HSD17B3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 217298	GRCh37/hg19 9q22.32(97579146-99280739)x1	FANCC, HABP4 +94 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 59904	GRCh38/hg38 9q22.32-22.33(chr9:96094968-96620662)x3	CDC14B, HABP4 +32 more	Copy number gain	See cases	GPathogenic
Select item 1219146	NC_000009.12:g.96235172G>A	HSD17B3	Single nucleotide variant	not provided	GLikely benign
Select item 912335	NM_000197.2(HSD17B3):c.*148C>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (3 prime UTR variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 912336	NM_000197.2(HSD17B3):c.*1C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (3 prime UTR variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 3034067	NM_000197.2(HSD17B3):c.928A>C (p.Arg310=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	HSD17B3-related disorder	GLikely benign
Select item 1979770	NM_000197.2(HSD17B3):c.923A>C (p.Lys308Thr)	HSD17B3, SLC35D2-HSD17B3 (K308T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052231	NM_000197.2(HSD17B3):c.922A>T (p.Lys308Ter)	HSD17B3, SLC35D2-HSD17B3 (K308*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3000848	NM_000197.2(HSD17B3):c.894C>T (p.His298=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 367679	NM_000197.2(HSD17B3):c.880C>T (p.Leu294=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2840377	NM_000197.2(HSD17B3):c.873C>T (p.Phe291=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 255511	NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser)	HSD17B3, SLC35D2-HSD17B3 (G289S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2904190	NM_000197.2(HSD17B3):c.864C>T (p.Ser288=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2735298	NM_000197.2(HSD17B3):c.852G>A (p.Trp284Ter)	HSD17B3, SLC35D2-HSD17B3 (W284*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2794207	NM_000197.2(HSD17B3):c.851G>A (p.Trp284Ter)	HSD17B3, SLC35D2-HSD17B3 (W284*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2991084	NM_000197.2(HSD17B3):c.846G>C (p.Pro282=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2900512	NM_000197.2(HSD17B3):c.846G>A (p.Pro282=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 265484	NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu)	HSD17B3, SLC35D2-HSD17B3 (P282L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2783380	NM_000197.2(HSD17B3):c.840G>A (p.Leu280=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2710983	NM_000197.2(HSD17B3):c.837C>T (p.Ser279=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2803912	NM_000197.2(HSD17B3):c.831T>C (p.Phe277=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2819694	NM_000197.2(HSD17B3):c.828C>T (p.Gly276=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1449786	NM_000197.2(HSD17B3):c.824C>T (p.Ala275Val)	HSD17B3, SLC35D2-HSD17B3 (A275V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780660	NM_000197.2(HSD17B3):c.823-11C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824887	NM_000197.2(HSD17B3):c.823-12T>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863134	NM_000197.2(HSD17B3):c.823-16C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220642	NM_000197.2(HSD17B3):c.823-67_823-59del	HSD17B3, SLC35D2-HSD17B3	Deletion (intron variant)	not provided	GBenign
Select item 1273772	NM_000197.2(HSD17B3):c.822+285G>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253389	NM_000197.2(HSD17B3):c.822+186C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271367	NM_000197.2(HSD17B3):c.822+155G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204892	NM_000197.2(HSD17B3):c.822+39G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020381	NM_000197.2(HSD17B3):c.822+15C>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967728	NM_000197.2(HSD17B3):c.822+14T>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011843	NM_000197.2(HSD17B3):c.822+11A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799296	NM_000197.2(HSD17B3):c.822+1G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2804125	NM_000197.2(HSD17B3):c.819C>A (p.Ile273=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3012776	NM_000197.2(HSD17B3):c.810C>G (p.Ala270=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 720400	NM_000197.2(HSD17B3):c.804C>T (p.Cys268=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 4881	NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr)	HSD17B3, SLC35D2-HSD17B3 (C268Y)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency	GPathogenic
Select item 2998160	NM_000197.2(HSD17B3):c.799G>A (p.Gly267Ser)	HSD17B3, SLC35D2-HSD17B3 (G267S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2697079	NM_000197.2(HSD17B3):c.774T>C (p.Tyr258=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2881732	NM_000197.2(HSD17B3):c.766T>C (p.Leu256=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2735299	NM_000197.2(HSD17B3):c.761_762del (p.Glu254fs)	HSD17B3, SLC35D2-HSD17B3 (E254fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3008161	NM_000197.2(HSD17B3):c.735C>T (p.Thr245=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2870218	NM_000197.2(HSD17B3):c.735C>A (p.Thr245=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2200699	NM_000197.2(HSD17B3):c.729_735del (p.Ile244fs)	HSD17B3, SLC35D2-HSD17B3 (I244fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2432537	NM_000197.2(HSD17B3):c.709A>G (p.Lys237Glu)	HSD17B3, SLC35D2-HSD17B3 (K237E)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 2883336	NM_000197.2(HSD17B3):c.708A>G (p.Thr236=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 4873	NM_000197.2(HSD17B3):c.703A>G (p.Met235Val)	HSD17B3, SLC35D2-HSD17B3 (M235V)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency	GPathogenic
Select item 2851961	NM_000197.2(HSD17B3):c.702A>G (p.Ala234=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1989639	NM_000197.2(HSD17B3):c.696G>A (p.Ser232=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 4872	NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu)	HSD17B3, SLC35D2-HSD17B3 (S232L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2991547	NM_000197.2(HSD17B3):c.684A>G (p.Pro228=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2832037	NM_000197.2(HSD17B3):c.681C>G (p.Thr227=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1202595	NM_000197.2(HSD17B3):c.679A>G (p.Thr227Ala)	HSD17B3, SLC35D2-HSD17B3 (T227A)	Single nucleotide variant (missense variant)	Disorder of sexual differentiation	GPathogenic
Select item 2778260	NM_000197.2(HSD17B3):c.673-5T>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993258	NM_000197.2(HSD17B3):c.673-7G>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717657	NM_000197.2(HSD17B3):c.673-7G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978317	NM_000197.2(HSD17B3):c.673-8C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009800	NM_000197.2(HSD17B3):c.673-9C>G	SLC35D2-HSD17B3, HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756328	NM_000197.2(HSD17B3):c.673-10C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697144	NM_000197.2(HSD17B3):c.673-10C>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968479	NM_000197.2(HSD17B3):c.673-12T>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879718	NM_000197.2(HSD17B3):c.673-20G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291003	NM_000197.2(HSD17B3):c.673-75G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255510	NM_000197.2(HSD17B3):c.672+33A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2966889	NM_000197.2(HSD17B3):c.672+19G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807884	NM_000197.2(HSD17B3):c.672+1G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2702594	NM_000197.2(HSD17B3):c.672+1G>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1478648	NM_000197.2(HSD17B3):c.672G>T (p.Gln224His)	HSD17B3, SLC35D2-HSD17B3 (Q224H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735655	NM_000197.2(HSD17B3):c.663_664insCAGGTGAGGTGGGCAGCTGTGGAGTCCTTGTCATCGTCCAGGTGAGGTGGGCAGCTGTGGAGTCCTTGTC (p.Ile222delinsGlnValArgTrpAlaAlaValGluSerLeuSerSerSerArgTer)	HSD17B3, SLC35D2-HSD17B3	Insertion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 913467	NM_000197.2(HSD17B3):c.663C>T (p.Val221=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440772	NM_000197.2(HSD17B3):c.645A>T (p.Glu215Asp)	HSD17B3, SLC35D2-HSD17B3 (E215D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 913468	NM_000197.2(HSD17B3):c.641A>G (p.Glu214Gly)	HSD17B3, SLC35D2-HSD17B3 (E214G)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2776043	NM_000197.2(HSD17B3):c.639A>G (p.Gln213=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968733	NM_000197.2(HSD17B3):c.636G>C (p.Leu212=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2763562	NM_000197.2(HSD17B3):c.636G>T (p.Leu212=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2482188	NM_000197.2(HSD17B3):c.635T>G (p.Leu212Arg)	HSD17B3, SLC35D2-HSD17B3 (L212R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2850674	NM_000197.2(HSD17B3):c.633C>G (p.Ala211=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2766889	NM_000197.2(HSD17B3):c.633C>T (p.Ala211=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3002973	NM_000197.2(HSD17B3):c.621A>G (p.Ala207=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 741127	NM_000197.2(HSD17B3):c.619G>A (p.Ala207Thr)	SLC35D2-HSD17B3, HSD17B3 (A207T)	Single nucleotide variant (missense variant)	HSD17B3-related disorder +1 more	GLikely benign
Select item 2720903	NM_000197.2(HSD17B3):c.618C>T (p.Cys206=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2768954	NM_000197.2(HSD17B3):c.615G>A (p.Val205=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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