"GeneDx"[submitter] AND "LOC126806810"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1218044	NM_052989.3(IFT122):c.2047-173G>A	IFT122, LOC126806810	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262270	NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln)	LOC126806810, IFT122 (R738Q +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2506715	NM_052989.3(IFT122):c.2123A>G (p.Glu708Gly)	IFT122, LOC126806810 (E499G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 343250	NM_052989.3(IFT122):c.2154C>T (p.His718=)	IFT122, LOC126806810	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1 +2 more	GBenign/Likely benign
Select item 1285685	NM_052989.3(IFT122):c.2208+61G>A	IFT122, LOC126806810	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249747	NM_052989.3(IFT122):c.2208+130G>C	IFT122, LOC126806810	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219982	NM_052989.3(IFT122):c.2208+163C>T	IFT122, LOC126806810	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243609	NM_052989.3(IFT122):c.2208+207G>A	IFT122, LOC126806810	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar