ClinVar for Gene (Select 126298) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286553	NM_001007561.3(IRGQ):c.1013C>A (p.Pro338Gln)	IRGQ (P338Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286552	NM_001007561.3(IRGQ):c.1637A>G (p.His546Arg)	IRGQ (H546R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286551	NM_001007561.3(IRGQ):c.1283C>T (p.Pro428Leu)	IRGQ (P428L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286550	NM_001007561.3(IRGQ):c.806G>C (p.Arg269Pro)	IRGQ (R269P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	CADM4, CEACAM16 +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	ZNF607, ZNF780A +432 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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 42