C1849437[trait identifier] AND "Diagnostic Laboratory, Department of G - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 516182	NM_014714.4(IFT140):c.3270+19T>C	IFT140	Single nucleotide variant (intron variant)	Retinitis pigmentosa 80 +2 more	GBenign
Select item 129261	NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val)	IFT140 (A1070V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 129260	NM_014714.4(IFT140):c.2919C>T (p.Ala973=)	LOC126862260, IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +3 more	GBenign
Select item 129258	NM_014714.4(IFT140):c.1968T>C (p.Ser656=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +3 more	GBenign
Select item 318209	NM_014714.4(IFT140):c.635-12G>C	LOC105371046, IFT140	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 318223	NM_014714.4(IFT140):c.-17G>C	IFT140, LOC105371046	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa 80 +2 more	GBenign

ClinVar