ClinVar for MedGen (Select 1794199) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1268236	NM_031478.6(TLCD3B):c.234del (p.Gln79fs)	TLCD3B, C16orf92 (Q165fs +2 more)	Deletion (frameshift variant +1 more)	Cone-rod dystrophy 22	GPathogenic
Select item 1268235	NM_031478.6(TLCD3B):c.166G>A (p.Gly56Ser)	TLCD3B (G56S +2 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 22	GPathogenic