 100506071) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147065	NM_004086.3(COCH):c.740C>T (p.Ala247Val)	COCH, LOC100506071 (A312V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147063	NM_004086.3(COCH):c.495C>G (p.Asp165Glu)	COCH, LOC100506071 (D165E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147061	NM_004086.3(COCH):c.1474G>A (p.Ala492Thr)	COCH, LOC100506071 (A557T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147060	NM_004086.3(COCH):c.1310T>G (p.Ile437Ser)	COCH, LOC100506071 (I437S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147059	NM_004086.3(COCH):c.109A>G (p.Arg37Gly)	COCH, LOC100506071 (R37G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037040	NM_004086.3(COCH):c.1293A>C (p.Leu431=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	COCH-related disorder	GLikely benign
Select item 2994272	NM_004086.3(COCH):c.679G>A (p.Asp227Asn)	COCH, LOC100506071 (D227N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2991855	NM_004086.3(COCH):c.738A>G (p.Lys246=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971740	NM_004086.3(COCH):c.734-15_734-13del	COCH, LOC100506071	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2971720	NM_004086.3(COCH):c.978T>C (p.Asn326=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2965327	NM_004086.3(COCH):c.321T>C (p.Asn107=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	COCH-related disorder +1 more	GLikely benign
Select item 2957995	NM_004086.3(COCH):c.240-16T>C	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955390	NM_004086.3(COCH):c.547T>A (p.Leu183Ile)	COCH, LOC100506071 (L248I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909513	NM_004086.3(COCH):c.1324G>C (p.Gly442Arg)	COCH, LOC100506071 (G442R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2899536	NM_004086.3(COCH):c.918T>G (p.Pro306=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2895418	NM_004086.3(COCH):c.630-7C>T	COCH, LOC100506071	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2889351	NM_004086.3(COCH):c.1073GCA[1] (p.Ser359del)	COCH, LOC100506071 (S359del +1 more)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2878262	NM_004086.3(COCH):c.1440T>C (p.Asp480=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2851928	NM_004086.3(COCH):c.83-17A>G	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2817298	NM_004086.3(COCH):c.1264A>G (p.Thr422Ala)	COCH, LOC100506071 (T422A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2816284	NM_004086.3(COCH):c.1575_1578del (p.Arg525fs)	COCH, LOC100506071 (R525fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2812560	NM_004086.3(COCH):c.203C>T (p.Ala68Val)	COCH, LOC100506071 (A68V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738268	NM_004086.3(COCH):c.598G>A (p.Glu200Lys)	COCH, LOC100506071 (E265K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736106	NM_004086.3(COCH):c.362T>C (p.Phe121Ser)	COCH, LOC100506071 (F121S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2715504	NM_004086.3(COCH):c.814G>A (p.Val272Ile)	COCH, LOC100506071 (V272I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2683248	NM_004086.3(COCH):c.1166T>C (p.Phe389Ser)	COCH, LOC100506071 (F389S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2663522	NM_004086.3(COCH):c.149G>A (p.Cys50Tyr)	COCH, LOC100506071 (C115Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644150	NM_004086.3(COCH):c.271C>G (p.Arg91Gly)	COCH, LOC100506071 (R156G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631556	NM_004086.3(COCH):c.130G>C (p.Glu44Gln)	COCH, LOC100506071 (E109Q +1 more)	Single nucleotide variant (missense variant)	COCH-related disorder	GUncertain significance
Select item 2612009	NM_004086.3(COCH):c.1093T>C (p.Ser365Pro)	COCH, LOC100506071 (S365P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2581793	NM_004086.3(COCH):c.1196_1213del (p.Ile399_Ala404del)	COCH, LOC100506071	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2484017	NM_004086.3(COCH):c.895G>C (p.Val299Leu)	COCH, LOC100506071 (V299L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478987	NM_004086.3(COCH):c.938A>G (p.Gln313Arg)	COCH, LOC100506071 (Q313R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2440181	NM_004086.3(COCH):c.193A>G (p.Ile65Val)	COCH, LOC100506071 (I130V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430251	NM_004086.3(COCH):c.366_371del (p.Val123_Thr124del)	COCH, LOC100506071	Deletion (inframe_deletion)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 2412912	NM_004086.3(COCH):c.794G>C (p.Gly265Ala)	COCH, LOC100506071 (G265A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2379493	NM_004086.3(COCH):c.510T>G (p.Ile170Met)	COCH, LOC100506071 (I235M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359332	NM_004086.3(COCH):c.403G>A (p.Gly135Arg)	COCH, LOC100506071 (G135R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2330782	NM_004086.3(COCH):c.970C>T (p.Arg324Trp)	COCH, LOC100506071 (R324W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306363	NM_004086.3(COCH):c.107C>T (p.Thr36Ile)	COCH, LOC100506071 (T36I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302725	NM_004086.3(COCH):c.1648C>A (p.Gln550Lys)	COCH, LOC100506071 (Q615K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298249	NM_004086.3(COCH):c.979G>A (p.Gly327Ser)	COCH, LOC100506071 (G392S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2290323	NM_004086.3(COCH):c.332C>A (p.Ser111Tyr)	COCH, LOC100506071 (S111Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281723	NM_004086.3(COCH):c.282C>A (p.Ser94Arg)	COCH, LOC100506071 (S159R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262836	NM_004086.3(COCH):c.443G>A (p.Arg148Gln)	COCH, LOC100506071 (R213Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247334	NM_004086.3(COCH):c.493G>A (p.Asp165Asn)	COCH, LOC100506071 (D165N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2167078	NM_004086.3(COCH):c.96C>T (p.Ile32=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144768	NM_004086.3(COCH):c.1139_1142dup (p.Ser381delinsArgTer)	LOC100506071, COCH	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2136105	NM_004086.3(COCH):c.1315_1377del (p.Tyr439_Gly459del)	LOC100506071, COCH	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2099608	NM_004086.3(COCH):c.1059T>C (p.His353=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2060532	NM_004086.3(COCH):c.1554G>A (p.Glu518=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2034858	NM_004086.3(COCH):c.1250C>A (p.Thr417Lys)	COCH, LOC100506071 (T417K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2026649	NM_004086.3(COCH):c.433A>G (p.Thr145Ala)	COCH, LOC100506071 (T145A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982694	NM_004086.3(COCH):c.729T>C (p.Asn243=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1968154	NM_004086.3(COCH):c.1546C>T (p.Pro516Ser)	COCH, LOC100506071 (P581S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1959122	NM_004086.3(COCH):c.207T>C (p.Ser69=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953466	NM_004086.3(COCH):c.630-15_630-14del	COCH, LOC100506071	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1934018	NM_004086.3(COCH):c.1318A>G (p.Met440Val)	COCH, LOC100506071 (M440V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1918558	NM_004086.3(COCH):c.960+18del	COCH, LOC100506071	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1915333	NM_004086.3(COCH):c.320A>G (p.Asn107Ser)	COCH, LOC100506071 (N172S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901978	NM_004086.3(COCH):c.314A>G (p.Asp105Gly)	COCH, LOC100506071 (D170G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901437	NM_004086.3(COCH):c.496A>G (p.Ile166Val)	COCH, LOC100506071 (I231V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804573	NM_004086.3(COCH):c.126G>C (p.Arg42Ser)	COCH, LOC100506071 (R107S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1585557	NM_004086.3(COCH):c.909G>A (p.Lys303=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1528583	NM_004086.3(COCH):c.629+11T>G	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1507984	NM_004086.3(COCH):c.1537G>C (p.Ala513Pro)	COCH, LOC100506071 (A513P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1483684	NM_004086.3(COCH):c.340C>T (p.Leu114Phe)	COCH, LOC100506071 (L179F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478936	NM_004086.3(COCH):c.1478-9T>A	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1475106	NM_004086.3(COCH):c.1027G>A (p.Val343Ile)	COCH, LOC100506071 (V408I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1468777	NM_004086.3(COCH):c.1084T>A (p.Cys362Ser)	COCH, LOC100506071 (C362S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1451749	NM_004086.3(COCH):c.433del (p.Thr145fs)	COCH, LOC100506071 (T145fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1436477	NM_004086.3(COCH):c.1103T>C (p.Ile368Thr)	COCH, LOC100506071 (I368T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1419660	NM_004086.3(COCH):c.760A>C (p.Lys254Gln)	COCH, LOC100506071 (K254Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1396121	NM_004086.3(COCH):c.1200G>A (p.Ser400=)	LOC100506071, COCH	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1383564	NM_004086.3(COCH):c.1360G>T (p.Val454Phe)	COCH, LOC100506071 (V454F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1353361	NM_004086.3(COCH):c.890T>G (p.Phe297Cys)	COCH, LOC100506071 (F297C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1345911	NM_004086.3(COCH):c.1157T>C (p.Met386Thr)	COCH, LOC100506071 (M386T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1333477	NM_004086.3(COCH):c.113G>A (p.Gly38Asp)	COCH, LOC100506071 (G103D +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 1321782	NM_004086.3(COCH):c.1009T>C (p.Phe337Leu)	COCH, LOC100506071 (F337L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1315432	NM_004086.3(COCH):c.1327G>T (p.Gly443Ter)	COCH, LOC100506071 (G443* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1314470	NM_004086.3(COCH):c.1271A>G (p.Tyr424Cys)	COCH, LOC100506071 (Y424C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1308478	NM_004086.3(COCH):c.410C>A (p.Ala137Glu)	COCH, LOC100506071 (A137E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307798	NM_004086.3(COCH):c.847G>A (p.Glu283Lys)	LOC100506071, COCH (E283K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1306525	NM_004086.3(COCH):c.539G>A (p.Arg180Gln)	COCH, LOC100506071 (R180Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305492	NM_004086.3(COCH):c.1247G>A (p.Arg416His)	COCH, LOC100506071 (R416H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1304668	NM_004086.3(COCH):c.389C>T (p.Thr130Ile)	COCH, LOC100506071 (T130I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297642	NM_004086.3(COCH):c.259G>T (p.Gly87Trp)	COCH, LOC100506071 (G152W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1289197	NM_004086.3(COCH):c.239+139C>T	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289127	NM_004086.3(COCH):c.629+83A>G	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288779	NM_004086.3(COCH):c.961-35C>T	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1286712	NM_004086.3(COCH):c.240-308A>G	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281742	NM_004086.3(COCH):c.1478-201_1478-198dup	COCH, LOC100506071	Duplication (intron variant +1 more)	not provided	GBenign
Select item 1280056	NM_004086.3(COCH):c.437-188C>A	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275927	NM_004086.3(COCH):c.629+38del	COCH, LOC100506071	Deletion (intron variant)	not provided	GBenign
Select item 1274427	NM_004086.3(COCH):c.630-208A>C	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270336	NM_004086.3(COCH):c.373+23T>C	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264956	NM_004086.3(COCH):c.733+53C>G	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257851	NM_004086.3(COCH):c.240-239A>T	LOC100506071, COCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254665	NM_004086.3(COCH):c.239+39C>T	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253205	NM_004086.3(COCH):c.1478-220C>T	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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