ClinVar for MedGen (Select 6323) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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