C3280897[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30843	NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys)	CEP41 (R360C +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 30841	NM_018718.3(CEP41):c.536G>A (p.Arg179His)	CEP41 (R179H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 15	GUncertain significance
Select item 30840	NM_018718.3(CEP41):c.423-2A>C	CEP41	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 15	GPathogenic
Select item 30842	NM_018718.3(CEP41):c.107T>C (p.Met36Thr)	CEP41 (M36T)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 15 +1 more	GUncertain significance
Select item 30839	NM_018718.3(CEP41):c.97+3_97+5del	CEP41	Deletion (intron variant)	Joubert syndrome 15	GPathogenic
Select item 30844	NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)	CEP41 (S28*)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 15	GPathogenic
Select item 30838	NM_018718.3(CEP41):c.33+2T>G	CEP41	Single nucleotide variant (splice donor variant)	Joubert syndrome 15	GPathogenic

ClinVar