ClinVar for Gene (Select 3064) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361822	NM_001388492.1(HTT):c.1496C>T (p.Pro499Leu)	HTT (P499L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361821	NM_001388492.1(HTT):c.2414C>T (p.Ala805Val)	HTT (A805V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359130	NM_001388492.1(HTT):c.54GCA[30] (p.Gln38_Pro39insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	HTT	Microsatellite (inframe_insertion)	Huntington disease	GPathogenic
Select item 3355007	NM_001388492.1(HTT):c.8650C>T (p.Arg2884Cys)	HTT (R2884C +1 more)	Single nucleotide variant (missense variant)	HTT-related disorder	GBenign
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	GUncertain significance
Select item 3246663	NC_000004.11:g.(?_2822345)_(3495228_?)del	ADD1, DOK7 +8 more	Deletion	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 3238955	NM_001388492.1(HTT):c.7962G>A (p.Thr2654=)	HTT	Single nucleotide variant (synonymous variant)	Lopes-Maciel-Rodan syndrome	GUncertain significance
Select item 3068982	NM_001388492.1(HTT):c.171G>T (p.Gln57His)	HTT (Q57H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068981	NM_001388492.1(HTT):c.165G>T (p.Pro55=)	HTT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3063881	NM_001388492.1(HTT):c.2434C>T (p.Arg812Trp)	HTT (R812W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3057577	NM_001388492.1(HTT):c.9285C>T (p.Ala3095=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3054402	NM_001388492.1(HTT):c.7803C>T (p.Ile2601=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3052706	NM_001388492.1(HTT):c.1008C>T (p.Gly336=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3050228	NM_001388492.1(HTT):c.7014C>T (p.Ala2338=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3048422	NM_001388492.1(HTT):c.686C>T (p.Ala229Val)	HTT (A229V +1 more)	Single nucleotide variant (missense variant)	HTT-related disorder	GLikely benign
Select item 3046929	NM_001388492.1(HTT):c.9081G>A (p.Gly3027=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3046602	NM_001388492.1(HTT):c.8583G>A (p.Val2861=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3045802	NM_001388492.1(HTT):c.2460T>C (p.Ser820=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3045165	NM_001388492.1(HTT):c.7932C>G (p.Ala2644=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GBenign
Select item 3040819	NM_001388492.1(HTT):c.4080G>A (p.Met1360Ile)	HTT (M1360I +1 more)	Single nucleotide variant (missense variant)	HTT-related disorder	GLikely benign
Select item 3037955	NM_001388492.1(HTT):c.3816T>C (p.Asp1272=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3037076	NM_001388492.1(HTT):c.6018C>T (p.Arg2006=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3037017	NM_001388492.1(HTT):c.1692C>T (p.Thr564=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3036836	NM_001388492.1(HTT):c.6279G>A (p.Val2093=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3036835	NM_001388492.1(HTT):c.7500C>T (p.Val2500=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3036577	NM_001388492.1(HTT):c.7749G>A (p.Leu2583=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3036195	NM_001388492.1(HTT):c.1515G>A (p.Leu505=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3035944	NM_001388492.1(HTT):c.804G>A (p.Arg268=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3035721	NM_001388492.1(HTT):c.1182C>T (p.Thr394=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GBenign
Select item 3035586	NM_001388492.1(HTT):c.3267T>G (p.Ala1089=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GBenign
Select item 3034510	NM_001388492.1(HTT):c.7170A>C (p.Pro2390=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GBenign
Select item 3032534	NM_001388492.1(HTT):c.7110G>A (p.Leu2370=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3032380	NM_001388492.1(HTT):c.7776C>T (p.Ile2592=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3032095	NM_001388492.1(HTT):c.8835C>T (p.Ala2945=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3031759	NM_001388492.1(HTT):c.9342T>C (p.Ser3114=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3031241	NM_001388492.1(HTT):c.6066A>G (p.Ala2022=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3031160	NM_001388492.1(HTT):c.2727T>C (p.Asn909=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3031066	NM_001388492.1(HTT):c.4428G>A (p.Leu1476=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3030859	NM_001388492.1(HTT):c.5568G>A (p.Gln1856=)	HTT	Single nucleotide variant (synonymous variant)	HTT-related disorder	GLikely benign
Select item 3025275	NM_001388492.1(HTT):c.3918G>A (p.Met1306Ile)	HTT (M1306I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MAEA, MAN2B2 +117 more	Copy number loss	not provided	GPathogenic
Select item 2916836	NM_001388492.1(HTT):c.2487T>C (p.Ala829=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764394	NM_001388492.1(HTT):c.3992T>C (p.Leu1331Ser)	HTT (L1331S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685956	GRCh37/hg19 4p16.3(chr4:2841240-3197933)x3	ADD1, GRK4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2654598	NM_001388492.1(HTT):c.8651G>A (p.Arg2884His)	HTT (R2884H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654597	NM_001388492.1(HTT):c.8256C>T (p.Val2752=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654596	NM_001388492.1(HTT):c.2931C>A (p.Val977=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654595	NM_001388492.1(HTT):c.850A>G (p.Thr284Ala)	HTT (T284A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654594	NM_001388492.1(HTT):c.257A>C (p.His86Pro)	HTT, LOC129992103 (H86P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654593	NM_001388492.1(HTT):c.54GCA[31] (p.Gln38_Pro39insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	HTT, LOC109461479 +1 more	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ADRA2C, AFAP1 +132 more	Copy number loss	not provided	GPathogenic
Select item 2582507	NM_001388492.1(HTT):c.1978G>A (p.Glu660Lys)	HTT (E660K +1 more)	Single nucleotide variant (missense variant)	Lopes-Maciel-Rodan syndrome	GUncertain significance
Select item 2582492	NM_001388492.1(HTT):c.1913A>G (p.Gln638Arg)	HTT (Q638R +1 more)	Single nucleotide variant (missense variant)	Lopes-Maciel-Rodan syndrome	GUncertain significance
Select item 2582371	NM_001388492.1(HTT):c.3677C>T (p.Ser1226Leu)	HTT (S1226L +1 more)	Single nucleotide variant (missense variant)	Lopes-Maciel-Rodan syndrome	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2381651	NM_001388492.1(HTT):c.104A>C (p.Gln35Pro)	HTT, LOC109461479 +1 more (Q35P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350932	NM_001388492.1(HTT):c.122C>A (p.Pro41Gln)	HTT (P43Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345798	NM_001388492.1(HTT):c.92A>C (p.Gln31Pro)	HTT, LOC109461479 +1 more (Q31P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274568	NM_001388492.1(HTT):c.9020C>T (p.Pro3007Leu)	HTT (P3007L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265259	NM_001388492.1(HTT):c.86A>C (p.Gln29Pro)	HTT, LOC109461479 +1 more (Q29P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263737	NM_001388492.1(HTT):c.5159C>G (p.Thr1720Ser)	HTT (T1722S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2173177	NM_001388492.1(HTT):c.7848+13C>A	HTT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2167059	NM_001388492.1(HTT):c.8157G>A (p.Leu2719=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2041355	NM_001388492.1(HTT):c.7935C>A (p.Asp2645Glu)	HTT (D2645E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1970696	NM_001388492.1(HTT):c.4251T>G (p.Ala1417=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1953501	NM_001388492.1(HTT):c.2062T>C (p.Leu688=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809691	NM_001388492.1(HTT):c.99_100del (p.Gln34fs)	HTT, LOC109461479 +1 more (Q34fs)	Deletion (frameshift variant)	Huntington disease +1 more	GLikely benign
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808376	GRCh37/hg19 4p16.3(chr4:2906453-3225478)x3	ADD1, GRK4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1802652	NM_001388492.1(HTT):c.8248G>A (p.Ala2750Thr)	HTT (A2750T +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1802651	NM_001388492.1(HTT):c.5473A>G (p.Met1825Val)	HTT (M1825V +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1802562	NM_001388492.1(HTT):c.[5473A>G;8248G>A]	HTT (M1825V +3 more)	Single nucleotide variant (missense variant)	Lopes-Maciel-Rodan syndrome	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1690808	NM_001388492.1(HTT):c.54GCA[25] (p.Gln33_Gln38dup)	HTT, LOC109461479 +1 more	Microsatellite (inframe_insertion)	See cases	GBenign
Select item 1687507	NM_001388492.1(HTT):c.54GCA[40] (p.Gln18_Gln38dup)	HTT, LOC109461479 +1 more	Microsatellite (inframe_insertion)	Huntington disease	GLikely pathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 1674520	NM_001388492.1(HTT):c.889+14A>G	HTT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674233	NM_001388492.1(HTT):c.7062G>A (p.Lys2354=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672812	NM_001388492.1(HTT):c.6321G>A (p.Gln2107=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671881	NM_001388492.1(HTT):c.748-5C>T	HTT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671702	NM_001388492.1(HTT):c.4638C>G (p.Val1546=)	HTT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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