ClinVar for Gene (Select 126298) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110900	NM_001007561.3(IRGQ):c.94G>A (p.Val32Met)	IRGQ (V32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110899	NM_001007561.3(IRGQ):c.710T>G (p.Leu237Arg)	IRGQ (L237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110898	NM_001007561.3(IRGQ):c.709C>T (p.Leu237Phe)	IRGQ (L237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110897	NM_001007561.3(IRGQ):c.592C>T (p.Arg198Cys)	IRGQ (R198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110896	NM_001007561.3(IRGQ):c.365A>G (p.Gln122Arg)	IRGQ (Q122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110895	NM_001007561.3(IRGQ):c.317G>A (p.Arg106Gln)	IRGQ (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110894	NM_001007561.3(IRGQ):c.1634C>G (p.Ala545Gly)	IRGQ (A545G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110893	NM_001007561.3(IRGQ):c.152C>T (p.Ala51Val)	IRGQ (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110892	NM_001007561.3(IRGQ):c.1195G>T (p.Gly399Cys)	IRGQ (G399C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605543	NM_001007561.3(IRGQ):c.517G>A (p.Glu173Lys)	IRGQ (E173K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557371	NM_001007561.3(IRGQ):c.652G>A (p.Glu218Lys)	IRGQ (E218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555905	NM_001007561.3(IRGQ):c.1322G>A (p.Gly441Glu)	IRGQ (G441E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520658	NM_001007561.3(IRGQ):c.1303C>T (p.Arg435Trp)	IRGQ (R435W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513129	NM_001007561.3(IRGQ):c.656G>A (p.Arg219His)	IRGQ (R219H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509924	NM_001007561.3(IRGQ):c.34T>C (p.Phe12Leu)	IRGQ (F12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468217	NM_001007561.3(IRGQ):c.793C>G (p.Pro265Ala)	IRGQ (P265A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	ZNF229, ZNF230 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 2396203	NM_001007561.3(IRGQ):c.692G>A (p.Gly231Asp)	IRGQ (G231D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395219	NM_001007561.3(IRGQ):c.101C>T (p.Thr34Met)	IRGQ (T34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332943	NM_001007561.3(IRGQ):c.1054G>A (p.Glu352Lys)	IRGQ (E352K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307929	NM_001007561.3(IRGQ):c.1798G>A (p.Val600Ile)	IRGQ (V600I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296005	NM_001007561.3(IRGQ):c.1403G>A (p.Ser468Asn)	IRGQ (S468N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277308	NM_001007561.3(IRGQ):c.545C>T (p.Ala182Val)	IRGQ (A182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265950	NM_001007561.3(IRGQ):c.158G>T (p.Gly53Val)	IRGQ (G53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234312	NM_001007561.3(IRGQ):c.356G>A (p.Gly119Glu)	IRGQ (G119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209849	NM_001007561.3(IRGQ):c.1176G>C (p.Glu392Asp)	IRGQ (E392D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808065	GRCh37/hg19 19q13.2-13.31(chr19:43084067-44096910)x3	CD177, CEACAM8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1526666	GRCh37/hg19 19q13.2-13.31(chr19:43082847-44100076)	CD177, CEACAM8 +19 more	Copy number gain	not specified	GUncertain significance
Select item 687817	GRCh37/hg19 19q13.31(chr19:43818072-44100076)x3	CD177, ETHE1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 685142	GRCh37/hg19 19q13.31(chr19:43803157-44105375)x3	CD177, ETHE1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic
Select item 161489	NM_001007561.3(IRGQ):c.1795G>A (p.Gly599Ser)	IRGQ (G599S)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	PHLDB3, PINLYP +55 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 38