SRD5A2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 60107	GRCh38/hg38 2p23.1-22.3(chr2:31368632-32087629)x1	DPY30, LINC01946 +19 more	Copy number loss	See cases	GPathogenic
Select item 60108	GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1	BIRC6, DPY30 +28 more	Copy number loss	See cases	GPathogenic
Select item 97420	NM_000348.4(SRD5A2):c.*1843A>G	SRD5A2	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 3336	NC_000002.12:g.(?_31524586)_(31580971_?)del	SRD5A2	Deletion	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 97419	NM_000348.4(SRD5A2):c.*1552G>A	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 898753	NM_000348.4(SRD5A2):c.*1504A>T	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 898754	NM_000348.4(SRD5A2):c.*1492A>G	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 898755	NM_000348.4(SRD5A2):c.*1440T>G	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 898756	NM_000348.4(SRD5A2):c.*1422G>A	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 898757	NM_000348.4(SRD5A2):c.*1384A>G	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 97418	NM_000348.4(SRD5A2):c.*1356A>C	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 898758	NM_000348.4(SRD5A2):c.*1290C>A	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 335802	NM_000348.4(SRD5A2):c.*1290C>G	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 335803	NM_000348.4(SRD5A2):c.*1273A>G	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 895785	NM_000348.4(SRD5A2):c.*1242A>G	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 335804	NM_000348.4(SRD5A2):c.1151_1152dup	SRD5A2	Duplication (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 335805	NM_000348.4(SRD5A2):c.*1152del	SRD5A2	Deletion (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 335806	NM_000348.4(SRD5A2):c.*1133A>G	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 335807	NM_000348.4(SRD5A2):c.*1056G>C	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 895786	NM_000348.4(SRD5A2):c.*981G>A	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 97417	NM_000348.4(SRD5A2):c.*849A>G	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 97416	NM_000348.4(SRD5A2):c.*821A>T	SRD5A2	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 335808	NM_000348.4(SRD5A2):c.*686G>T	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 895787	NM_000348.4(SRD5A2):c.*672T>A	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 335809	NM_000348.4(SRD5A2):c.*614T>A	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 896068	NM_000348.4(SRD5A2):c.*572C>T	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 896069	NM_000348.4(SRD5A2):c.*510T>G	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 896070	NM_000348.4(SRD5A2):c.*392A>C	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 896071	NM_000348.4(SRD5A2):c.*372G>A	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 896072	NM_000348.4(SRD5A2):c.*307A>G	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 335810	NM_000348.4(SRD5A2):c.*286A>G	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 896073	NM_000348.4(SRD5A2):c.*278C>T	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 97415	NM_000348.4(SRD5A2):c.*259T>C	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 335811	NM_000348.4(SRD5A2):c.*224A>T	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 897660	NM_000348.4(SRD5A2):c.*120G>A	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 897661	NM_000348.4(SRD5A2):c.*119C>T	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 1281523	NM_000348.4(SRD5A2):c.90_91del	SRD5A2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 335815	NM_000348.4(SRD5A2):c.*91C>T	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 335814	NM_000348.4(SRD5A2):c.88_91delinsACCTATATATATATATATATATAT	SRD5A2	Indel (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 335813	NM_000348.4(SRD5A2):c.90_91delinsATATATATATATATATATATATATATATATATATATAT	SRD5A2	Indel (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 335812	NM_000348.4(SRD5A2):c.90_91delinsATATATATATATATATATATATATATATATATATAT	SRD5A2	Indel (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 335816	NM_000348.4(SRD5A2):c.*88T>A	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 492906	NM_000348.4(SRD5A2):c.*43G>A	SRD5A2	Single nucleotide variant (3 prime UTR variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 3035322	NM_000348.4(SRD5A2):c.*2G>A	SRD5A2	Single nucleotide variant (3 prime UTR variant)	SRD5A2-related condition	GLikely benign
Select item 3343	NM_000348.4(SRD5A2):c.753del (p.Phe252fs)	SRD5A2 (F252fs)	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 459645	NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)	SRD5A2 (R246Q)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 3337	NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp)	SRD5A2 (R246W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 436858	NM_000348.4(SRD5A2):c.734C>A (p.Ser245Tyr)	SRD5A2 (S245Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 549757	NM_000348.4(SRD5A2):c.729del (p.Lys244fs)	SRD5A2 (K244fs)	Deletion (frameshift variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 440485	NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys)	SRD5A2 (Y242C)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely pathogenic
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 459644	NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe)	SRD5A2 (Y235F)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency +1 more	GPathogenic
Select item 2443271	NM_000348.4(SRD5A2):c.703T>C (p.Tyr235His)	SRD5A2 (Y235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 97414	NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu)	SRD5A2 (F234L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1804991	NM_000348.4(SRD5A2):c.699-3T>C	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
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 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 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 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 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 2581421	NM_000348.4(SRD5A2):c.698G>A (p.Arg233Lys)	SRD5A2 (R233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 97413	NM_000348.4(SRD5A2):c.696T>C (p.His232=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 459643	NM_000348.4(SRD5A2):c.695A>G (p.His232Arg)	SRD5A2 (H232R)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 375322	NM_000348.4(SRD5A2):c.694C>G (p.His232Asp)	SRD5A2 (H232D)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3346	NM_000348.4(SRD5A2):c.692A>G (p.His231Arg)	SRD5A2 (H231R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1299401	NM_000348.4(SRD5A2):c.691C>T (p.His231Tyr)	SRD5A2 (H231Y)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 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 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 2573397	NM_000348.4(SRD5A2):c.683C>G (p.Ala228Gly)	SRD5A2 (A228G)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely pathogenic
Select item 459642	NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val)	SRD5A2 (A228V)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 3344	NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)	SRD5A2 (A228T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 3351	NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	SRD5A2 (R227Q)	Single nucleotide variant (missense variant)	SRD5A2-related condition +2 more	GPathogenic/Likely pathogenic
Select item 3342	NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter)	SRD5A2 (R227*)	Single nucleotide variant (nonsense)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 2019450	NM_000348.4(SRD5A2):c.678G>T (p.Leu226=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 3045745	NM_000348.4(SRD5A2):c.669C>G (p.Phe223Leu)	SRD5A2 (F223L)	Single nucleotide variant (missense variant)	SRD5A2-related condition	GLikely benign
Select item 97381	NM_000348.4(SRD5A2):c.656del (p.Phe219fs)	SRD5A2 (F219fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1336965	NM_000348.4(SRD5A2):c.651A>G (p.Ala217=)	SRD5A2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
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 3348	NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg)	SRD5A2 (P212R)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
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 459641	NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile)	SRD5A2 (T208I)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2727005	NM_000348.4(SRD5A2):c.621C>T (p.Ala207=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 529238	NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp)	SRD5A2 (A207D)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
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 2695600	NM_000348.4(SRD5A2):c.614C>A (p.Ala205Asp)	SRD5A2 (A205D)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 459640	NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser)	SRD5A2 (G203S)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
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 2581310	NM_000348.4(SRD5A2):c.601T>A (p.Trp201Arg)	SRD5A2 (W201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 492905	NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys)	SRD5A2 (E200K)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 459639	NM_000348.4(SRD5A2):c.594C>T (p.Ile198=)	SRD5A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3349	NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp)	SRD5A2 (E197D)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 1298365	NM_000348.4(SRD5A2):c.589G>A (p.Glu197Lys)	SRD5A2 (E197K)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
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 548153	NM_000348.4(SRD5A2):c.586G>C (p.Gly196Arg)	SRD5A2 (G196R)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic

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