"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 697230	NM_152269.5(MTRFR):c.54G>A (p.Pro18=)	MTRFR	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1344255	NM_152269.5(MTRFR):c.110C>T (p.Ala37Val)	MTRFR (A37V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344256	NM_152269.5(MTRFR):c.212G>C (p.Gly71Ala)	MTRFR (G71A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 697718	NM_152269.5(MTRFR):c.234C>A (p.Thr78=)	MTRFR	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 136595	NM_152269.5(MTRFR):c.243C>T (p.Cys81=)	MTRFR	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 7 +4 more	GConflicting classifications of pathogenicity
Select item 747727	NM_152269.5(MTRFR):c.246G>A (p.Val82=)	MTRFR	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 698233	NM_152269.5(MTRFR):c.309G>A (p.Gln103=)	MTRFR	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 1344257	NM_152269.5(MTRFR):c.333C>A (p.Ile111=)	MTRFR	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 136596	NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)	MTRFR (K138R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 7 +4 more	GConflicting classifications of pathogenicity
Select item 1344258	NM_152269.5(MTRFR):c.433G>A (p.Ala145Thr)	MTRFR (A145T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance