FDX1[gene] - ClinVar

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Items: 32

	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 3094327	NM_004109.5(FDX1):c.10G>T (p.Ala4Ser)	FDX1, LOC130006726 (A4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342494	NM_004109.5(FDX1):c.13G>A (p.Gly5Arg)	FDX1, LOC130006726 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094331	NM_004109.5(FDX1):c.61G>C (p.Ala21Pro)	FDX1, LOC130006726 (A21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094332	NM_004109.5(FDX1):c.62C>G (p.Ala21Gly)	FDX1, LOC130006726 (A21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301542	NM_004109.5(FDX1):c.62C>T (p.Ala21Val)	FDX1, LOC130006726 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278449	NM_004109.5(FDX1):c.67C>T (p.Arg23Trp)	FDX1, LOC130006726 (R23W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278447	NM_004109.5(FDX1):c.74T>C (p.Leu25Pro)	FDX1, LOC130006726 (L25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094333	NM_004109.5(FDX1):c.79C>G (p.His27Asp)	FDX1, LOC130006726 (H27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346069	NM_004109.5(FDX1):c.122G>C (p.Arg41Pro)	FDX1, LOC130006726 (R41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094328	NM_004109.5(FDX1):c.125G>A (p.Gly42Glu)	FDX1, LOC130006726 (G42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094329	NM_004109.5(FDX1):c.274G>A (p.Val92Ile)	FDX1 (V92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299062	NM_004109.5(FDX1):c.296A>G (p.Asp99Gly)	FDX1 (D99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278448	NM_004109.5(FDX1):c.367A>G (p.Ile123Val)	FDX1 (I123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373652	NM_004109.5(FDX1):c.388A>G (p.Ile130Val)	FDX1 (I130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709108	NM_004109.5(FDX1):c.414C>T (p.Leu138=)	FDX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2259456	NM_004109.5(FDX1):c.472A>G (p.Lys158Glu)	FDX1 (K158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094330	NM_004109.5(FDX1):c.532A>G (p.Ile178Val)	FDX1 (I178V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457050	NM_004109.5(FDX1):c.538G>A (p.Val180Met)	FDX1 (V180M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
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 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 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 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

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Items: 32