Related gene-specific medical variations for Gene (Select 3292) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284848	NM_000413.4(HSD17B1):c.283G>C (p.Gly95Arg)	HSD17B1, HSD17B1-AS1 (G95R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3284847	NM_000413.4(HSD17B1):c.278G>C (p.Gly93Ala)	HSD17B1, HSD17B1-AS1 (G93A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3284846	NM_000413.4(HSD17B1):c.61G>T (p.Val21Leu)	HSD17B1, HSD17B1-AS1 (V21L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3284845	NM_000413.4(HSD17B1):c.845G>A (p.Arg282Gln)	HSD17B1, HSD17B1-AS1 (R283Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3284844	NM_000413.4(HSD17B1):c.824A>G (p.Asn275Ser)	HSD17B1, HSD17B1-AS1 (N275S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3107089	NM_000413.4(HSD17B1):c.823A>G (p.Asn275Asp)	HSD17B1, HSD17B1-AS1 (N275D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3107088	NM_000413.4(HSD17B1):c.763T>A (p.Phe255Ile)	HSD17B1, HSD17B1-AS1 (F255I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3107087	NM_000413.4(HSD17B1):c.761A>C (p.Tyr254Ser)	HSD17B1, HSD17B1-AS1 (Y254S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3107086	NM_000413.4(HSD17B1):c.61G>C (p.Val21Leu)	HSD17B1, HSD17B1-AS1 (V21L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3107085	NM_000413.4(HSD17B1):c.605A>T (p.Glu202Val)	HSD17B1, HSD17B1-AS1 (E203V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3107084	NM_000413.4(HSD17B1):c.511G>A (p.Ala171Thr)	HSD17B1, HSD17B1-AS1 (A171T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3107083	NM_000413.4(HSD17B1):c.133C>G (p.Arg45Gly)	HSD17B1, HSD17B1-AS1 (R45G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GLikely benign
Select item 2395405	NM_000413.4(HSD17B1):c.755T>G (p.Leu252Arg)	HSD17B1, HSD17B1-AS1 (L252R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2320388	NM_000413.4(HSD17B1):c.794G>A (p.Arg265Gln)	HSD17B1, HSD17B1-AS1 (R266Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 2276591	NM_000413.4(HSD17B1):c.199G>A (p.Val67Ile)	HSD17B1, HSD17B1-AS1 (V67I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2265862	NM_000413.4(HSD17B1):c.582G>A (p.Met194Ile)	HSD17B1, HSD17B1-AS1 (M194I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2262856	NM_000413.4(HSD17B1):c.310G>C (p.Gly104Arg)	HSD17B1, HSD17B1-AS1 (G104R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 771028	NM_000413.4(HSD17B1):c.718-8C>T	HSD17B1, HSD17B1-AS1	Single nucleotide variant	not provided	GBenign
Select item 768886	NM_000413.4(HSD17B1):c.702T>C (p.Pro234=)	HSD17B1, HSD17B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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Links from Gene

Items: 32