FOXRED1[gene] and "single gene"[properties] - ClinVar - NCBI

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	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 1199467	NC_000011.10:g.126269114C>G	FOXRED1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 214455	NM_017547.4(FOXRED1):c.-35G>A	FOXRED1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 506369	NM_017547.4(FOXRED1):c.-30G>A	FOXRED1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 678089	NM_017547.4(FOXRED1):c.86-198_86-197insAAGG	FOXRED1	Insertion (intron variant)	not provided	GBenign
Select item 1186864	NM_017547.4(FOXRED1):c.86-145C>T	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189842	NM_017547.4(FOXRED1):c.86-29G>T	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848739	NM_017547.4(FOXRED1):c.86-19C>T	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873606	NM_017547.4(FOXRED1):c.86-17C>T	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751302	NM_017547.4(FOXRED1):c.86-13C>T	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832195	NM_017547.4(FOXRED1):c.86-10C>T	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776057	NM_017547.4(FOXRED1):c.86-7C>T	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909318	NM_017547.4(FOXRED1):c.86-5C>G	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757456	NM_017547.4(FOXRED1):c.86-1G>C	FOXRED1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 214454	NM_017547.4(FOXRED1):c.86-1G>A	FOXRED1	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 19 +1 more	GPathogenic/Likely pathogenic
Select item 806756	NM_017547.4(FOXRED1):c.100G>A (p.Val34Met)	FOXRED1 (V34M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2695938	NM_017547.4(FOXRED1):c.105T>A (p.Ser35=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 741096	NM_017547.4(FOXRED1):c.105T>G (p.Ser35=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2726389	NM_017547.4(FOXRED1):c.111T>C (p.Ile37=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012439	NM_017547.4(FOXRED1):c.123C>A (p.Ile41=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1952759	NM_017547.4(FOXRED1):c.123C>G (p.Ile41Met)	FOXRED1 (I41M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 1921480	NM_017547.4(FOXRED1):c.128C>T (p.Ser43Leu)	FOXRED1 (S43L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2724765	NM_017547.4(FOXRED1):c.129G>T (p.Ser43=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2716536	NM_017547.4(FOXRED1):c.129G>A (p.Ser43=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2692605	NM_017547.4(FOXRED1):c.135G>A (p.Leu45=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642528	NM_017547.4(FOXRED1):c.135G>T (p.Leu45=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2079248	NM_017547.4(FOXRED1):c.139G>A (p.Gly47Arg)	FOXRED1 (G47R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2866911	NM_017547.4(FOXRED1):c.142A>C (p.Arg48=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1417529	NM_017547.4(FOXRED1):c.143G>A (p.Arg48Lys)	FOXRED1 (R48K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2749482	NM_017547.4(FOXRED1):c.154C>T (p.Leu52=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2799502	NM_017547.4(FOXRED1):c.159G>A (p.Leu53=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881965	NM_017547.4(FOXRED1):c.168C>A (p.Thr56=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985435	NM_017547.4(FOXRED1):c.183C>T (p.Pro61=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781249	NM_017547.4(FOXRED1):c.184G>T (p.Glu62Ter)	FOXRED1 (E62*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 2051801	NM_017547.4(FOXRED1):c.191C>T (p.Ser64Leu)	FOXRED1 (S64L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 303534	NM_017547.4(FOXRED1):c.192G>A (p.Ser64=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 3009137	NM_017547.4(FOXRED1):c.198G>A (p.Val66=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2722911	NM_017547.4(FOXRED1):c.204C>T (p.Ile68=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 915282	NM_017547.4(FOXRED1):c.209G>C (p.Gly70Ala)	FOXRED1 (G70A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 19	GLikely pathogenic
Select item 2084469	NM_017547.4(FOXRED1):c.216G>A (p.Gly72=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876234	NM_017547.4(FOXRED1):c.219G>A (p.Val73=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2877637	NM_017547.4(FOXRED1):c.226T>C (p.Leu76=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 214443	NM_017547.4(FOXRED1):c.239A>G (p.Tyr80Cys)	FOXRED1 (Y80C)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 2728458	NM_017547.4(FOXRED1):c.255G>A (p.Leu85=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2847422	NM_017547.4(FOXRED1):c.258G>A (p.Glu86=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1492036	NM_017547.4(FOXRED1):c.260G>C (p.Ser87Thr)	FOXRED1 (S87T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3006374	NM_017547.4(FOXRED1):c.264A>G (p.Arg88=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2501225	NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)	FOXRED1 (R89*)	Single nucleotide variant (nonsense +1 more)	Leigh syndrome	GLikely pathogenic
Select item 1439155	NM_017547.4(FOXRED1):c.266G>A (p.Arg89Gln)	FOXRED1 (R89Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2806130	NM_017547.4(FOXRED1):c.277C>T (p.Arg93Ter)	FOXRED1 (R93*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2683173	NM_017547.4(FOXRED1):c.278G>A (p.Arg93Gln)	FOXRED1 (R93Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2859800	NM_017547.4(FOXRED1):c.285A>C (p.Leu95=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2077472	NM_017547.4(FOXRED1):c.295C>T (p.Arg99Trp)	FOXRED1 (R99W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2749306	NM_017547.4(FOXRED1):c.297G>A (p.Arg99=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 594786	NM_017547.4(FOXRED1):c.301C>A (p.His101Asn)	FOXRED1 (H101N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214444	NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met)	FOXRED1 (T102M)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2067035	NM_017547.4(FOXRED1):c.306G>A (p.Thr102=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2863412	NM_017547.4(FOXRED1):c.306+2T>G	FOXRED1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2697139	NM_017547.4(FOXRED1):c.306+18G>A	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856040	NM_017547.4(FOXRED1):c.306+22_306+23del	FOXRED1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1188092	NM_017547.4(FOXRED1):c.306+71G>A	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214701	NM_017547.4(FOXRED1):c.306+322dup	FOXRED1	Duplication (intron variant)	not provided	GLikely benign
Select item 1188009	NM_017547.4(FOXRED1):c.306+322del	FOXRED1	Deletion (intron variant)	not provided	GLikely benign
Select item 1220895	NM_017547.4(FOXRED1):c.307-100C>T	FOXRED1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1343011	NM_017547.4(FOXRED1):c.307-38G>A	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797331	NM_017547.4(FOXRED1):c.307-20C>T	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709006	NM_017547.4(FOXRED1):c.307-20C>A	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697566	NM_017547.4(FOXRED1):c.307-19T>G	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805727	NM_017547.4(FOXRED1):c.307-16T>C	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804640	NM_017547.4(FOXRED1):c.307-14T>A	FOXRED1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516088	NM_017547.4(FOXRED1):c.307-14T>C	FOXRED1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 432155	NM_017547.4(FOXRED1):c.313C>T (p.Gln105Ter)	FOXRED1 (Q105*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3279690	NM_017547.4(FOXRED1):c.314A>G (p.Gln105Arg)	FOXRED1 (Q105R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 2160051	NM_017547.4(FOXRED1):c.325_329del (p.Gly109fs)	FOXRED1 (G109fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2897384	NM_017547.4(FOXRED1):c.327G>C (p.Gly109=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2768339	NM_017547.4(FOXRED1):c.332C>G (p.Ser111Ter)	FOXRED1 (S111*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2725449	NM_017547.4(FOXRED1):c.336A>G (p.Val112=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879503	NM_017547.4(FOXRED1):c.342G>A (p.Gly114=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2839966	NM_017547.4(FOXRED1):c.343del (p.Ile115fs)	FOXRED1 (I115fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 992942	NM_017547.4(FOXRED1):c.352C>T (p.Gln118Ter)	FOXRED1 (Q118*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial encephalopathy	GPathogenic
Select item 2875314	NM_017547.4(FOXRED1):c.354G>A (p.Gln118=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2441557	NM_017547.4(FOXRED1):c.354G>C (p.Gln118His)	FOXRED1 (Q118H)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 19	GUncertain significance
Select item 2040444	NM_017547.4(FOXRED1):c.372C>T (p.Asn124=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 450993	NM_017547.4(FOXRED1):c.379C>T (p.Leu127Phe)	FOXRED1 (L127F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2759101	NM_017547.4(FOXRED1):c.381C>G (p.Leu127=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2828419	NM_017547.4(FOXRED1):c.392C>A (p.Ser131Ter)	FOXRED1 (S131*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2037698	NM_017547.4(FOXRED1):c.395C>T (p.Ala132Val)	FOXRED1 (A132V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 372745	NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp)	FOXRED1 (R136W)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 19 +2 more	GPathogenic/Likely pathogenic
Select item 1402874	NM_017547.4(FOXRED1):c.407G>A (p.Arg136Gln)	FOXRED1 (R136Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2877469	NM_017547.4(FOXRED1):c.411C>T (p.Asn137=)	FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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