"Genetic Services Laboratory, University of Chicago"[submitter] AND "C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 476163	NM_001375405.1(CEP120):c.2182A>G (p.Ser728Gly)	CEP120 (S728G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1168417	NM_001375405.1(CEP120):c.1431-9A>T	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly +2 more	GBenign
Select item 2443093	NM_001375405.1(CEP120):c.1431-18_1431-10del	CEP120	Deletion (intron variant)	not specified	GLikely benign
Select item 434719	NM_001375405.1(CEP120):c.1202A>C (p.Glu401Ala)	CEP120 (E375A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 707477	NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg)	CEP120 (K345R +2 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 31 +5 more	GBenign/Likely benign
Select item 707490	NM_001375405.1(CEP120):c.779G>A (p.Arg260His)	CEP120 (R260H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1336211	NM_001375405.1(CEP120):c.316A>C (p.Lys106Gln)	CEP120 (K106Q +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly +1 more	GUncertain significance

ClinVar