C2676788[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870401	NM_001378615.1(CC2D2A):c.438+1G>T	CC2D2A	Single nucleotide variant (splice donor variant)	Joubert syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 1353555	NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)	CC2D2A (E621D +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 1805718	NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)	CC2D2A (E855* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 9	GPathogenic
Select item 56303	NM_001080522.2(CC2D2A):c.3289delG	CC2D2A	Deletion (splice acceptor variant)	not provided +6 more	GPathogenic
Select item 1071905	NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs)	CC2D2A (G1370fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 210612	NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)	CC2D2A (D1440fs)	Deletion (frameshift variant)	Meckel-Gruber syndrome +3 more	GPathogenic/Likely pathogenic
Select item 217607	NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)	CC2D2A (D1556V +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +8 more	GConflicting classifications of pathogenicity

ClinVar