ClinVar for MedGen (Select 1710207) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065703	NM_015533.4(TKFC):c.129_130del (p.Asp43fs)	TKFC (D43fs)	Deletion (frameshift variant +1 more)	Triokinase and FMN cyclase deficiency syndrome	GUncertain significance
Select item 1255453	NM_015533.4(TKFC):c.1311C>T (p.Val437=)	TKFC	Single nucleotide variant (synonymous variant)	Triokinase and FMN cyclase deficiency syndrome	GBenign
Select item 1255452	NM_015533.4(TKFC):c.775+39A>C	TKFC	Single nucleotide variant (intron variant)	Triokinase and FMN cyclase deficiency syndrome	GBenign
Select item 1255451	NM_015533.4(TKFC):c.553G>A (p.Ala185Thr)	TKFC (A115T +1 more)	Single nucleotide variant (missense variant)	Triokinase and FMN cyclase deficiency syndrome	GBenign
Select item 1255450	NM_015533.4(TKFC):c.471G>C (p.Thr157=)	TKFC	Single nucleotide variant (synonymous variant)	Triokinase and FMN cyclase deficiency syndrome	GBenign
Select item 1255449	NM_015533.4(TKFC):c.194-13C>T	TKFC	Single nucleotide variant (intron variant)	Triokinase and FMN cyclase deficiency syndrome	GBenign
Select item 816700	NM_015533.4(TKFC):c.1333G>A (p.Gly445Ser)	TKFC (G445S +1 more)	Single nucleotide variant (missense variant)	TKFC deficiency +1 more	GLikely pathogenic
Select item 816699	NM_015533.4(TKFC):c.1628G>T (p.Arg543Ile)	TKFC (R543I)	Single nucleotide variant (missense variant +2 more)	Inborn errors of metabolism +1 more	GLikely pathogenic

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