"Ambry Genetics"[submitter] AND "DNAI7"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2469999	NM_001366544.2(IRAG2):c.1333A>G (p.Ile445Val)	DNAI7, IRAG2 (I1392V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2485725	NM_001366544.2(IRAG2):c.1394A>G (p.Lys465Arg)	DNAI7, IRAG2 (K465R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2588011	NM_001366544.2(IRAG2):c.1408G>A (p.Ala470Thr)	DNAI7, IRAG2 (A1417T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490446	NM_018272.5(DNAI7):c.2019A>T (p.Lys673Asn)	DNAI7 (K627N +8 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2525303	NM_018272.5(DNAI7):c.1930C>T (p.Pro644Ser)	DNAI7 (P579S +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2606130	NM_018272.5(DNAI7):c.1063G>A (p.Glu355Lys)	DNAI7 (E237K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600172	NM_018272.5(DNAI7):c.1048A>T (p.Met350Leu)	DNAI7 (M285L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552860	NM_018272.5(DNAI7):c.947T>A (p.Ile316Asn)	DNAI7 (I310N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471337	NM_018272.5(DNAI7):c.761T>C (p.Ile254Thr)	DNAI7 (I248T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476080	NM_018272.5(DNAI7):c.623T>C (p.Met208Thr)	DNAI7 (M162T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553017	NM_018272.5(DNAI7):c.344T>C (p.Val115Ala)	DNAI7 (V109A +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2486074	NM_018272.5(DNAI7):c.140T>G (p.Met47Arg)	DNAI7 (M105R +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2603189	NM_018272.5(DNAI7):c.100G>A (p.Glu34Lys)	DNAI7 (E28K +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance