C0432235[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432805	NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)	IFT122 (G32R)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2432804	NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)	IFT122 (K66T)	Single nucleotide variant (missense variant +2 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 2054943	NM_052989.3(IFT122):c.535A>G (p.Ile179Val)	IFT122 (I127V +3 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 1323103	NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs)	IFT122 (S1033fs +6 more)	Deletion (frameshift variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 2046413	NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)	IFT122 (V1053M +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 2037381	NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)	IFT122 (M1095V +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance

ClinVar