"Molecular Genetics Department, Kulakov National Medical Research Cent - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062239	NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)	CC2D2A (Y223fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 9	GLikely pathogenic
Select item 1285429	NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)	CC2D2A (A1547T +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9	GLikely pathogenic