Related gene-specific medical variations for Gene (Select 2661) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068062	NM_005260.7(GDF9):c.759_762del (p.Phe254fs)	GDF9 (F166fs +1 more)	Microsatellite (frameshift variant)	Premature ovarian failure 14	GLikely pathogenic
Select item 1256006	NM_005260.7(GDF9):c.946C>T (p.Arg316Cys)	GDF9 (R228C +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256000	NM_005260.7(GDF9):c.1283G>C (p.Ser428Thr)	GDF9 (S340T +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1240834	NC_000005.10:g.132866569A>G	GDF9, LOC126807509 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 676789	NM_014402.4(UQCRQ):c.-139T>C	GDF9, LOC126807509 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 635953	NM_005260.7(GDF9):c.-616_-142dup	GDF9	Duplication (5 prime UTR variant +1 more)	Premature ovarian failure	GUncertain significance

ClinVar