"Illumina Laboratory Services, Illumina"[submitter] AND "FOXRED1"[gene - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 303531	NM_017547.3(FOXRED1):c.-163G>C	FOXRED1	Single nucleotide variant	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 879828	NM_017547.3(FOXRED1):c.-151C>A	FOXRED1	Single nucleotide variant	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 214438	NM_017547.4(FOXRED1):c.-31A>G	FOXRED1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 303532	NM_017547.4(FOXRED1):c.-2T>C	FOXRED1, LOC130007026	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 137400	NM_017547.4(FOXRED1):c.9G>A (p.Arg3=)	LOC130007026, FOXRED1	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 214439	NM_017547.4(FOXRED1):c.10A>G (p.Arg4Gly)	FOXRED1, LOC130007026 (R4G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 303533	NM_017547.4(FOXRED1):c.35G>C (p.Arg12Pro)	FOXRED1, LOC130007026 (R12P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 129112	NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln)	FOXRED1 (K42Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 303534	NM_017547.4(FOXRED1):c.192G>A (p.Ser64=)	FOXRED1	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 303535	NM_017547.4(FOXRED1):c.296G>A (p.Arg99Gln)	FOXRED1 (R99Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 214444	NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met)	FOXRED1 (T102M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 516088	NM_017547.4(FOXRED1):c.307-14T>C	FOXRED1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 878053	NM_017547.4(FOXRED1):c.318C>T (p.Ala106=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 878054	NM_017547.4(FOXRED1):c.417+6T>C	FOXRED1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 703853	NM_017547.4(FOXRED1):c.417+10A>G	FOXRED1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 632155	NM_017547.4(FOXRED1):c.418-1G>T	FOXRED1	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 137399	NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile)	FOXRED1 (V145I)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 214437	NM_017547.4(FOXRED1):c.435C>T (p.Val145=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 878055	NM_017547.4(FOXRED1):c.457C>T (p.Arg153Trp)	FOXRED1 (R153W)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 509772	NM_017547.4(FOXRED1):c.537-11G>A	FOXRED1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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)	Mitochondrial complex I deficiency +5 more	GConflicting classifications of pathogenicity
Select item 303537	NM_017547.4(FOXRED1):c.658C>T (p.Pro220Ser)	FOXRED1 (P220S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 303538	NM_017547.4(FOXRED1):c.662G>T (p.Trp221Leu)	FOXRED1 (W221L)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 303539	NM_017547.4(FOXRED1):c.833A>G (p.Glu278Gly)	FOXRED1 (E278G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 303540	NM_017547.4(FOXRED1):c.857T>C (p.Ile286Thr)	FOXRED1 (I286T)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 303541	NM_017547.4(FOXRED1):c.887C>T (p.Ala296Val)	FOXRED1 (A296V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 303542	NM_017547.4(FOXRED1):c.921G>A (p.Gly307=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 303543	NM_017547.4(FOXRED1):c.952C>T (p.Pro318Ser)	FOXRED1 (P318S)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 137401	NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
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 303544	NM_017547.4(FOXRED1):c.1138C>G (p.His380Asp)	FOXRED1 (H380D)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 137402	NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg)	FOXRED1 (H380R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 879885	NM_017547.4(FOXRED1):c.1167C>T (p.Pro389=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 214451	NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)	FOXRED1 (L391V)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 303545	NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe)	FOXRED1 (V395F)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 877946	NM_017547.4(FOXRED1):c.1225G>A (p.Gly409Ser)	FOXRED1 (G409S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 499932	NM_017547.4(FOXRED1):c.1378A>G (p.Arg460Gly)	FOXRED1 (R460G)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 877947	NM_017547.4(FOXRED1):c.*71A>G	FOXRED1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 303546	NM_017547.4(FOXRED1):c.*85T>C	FOXRED1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 877948	NM_017547.4(FOXRED1):c.*93G>A	FOXRED1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GLikely benign
Select item 303547	NM_017547.4(FOXRED1):c.*113G>A	FOXRED1	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 303548	NM_017547.4(FOXRED1):c.*129C>G	FOXRED1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 303549	NM_017547.4(FOXRED1):c.*159C>T	FOXRED1	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 303550	NM_017547.4(FOXRED1):c.*190T>C	FOXRED1	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign/Likely benign
Select item 878109	NM_017547.4(FOXRED1):c.*211T>C	FOXRED1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 878110	NM_017547.4(FOXRED1):c.*374T>G	FOXRED1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 303551	NM_017547.4(FOXRED1):c.*392G>A	FOXRED1	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 303552	NM_017547.4(FOXRED1):c.*432T>G	FOXRED1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic

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Items: 51