"GeneDx"[submitter] AND "MTRFR"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
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 680559	NM_152269.5(MTRFR):c.-28-261G>T	MTRFR	Single nucleotide variant (intron variant)	not provided	GBenign
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 307494	NM_152269.5(MTRFR):c.34C>T (p.Pro12Ser)	MTRFR (P12S)	Single nucleotide variant (missense variant)	not provided +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 2412984	NM_152269.5(MTRFR):c.47T>C (p.Ile16Thr)	MTRFR (I16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1309118	NM_152269.5(MTRFR):c.71G>T (p.Arg24Leu)	MTRFR (R24L)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 1212115	NM_152269.5(MTRFR):c.71G>A (p.Arg24Gln)	MTRFR (R24Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 214192	NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs)	MTRFR (P34fs)	Duplication (frameshift variant)	Combined oxidative phosphorylation defect type 7 +3 more	GPathogenic
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 518004	NM_152269.5(MTRFR):c.120G>A (p.Pro40=)	MTRFR	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GLikely benign
Select item 517073	NM_152269.5(MTRFR):c.162C>A (p.Ser54=)	MTRFR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 451809	NM_152269.5(MTRFR):c.205G>A (p.Gly69Ser)	MTRFR (G69S)	Single nucleotide variant (missense variant)	not provided	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 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 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 214193	NM_152269.5(MTRFR):c.244G>T (p.Val82Leu)	MTRFR (V82L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214191	NM_152269.5(MTRFR):c.244G>A (p.Val82Met)	MTRFR (V82M)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 3340697	NM_152269.5(MTRFR):c.259del (p.Ile87fs)	MTRFR (I87fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 1292964	NM_152269.5(MTRFR):c.282+175A>G	MTRFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250494	NM_152269.5(MTRFR):c.283-160A>G	MTRFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 421457	NM_152269.5(MTRFR):c.283-19_283-16dup	MTRFR	Duplication (intron variant)	Spastic paraplegia +2 more	GLikely benign
Select item 418100	NM_152269.5(MTRFR):c.283T>C (p.Cys95Arg)	MTRFR (C95R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1681659	NM_152269.5(MTRFR):c.325C>T (p.Arg109Trp)	MTRFR (R109W)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
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 517075	NM_152269.5(MTRFR):c.468A>G (p.Lys156=)	MTRFR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 385611	NM_152269.5(MTRFR):c.473T>C (p.Leu158Pro)	MTRFR (L158P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386425	NM_152269.5(MTRFR):c.*6G>A	MTRFR	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 307499	NM_152269.5(MTRFR):c.*128C>A	MTRFR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 307502	NM_152269.5(MTRFR):c.*198T>C	MTRFR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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Items: 34