"SRD5A2-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3045745	NM_000348.4(SRD5A2):c.669C>G (p.Phe223Leu)	SRD5A2 (F223L)	Single nucleotide variant (missense variant)	SRD5A2-related condition	GLikely benign
Select item 1168548	NM_000348.4(SRD5A2):c.441C>T (p.Ser147=)	SRD5A2	Single nucleotide variant (synonymous variant)	SRD5A2-related condition +1 more	GBenign/Likely benign
Select item 2756011	NM_000348.4(SRD5A2):c.147C>T (p.Ala49=)	SRD5A2	Single nucleotide variant (synonymous variant)	SRD5A2-related condition +1 more	GLikely benign
Select item 2897077	NM_000348.4(SRD5A2):c.78C>T (p.Tyr26=)	SRD5A2	Single nucleotide variant (synonymous variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency +1 more	GLikely benign
Select item 436859	NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter)	SRD5A2 (Q6*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic

ClinVar