Related gene-specific medical variations for Gene (Select 3064) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 29

	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 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 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 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 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 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 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 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 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 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 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 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 599433	NM_001388492.1(HTT):c.123GCC[8] (p.Pro49dup)	HTT, LOC129929027	Microsatellite (inframe_insertion)	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 402952	NM_001388492.1(HTT):c.105_106del (p.Gln36fs)	HTT, LOC109461479 +1 more (Q36fs)	Deletion (frameshift variant)	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 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 409	NC_000004.11:g.3076606GCA[40_?]	HTT, LOC109461479 +1 more	Microsatellite	Huntington disease	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 29