"Ambry Genetics"[submitter] AND "GMPR2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100528	NM_001002002.3(GMPR2):c.-35-4C>A	GMPR2 (P6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336356	NM_001002002.3(GMPR2):c.131C>T (p.Thr44Ile)	GMPR2 (T62I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272963	NM_001002002.3(GMPR2):c.166G>A (p.Asp56Asn)	GMPR2 (D56N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494492	NM_001002002.3(GMPR2):c.203G>T (p.Cys68Phe)	GMPR2 (C68F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294841	NM_001002002.3(GMPR2):c.269G>T (p.Gly90Val)	GMPR2 (G54V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328338	NM_001002002.3(GMPR2):c.365A>G (p.Gln122Arg)	GMPR2 (Q86R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244871	NM_001002002.3(GMPR2):c.415G>A (p.Val139Ile)	GMPR2 (V111I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281734	NM_001002002.3(GMPR2):c.427A>G (p.Lys143Glu)	GMPR2 (K107E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357744	NM_001002002.3(GMPR2):c.437G>A (p.Arg146Gln)	GMPR2 (R118Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227941	NM_001002002.3(GMPR2):c.563C>T (p.Thr188Ile)	GMPR2 (T152I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100529	NM_001002002.3(GMPR2):c.712T>C (p.Phe238Leu)	GMPR2 (F210L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547025	NM_001002002.3(GMPR2):c.720G>C (p.Met240Ile)	GMPR2 (M204I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342648	NM_001002002.3(GMPR2):c.848C>T (p.Ala283Val)	GMPR2 (A283V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548428	NM_001002002.3(GMPR2):c.854A>C (p.Tyr285Ser)	GMPR2 (Y285S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281735	NM_001002002.3(GMPR2):c.869G>A (p.Gly290Glu)	GMPR2 (G290E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281736	NM_001002002.3(GMPR2):c.904G>C (p.Glu302Gln)	GMPR2 (E327Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100526	NM_001002002.3(GMPR2):c.973A>G (p.Lys325Glu)	GMPR2 (K343E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476143	NM_001002002.3(GMPR2):c.989G>A (p.Arg330Lys)	GMPR2 (R302K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100527	NM_001002002.3(GMPR2):c.1004G>A (p.Arg335Gln)	GMPR2 (R353Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance