1690[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154183	GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1	AKAP6, AP4S1 +73 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 313000	NM_004086.2(COCH):c.-66C>T	COCH, LOC130055442	Single nucleotide variant	Nonsyndromic Hearing Loss, Dominant	GUncertain significance
Select item 1211320	NM_004086.3(COCH):c.-24+153T>G	COCH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 682803	NM_004086.3(COCH):c.-23-83A>G	COCH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1211708	NM_004086.3(COCH):c.-23-51G>A	COCH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 882735	NM_004086.3(COCH):c.-10A>G	COCH	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 667098	NM_004086.3(COCH):c.22G>A (p.Ala8Thr)	COCH (A8T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 514369	NM_004086.3(COCH):c.25C>G (p.Leu9Val)	COCH (L9V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2967141	NM_004086.3(COCH):c.34+15C>T	COCH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 505276	NM_004086.3(COCH):c.35G>A (p.Gly12Asp)	COCH (G12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147062	NM_004086.3(COCH):c.38T>C (p.Val13Ala)	COCH (V13A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147064	NM_004086.3(COCH):c.64G>A (p.Ala22Thr)	COCH (A22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573515	NM_004086.3(COCH):c.73G>C (p.Glu25Gln)	COCH (E25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1217827	NM_004086.3(COCH):c.82+64G>A	COCH (R49Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3055531	NM_004086.3(COCH):c.82+88C>T	COCH (A57V)	Single nucleotide variant (missense variant +1 more)	COCH-related disorder	GBenign
Select item 1182286	NM_004086.3(COCH):c.82+97T>G	COCH (L60R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3053770	NM_004086.3(COCH):c.82+149G>A	COCH	Single nucleotide variant (synonymous variant +1 more)	COCH-related disorder	GLikely benign
Select item 3355907	NM_004086.3(COCH):c.82+165G>A	COCH (D83N)	Single nucleotide variant (missense variant +1 more)	COCH-related disorder	GUncertain significance
Select item 1229718	NM_004086.3(COCH):c.82+174C>T	COCH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3251070	NM_004086.3(COCH):c.82+176G>A	COCH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3352026	NM_004086.3(COCH):c.82+196G>A	COCH	Single nucleotide variant (splice donor variant +1 more)	COCH-related disorder	GUncertain significance
Select item 1190096	NM_004086.3(COCH):c.82+204C>G	COCH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198065	NM_004086.3(COCH):c.83-321T>C	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221585	NM_004086.3(COCH):c.83-298G>A	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241517	NM_004086.3(COCH):c.83-268C>A	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251904	NM_004086.3(COCH):c.83-212G>C	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2851928	NM_004086.3(COCH):c.83-17A>G	COCH, LOC100506071	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 595709	NM_004086.3(COCH):c.87C>T (p.Pro29=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 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 882736	NM_004086.3(COCH):c.108C>T (p.Thr36=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 9	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 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 1214980	NM_004086.3(COCH):c.118G>A (p.Asp40Asn)	COCH, LOC100506071 (D105N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 882737	NM_004086.3(COCH):c.126G>A (p.Arg42=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 9	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 178319	NM_004086.3(COCH):c.141T>C (p.Asp47=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 6611	NM_004086.3(COCH):c.151C>T (p.Pro51Ser)	COCH, LOC100506071 (P51S +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 287013	NM_004086.3(COCH):c.153A>C (p.Pro51=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3268447	NM_004086.3(COCH):c.163C>T (p.Pro55Ser)	COCH, LOC100506071 (P120S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 668387	NM_004086.3(COCH):c.167T>C (p.Leu56Pro)	COCH, LOC100506071 (L121P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 618569	NM_004086.3(COCH):c.177C>A (p.Phe59Leu)	COCH, LOC100506071 (F59L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3268446	NM_004086.3(COCH):c.191A>G (p.Asn64Ser)	COCH, LOC100506071 (N64S +1 more)	Single nucleotide variant (missense variant)	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 6608	NM_004086.3(COCH):c.197T>G (p.Val66Gly)	COCH, LOC100506071 (V66G +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	GPathogenic
Select item 286749	NM_004086.3(COCH):c.198A>T (p.Val66=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 1959122	NM_004086.3(COCH):c.207T>C (p.Ser69=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1211221	NM_004086.3(COCH):c.212C>T (p.Ser71Leu)	COCH, LOC100506071 (S136L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356522	NM_004086.3(COCH):c.223G>A (p.Gly75Arg)	COCH, LOC100506071 (G140R +1 more)	Single nucleotide variant (missense variant)	COCH-related disorder	GUncertain significance
Select item 197227	NM_004086.3(COCH):c.239+5G>A	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 162971	NM_004086.3(COCH):c.239+7C>G	COCH, LOC100506071	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1212663	NM_004086.3(COCH):c.239+37G>A	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254665	NM_004086.3(COCH):c.239+39C>T	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181364	NM_004086.3(COCH):c.239+77del	LOC100506071, COCH	Deletion (intron variant)	not provided	GLikely benign
Select item 177681	NM_004086.3(COCH):c.239+78T>C	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 44768	NM_004086.3(COCH):c.239+80del	COCH, LOC100506071	Deletion (intron variant)	not provided	GBenign
Select item 1289197	NM_004086.3(COCH):c.239+139C>T	COCH, LOC100506071	Single nucleotide variant (intron variant)	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 1257851	NM_004086.3(COCH):c.240-239A>T	LOC100506071, COCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2957995	NM_004086.3(COCH):c.240-16T>C	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 517362	NM_004086.3(COCH):c.260G>C (p.Gly87Ala)	COCH, LOC100506071 (G87A +1 more)	Single nucleotide variant (missense variant)	Rare genetic deafness	GLikely pathogenic
Select item 178988	NM_004086.3(COCH):c.263G>T (p.Gly88Val)	COCH, LOC100506071 (G88V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6609	NM_004086.3(COCH):c.263G>A (p.Gly88Glu)	COCH, LOC100506071 (G88E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 882738	NM_004086.3(COCH):c.266C>A (p.Pro89His)	COCH, LOC100506071 (P154H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 3342935	NM_004086.3(COCH):c.269T>A (p.Val90Glu)	COCH, LOC100506071 (V155E +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 228524	NM_004086.3(COCH):c.271C>T (p.Arg91Ter)	COCH, LOC100506071 (R91* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 500137	NM_004086.3(COCH):c.272G>A (p.Arg91Gln)	COCH, LOC100506071 (R91Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 431458	NM_004086.3(COCH):c.292C>T (p.Arg98Ter)	LOC100506071, COCH (R98* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 883529	NM_004086.3(COCH):c.293G>A (p.Arg98Gln)	COCH, LOC100506071 (R98Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9 +2 more	GUncertain significance
Select item 883530	NM_004086.3(COCH):c.301T>A (p.Tyr101Asn)	COCH, LOC100506071 (Y166N +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 3268448	NM_004086.3(COCH):c.305C>T (p.Ser102Phe)	COCH, LOC100506071 (S167F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2965327	NM_004086.3(COCH):c.321T>C (p.Asn107=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 6612	NM_004086.3(COCH):c.326T>A (p.Ile109Asn)	COCH, LOC100506071 (I109N +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1028194	NM_004086.3(COCH):c.329A>G (p.Gln110Arg)	COCH, LOC100506071 (Q110R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	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 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 1174533	NM_004086.3(COCH):c.341T>C (p.Leu114Pro)	COCH, LOC100506071 (L114P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	GPathogenic
Select item 1176621	NM_004086.3(COCH):c.345T>C (p.Ser115=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 6610	NM_004086.3(COCH):c.349T>C (p.Trp117Arg)	COCH, LOC100506071 (W117R +1 more)	Single nucleotide variant (missense variant)	Hereditary hearing loss and deafness	GPathogenic
Select item 6613	NM_004086.3(COCH):c.355G>A (p.Ala119Thr)	COCH, LOC100506071 (A119T +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 2736106	NM_004086.3(COCH):c.362T>C (p.Phe121Ser)	COCH, LOC100506071 (F121S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9 +1 more	GPathogenic
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

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