IFFO2[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 2284474	NM_001136265.2(IFFO2):c.1525G>A (p.Glu509Lys)	IFFO2 (E509K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287369	NM_001136265.2(IFFO2):c.1523G>A (p.Arg508His)	IFFO2 (R508H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374504	NM_001136265.2(IFFO2):c.1522C>T (p.Arg508Cys)	IFFO2 (R508C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459472	NM_001136265.2(IFFO2):c.1457C>T (p.Pro486Leu)	IFFO2 (P486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365757	NM_001136265.2(IFFO2):c.1423C>T (p.Arg475Trp)	IFFO2 (R475W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395778	NM_001136265.2(IFFO2):c.1402G>A (p.Val468Met)	IFFO2 (V468M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108105	NM_001136265.2(IFFO2):c.1277C>T (p.Thr426Met)	IFFO2 (T426M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560928	NM_001136265.2(IFFO2):c.1208T>A (p.Ile403Asn)	IFFO2 (I403N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108104	NM_001136265.2(IFFO2):c.1201C>T (p.Pro401Ser)	IFFO2 (P401S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458975	NM_001136265.2(IFFO2):c.1196G>C (p.Cys399Ser)	IFFO2 (C399S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538531	NM_001136265.2(IFFO2):c.1145C>T (p.Thr382Met)	IFFO2 (T382M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594247	NM_001136265.2(IFFO2):c.1087C>T (p.Arg363Cys)	IFFO2 (R363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474156	NM_001136265.2(IFFO2):c.1073C>A (p.Thr358Asn)	IFFO2 (T358N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242202	NM_001136265.2(IFFO2):c.1036C>T (p.Arg346Trp)	IFFO2 (R346W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479122	NM_001136265.2(IFFO2):c.978G>T (p.Lys326Asn)	IFFO2 (K326N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608572	NM_001136265.2(IFFO2):c.942A>C (p.Glu314Asp)	IFFO2 (E314D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335244	NM_001136265.2(IFFO2):c.932G>A (p.Arg311Gln)	IFFO2 (R311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219722	NM_001136265.2(IFFO2):c.824C>G (p.Pro275Arg)	IFFO2 (P275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339483	NM_001136265.2(IFFO2):c.734A>G (p.Gln245Arg)	IFFO2 (Q245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108110	NM_001136265.2(IFFO2):c.693G>T (p.Met231Ile)	IFFO2 (M231I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599594	NM_001136265.2(IFFO2):c.682G>A (p.Ala228Thr)	IFFO2 (A228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285284	NM_001136265.2(IFFO2):c.606C>G (p.Ile202Met)	IFFO2 (I202M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296209	NM_001136265.2(IFFO2):c.467G>T (p.Arg156Leu)	IFFO2, LOC129929560 (R156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383372	NM_001136265.2(IFFO2):c.424G>C (p.Gly142Arg)	IFFO2, LOC129929560 (G142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482189	NM_001136265.2(IFFO2):c.379A>C (p.Ser127Arg)	IFFO2, LOC129929560 (S127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518124	NM_001136265.2(IFFO2):c.378C>A (p.Ser126Arg)	IFFO2, LOC129929560 (S126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381746	NM_001136265.2(IFFO2):c.364G>C (p.Gly122Arg)	IFFO2, LOC129929560 (G122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602738	NM_001136265.2(IFFO2):c.355C>A (p.Pro119Thr)	IFFO2, LOC129929560 (P119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286991	NM_001136265.2(IFFO2):c.334G>A (p.Glu112Lys)	IFFO2, LOC129929560 (E112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285286	NM_001136265.2(IFFO2):c.329G>T (p.Gly110Val)	IFFO2, LOC129929560 (G110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108108	NM_001136265.2(IFFO2):c.293A>G (p.Tyr98Cys)	IFFO2, LOC129929560 (Y98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108106	NM_001136265.2(IFFO2):c.154T>G (p.Ser52Ala)	IFFO2 (S52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374708	NM_001136265.2(IFFO2):c.154T>A (p.Ser52Thr)	IFFO2 (S52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285285	NM_001136265.2(IFFO2):c.151G>T (p.Gly51Cys)	IFFO2 (G51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285283	NM_001136265.2(IFFO2):c.88G>A (p.Gly30Ser)	IFFO2 (G30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395884	NM_001136265.2(IFFO2):c.67G>A (p.Gly23Arg)	IFFO2 (G23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232466	NM_001136265.2(IFFO2):c.64G>T (p.Gly22Cys)	IFFO2 (G22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312614	NM_001136265.2(IFFO2):c.38C>T (p.Ala13Val)	IFFO2 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332218	NM_001136265.2(IFFO2):c.28A>G (p.Met10Val)	IFFO2 (M10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108107	NM_001136265.2(IFFO2):c.23G>A (p.Gly8Glu)	IFFO2 (G8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247990	NC_000001.10:g.(?_19228936)_(19578003_?)dup	ALDH4A1, EMC1 +2 more	Duplication	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 688089	GRCh37/hg19 1p36.13(chr1:18778080-19523646)x3	ALDH4A1, IFFO2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 63