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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 310006	NM_005726.6(TSFM):c.30T>C (p.Phe10=)	TSFM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 155720	NM_005726.6(TSFM):c.57+4A>G	TSFM	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 559171	NM_005726.6(TSFM):c.58-7C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942467	NM_005726.6(TSFM):c.194A>G (p.Lys65Arg)	TSFM (K65R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 806908	NM_005726.6(TSFM):c.330G>T (p.Leu110Phe)	TSFM (L110F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3380113	NM_005726.6(TSFM):c.532A>G (p.Arg178Gly)	TSFM (R178G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 310017	NM_005726.6(TSFM):c.688G>T (p.Val230Leu)	TSFM (V251L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GUncertain significance
Select item 559172	NM_005726.6(TSFM):c.797T>A (p.Leu266His)	TSFM (L287H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GConflicting classifications of pathogenicity

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