ClinVar for Gene (Select 6716) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247148	NC_000002.11:g.(?_31805670)_(31805969_?)dup	SRD5A2	Duplication	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 3247147	NC_000002.11:g.(?_31758653)_(31758856_?)del	SRD5A2	Deletion	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 3247146	NC_000002.11:g.(?_31805670)_(31805969_?)del	SRD5A2	Deletion	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 3247145	NC_000002.11:g.(?_31751266)_(31805969_?)del	SRD5A2	Deletion	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 3169890	NM_000348.4(SRD5A2):c.195G>A (p.Ala65=)	SRD5A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3045745	NM_000348.4(SRD5A2):c.669C>G (p.Phe223Leu)	SRD5A2 (F223L)	Single nucleotide variant (missense variant)	SRD5A2-related disorder	GLikely benign
Select item 3035322	NM_000348.4(SRD5A2):c.*2G>A	SRD5A2	Single nucleotide variant (3 prime UTR variant)	SRD5A2-related disorder	GLikely benign
Select item 3016739	NM_000348.4(SRD5A2):c.504C>T (p.Arg168=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 3012621	NM_000348.4(SRD5A2):c.243G>T (p.Thr81=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 3012545	NM_000348.4(SRD5A2):c.615C>T (p.Ala205=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 3011865	NM_000348.4(SRD5A2):c.547+16C>A	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 3011559	NM_000348.4(SRD5A2):c.172C>T (p.Leu58=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 3005506	NM_000348.4(SRD5A2):c.548-8G>C	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 3001632	NM_000348.4(SRD5A2):c.282-11G>T	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 3001482	NM_000348.4(SRD5A2):c.264_265delinsTG (p.Leu89Val)	SRD5A2 (L89V)	Indel (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2997115	NM_000348.4(SRD5A2):c.281+13C>A	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2994728	NM_000348.4(SRD5A2):c.699-18T>C	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2983380	NM_000348.4(SRD5A2):c.282-18C>A	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2981595	NM_000348.4(SRD5A2):c.547+17C>T	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2976607	NM_000348.4(SRD5A2):c.99C>T (p.Tyr33=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2974927	NM_000348.4(SRD5A2):c.561G>C (p.Thr187=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2971424	NM_000348.4(SRD5A2):c.571G>A (p.Gly191Arg)	SRD5A2 (G191R)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 2970505	NM_000348.4(SRD5A2):c.93C>T (p.Ser31=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2962602	NM_000348.4(SRD5A2):c.81_94delCGCGAAGCCCTCCG (p.Ala28Leufs)	SRD5A2	Deletion (frameshift variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2961684	NM_000348.4(SRD5A2):c.54C>T (p.Val18=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2920194	NM_000348.4(SRD5A2):c.445+15C>G	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2916535	NM_000348.4(SRD5A2):c.548-6A>C	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2916449	NM_000348.4(SRD5A2):c.547+11C>G	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2916083	NM_000348.4(SRD5A2):c.445+18C>A	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2914830	NM_000348.4(SRD5A2):c.318T>C (p.Pro106=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2909224	NM_000348.4(SRD5A2):c.153C>T (p.Ala51=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2903813	NM_000348.4(SRD5A2):c.312del (p.Arg105fs)	SRD5A2 (R105fs)	Deletion (frameshift variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2903794	NM_000348.4(SRD5A2):c.510C>T (p.Leu170=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2902259	NM_000348.4(SRD5A2):c.535A>C (p.Arg179=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2897792	NM_000348.4(SRD5A2):c.699-20A>G	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2897077	NM_000348.4(SRD5A2):c.78C>T (p.Tyr26=)	SRD5A2	Single nucleotide variant (synonymous variant)	SRD5A2-related disorder +1 more	GLikely benign
Select item 2894626	NM_000348.4(SRD5A2):c.480C>T (p.Asn160=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2891470	NM_000348.4(SRD5A2):c.547+19C>T	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2887434	NM_000348.4(SRD5A2):c.492_493insGA (p.Tyr165fs)	SRD5A2 (Y165fs)	Insertion (frameshift variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2887241	NM_000348.4(SRD5A2):c.531C>T (p.Ser177=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2886450	NM_000348.4(SRD5A2):c.547+19C>G	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2884733	NM_000348.4(SRD5A2):c.698+20C>T	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2882755	NM_000348.4(SRD5A2):c.102del (p.Lys35fs)	SRD5A2 (K35fs)	Deletion (frameshift variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2879647	NM_000348.4(SRD5A2):c.19C>T (p.Gln7Ter)	SRD5A2 (Q7*)	Single nucleotide variant (nonsense)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2879556	NM_000348.4(SRD5A2):c.561G>A (p.Thr187=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2879525	NM_000348.4(SRD5A2):c.192C>G (p.Pro64=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2875938	NM_000348.4(SRD5A2):c.282-13del	SRD5A2	Deletion (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2872563	NM_000348.4(SRD5A2):c.281+16del	SRD5A2	Deletion (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2863404	NM_000348.4(SRD5A2):c.115_137del (p.Ser39fs)	SRD5A2 (S39fs)	Deletion (frameshift variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2863403	NM_000348.4(SRD5A2):c.139C>T (p.Leu47=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2862678	NM_000348.4(SRD5A2):c.431dup (p.Arg145fs)	SRD5A2 (R145fs)	Duplication (frameshift variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2858830	NM_000348.4(SRD5A2):c.446-4C>T	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2858235	NM_000348.4(SRD5A2):c.144del (p.Ala49fs)	SRD5A2 (A49fs)	Deletion (frameshift variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2855934	NM_000348.4(SRD5A2):c.747T>A (p.Leu249=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2854656	NM_000348.4(SRD5A2):c.321T>C (p.Tyr107=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2852414	NM_000348.4(SRD5A2):c.548-6A>T	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2850990	NM_000348.4(SRD5A2):c.92C>T (p.Ser31Phe)	SRD5A2 (S31F)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 2848819	NM_000348.4(SRD5A2):c.312G>A (p.Gly104=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2841590	NM_000348.4(SRD5A2):c.408C>T (p.Tyr136=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2822446	NM_000348.4(SRD5A2):c.282-11G>A	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2817515	NM_000348.4(SRD5A2):c.281+2T>C	SRD5A2	Single nucleotide variant (splice donor variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely pathogenic
Select item 2810971	NM_000348.4(SRD5A2):c.547+1G>C	SRD5A2	Single nucleotide variant (splice donor variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2805936	NM_000348.4(SRD5A2):c.96C>A (p.Gly32=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2805514	NM_000348.4(SRD5A2):c.636A>G (p.Pro212=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2802443	NM_000348.4(SRD5A2):c.705C>T (p.Tyr235=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2799997	NM_000348.4(SRD5A2):c.72C>G (p.Ala24=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2797337	NM_000348.4(SRD5A2):c.630C>T (p.Ser210=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2792157	NM_000348.4(SRD5A2):c.281+19G>C	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2790633	NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter)	SRD5A2 (Q182*)	Single nucleotide variant (nonsense)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2786847	NM_000348.4(SRD5A2):c.333C>T (p.Leu111=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2776159	NM_000348.4(SRD5A2):c.402T>C (p.Ala134=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2776005	NM_000348.4(SRD5A2):c.281+18C>A	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2775749	NM_000348.4(SRD5A2):c.687T>C (p.Phe229=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2772717	NM_000348.4(SRD5A2):c.462T>C (p.Ile154=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2767935	NM_000348.4(SRD5A2):c.281+19G>A	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2764843	NM_000348.4(SRD5A2):c.81C>G (p.Val27=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2764310	NM_000348.4(SRD5A2):c.602G>A (p.Trp201Ter)	SRD5A2 (W201*)	Single nucleotide variant (nonsense)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2762010	NM_000348.4(SRD5A2):c.687del (p.His230fs)	SRD5A2 (H230fs)	Deletion (frameshift variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2757063	NM_000348.4(SRD5A2):c.282-13C>T	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2756683	NM_000348.4(SRD5A2):c.588T>G (p.Gly196=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2756480	NM_000348.4(SRD5A2):c.564del (p.Thr187_Tyr188insTer)	SRD5A2	Deletion (nonsense)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2756011	NM_000348.4(SRD5A2):c.147C>T (p.Ala49=)	SRD5A2	Single nucleotide variant (synonymous variant)	SRD5A2-related disorder +1 more	GLikely benign
Select item 2753268	NM_000348.4(SRD5A2):c.75G>A (p.Leu25=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2739051	NM_000348.4(SRD5A2):c.699-15T>C	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2738783	NM_000348.4(SRD5A2):c.111G>C (p.Thr37=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2738729	NM_000348.4(SRD5A2):c.15C>T (p.Cys5=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2737999	NM_000348.4(SRD5A2):c.84G>A (p.Ala28=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2735335	NM_000348.4(SRD5A2):c.82_88del (p.Ala28fs)	SRD5A2 (A28fs)	Deletion (frameshift variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2734168	NM_000348.4(SRD5A2):c.281+10T>C	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2734145	NM_000348.4(SRD5A2):c.158G>A (p.Trp53Ter)	SRD5A2 (W53*)	Single nucleotide variant (nonsense)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2734144	NM_000348.4(SRD5A2):c.167A>G (p.Gln56Arg)	SRD5A2 (Q56R)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2734143	NM_000348.4(SRD5A2):c.418del (p.Trp140fs)	SRD5A2 (W140fs)	Deletion (frameshift variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2734142	NM_000348.4(SRD5A2):c.689A>C (p.His230Pro)	SRD5A2 (H230P)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2733142	NM_000348.4(SRD5A2):c.192C>T (p.Pro64=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2732642	NM_000348.4(SRD5A2):c.281+18C>T	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2730359	NM_000348.4(SRD5A2):c.698+7T>G	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 2728964	NM_000348.4(SRD5A2):c.303C>T (p.Leu101=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2727882	NM_000348.4(SRD5A2):c.231G>A (p.Gly77=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign

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