"Ambry Genetics"[submitter] AND "IFNGR2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 474968	NM_005534.4(IFNGR2):c.37C>T (p.Leu13Phe)	IFNGR2, LOC119266102 (L13F)	Single nucleotide variant (missense variant)	Immunodeficiency 28 +2 more	GConflicting classifications of pathogenicity
Select item 2242362	NM_005534.4(IFNGR2):c.67C>G (p.Pro23Ala)	IFNGR2, LOC119266102 (P23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322471	NM_005534.4(IFNGR2):c.100C>G (p.Gln34Glu)	IFNGR2 (Q34E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312374	NM_005534.4(IFNGR2):c.136G>A (p.Val46Ile)	IFNGR2 (V46I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2060329	NM_005534.4(IFNGR2):c.295G>A (p.Ala99Thr)	IFNGR2 (A99T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 576275	NM_005534.4(IFNGR2):c.308C>T (p.Ala103Val)	IFNGR2 (A103V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1481513	NM_005534.4(IFNGR2):c.347G>A (p.Arg116Gln)	IFNGR2 (R116Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2611220	NM_005534.4(IFNGR2):c.418G>C (p.Val140Leu)	IFNGR2 (V159L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1008942	NM_005534.4(IFNGR2):c.451G>A (p.Gly151Arg)	IFNGR2 (G151R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2309314	NM_005534.4(IFNGR2):c.481T>G (p.Ser161Ala)	IFNGR2 (S161A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273061	NM_005534.4(IFNGR2):c.599A>G (p.Asp200Gly)	IFNGR2 (D219G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 636564	NM_005534.4(IFNGR2):c.665A>T (p.Asn222Ile)	IFNGR2 (N222I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2517206	NM_005534.4(IFNGR2):c.695T>C (p.Ile232Thr)	IFNGR2 (I232T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3108290	NM_005534.4(IFNGR2):c.737A>G (p.Gln246Arg)	IFNGR2, TMEM50B (Q246R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108291	NM_005534.4(IFNGR2):c.808G>A (p.Val270Ile)	IFNGR2, TMEM50B (V270I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550331	NM_005534.4(IFNGR2):c.824G>T (p.Gly275Val)	IFNGR2, TMEM50B (G275V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28 +1 more	GUncertain significance
Select item 2276683	NM_005534.4(IFNGR2):c.914C>A (p.Ala305Asp)	IFNGR2, TMEM50B (A324D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108292	NM_005534.4(IFNGR2):c.917T>C (p.Leu306Ser)	IFNGR2, TMEM50B (L306S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance