"Eurofins Ntd Llc (ga)"[submitter] AND "LOC105371046"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193897	NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)	IFT140, LOC105371046 (I446V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 282992	NM_014714.4(IFT140):c.1272G>A (p.Pro424=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 282935	NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)	IFT140, LOC105371046 (R253Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 282802	NM_014714.4(IFT140):c.497T>C (p.Leu166Pro)	IFT140, LOC105371046 (L166P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 465318	NM_014714.4(IFT140):c.322G>A (p.Val108Met)	IFT140, LOC105371046 (V108M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GBenign
Select item 598148	NM_014714.4(IFT140):c.157G>A (p.Val53Met)	IFT140, LOC105371046 (V53M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance

ClinVar