"Ambry Genetics"[submitter] AND "IFNGR1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1434357	NM_000416.3(IFNGR1):c.1100C>T (p.Pro367Leu)	IFNGR1 (P326L +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +1 more	GUncertain significance
Select item 2319253	NM_000416.3(IFNGR1):c.791T>C (p.Val264Ala)	IFNGR1 (V223A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2267200	NM_000416.3(IFNGR1):c.773T>C (p.Phe258Ser)	IFNGR1 (F248S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282328	NM_000416.3(IFNGR1):c.760G>A (p.Ala254Thr)	IFNGR1 (A254T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1940325	NM_000416.3(IFNGR1):c.682A>G (p.Thr228Ala)	IFNGR1 (T228A +2 more)	Single nucleotide variant (missense variant)	Disseminated atypical mycobacterial infection +1 more	GUncertain significance
Select item 2521798	NM_000416.3(IFNGR1):c.603G>T (p.Gln201His)	IFNGR1 (Q191H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 355560	NM_000416.3(IFNGR1):c.490G>A (p.Glu164Lys)	IFNGR1 (E164K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +3 more	GUncertain significance
Select item 2336478	NM_000416.3(IFNGR1):c.319G>A (p.Gly107Arg)	IFNGR1 (G107R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558763	NM_000416.3(IFNGR1):c.170C>G (p.Pro57Arg)	IFNGR1 (P16R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 462773	NM_000416.3(IFNGR1):c.100A>G (p.Asn34Asp)	IFNGR1 (N34D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance