"Ambry Genetics"[submitter] AND "SRD5A1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2259645	NM_001047.4(SRD5A1):c.5C>T (p.Ala2Val)	SRD5A1 (A2V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3169884	NM_001047.4(SRD5A1):c.19G>A (p.Val7Met)	SRD5A1 (V7M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2613777	NM_001047.4(SRD5A1):c.64G>A (p.Ala22Thr)	SRD5A1 (A22T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3169888	NM_001047.4(SRD5A1):c.73T>C (p.Cys25Arg)	SRD5A1 (C25R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3169889	NM_001047.4(SRD5A1):c.75C>G (p.Cys25Trp)	SRD5A1 (A34G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267612	NM_001047.4(SRD5A1):c.100A>G (p.Thr34Ala)	SRD5A1 (T34A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2408510	NM_001047.4(SRD5A1):c.110T>C (p.Val37Ala)	SRD5A1 (C46R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2393134	NM_001047.4(SRD5A1):c.155C>T (p.Ala52Val)	SRD5A1 (A52V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169882	NM_001047.4(SRD5A1):c.160G>A (p.Ala54Thr)	SRD5A1 (A54T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3169883	NM_001047.4(SRD5A1):c.172G>C (p.Val58Leu)	SRD5A1 (W66C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3322593	NM_001047.4(SRD5A1):c.206A>G (p.Tyr69Cys)	SRD5A1 (Y69C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264241	NM_001047.4(SRD5A1):c.235C>G (p.Leu79Val)	SRD5A1 (L79V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2287999	NM_001047.4(SRD5A1):c.392A>G (p.Gln131Arg)	SRD5A1 (Q131R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169886	NM_001047.4(SRD5A1):c.422A>C (p.Tyr141Ser)	SRD5A1 (Y141S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2457409	NM_001047.4(SRD5A1):c.457A>G (p.Ile153Val)	SRD5A1 (I153V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169887	NM_001047.4(SRD5A1):c.509A>T (p.His170Leu)	SRD5A1 (H123L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306389	NM_001047.4(SRD5A1):c.512T>C (p.Ile171Thr)	SRD5A1 (I124T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209164	NM_001047.4(SRD5A1):c.655G>A (p.Ala219Thr)	SRD5A1 (A146T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance