C2749019[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982095	NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg)	CC2D2A (W1470R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 1031340	NM_003611.3(OFD1):c.3G>A (p.Met1Ile)	LOC126863212, OFD1 (M1I)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 41117	NM_003611.3(OFD1):c.400_403del (p.Glu134fs)	OFD1 (E134fs)	Deletion (frameshift variant +1 more)	Orofaciodigital syndrome I +5 more	GPathogenic
Select item 689774	NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del)	OFD1	Deletion (inframe_deletion)	Simpson-Golabi-Behmel syndrome type 2 +2 more	GUncertain significance
Select item 1031341	NM_003611.3(OFD1):c.935+4A>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +5 more	GUncertain significance
Select item 488753	NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)	OFD1 (Q331* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 10 +1 more	GConflicting classifications of pathogenicity

ClinVar