ClinVar for MedGen (Select 394115) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285270	NM_001004311.3(FIGLA):c.231+24T>C	FIGLA	Single nucleotide variant (intron variant)	Premature ovarian failure 6 +1 more	GBenign
Select item 1256046	NM_001004311.3(FIGLA):c.11C>A (p.Ala4Glu)	FIGLA (A4E)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GUncertain significance
Select item 899337	NM_001004311.3(FIGLA):c.21C>T (p.Val7=)	FIGLA	Single nucleotide variant (synonymous variant)	Premature ovarian failure 6	GUncertain significance
Select item 899336	NM_001004311.3(FIGLA):c.28C>T (p.Pro10Ser)	FIGLA (P10S)	Single nucleotide variant (missense variant)	Premature ovarian failure 6 +1 more	GUncertain significance
Select item 899335	NM_001004311.3(FIGLA):c.29C>A (p.Pro10His)	FIGLA (P10H)	Single nucleotide variant (missense variant)	Premature ovarian failure 6 +1 more	GUncertain significance
Select item 898227	NM_001004311.3(FIGLA):c.73G>A (p.Val25Met)	FIGLA (V25M)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GUncertain significance
Select item 898226	NM_001004311.3(FIGLA):c.231+15G>A	FIGLA	Single nucleotide variant (intron variant)	Premature ovarian failure 6	GBenign
Select item 898225	NM_001004311.3(FIGLA):c.247C>T (p.Arg83Cys)	FIGLA (R83C)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GUncertain significance
Select item 898224	NM_001004311.3(FIGLA):c.277C>A (p.Pro93Thr)	FIGLA (P93T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 896600	NM_001004311.3(FIGLA):c.585A>G (p.Glu195=)	FIGLA	Single nucleotide variant (synonymous variant)	Premature ovarian failure 6	GLikely benign
Select item 895185	NM_001004311.3(FIGLA):c.625G>A (p.Val209Ile)	FIGLA (V209I)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GBenign
Select item 635131	NM_001004311.3(FIGLA):c.2T>C (p.Met1Thr)	FIGLA (M1T)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 6	GPathogenic
Select item 336914	NM_001004311.3(FIGLA):c.84C>A (p.Asp28Glu)	FIGLA (D28E)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GBenign
Select item 336913	NM_001004311.3(FIGLA):c.154G>A (p.Gly52Ser)	FIGLA (G52S)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GUncertain significance
Select item 336912	NM_001004311.3(FIGLA):c.234A>T (p.Ile78=)	FIGLA	Single nucleotide variant (synonymous variant)	Premature ovarian failure 6 +1 more	GBenign
Select item 336911	NM_001004311.3(FIGLA):c.248G>A (p.Arg83His)	FIGLA (R83H)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GLikely benign
Select item 336910	NM_001004311.3(FIGLA):c.384+11A>G	FIGLA	Single nucleotide variant (intron variant)	Premature ovarian failure 6	GUncertain significance
Select item 336909	NM_001004311.3(FIGLA):c.422G>C (p.Ser141Thr)	FIGLA (S141T)	Single nucleotide variant (missense variant)	Premature ovarian failure 6 +1 more	GBenign
Select item 336908	NM_001004311.3(FIGLA):c.443C>T (p.Ser148Leu)	FIGLA (S148L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 336907	NM_001004311.3(FIGLA):c.552C>T (p.His184=)	FIGLA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 336906	NM_001004311.3(FIGLA):c.566G>A (p.Ser189Asn)	FIGLA (S189N)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GUncertain significance
Select item 336904	NM_001004311.3(FIGLA):c.*53A>C	FIGLA	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 6	GBenign
Select item 197699	NM_001004311.3(FIGLA):c.*7A>G	FIGLA	Single nucleotide variant (3 prime UTR variant)	Premature ovarian failure 6 +2 more	GBenign
Select item 197698	NM_001004311.3(FIGLA):c.*5T>A	FIGLA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 2138	NM_001004311.3(FIGLA):c.416ACA[1] (p.Asn140del)	FIGLA (N140del)	Microsatellite (inframe_deletion)	Premature ovarian failure 6	GPathogenic
Select item 2137	NM_001004311.3(FIGLA):c.15_36del (p.Gly6fs)	FIGLA (G6fs)	Deletion (frameshift variant)	Premature ovarian failure 6	GPathogenic

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Items: 26