ClinVar for MedGen (Select 462756) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627778	NM_004959.5(NR5A1):c.352T>A (p.Phe118Ile)	NR5A1 (F118I)	Single nucleotide variant (missense variant)	Spermatogenic failure 8	GUncertain significance
Select item 1244229	NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn)	NR5A1 (D238N)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +6 more	GConflicting classifications of pathogenicity
Select item 242792	NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala)	NR5A1 (G123A)	Single nucleotide variant (missense variant)	NR5A1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 29895	NM_004959.5(NR5A1):c.634G>A (p.Gly212Ser)	NR5A1 (G212S)	Single nucleotide variant (missense variant)	Spermatogenic failure 8	GPathogenic
Select item 29894	NM_004959.5(NR5A1):c.392C>T (p.Pro131Leu)	NR5A1 (P131L)	Single nucleotide variant (missense variant)	Spermatogenic failure 8	GPathogenic
Select item 12809	NM_004959.4(NR5A1):c.[368G>C;386C>T]	NR5A1 (P129L +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure 7 +1 more	GPathogenic

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