QRFPR[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2345012	NM_198179.3(QRFPR):c.1238A>G (p.His413Arg)	QRFPR (H413R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234613	NM_198179.3(QRFPR):c.1217A>T (p.Glu406Val)	QRFPR (E406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150326	NM_198179.3(QRFPR):c.1105A>G (p.Met369Val)	QRFPR (M369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622113	NM_198179.3(QRFPR):c.1054G>A (p.Val352Ile)	QRFPR (V352I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441009	NM_198179.3(QRFPR):c.1025del (p.Asn342fs)	QRFPR (N342fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 3150335	NM_198179.3(QRFPR):c.983A>T (p.Asn328Ile)	QRFPR (N328I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2173212	NM_198179.3(QRFPR):c.887T>C (p.Ile296Thr)	QRFPR (I296T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2369788	NM_198179.3(QRFPR):c.820A>G (p.Met274Val)	QRFPR (M274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150334	NM_198179.3(QRFPR):c.779A>T (p.Glu260Val)	QRFPR (E260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 493398	NM_198179.3(QRFPR):c.767T>G (p.Ile256Ser)	QRFPR (I256S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2228282	NM_198179.3(QRFPR):c.701A>G (p.Tyr234Cys)	QRFPR (Y234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347229	NM_198179.3(QRFPR):c.695T>G (p.Ile232Ser)	QRFPR (I232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311936	NM_198179.3(QRFPR):c.653T>C (p.Ile218Thr)	QRFPR (I218T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378069	NM_198179.3(QRFPR):c.631C>G (p.Gln211Glu)	QRFPR (Q211E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311937	NM_198179.3(QRFPR):c.546C>G (p.His182Gln)	QRFPR (H182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458741	NM_198179.3(QRFPR):c.493A>G (p.Met165Val)	QRFPR (M165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516749	NM_198179.3(QRFPR):c.361G>T (p.Val121Leu)	QRFPR (V121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311935	NM_198179.3(QRFPR):c.349A>G (p.Ile117Val)	QRFPR (I117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156931	NM_198179.3(QRFPR):c.340+11600_340+16200del	QRFPR	Deletion (intron variant)	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 3150330	NM_198179.3(QRFPR):c.328A>G (p.Asn110Asp)	QRFPR (N110D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150329	NM_198179.3(QRFPR):c.248T>G (p.Phe83Cys)	QRFPR (F83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232881	NM_198179.3(QRFPR):c.222G>T (p.Lys74Asn)	QRFPR (K74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396419	NM_198179.3(QRFPR):c.157G>A (p.Val53Met)	QRFPR (V53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250059	NM_198179.3(QRFPR):c.134A>C (p.Lys45Thr)	QRFPR (K45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150328	NM_198179.3(QRFPR):c.115G>C (p.Glu39Gln)	QRFPR (E39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554215	NM_198179.3(QRFPR):c.101T>C (p.Leu34Pro)	QRFPR (L34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150333	NM_198179.3(QRFPR):c.67G>C (p.Glu23Gln)	QRFPR (E23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150332	NM_198179.3(QRFPR):c.47G>C (p.Arg16Pro)	QRFPR (R16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256394	NM_198179.3(QRFPR):c.34T>C (p.Ser12Pro)	QRFPR (S12P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 29