"Baylor Genetics"[submitter] AND "FOXRED1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1505904	NM_017547.4(FOXRED1):c.449T>G (p.Leu150Arg)	FOXRED1 (L150R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 19 +1 more	GUncertain significance
Select item 1032749	NM_017547.4(FOXRED1):c.734-1G>C	FOXRED1	Single nucleotide variant (splice acceptor variant)	Leigh syndrome	GLikely pathogenic
Select item 1029471	NM_017547.4(FOXRED1):c.943A>G (p.Thr315Ala)	FOXRED1 (T315A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 625594	GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)	ACAD8, ACRV1 +51 more	Copy number loss	11q partial monosomy syndrome	GPathogenic