FDXACB1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2460284	NM_138378.3(FDXACB1):c.1819A>G (p.Met607Val)	FDXACB1 (M607V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358024	NM_138378.3(FDXACB1):c.1787A>G (p.Asp596Gly)	FDXACB1 (D596G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094341	NM_138378.3(FDXACB1):c.1696A>G (p.Thr566Ala)	FDXACB1 (T566A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317349	NM_138378.3(FDXACB1):c.1679G>A (p.Arg560Gln)	FDXACB1 (R560Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278458	NM_138378.3(FDXACB1):c.1629G>C (p.Trp543Cys)	FDXACB1 (W543C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470934	NM_138378.3(FDXACB1):c.1604G>A (p.Cys535Tyr)	FDXACB1 (C535Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557857	NM_138378.3(FDXACB1):c.1570G>A (p.Glu524Lys)	FDXACB1 (E524K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299020	NM_138378.3(FDXACB1):c.1551T>A (p.Asn517Lys)	FDXACB1 (N517K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094340	NM_138378.3(FDXACB1):c.1526C>T (p.Thr509Met)	FDXACB1 (T509M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094339	NM_138378.3(FDXACB1):c.1507G>C (p.Asp503His)	FDXACB1 (D503H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094338	NM_138378.3(FDXACB1):c.1486A>G (p.Met496Val)	FDXACB1 (M496V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216731	NM_138378.3(FDXACB1):c.1433T>C (p.Ile478Thr)	FDXACB1 (I478T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278454	NM_138378.3(FDXACB1):c.1414A>T (p.Thr472Ser)	FDXACB1 (T472S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541052	NM_138378.3(FDXACB1):c.1405T>C (p.Ser469Pro)	FDXACB1 (S469P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477575	NM_138378.3(FDXACB1):c.1375C>T (p.Pro459Ser)	FDXACB1 (P459S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250928	NM_138378.3(FDXACB1):c.1318G>T (p.Val440Phe)	FDXACB1 (V440F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278450	NM_138378.3(FDXACB1):c.1295A>G (p.Lys432Arg)	FDXACB1 (K432R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373824	NM_138378.3(FDXACB1):c.1282C>A (p.Pro428Thr)	FDXACB1 (P428T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278453	NM_138378.3(FDXACB1):c.1187T>C (p.Ile396Thr)	FDXACB1 (I396T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094336	NM_138378.3(FDXACB1):c.1124C>G (p.Pro375Arg)	FDXACB1 (P375R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485656	NM_138378.3(FDXACB1):c.1108C>G (p.His370Asp)	FDXACB1 (H370D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392655	NM_138378.3(FDXACB1):c.1069G>A (p.Asp357Asn)	FDXACB1 (D357N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094335	NM_138378.3(FDXACB1):c.1022G>A (p.Gly341Asp)	FDXACB1 (G341D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094348	NM_138378.3(FDXACB1):c.991G>A (p.Gly331Ser)	FDXACB1 (G331S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3278455	NM_138378.3(FDXACB1):c.967C>T (p.Leu323Phe)	FDXACB1 (L323F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278456	NM_138378.3(FDXACB1):c.949T>A (p.Ser317Thr)	FDXACB1 (S317T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094347	NM_138378.3(FDXACB1):c.857C>T (p.Ser286Leu)	FDXACB1 (S286L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556355	NM_138378.3(FDXACB1):c.832C>G (p.Pro278Ala)	FDXACB1 (P278A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094346	NM_138378.3(FDXACB1):c.806T>C (p.Leu269Pro)	FDXACB1 (L269P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604726	NM_138378.3(FDXACB1):c.671C>T (p.Ala224Val)	FDXACB1 (A224V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260797	NM_138378.3(FDXACB1):c.668A>G (p.Glu223Gly)	FDXACB1 (E223G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522886	NM_138378.3(FDXACB1):c.635T>C (p.Leu212Pro)	FDXACB1 (L212P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278451	NM_138378.3(FDXACB1):c.595C>T (p.Pro199Ser)	FDXACB1 (P199S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094344	NM_138378.3(FDXACB1):c.577A>G (p.Ile193Val)	FDXACB1 (I193V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2602827	NM_138378.3(FDXACB1):c.406A>C (p.Lys136Gln)	FDXACB1 (K136Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642368	NM_138378.3(FDXACB1):c.402G>A (p.Ala134=)	FDXACB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2544310	NM_138378.3(FDXACB1):c.380G>C (p.Arg127Thr)	FDXACB1 (R127T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094343	NM_138378.3(FDXACB1):c.332G>A (p.Cys111Tyr)	FDXACB1 (C111Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307335	NM_138378.3(FDXACB1):c.265C>T (p.Pro89Ser)	FDXACB1 (P89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094342	NM_138378.3(FDXACB1):c.245A>G (p.Asp82Gly)	FDXACB1 (D82G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352965	NM_138378.3(FDXACB1):c.181G>A (p.Val61Ile)	FDXACB1 (V61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227370	NM_138378.3(FDXACB1):c.149A>G (p.Asn50Ser)	FDXACB1 (N50S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278452	NM_138378.3(FDXACB1):c.144G>C (p.Trp48Cys)	FDXACB1 (W48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609312	NM_138378.3(FDXACB1):c.120G>C (p.Glu40Asp)	FDXACB1 (E40D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2544588	NM_138378.3(FDXACB1):c.119A>G (p.Glu40Gly)	FDXACB1 (E40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268328	NM_138378.3(FDXACB1):c.70C>G (p.Leu24Val)	FDXACB1 (L24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259390	NM_138378.3(FDXACB1):c.37A>C (p.Asn13His)	FDXACB1 (N13H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2426878	NC_000011.9:g.(?_111657121)_(111922093_?)del	ALG9, C11orf52 +6 more	Deletion	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2424604	NC_000011.9:g.(?_111171709)_(111958707_?)del	ALG9, BTG4 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2424602	NC_000011.9:g.(?_111171709)_(111959745_?)del	ALG9, BTG4 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2422869	NC_000011.9:g.(?_111171709)_(112104278_?)dup	BCO2, ALG9 +24 more	Duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1003647	NC_000011.9:g.(?_111171709)_(111965694_?)dup	ALG9, BTG4 +20 more	Duplication	Paragangliomas 1 +3 more	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831566	NC_000011.9:g.(?_111171709)_(111965694_?)del	DIXDC1, DLAT +20 more	Deletion	Cowden syndrome 3 +3 more	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 221481	GRCh37/hg19 11q23.1(chr11:111735939-111784393)x3	ALG9, CFAP68 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 70