Related gene-specific medical variations for Gene (Select 55572) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339094	NM_017547.4(FOXRED1):c.85+5A>G	FOXRED1, LOC130007026	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3244776	NC_000011.9:g.(?_126139102)_(126139206_?)del	FOXRED1	Deletion	not provided	GPathogenic
Select item 2995310	NM_017547.4(FOXRED1):c.38del (p.Gly13fs)	FOXRED1, LOC130007026 (G13fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2994596	NM_017547.4(FOXRED1):c.21G>T (p.Pro7=)	FOXRED1, LOC130007026	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974577	NM_017547.4(FOXRED1):c.55C>A (p.Pro19Thr)	FOXRED1, LOC130007026 (P19T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2868237	NM_017547.4(FOXRED1):c.75C>T (p.Gly25=)	FOXRED1, LOC130007026	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2861426	NM_017547.4(FOXRED1):c.39C>A (p.Gly13=)	FOXRED1, LOC130007026	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2830365	NM_017547.4(FOXRED1):c.85+10A>T	FOXRED1, LOC130007026	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2825461	NM_017547.4(FOXRED1):c.85+14C>T	FOXRED1, LOC130007026	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2797221	NM_017547.4(FOXRED1):c.70G>C (p.Gly24Arg)	FOXRED1, LOC130007026 (G24R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2761913	NM_017547.4(FOXRED1):c.81T>C (p.Ser27=)	FOXRED1, LOC130007026	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2724994	NM_017547.4(FOXRED1):c.10A>C (p.Arg4=)	FOXRED1, LOC130007026	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 2441556	NM_017547.4(FOXRED1):c.677G>A (p.Gly226Glu)	FOXRED1 (G226E)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 19	GUncertain significance
Select item 2441555	NM_017547.4(FOXRED1):c.1234_1239del (p.Asp412_Tyr413del)	FOXRED1	Deletion (inframe_deletion +1 more)	Mitochondrial complex 1 deficiency, nuclear type 19	GUncertain significance
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 2154345	NM_017547.4(FOXRED1):c.40C>T (p.Leu14Phe)	FOXRED1, LOC130007026 (L14F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2062015	NM_017547.4(FOXRED1):c.1A>G (p.Met1Val)	FOXRED1, LOC130007026 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2061595	NM_017547.4(FOXRED1):c.22C>T (p.His8Tyr)	FOXRED1, LOC130007026 (H8Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2020966	NM_017547.4(FOXRED1):c.48C>G (p.Thr16=)	FOXRED1, LOC130007026	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1949583	NM_017547.4(FOXRED1):c.85+15G>T	FOXRED1, LOC130007026	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1722932	NM_017547.4(FOXRED1):c.50G>A (p.Arg17Gln)	FOXRED1, LOC130007026 (R17Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 19 +2 more	GUncertain significance
Select item 1668782	NM_017547.4(FOXRED1):c.85+8T>G	FOXRED1, LOC130007026	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1611006	NM_017547.4(FOXRED1):c.16C>T (p.Leu6=)	FOXRED1, LOC130007026	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1568489	NM_017547.4(FOXRED1):c.85+9G>C	FOXRED1, LOC130007026	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1516054	NM_017547.4(FOXRED1):c.27C>T (p.Gly9=)	FOXRED1, LOC130007026	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1380138	NM_017547.4(FOXRED1):c.11G>T (p.Arg4Met)	FOXRED1, LOC130007026 (R4M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1230245	NM_017547.4(FOXRED1):c.85+127T>A	FOXRED1, LOC130007026	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179914	NM_017547.4(FOXRED1):c.85+69A>G	FOXRED1, LOC130007026	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1032748	NM_017547.4(FOXRED1):c.20C>T (p.Pro7Leu)	FOXRED1, LOC130007026 (P7L)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 931237	NM_017547.4(FOXRED1):c.972-3C>A	FOXRED1	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 19	GUncertain significance
Select item 773952	NM_017547.4(FOXRED1):c.42C>A (p.Leu14=)	FOXRED1, LOC130007026	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 756690	NM_017547.4(FOXRED1):c.9G>C (p.Arg3=)	FOXRED1, LOC130007026	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 548593	NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser)	FOXRED1 (P190S)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 507149	NM_017547.4(FOXRED1):c.-15G>A	LOC130007026, FOXRED1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
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 303532	NM_017547.4(FOXRED1):c.-2T>C	FOXRED1, LOC130007026	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 214445	NM_017547.4(FOXRED1):c.7C>T (p.Arg3Trp)	FOXRED1, LOC130007026 (R3W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 214440	NM_017547.4(FOXRED1):c.25G>C (p.Gly9Arg)	FOXRED1, LOC130007026 (G9R)	Single nucleotide variant (missense variant +1 more)	not specified +1 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 156436	NM_017547.4(FOXRED1):c.1341del (p.Ile448fs)	FOXRED1 (I448fs)	Deletion (frameshift variant +1 more)	not provided	Gnot provided
Select item 137400	NM_017547.4(FOXRED1):c.9G>A (p.Arg3=)	LOC130007026, FOXRED1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 42