"Ambry Genetics"[submitter] AND "FOXRED1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2338378	NM_017547.4(FOXRED1):c.26G>A (p.Gly9Asp)	FOXRED1, LOC130007026 (G9D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1722932	NM_017547.4(FOXRED1):c.50G>A (p.Arg17Gln)	FOXRED1, LOC130007026 (R17Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 806756	NM_017547.4(FOXRED1):c.100G>A (p.Val34Met)	FOXRED1 (V34M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1952759	NM_017547.4(FOXRED1):c.123C>G (p.Ile41Met)	FOXRED1 (I41M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 916401	NM_017547.4(FOXRED1):c.184G>A (p.Glu62Lys)	FOXRED1 (E62K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1417961	NM_017547.4(FOXRED1):c.205G>A (p.Val69Met)	FOXRED1 (V69M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2462082	NM_017547.4(FOXRED1):c.224G>C (p.Gly75Ala)	FOXRED1 (G75A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213270	NM_017547.4(FOXRED1):c.254T>C (p.Leu85Pro)	FOXRED1 (L85P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 806757	NM_017547.4(FOXRED1):c.286G>T (p.Val96Leu)	FOXRED1 (V96L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1137282	NM_017547.4(FOXRED1):c.470C>T (p.Ser157Leu)	FOXRED1 (S157L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2228986	NM_017547.4(FOXRED1):c.530_534del (p.Val177fs)	FOXRED1 (V177fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 879517	NM_017547.4(FOXRED1):c.551A>G (p.Lys184Arg)	FOXRED1 (K184R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 303536	NM_017547.4(FOXRED1):c.580C>T (p.Arg194Trp)	FOXRED1 (R194W)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 95754	NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)	FOXRED1 (A206fs)	Duplication (frameshift variant +1 more)	Leigh syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1460553	NM_017547.4(FOXRED1):c.675G>T (p.Gln225His)	FOXRED1 (Q225H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2305981	NM_017547.4(FOXRED1):c.704G>A (p.Gly235Glu)	FOXRED1 (G235E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 445528	NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys)	FOXRED1 (R252C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 449732	NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg)	FOXRED1 (G292R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 19 +2 more	GConflicting classifications of pathogenicity
Select item 3096606	NM_017547.4(FOXRED1):c.905C>T (p.Ala302Val)	FOXRED1 (A115V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407341	NM_017547.4(FOXRED1):c.1019C>T (p.Pro340Leu)	FOXRED1 (P340L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 31048	NM_017547.4(FOXRED1):c.1054C>T (p.Arg352Trp)	FOXRED1 (R352W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 2454493	NM_017547.4(FOXRED1):c.1067G>A (p.Gly356Asp)	FOXRED1 (G356D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 214450	NM_017547.4(FOXRED1):c.1088G>A (p.Arg363His)	FOXRED1 (R363H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 504104	NM_017547.4(FOXRED1):c.1102C>T (p.Gln368Ter)	FOXRED1 (Q368*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1696346	NM_017547.4(FOXRED1):c.1112C>T (p.Pro371Leu)	FOXRED1 (P371L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 879884	NM_017547.4(FOXRED1):c.1121C>T (p.Ala374Val)	FOXRED1 (A374V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2229118	NM_017547.4(FOXRED1):c.1237T>C (p.Tyr413His)	FOXRED1 (Y413H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 214456	NM_017547.4(FOXRED1):c.1252C>G (p.Gln418Glu)	FOXRED1 (Q418E)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3096604	NM_017547.4(FOXRED1):c.1446G>C (p.Glu482Asp)	FOXRED1 (E270D +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 452423	NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn)	FOXRED1 (I485N)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +3 more	GUncertain significance

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Items: 30