ClinVar for MedGen (Select 5654) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359130	NM_001388492.1(HTT):c.54GCA[30] (p.Gln38_Pro39insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	HTT	Microsatellite (inframe_insertion)	Huntington disease	GPathogenic
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 1687507	NM_001388492.1(HTT):c.54GCA[40] (p.Gln18_Gln38dup)	HTT, LOC109461479 +1 more	Microsatellite (inframe_insertion)	Huntington disease	GLikely pathogenic
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
Select item 1599166	NM_001388492.1(HTT):c.7765+10G>A	HTT	Single nucleotide variant (intron variant)	Huntington disease +2 more	GBenign/Likely benign
Select item 1405485	NM_001388492.1(HTT):c.6250G>A (p.Gly2084Arg)	HTT (G2084R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355049	NM_001388492.1(HTT):c.7498G>A (p.Val2500Ile)	HTT (V2500I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 982633	NM_001388492.1(HTT):c.8903G>A (p.Gly2968Asp)	HTT (G2970D +1 more)	Single nucleotide variant (missense variant)	Lopes-Maciel-Rodan syndrome +1 more	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 812592	NC_000004.11:g.3076606GCA[27_35]	HTT	Microsatellite	Huntington disease	Gother
Select item 812591	NC_000004.11:g.3076606GCA[(?_26)]	HTT	Microsatellite	Huntington disease	GBenign
Select item 812582	NC_000004.11:g.3076606GCA[36_39]	HTT	Microsatellite	Huntington disease	Gother
Select item 417742	NM_001388492.1(HTT):c.2108C>T (p.Pro703Leu)	HTT (P705L)	Single nucleotide variant (missense variant)	Huntington disease +1 more	GUncertain significance
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