HTT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 155180	GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	ADD1, ADRA2C +279 more	Copy number loss	See cases	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 150615	GRCh38/hg38 4p16.3(chr4:36424-3974044)x1	ADD1, ADRA2C +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991977, LOC129991978 +283 more	Copy number gain	See cases	GPathogenic
Select item 150122	GRCh38/hg38 4p16.3(chr4:36424-3265531)x1	ADD1, ATP5ME +250 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 145401	GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	ADD1, ADRA2C +277 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57275	GRCh38/hg38 4p16.3(chr4:51519-3775116)x3	ADD1, ADRA2C +277 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147791	GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	ADD1, ATP5ME +274 more	Copy number loss	See cases	GPathogenic
Select item 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ATP5ME, CFAP99 +290 more	Copy number loss	See cases	GPathogenic
Select item 147562	GRCh38/hg38 4p16.3(chr4:72555-3561655)x1	ADD1, ATP5ME +271 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	ADD1, ADRA2C +313 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	ADD1, ADRA2C +323 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	ADD1, ADRA2C +322 more	Copy number loss	See cases	GPathogenic
Select item 57933	GRCh38/hg38 4p16.3(chr4:72555-3847154)x3	ADD1, ADRA2C +278 more	Copy number gain	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58014	GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	ADD1, ADRA2C +300 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	GPathogenic
Select item 154242	GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1	ADD1, CFAP99 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 149071	GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3	ADD1, ADRA2C +149 more	Copy number gain	See cases	GUncertain significance
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
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 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 1301634	NM_001388492.1(HTT):c.54GCA[22] (p.Gln36_Gln38dup)	HTT, LOC109461479 +1 more	Microsatellite (inframe_insertion)	Huntington disease	GUncertain significance
Select item 1174947	NM_001388492.1(HTT):c.54GCA[26] (p.Gln32_Gln38dup)	HTT, LOC109461479 +1 more	Microsatellite (inframe_insertion)	not specified +1 more	GBenign/Likely benign
Select item 1049703	NM_001388492.1(HTT):c.54GCA[27] (p.Gln31_Gln38dup)	HTT, LOC109461479 +1 more	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1328024	NM_001388492.1(HTT):c.58_110= (p.Gln20_Gln37=)	HTT, LOC109461479 +1 more	Microsatellite (no sequence alteration +1 more)	not specified +1 more	GBenign/Likely benign
Select item 31916	NM_002111.8(HTT):c.52CAG[36_39]	HTT, LOC109461479 +1 more	Microsatellite	Huntington disease	Gnot provided
Select item 31915	NM_002111.8(HTT):c.52CAG[27_35] (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	HTT, LOC109461479 +1 more	Microsatellite	Huntington disease	Gnot provided
Select item 21303	NM_002111.8(HTT):c.52CAG[?_25]	HTT, LOC109461479 +1 more	Microsatellite	Huntington disease	GBenign
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 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 982628	NM_001388492.1(HTT):c.54GCA[13] (p.Gln33_Gln38del)	HTT, LOC109461479 +1 more (Q31fs)	Deletion (inframe_deletion +1 more)	Huntington disease	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 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 402952	NM_001388492.1(HTT):c.105_106del (p.Gln36fs)	HTT, LOC109461479 +1 more (Q36fs)	Deletion (frameshift variant)	not specified	GBenign
Select item 402953	NM_001388492.1(HTT):c.54GCA[18] (p.Gln38del)	HTT, LOC109461479 +1 more (Q36fs +1 more)	Deletion (inframe_deletion +1 more)	not specified	GBenign
Select item 156708	NM_001388492.1(HTT):c.110A>C (p.Gln37Pro)	HTT, LOC109461479 +1 more (Q37P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 409	NC_000004.11:g.3076606GCA[40_?]	HTT, LOC109461479 +1 more	Microsatellite	Huntington disease	GPathogenic
Select item 599433	NM_001388492.1(HTT):c.123GCC[8] (p.Pro49dup)	HTT, LOC129929027	Microsatellite (inframe_insertion)	not specified	GBenign
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 3068981	NM_001388492.1(HTT):c.165G>T (p.Pro55=)	HTT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 1671647	NM_001388492.1(HTT):c.264-17_264-14del	HTT	Deletion (intron variant)	not provided	GLikely benign
Select item 1599722	NM_001388492.1(HTT):c.264-9dup	HTT	Duplication (intron variant)	not provided	GBenign
Select item 1544606	NM_001388492.1(HTT):c.282T>C (p.Ala94=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508919	NM_001388492.1(HTT):c.295C>G (p.Arg99Gly)	HTT (R101G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416729	NM_001388492.1(HTT):c.295C>T (p.Arg99Cys)	HTT (R99C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549932	NM_001388492.1(HTT):c.318A>C (p.Ile106=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1610584	NM_001388492.1(HTT):c.347+14G>A	HTT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1465167	NM_001388492.1(HTT):c.355C>T (p.Pro119Ser)	HTT (P121S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594817	NM_001388492.1(HTT):c.357A>G (p.Pro119=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377490	NM_001388492.1(HTT):c.385A>G (p.Met129Val)	HTT (M129V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510944	NM_001388492.1(HTT):c.410A>G (p.Asp137Gly)	HTT (D137G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358645	NM_001388492.1(HTT):c.433A>G (p.Met145Val)	HTT (M145V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1583530	NM_001388492.1(HTT):c.444C>T (p.Asp148=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669327	NM_001388492.1(HTT):c.468+11T>A	HTT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530595	NM_001388492.1(HTT):c.504C>T (p.Leu168=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1535304	NM_001388492.1(HTT):c.522T>A (p.Ile174=)	HTT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1635102	NM_001388492.1(HTT):c.528+7C>T	HTT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601065	NM_001388492.1(HTT):c.528+7C>G	HTT	Single nucleotide variant (intron variant)	not provided	GBenign

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