"Ambry Genetics"[submitter] AND "HTT"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 521676	NM_001388492.1(HTT):c.1246C>T (p.Arg416Cys)	HTT (R418C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521677	NM_001388492.1(HTT):c.4451T>A (p.Val1484Glu)	HTT (V1486E +1 more)	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 2274568	NM_001388492.1(HTT):c.9020C>T (p.Pro3007Leu)	HTT (P3007L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance