"Ambry Genetics"[submitter] AND "HSD17B2"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2527055	NM_002153.3(HSD17B2):c.108C>A (p.Ser36Arg)	HSD17B2 (S36R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2283818	NM_002153.3(HSD17B2):c.115G>A (p.Val39Ile)	HSD17B2 (V39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359123	NM_002153.3(HSD17B2):c.168G>C (p.Trp56Cys)	HSD17B2 (W56C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284860	NM_002153.3(HSD17B2):c.256C>G (p.Leu86Val)	HSD17B2 (L86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525527	NM_002153.3(HSD17B2):c.276C>T (p.Cys92=)	HSD17B2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2373843	NM_002153.3(HSD17B2):c.298A>C (p.Lys100Gln)	HSD17B2 (K100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455550	NM_002153.3(HSD17B2):c.323C>G (p.Thr108Arg)	HSD17B2 (T108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357232	NM_002153.3(HSD17B2):c.323C>T (p.Thr108Met)	HSD17B2 (T108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369767	NM_002153.3(HSD17B2):c.334G>A (p.Gly112Arg)	HSD17B2 (G112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294668	NM_002153.3(HSD17B2):c.389C>T (p.Pro130Leu)	HSD17B2 (P130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219965	NM_002153.3(HSD17B2):c.392G>A (p.Arg131His)	HSD17B2 (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107116	NM_002153.3(HSD17B2):c.394C>A (p.Leu132Ile)	HSD17B2 (L132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244579	NM_002153.3(HSD17B2):c.453G>C (p.Lys151Asn)	HSD17B2 (K151N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379171	NM_002153.3(HSD17B2):c.463A>G (p.Met155Val)	HSD17B2 (M155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406798	NM_002153.3(HSD17B2):c.465G>A (p.Met155Ile)	HSD17B2 (M155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234850	NM_002153.3(HSD17B2):c.521C>T (p.Pro174Leu)	HSD17B2, LOC126862416 (P174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331650	NM_002153.3(HSD17B2):c.523A>T (p.Thr175Ser)	HSD17B2, LOC126862416 (T175S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303782	NM_002153.3(HSD17B2):c.535C>T (p.Leu179Phe)	HSD17B2, LOC126862416 (L179F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284858	NM_002153.3(HSD17B2):c.566T>C (p.Met189Thr)	LOC126862416, HSD17B2 (M189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107117	NM_002153.3(HSD17B2):c.596T>C (p.Val199Ala)	HSD17B2, LOC126862416 (V199A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454200	NM_002153.3(HSD17B2):c.612G>C (p.Leu204Phe)	HSD17B2, LOC126862416 (L204F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107119	NM_002153.3(HSD17B2):c.654C>G (p.Ser218Arg)	HSD17B2, LOC126862416 (S218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570166	NM_002153.3(HSD17B2):c.688G>A (p.Ala230Thr)	HSD17B2 (A230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593786	NM_002153.3(HSD17B2):c.734T>A (p.Val245Asp)	HSD17B2 (V245D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107120	NM_002153.3(HSD17B2):c.785C>T (p.Pro262Leu)	HSD17B2 (P262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604776	NM_002153.3(HSD17B2):c.790G>T (p.Gly264Cys)	HSD17B2 (G264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402958	NM_002153.3(HSD17B2):c.796C>G (p.Leu266Val)	HSD17B2 (L266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107121	NM_002153.3(HSD17B2):c.848T>A (p.Ile283Asn)	HSD17B2 (I283N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107122	NM_002153.3(HSD17B2):c.865G>A (p.Ala289Thr)	HSD17B2 (A289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592189	NM_002153.3(HSD17B2):c.865G>T (p.Ala289Ser)	HSD17B2 (A289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311759	NM_002153.3(HSD17B2):c.886G>A (p.Gly296Ser)	HSD17B2 (G296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601523	NM_002153.3(HSD17B2):c.891G>C (p.Gln297His)	HSD17B2 (Q297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286642	NM_002153.3(HSD17B2):c.893A>G (p.Asp298Gly)	HSD17B2 (D298G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284857	NM_002153.3(HSD17B2):c.959C>T (p.Pro320Leu)	HSD17B2 (P320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107124	NM_002153.3(HSD17B2):c.991G>A (p.Ala331Thr)	HSD17B2 (A331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614031	NM_002153.3(HSD17B2):c.992C>A (p.Ala331Glu)	HSD17B2 (A331E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284859	NM_002153.3(HSD17B2):c.998G>C (p.Ser333Thr)	HSD17B2 (S333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107115	NM_002153.3(HSD17B2):c.1009T>C (p.Tyr337His)	HSD17B2 (Y337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617110	NM_002153.3(HSD17B2):c.1030G>A (p.Ala344Thr)	HSD17B2 (A344T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 39