Related gene-specific medical variations for Gene (Select 2516) - 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 1319067	NM_004959.5(NR5A1):c.179C>T (p.Thr60Met)	NR5A1 (T60M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256024	NM_004959.5(NR5A1):c.909C>A (p.Ser303Arg)	NR5A1 (S303R)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256020	NM_004959.5(NR5A1):c.559del (p.Ala187fs)	NR5A1 (A187fs)	Deletion (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1256015	NM_004959.5(NR5A1):c.565C>A (p.Pro189Thr)	NR5A1 (P189T)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1226260	NM_004959.5(NR5A1):c.-15-88G>T	LOC108491836, NR5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205324	NM_004959.5(NR5A1):c.-15-81G>A	LOC108491836, NR5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 395167	GRCh37/hg19 9q33.3(chr9:127253558-127254078)x3	NR5A1	Copy number gain	See cases	GBenign
Select item 393999	GRCh37/hg19 9q33.3(chr9:127264913-127269352)x3	NR5A1	Copy number gain	See cases	GUncertain significance

ClinVar