ClinVar for MedGen (Select 120626) - ClinVar

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Items: 47

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25772381.	NM_000197.2(HSD17B3):c.277G>A (p.Glu93Lys) GRCh37: Chr9:99017150 GRCh38: Chr9:96254868	HSD17B3, SLC35D2-HSD17B3	E93K	Testosterone 17-beta-dehydrogenase deficiency	Pathogenic (Jul 17, 2023)	criteria provided, single submitter
Select item 25724092.	NM_000197.2(HSD17B3):c.376G>A (p.Gly126Arg) GRCh37: Chr9:99015094 GRCh38: Chr9:96252812	SLC35D2-HSD17B3, HSD17B3	G126R	Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance	criteria provided, single submitter
Select item 24442463.	NM_000197.2(HSD17B3):c.257_265del (p.Glu86_Ile88del) GRCh37: Chr9:99017162-99017170 GRCh38: Chr9:96254880-96254888	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24407824.	NM_000197.2(HSD17B3):c.65dup (p.Lys23fs) GRCh37: Chr9:99064321-99064322 GRCh38: Chr9:96302039-96302040	HSD17B3, SLC35D2-HSD17B3	K23fs	Testosterone 17-beta-dehydrogenase deficiency	Likely pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 24407725.	NM_000197.2(HSD17B3):c.645A>T (p.Glu215Asp) GRCh37: Chr9:99006638 GRCh38: Chr9:96244356	HSD17B3, SLC35D2-HSD17B3	E215D	Testosterone 17-beta-dehydrogenase deficiency	Likely pathogenic (Dec 14, 2021)	criteria provided, single submitter
Select item 24325376.	NM_000197.2(HSD17B3):c.709A>G (p.Lys237Glu) GRCh37: Chr9:99003153 GRCh38: Chr9:96240871	HSD17B3, SLC35D2-HSD17B3	K237E	Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Sep 4, 2020)	criteria provided, single submitter
Select item 13416967.	NM_000197.2(HSD17B3):c.385+5G>A GRCh37: Chr9:99015080 GRCh38: Chr9:96252798	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance	criteria provided, single submitter
Select item 9138508.	NM_000197.2(HSD17B3):c.278-6G>C GRCh37: Chr9:99015198 GRCh38: Chr9:96252916	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9138499.	NM_000197.2(HSD17B3):c.328G>T (p.Asp110Tyr) GRCh37: Chr9:99015142 GRCh38: Chr9:96252860	HSD17B3, SLC35D2-HSD17B3	D110Y	Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 91347310.	NM_000197.2(HSD17B3):c.386-5G>A GRCh37: Chr9:99013772 GRCh38: Chr9:96251490	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91347211.	NM_000197.2(HSD17B3):c.435C>T (p.Asn145=) GRCh37: Chr9:99013718 GRCh38: Chr9:96251436	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91347112.	NM_000197.2(HSD17B3):c.441G>A (p.Pro147=) GRCh37: Chr9:99013712 GRCh38: Chr9:96251430	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91347013.	NM_000197.2(HSD17B3):c.490-4G>T GRCh37: Chr9:99008876 GRCh38: Chr9:96246594	HSD17B3, HSD17B3-AS1, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91346914.	NM_000197.2(HSD17B3):c.540C>T (p.Ile180=) GRCh37: Chr9:99007693 GRCh38: Chr9:96245411	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91346815.	NM_000197.2(HSD17B3):c.641A>G (p.Glu214Gly) GRCh37: Chr9:99006642 GRCh38: Chr9:96244360	HSD17B3, SLC35D2-HSD17B3	E214G	Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91346716.	NM_000197.2(HSD17B3):c.663C>T (p.Val221=) GRCh37: Chr9:99006620 GRCh38: Chr9:96244338	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Feb 12, 2018)	criteria provided, single submitter
Select item 91233617.	NM_000197.2(HSD17B3):c.*1C>T GRCh37: Chr9:98997741 GRCh38: Chr9:96235459	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 91233518.	NM_000197.2(HSD17B3):c.*148C>A GRCh37: Chr9:98997594 GRCh38: Chr9:96235312	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 72040019.	NM_000197.2(HSD17B3):c.804C>T (p.Cys268=) GRCh37: Chr9:99003058 GRCh38: Chr9:96240776	HSD17B3, SLC35D2-HSD17B3		not provided, Testosterone 17-beta-dehydrogenase deficiency	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70856720.	NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) GRCh37: Chr9:99064254 GRCh38: Chr9:96301972	HSD17B3, SLC35D2-HSD17B3	R45W	See cases, HSD17B3-related condition, Testosterone 17-beta-dehydrogenase deficiency, not provided	Conflicting interpretations of pathogenicity (Aug 17, 2023)	criteria provided, conflicting interpretations
Select item 49276121.	NM_000197.2(HSD17B3):c.278-1G>C GRCh37: Chr9:99015193 GRCh38: Chr9:96252911	HSD17B3, SLC35D2-HSD17B3		Inborn genetic diseases, not provided, Testosterone 17-beta-dehydrogenase deficiency	Pathogenic (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43547322.	NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr) GRCh37: Chr9:99017206 GRCh38: Chr9:96254924	HSD17B3, SLC35D2-HSD17B3	N74T	Testosterone 17-beta-dehydrogenase deficiency	Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43547223.	NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val) GRCh37: Chr9:99007634 GRCh38: Chr9:96245352	HSD17B3, SLC35D2-HSD17B3	A200V	Testosterone 17-beta-dehydrogenase deficiency, not provided	Conflicting interpretations of pathogenicity (Oct 26, 2021)	criteria provided, conflicting interpretations
Select item 42478124.	NM_000197.1(HSD17B3):c.[194C>T];[239G>A]			Testosterone 17-beta-dehydrogenase deficiency	Likely pathogenic (Apr 16, 2013)	criteria provided, single submitter
Select item 36768925.	NM_000197.2(HSD17B3):c.-34C>T GRCh37: Chr9:99064420 GRCh38: Chr9:96302138	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36768826.	NM_000197.2(HSD17B3):c.-29A>G GRCh37: Chr9:99064415 GRCh38: Chr9:96302133	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency, not provided	Benign (Nov 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36768727.	NM_000197.2(HSD17B3):c.-10G>C GRCh37: Chr9:99064396 GRCh38: Chr9:96302114	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency, not provided	Benign (Sep 4, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36768628.	NM_000197.2(HSD17B3):c.-6G>A GRCh37: Chr9:99064392 GRCh38: Chr9:96302110	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36768529.	NM_000197.2(HSD17B3):c.9C>T (p.Asp3=) GRCh37: Chr9:99064378 GRCh38: Chr9:96302096	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36768430.	NM_000197.2(HSD17B3):c.91G>A (p.Val31Ile) GRCh37: Chr9:99064296 GRCh38: Chr9:96302014	HSD17B3, SLC35D2-HSD17B3	V31I	Testosterone 17-beta-dehydrogenase deficiency, not provided	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36768331.	NM_000197.2(HSD17B3):c.195G>A (p.Ser65=) GRCh37: Chr9:99060704 GRCh38: Chr9:96298422	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency, not provided	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36768232.	NM_000197.2(HSD17B3):c.199G>A (p.Glu67Lys) GRCh37: Chr9:99060700 GRCh38: Chr9:96298418	HSD17B3, SLC35D2-HSD17B3	E67K	Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36768133.	NM_000197.2(HSD17B3):c.333C>T (p.Asp111=) GRCh37: Chr9:99015137 GRCh38: Chr9:96252855	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency, not provided	Benign/Likely benign (Oct 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36768034.	NM_000197.2(HSD17B3):c.489+9T>C GRCh37: Chr9:99012024 GRCh38: Chr9:96249742	HSD17B3, HSD17B3-AS1, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36767935.	NM_000197.2(HSD17B3):c.880C>T (p.Leu294=) GRCh37: Chr9:98997795 GRCh38: Chr9:96235513	HSD17B3, SLC35D2-HSD17B3		Testosterone 17-beta-dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 25551136.	NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) GRCh37: Chr9:98997810 GRCh38: Chr9:96235528	HSD17B3, SLC35D2-HSD17B3	G289S	not specified, not provided, Testosterone 17-beta-dehydrogenase deficiency	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25550737.	NM_000197.2(HSD17B3):c.-39A>G GRCh37: Chr9:99064425 GRCh38: Chr9:96302143	SLC35D2-HSD17B3, HSD17B3		not specified, not provided, Testosterone 17-beta-dehydrogenase deficiency	Benign (Aug 25, 2018)	criteria provided, multiple submitters, no conflicts
Select item 20858738.	NM_000197.2(HSD17B3):c.277+4A>T GRCh37: Chr9:99017146 GRCh38: Chr9:96254864	HSD17B3, SLC35D2-HSD17B3		Inborn genetic diseases, not provided, Testosterone 17-beta-dehydrogenase deficiency	Pathogenic (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 488139.	NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr) GRCh37: Chr9:99003059 GRCh38: Chr9:96240777	HSD17B3, SLC35D2-HSD17B3	C268Y	Testosterone 17-beta-dehydrogenase deficiency	Pathogenic (Feb 1, 2001)	no assertion criteria provided
Select item 488040.	NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) GRCh37: Chr9:99013764 GRCh38: Chr9:96251482	HSD17B3, SLC35D2-HSD17B3	N130S	not provided	Likely pathogenic (Sep 28, 2020)	criteria provided, single submitter
Select item 487941.	NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr) GRCh37: Chr9:99060733 GRCh38: Chr9:96298451	HSD17B3, SLC35D2-HSD17B3	A56T	Testosterone 17-beta-dehydrogenase deficiency	Pathogenic (Aug 1, 1998)	no assertion criteria provided
Select item 487842.	NM_000197.2(HSD17B3):c.607-1G>A GRCh37: Chr9:99006677 GRCh38: Chr9:96244395	HSD17B3, SLC35D2-HSD17B3		not provided	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 487743.	NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) GRCh37: Chr9:99017189 GRCh38: Chr9:96254907	HSD17B3, SLC35D2-HSD17B3	R80W	not provided, Testosterone 17-beta-dehydrogenase deficiency	Pathogenic/Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 487544.	NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) GRCh37: Chr9:99006675 GRCh38: Chr9:96244393	HSD17B3, SLC35D2-HSD17B3	A203V	Inborn genetic diseases, not provided	Pathogenic (May 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 487445.	NM_000197.1(HSD17B3):c.239G>A GRCh37: Chr9:99017188 GRCh38: Chr9:96254906	HSD17B3, SLC35D2-HSD17B3	R80Q	not provided, Testosterone 17-beta-dehydrogenase deficiency	Pathogenic (Mar 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 487346.	NM_000197.2(HSD17B3):c.703A>G (p.Met235Val) GRCh37: Chr9:99003159 GRCh38: Chr9:96240877	HSD17B3, SLC35D2-HSD17B3	M235V	Testosterone 17-beta-dehydrogenase deficiency	Pathogenic (May 1, 1994)	no assertion criteria provided
Select item 487247.	NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu) GRCh37: Chr9:99003167 GRCh38: Chr9:96240885	HSD17B3, SLC35D2-HSD17B3	S232L	not provided, Testosterone 17-beta-dehydrogenase deficiency	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 47