"Ambry Genetics"[submitter] AND "PRAG1"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2524128	NM_001080826.3(PRAG1):c.3784T>C (p.Tyr1262His)	PRAG1 (Y1262H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543865	NM_001080826.3(PRAG1):c.3704G>A (p.Ser1235Asn)	PRAG1 (S1235N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619378	NM_001080826.3(PRAG1):c.3505G>T (p.Ala1169Ser)	PRAG1 (A1169S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553865	NM_001080826.3(PRAG1):c.3479C>T (p.Ala1160Val)	PRAG1 (A1160V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545228	NM_001080826.3(PRAG1):c.3464A>T (p.His1155Leu)	PRAG1 (H1155L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485419	NM_001080826.3(PRAG1):c.3314G>A (p.Arg1105Gln)	PRAG1 (R1105Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615396	NM_001080826.3(PRAG1):c.2956G>A (p.Glu986Lys)	PRAG1 (E986K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548376	NM_001080826.3(PRAG1):c.2953A>G (p.Asn985Asp)	PRAG1 (N985D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544892	NM_001080826.3(PRAG1):c.2894G>A (p.Arg965His)	PRAG1 (R965H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616502	NM_001080826.3(PRAG1):c.2770A>T (p.Ser924Cys)	PRAG1 (S924C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495123	NM_001080826.3(PRAG1):c.2732A>C (p.Gln911Pro)	PRAG1 (Q911P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600743	NM_001080826.3(PRAG1):c.2459T>G (p.Ile820Arg)	PRAG1 (I820R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549467	NM_001080826.3(PRAG1):c.2459T>C (p.Ile820Thr)	PRAG1 (I820T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462346	NM_001080826.3(PRAG1):c.2441C>T (p.Pro814Leu)	PRAG1 (P814L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599319	NM_001080826.3(PRAG1):c.2433G>T (p.Gln811His)	PRAG1 (Q811H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558328	NM_001080826.3(PRAG1):c.2147C>T (p.Pro716Leu)	PRAG1 (P716L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475770	NM_001080826.3(PRAG1):c.2137C>G (p.Pro713Ala)	PRAG1 (P713A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527626	NM_001080826.3(PRAG1):c.1932G>C (p.Glu644Asp)	PRAG1 (E644D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538501	NM_001080826.3(PRAG1):c.1913G>A (p.Arg638Gln)	PRAG1 (R638Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570235	NM_001080826.3(PRAG1):c.1873C>T (p.Arg625Trp)	PRAG1 (R625W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568687	NM_001080826.3(PRAG1):c.1679C>T (p.Pro560Leu)	PRAG1 (P560L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516774	NM_001080826.3(PRAG1):c.1574C>G (p.Ser525Cys)	PRAG1 (S525C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531775	NM_001080826.3(PRAG1):c.1526A>T (p.Asn509Ile)	PRAG1 (N509I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590774	NM_001080826.3(PRAG1):c.1525A>C (p.Asn509His)	PRAG1 (N509H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543598	NM_001080826.3(PRAG1):c.1438C>T (p.His480Tyr)	PRAG1 (H480Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532075	NM_001080826.3(PRAG1):c.1309G>T (p.Ala437Ser)	PRAG1 (A437S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551549	NM_001080826.3(PRAG1):c.1283A>T (p.Lys428Met)	PRAG1 (K428M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476522	NM_001080826.3(PRAG1):c.1276C>G (p.Pro426Ala)	PRAG1 (P426A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593482	NM_001080826.3(PRAG1):c.1156A>T (p.Thr386Ser)	PRAG1 (T386S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494047	NM_001080826.3(PRAG1):c.1063A>G (p.Ser355Gly)	PRAG1 (S355G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512401	NM_001080826.3(PRAG1):c.886G>A (p.Gly296Arg)	PRAG1 (G296R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569155	NM_001080826.3(PRAG1):c.827G>A (p.Arg276Gln)	PRAG1 (R276Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616143	NM_001080826.3(PRAG1):c.754G>C (p.Glu252Gln)	PRAG1 (E252Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461181	NM_001080826.3(PRAG1):c.736G>A (p.Gly246Arg)	PRAG1 (G246R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597960	NM_001080826.3(PRAG1):c.686G>A (p.Arg229Gln)	PRAG1 (R229Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508739	NM_001080826.3(PRAG1):c.562G>A (p.Val188Met)	PRAG1 (V188M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517450	NM_001080826.3(PRAG1):c.506C>T (p.Pro169Leu)	PRAG1 (P169L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570330	NM_001080826.3(PRAG1):c.472G>C (p.Ala158Pro)	PRAG1 (A158P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524959	NM_001080826.3(PRAG1):c.413G>C (p.Gly138Ala)	PRAG1 (G138A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457287	NM_001080826.3(PRAG1):c.196A>C (p.Asn66His)	PRAG1 (N66H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606632	NM_001080826.3(PRAG1):c.181C>T (p.Pro61Ser)	PRAG1 (P61S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623248	NM_001080826.3(PRAG1):c.115G>A (p.Asp39Asn)	PRAG1 (D39N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 42