HSD17B1[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 771028	NM_000413.4(HSD17B1):c.718-8C>T	HSD17B1, HSD17B1-AS1	Single nucleotide variant	not provided	GBenign
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 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 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 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 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 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 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 2920771	NM_000413.4(HSD17B1):c.875CCGAGGCTGGGG[1] (p.292AEAG[1])	HSD17B1	Microsatellite (inframe_deletion +1 more)	not provided	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3107090	NM_000413.4(HSD17B1):c.961G>C (p.Gly321Arg)	HSD17B1 (G322R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107091	NM_000413.4(HSD17B1):c.967C>T (p.Pro323Ser)	HSD17B1 (P323S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422709	NC_000017.10:g.(?_40688291)_(40729741_?)dup	COASY, HSD17B1 +3 more	Duplication	Mucopolysaccharidosis, MPS-III-B +1 more	GUncertain significance
Select item 686402	GRCh37/hg19 17q21.2(chr17:40595473-40785031)x3	ATP6V0A1, COASY +6 more	Copy number gain	not provided	GUncertain significance
Select item 686203	GRCh37/hg19 17q21.2(chr17:40583927-40778487)x3	ATP6V0A1, COASY +6 more	Copy number gain	not provided	GUncertain significance
Select item 564446	GRCh37/hg19 17q21.2(chr17:40570771-40797461)x3	HSD17B1, NAGLU +7 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 393909	GRCh37/hg19 17q21.2(chr17:40690377-40705781)x3	HSD17B1, NAGLU	Copy number gain	See cases	GLikely benign

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Items: 43