ClinVar for Gene (Select 3293) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338132	NM_000197.2(HSD17B3):c.202-18259A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	Sex development disorder	GUncertain significance
Select item 3245282	NC_000009.11:g.(?_99060678)_(99060764_?)dup	HSD17B3	Duplication	not provided	GLikely pathogenic
Select item 3245281	NC_000009.11:g.(?_99064213)_(99064386_?)del	HSD17B3	Deletion	not provided	GPathogenic
Select item 3107126	NM_000197.2(HSD17B3):c.40C>A (p.Leu14Met)	HSD17B3, SLC35D2-HSD17B3 (L14M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107125	NM_000197.2(HSD17B3):c.10G>A (p.Val4Ile)	HSD17B3, SLC35D2-HSD17B3 (V4I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064921	NM_000197.2(HSD17B3):c.16del (p.Glu6fs)	HSD17B3, SLC35D2-HSD17B3 (E6fs)	Deletion (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3062275	NM_000197.2(HSD17B3):c.111_118del (p.Lys37fs)	HSD17B3, SLC35D2-HSD17B3 (K37fs)	Deletion (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 3042401	NM_000197.2(HSD17B3):c.154+6G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	HSD17B3-related disorder	GLikely benign
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 3023734	NM_000197.2(HSD17B3):c.154+20C>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 3013053	NM_000197.2(HSD17B3):c.234T>A (p.Ile78=)	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 3012298	NM_000197.2(HSD17B3):c.453+19G>A	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 3009800	NM_000197.2(HSD17B3):c.673-9C>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009657	NM_000197.2(HSD17B3):c.277+14dup	HSD17B3, SLC35D2-HSD17B3	Duplication (intron variant)	not provided	GBenign
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 3004910	NM_000197.2(HSD17B3):c.385+13C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003363	NM_000197.2(HSD17B3):c.154+14C>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	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 3001486	NM_000197.2(HSD17B3):c.339C>T (p.Tyr113=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 3000789	NM_000197.2(HSD17B3):c.490-20C>A	HSD17B3, HSD17B3-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998530	NM_000197.2(HSD17B3):c.201+8A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998382	NM_000197.2(HSD17B3):c.607-4C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2997446	NM_000197.2(HSD17B3):c.278-7C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997245	NM_000197.2(HSD17B3):c.385+13C>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997136	NM_000197.2(HSD17B3):c.609G>T (p.Ala203=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2995270	NM_000197.2(HSD17B3):c.277+14del	HSD17B3, SLC35D2-HSD17B3	Deletion (intron variant)	not provided	GLikely benign
Select item 2994498	NM_000197.2(HSD17B3):c.386-15G>A	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 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 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 2987723	NM_000197.2(HSD17B3):c.606+10G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986310	NM_000197.2(HSD17B3):c.155-14C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984675	NM_000197.2(HSD17B3):c.606+17C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980898	NM_000197.2(HSD17B3):c.525-11T>C	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 2978128	NM_000197.2(HSD17B3):c.192C>T (p.Tyr64=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2978086	NM_000197.2(HSD17B3):c.525-14del	HSD17B3, SLC35D2-HSD17B3	Deletion (intron variant)	not provided	GLikely benign
Select item 2975190	NM_000197.2(HSD17B3):c.385+16G>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974062	NM_000197.2(HSD17B3):c.6G>A (p.Gly2=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2969610	NM_000197.2(HSD17B3):c.199G>T (p.Glu67Ter)	HSD17B3, SLC35D2-HSD17B3 (E67*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2969221	NM_000197.2(HSD17B3):c.588C>A (p.Ser196=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2968955	NM_000197.2(HSD17B3):c.453+14C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	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 2968479	NM_000197.2(HSD17B3):c.673-12T>C	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 2967684	NM_000197.2(HSD17B3):c.66G>A (p.Ala22=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2963115	NM_000197.2(HSD17B3):c.201+14C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962739	NM_000197.2(HSD17B3):c.278-16G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960828	NM_000197.2(HSD17B3):c.525-13C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957445	NM_000197.2(HSD17B3):c.480C>T (p.Ser160=)	HSD17B3, HSD17B3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2957100	NM_000197.2(HSD17B3):c.396C>T (p.Val132=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2909723	NM_000197.2(HSD17B3):c.396C>G (p.Val132=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely 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 2903790	NM_000197.2(HSD17B3):c.386-5G>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903584	NM_000197.2(HSD17B3):c.360T>G (p.Leu120=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2900944	NM_000197.2(HSD17B3):c.277+9C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	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 2899394	NM_000197.2(HSD17B3):c.171C>T (p.Gly57=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2898089	NM_000197.2(HSD17B3):c.189G>A (p.Ala63=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2894043	NM_000197.2(HSD17B3):c.385+10T>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887896	NM_000197.2(HSD17B3):c.600T>A (p.Ala200=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2887415	NM_000197.2(HSD17B3):c.202-9C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884763	NM_000197.2(HSD17B3):c.105C>A (p.Tyr35Ter)	HSD17B3, SLC35D2-HSD17B3 (Y35*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2884604	NM_000197.2(HSD17B3):c.383T>G (p.Leu128Ter)	HSD17B3, SLC35D2-HSD17B3 (L128*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
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 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 2880269	NM_000197.2(HSD17B3):c.490-14G>A	HSD17B3, HSD17B3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	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 2879341	NM_000197.2(HSD17B3):c.278-19dup	HSD17B3, SLC35D2-HSD17B3	Duplication (intron variant)	not provided	GBenign
Select item 2878615	NM_000197.2(HSD17B3):c.202-12T>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873681	NM_000197.2(HSD17B3):c.154+8A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870218	NM_000197.2(HSD17B3):c.735C>A (p.Thr245=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2868887	NM_000197.2(HSD17B3):c.261C>T (p.Ala87=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2866986	NM_000197.2(HSD17B3):c.154+9G>T	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 2863115	NM_000197.2(HSD17B3):c.201+17G>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861126	NM_000197.2(HSD17B3):c.114T>C (p.Val38=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2859767	NM_000197.2(HSD17B3):c.489+7G>C	HSD17B3, HSD17B3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2856573	NM_000197.2(HSD17B3):c.555T>G (p.Ser185=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2854372	NM_000197.2(HSD17B3):c.524+20A>C	HSD17B3, HSD17B3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 2849727	NM_000197.2(HSD17B3):c.327A>G (p.Lys109=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2848816	NM_000197.2(HSD17B3):c.154+1G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2846624	NM_000197.2(HSD17B3):c.278-14del	HSD17B3, SLC35D2-HSD17B3	Deletion (intron variant)	not provided	GLikely benign
Select item 2845942	NM_000197.2(HSD17B3):c.278-13G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844887	NM_000197.2(HSD17B3):c.489+11A>T	HSD17B3, HSD17B3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2841712	NM_000197.2(HSD17B3):c.606+14T>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841088	NM_000197.2(HSD17B3):c.441G>T (p.Pro147=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2838828	NM_000197.2(HSD17B3):c.386-13T>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838770	NM_000197.2(HSD17B3):c.489+8A>G	HSD17B3, HSD17B3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2834458	NM_000197.2(HSD17B3):c.155-15_155-12dup	HSD17B3, SLC35D2-HSD17B3	Duplication (intron variant)	not provided	GLikely benign

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