"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MTRFR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2067895	NM_152269.5(MTRFR):c.26T>C (p.Phe9Ser)	MTRFR (F9S)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 128535	NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln)	MTRFR (R15Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign
Select item 307495	NM_152269.5(MTRFR):c.56C>T (p.Ala19Val)	MTRFR (A19V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 307497	NM_152269.5(MTRFR):c.112G>A (p.Val38Ile)	MTRFR (V38I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 54	NM_152269.5(MTRFR):c.210del (p.Gly72fs)	MTRFR (G72fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 7 +2 more	GPathogenic/Likely pathogenic
Select item 262628	NM_152269.5(MTRFR):c.273C>T (p.Ile91=)	MTRFR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 547960	NM_152269.5(MTRFR):c.347T>C (p.Val116Ala)	MTRFR (V116A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 55 +1 more	GUncertain significance
Select item 2579721	NM_152269.5(MTRFR):c.370A>T (p.Asn124Tyr)	MTRFR (N124Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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