Related gene-specific medical variations for Gene (Select 91574) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393123	NM_152269.5(MTRFR):c.424A>G (p.Lys142Glu)	MTRFR (K142E)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 3244330	NC_000012.11:g.(?_123738222)_(123738523_?)del	MTRFR	Deletion	Combined oxidative phosphorylation defect type 7 +1 more	GPathogenic
Select item 2690555	NM_152269.5(MTRFR):c.283-1G>T	MTRFR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1323989	NM_152269.5(MTRFR):c.43C>T (p.Arg15Ter)	MTRFR (R15*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 931369	NM_152269.5(MTRFR):c.215G>C (p.Gly72Ala)	MTRFR (G72A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 55	GUncertain significance
Select item 882667	NM_152269.5(MTRFR):c.-51C>T	MPHOSPH9, MTRFR	Single nucleotide variant (5 prime UTR variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 882666	NM_152269.4(MTRFR):c.-132A>G	MPHOSPH9, MTRFR	Single nucleotide variant (genic upstream transcript variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 882665	NM_152269.4(MTRFR):c.-166T>C	MPHOSPH9, MTRFR	Single nucleotide variant (genic upstream transcript variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 671535	NM_152269.5(MTRFR):c.-29+223C>T	MPHOSPH9, MTRFR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 635867	NM_152269.5(MTRFR):c.-28-1489_283-968del	MTRFR	Deletion (splice acceptor variant +2 more)	Neurodevelopmental disorder	GPathogenic
Select item 307493	NM_152269.4(MTRFR):c.-128C>T	MPHOSPH9, MTRFR	Single nucleotide variant (genic upstream transcript variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance
Select item 307492	NM_152269.4(MTRFR):c.-206G>T	MPHOSPH9, MTRFR	Single nucleotide variant (genic upstream transcript variant)	Combined oxidative phosphorylation defect type 7	GUncertain significance