"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SRD5A2" - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 197

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency +1 more	GPathogenic
Select item 436858	NM_000348.4(SRD5A2):c.734C>A (p.Ser245Tyr)	SRD5A2 (S245Y)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
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)	See cases +1 more	GPathogenic
Select item 97414	NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu)	SRD5A2 (F234L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 3346	NM_000348.4(SRD5A2):c.692A>G (p.His231Arg)	SRD5A2 (H231R)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency +1 more	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 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 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/Likely pathogenic
Select item 3351	NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	SRD5A2 (R227Q)	Single nucleotide variant (missense variant)	not provided +1 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 97381	NM_000348.4(SRD5A2):c.656del (p.Phe219fs)	SRD5A2 (F219fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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/Likely pathogenic
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 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 specified +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 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 3345	NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)	SRD5A2 (G196S)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 97412	NM_000348.4(SRD5A2):c.585C>T (p.Leu195=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 459638	NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser)	SRD5A2 (N193S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 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 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 97408	NM_000348.4(SRD5A2):c.548-2A>C	SRD5A2	Single nucleotide variant (splice acceptor variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1161063	NM_000348.4(SRD5A2):c.548-4G>A	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2717652	NM_000348.4(SRD5A2):c.548-5C>T	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 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 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 375328	NM_000348.4(SRD5A2):c.548-9T>G	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 515399	NM_000348.4(SRD5A2):c.548-13C>T	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 1601145	NM_000348.4(SRD5A2):c.548-18C>T	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency +1 more	GBenign
Select item 647477	NC_000002.12:g.(?_31531351)_(31531492_?)del	SRD5A2	Deletion	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely pathogenic
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 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 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 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 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 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 3341	NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)	SRD5A2 (G183S)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
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 372520	NM_000348.4(SRD5A2):c.542C>T (p.Pro181Leu)	SRD5A2 (P181L)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency +1 more	GPathogenic
Select item 1418189	NM_000348.4(SRD5A2):c.537G>T (p.Arg179Ser)	SRD5A2 (R179S)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
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 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 1958711	NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser)	SRD5A2 (R171S)	Single nucleotide variant (missense 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 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 774372	NM_000348.4(SRD5A2):c.502C>T (p.Arg168Cys)	SRD5A2 (R168C)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
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 973099	NM_000348.4(SRD5A2):c.485A>C (p.His162Pro)	SRD5A2 (H162P)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic/Likely pathogenic
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 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 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 492901	NM_000348.4(SRD5A2):c.446-10_446-8del	SRD5A2	Microsatellite (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2709844	NM_000348.4(SRD5A2):c.446-15C>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 2705703	NM_000348.4(SRD5A2):c.445+16del	SRD5A2	Deletion (intron 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 2724953	NM_000348.4(SRD5A2):c.445+11C>T	SRD5A2	Single nucleotide variant (intron variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 2716009	NM_000348.4(SRD5A2):c.442T>C (p.Leu148=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely benign
Select item 1168548	NM_000348.4(SRD5A2):c.441C>T (p.Ser147=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GBenign
Select item 2716510	NM_000348.4(SRD5A2):c.433C>T (p.Arg145Trp)	SRD5A2 (R145W)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GLikely pathogenic
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 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 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 2016323	NM_000348.4(SRD5A2):c.403G>A (p.Glu135Lys)	SRD5A2 (E135K)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
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 459637	NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp)	SRD5A2 (Y129D)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 1956394	NM_000348.4(SRD5A2):c.382T>A (p.Tyr128Asn)	SRD5A2 (Y128N)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
Select item 372519	NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg)	SRD5A2 (Q126R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 582210	NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro)	SRD5A2 (T120P)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1410942	NM_000348.4(SRD5A2):c.357del (p.Phe118_Cys119insTer)	SRD5A2	Deletion (nonsense)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 3340	NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)	SRD5A2 (G115D)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 459636	NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val)	SRD5A2 (L113V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1364583	NM_000348.4(SRD5A2):c.331C>A (p.Leu111Ile)	SRD5A2 (L111I)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GUncertain significance
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

<< First< Prev

Page of 2