FOXRED1[gene] - ClinVar - NCBI

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	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 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 57257	GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1	ARHGAP32, CDON +116 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 1287878	NC_000011.10:g.126268860G>A	FOXRED1, LOC130007025 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 303531	NM_017547.3(FOXRED1):c.-163G>C	FOXRED1	Single nucleotide variant	not provided +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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 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 2995310	NM_017547.4(FOXRED1):c.38del (p.Gly13fs)	FOXRED1, LOC130007026 (G13fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1230245	NM_017547.4(FOXRED1):c.85+127T>A	FOXRED1, LOC130007026	Single nucleotide variant (intron variant)	not provided	GBenign
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)	not provided +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

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