IRGC[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	PHLDB3, PINLYP +55 more	Copy number gain	See cases	GUncertain significance
Select item 2400940	NM_019612.4(IRGC):c.19C>T (p.Pro7Ser)	IRGC (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110884	NM_019612.4(IRGC):c.22G>A (p.Val8Met)	IRGC (V8M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528815	NM_019612.4(IRGC):c.49A>G (p.Ile17Val)	IRGC (I17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471815	NM_019612.4(IRGC):c.179C>T (p.Thr60Met)	IRGC (T60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408677	NM_019612.4(IRGC):c.187T>C (p.Ser63Pro)	IRGC (S63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609448	NM_019612.4(IRGC):c.248G>C (p.Gly83Ala)	IRGC (G83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110885	NM_019612.4(IRGC):c.319G>T (p.Val107Leu)	IRGC (V107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650067	NM_019612.4(IRGC):c.357C>T (p.Gly119=)	IRGC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2401484	NM_019612.4(IRGC):c.376C>G (p.Leu126Val)	IRGC (L126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110886	NM_019612.4(IRGC):c.397C>T (p.Arg133Cys)	IRGC (R133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212581	NM_019612.4(IRGC):c.421T>G (p.Ser141Ala)	IRGC (S141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367746	NM_019612.4(IRGC):c.427C>T (p.Arg143Cys)	IRGC (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486784	NM_019612.4(IRGC):c.431G>A (p.Arg144His)	IRGC (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260103	NM_019612.4(IRGC):c.442G>A (p.Val148Ile)	IRGC (V148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286546	NM_019612.4(IRGC):c.449C>T (p.Thr150Ile)	IRGC (T150I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407936	NM_019612.4(IRGC):c.452G>A (p.Arg151His)	IRGC (R151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278310	NM_019612.4(IRGC):c.542G>A (p.Arg181Gln)	IRGC (R181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712988	NM_019612.4(IRGC):c.561G>A (p.Glu187=)	IRGC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3110888	NM_019612.4(IRGC):c.595G>A (p.Ala199Thr)	IRGC (A199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110889	NM_019612.4(IRGC):c.629C>G (p.Pro210Arg)	IRGC (P210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286545	NM_019612.4(IRGC):c.719G>A (p.Arg240Gln)	IRGC (R240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253225	NM_019612.4(IRGC):c.769C>G (p.Gln257Glu)	IRGC (Q257E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286547	NM_019612.4(IRGC):c.817G>A (p.Val273Met)	IRGC (V273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389555	NM_019612.4(IRGC):c.862G>A (p.Ala288Thr)	IRGC (A288T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210297	NM_019612.4(IRGC):c.911G>T (p.Ser304Ile)	IRGC (S304I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650068	NM_019612.4(IRGC):c.957G>C (p.Val319=)	IRGC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2382886	NM_019612.4(IRGC):c.971G>A (p.Gly324Asp)	IRGC (G324D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650069	NM_019612.4(IRGC):c.984G>A (p.Ser328=)	IRGC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3110882	NM_019612.4(IRGC):c.1009G>A (p.Glu337Lys)	IRGC (E337K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466315	NM_019612.4(IRGC):c.1049C>T (p.Ser350Leu)	IRGC (S350L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614358	NM_019612.4(IRGC):c.1114G>C (p.Val372Leu)	IRGC (V372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244454	NM_019612.4(IRGC):c.1123G>A (p.Gly375Ser)	IRGC (G375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288156	NM_019612.4(IRGC):c.1138G>A (p.Ala380Thr)	IRGC (A380T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455847	NM_019612.4(IRGC):c.1276G>C (p.Gly426Arg)	IRGC (G426R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358722	NM_019612.4(IRGC):c.1280G>A (p.Gly427Asp)	IRGC (G427D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370034	NM_019612.4(IRGC):c.1285G>A (p.Gly429Arg)	IRGC (G429R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287440	NM_019612.4(IRGC):c.1298G>A (p.Gly433Glu)	IRGC (G433E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391480	NM_019612.4(IRGC):c.1365G>C (p.Trp455Cys)	IRGC (W455C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379670	NM_019612.4(IRGC):c.1368G>C (p.Lys456Asn)	IRGC (K456N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110883	NM_019612.4(IRGC):c.1379C>T (p.Ser460Leu)	IRGC (S460L)	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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
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

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Items: 48