"Ambry Genetics"[submitter] AND "PGRMC2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2476981	NM_006320.6(PGRMC2):c.650A>G (p.Lys217Arg)	PGRMC2 (K217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475907	NM_006320.6(PGRMC2):c.551G>A (p.Arg184Gln)	PGRMC2 (R184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263330	NM_006320.6(PGRMC2):c.419C>T (p.Ala140Val)	PGRMC2 (A140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308618	NM_006320.6(PGRMC2):c.415C>G (p.Pro139Ala)	PGRMC2 (P139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211911	NM_006320.6(PGRMC2):c.371A>G (p.Asn124Ser)	PGRMC2 (N124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232913	NM_006320.6(PGRMC2):c.326G>T (p.Arg109Leu)	LOC129993060, PGRMC2 (R109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306045	NM_006320.6(PGRMC2):c.309C>A (p.Phe103Leu)	LOC129993060, PGRMC2 (F103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306044	NM_006320.6(PGRMC2):c.289C>T (p.Arg97Cys)	LOC129993060, PGRMC2 (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306046	NM_006320.6(PGRMC2):c.281C>G (p.Ser94Cys)	LOC129993060, PGRMC2 (S94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616291	NM_006320.6(PGRMC2):c.247G>C (p.Gly83Arg)	PGRMC2 (G83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362132	NM_006320.6(PGRMC2):c.242G>A (p.Gly81Glu)	PGRMC2 (G81E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2460210	NM_006320.6(PGRMC2):c.232C>T (p.Arg78Trp)	PGRMC2 (R78W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211909	NM_006320.6(PGRMC2):c.229C>T (p.Arg77Trp)	PGRMC2 (R77W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229806	NM_006320.6(PGRMC2):c.185C>T (p.Ala62Val)	PGRMC2 (A62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620474	NM_006320.6(PGRMC2):c.179T>C (p.Leu60Pro)	PGRMC2 (L60P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492512	NM_006320.6(PGRMC2):c.151G>A (p.Gly51Ser)	PGRMC2 (G51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557385	NM_006320.6(PGRMC2):c.148G>T (p.Gly50Trp)	PGRMC2 (G50W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306043	NM_006320.5(PGRMC2):c.25G>A (p.Gly9Arg)	LOC129993062, PGRMC2 (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance