"Ambry Genetics"[submitter] AND "HSD17B1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2313847	NM_000413.4(HSD17B1):c.7C>T (p.Arg3Cys)	HSD17B1, HSD17B1-AS1 (R3C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213133	NM_000413.4(HSD17B1):c.28G>A (p.Gly10Ser)	HSD17B1, HSD17B1-AS1 (G10S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553769	NM_000413.4(HSD17B1):c.54C>G (p.His18Gln)	HSD17B1, HSD17B1-AS1 (H18Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465324	NM_000413.4(HSD17B1):c.134G>A (p.Arg45Gln)	HSD17B1, HSD17B1-AS1 (R45Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2207059	NM_000413.4(HSD17B1):c.170C>A (p.Pro57Gln)	HSD17B1, HSD17B1-AS1 (P57Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276591	NM_000413.4(HSD17B1):c.199G>A (p.Val67Ile)	HSD17B1-AS1, HSD17B1 (V67I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323926	NM_000413.4(HSD17B1):c.227C>T (p.Ala76Val)	HSD17B1, HSD17B1-AS1 (A76V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241343	NM_000413.4(HSD17B1):c.251G>A (p.Arg84His)	HSD17B1, HSD17B1-AS1 (R84H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262856	NM_000413.4(HSD17B1):c.310G>C (p.Gly104Arg)	HSD17B1-AS1, HSD17B1 (G104R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531846	NM_000413.4(HSD17B1):c.454T>C (p.Phe152Leu)	HSD17B1, HSD17B1-AS1 (F152L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511122	NM_000413.4(HSD17B1):c.502G>C (p.Glu168Gln)	HSD17B1, HSD17B1-AS1 (E168Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265862	NM_000413.4(HSD17B1):c.582G>A (p.Met194Ile)	HSD17B1-AS1, HSD17B1 (M194I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593743	NM_000413.4(HSD17B1):c.631C>T (p.His211Tyr)	HSD17B1, HSD17B1-AS1 (H211Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395405	NM_000413.4(HSD17B1):c.755T>G (p.Leu252Arg)	HSD17B1-AS1, HSD17B1 (L252R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320388	NM_000413.4(HSD17B1):c.794G>A (p.Arg265Gln)	HSD17B1-AS1, HSD17B1 (R266Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469873	NM_000413.4(HSD17B1):c.833C>G (p.Thr278Ser)	HSD17B1, HSD17B1-AS1 (T278S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468104	NM_000413.4(HSD17B1):c.840G>C (p.Met280Ile)	HSD17B1, HSD17B1-AS1 (M280I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531420	NM_000413.4(HSD17B1):c.851T>C (p.Val284Ala)	HSD17B1, HSD17B1-AS1 (V285A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371407	NM_000413.4(HSD17B1):c.895G>C (p.Gly299Arg)	HSD17B1 (G300R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612029	NM_000413.4(HSD17B1):c.929C>T (p.Ala310Val)	HSD17B1 (A310V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485848	NM_000413.4(HSD17B1):c.931G>T (p.Gly311Trp)	HSD17B1 (G311W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 21