ClinVar for MedGen (Select 414115) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299627	NM_004959.5(NR5A1):c.578T>A (p.Ile193Asn)	NR5A1 (I193N)	Single nucleotide variant (missense variant)	Premature ovarian failure 7	GLikely pathogenic
Select item 981141	NM_004959.5(NR5A1):c.1063G>A (p.Val355Met)	NR5A1 (V355M)	Single nucleotide variant (missense variant)	Premature ovarian failure 7 +3 more	GConflicting classifications of pathogenicity
Select item 12809	NM_004959.4(NR5A1):c.[368G>C;386C>T]	NR5A1 (P129L +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 8 +1 more	GPathogenic
Select item 12808	NM_004959.5(NR5A1):c.682CTGCAGCTG[1] (p.228LQL[1])	NR5A1	Microsatellite (inframe_deletion)	Premature ovarian failure 7	GPathogenic
Select item 12807	NM_004959.5(NR5A1):c.390del (p.Pro131fs)	NR5A1 (P131fs)	Deletion (frameshift variant)	46,XY sex reversal 3 +1 more	GPathogenic
Select item 12806	NM_004959.5(NR5A1):c.3G>A (p.Met1Ile)	NR5A1 (M1I)	Single nucleotide variant (missense variant +1 more)	46,XY sex reversal 3 +1 more	GPathogenic
Select item 12805	NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn)	NR5A1 (D293N)	Single nucleotide variant (missense variant)	46,XY sex reversal 3 +1 more	GPathogenic
Select item 12804	NM_004959.5(NR5A1):c.666del (p.Asn222fs)	NR5A1 (N222fs)	Deletion (frameshift variant)	46,XY sex reversal 3 +1 more	GPathogenic

ClinVar