"Genome-Nilou Lab"[submitter] AND "IFT140"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 317981	NM_014714.4(IFT140):c.*59T>C	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome +2 more	GBenign
Select item 1185534	NM_014714.4(IFT140):c.4041-44T>C	IFT140	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185535	NM_014714.4(IFT140):c.3454-48A>G	IFT140	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 516182	NM_014714.4(IFT140):c.3270+19T>C	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +3 more	GBenign
Select item 129260	NM_014714.4(IFT140):c.2919C>T (p.Ala973=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 1185536	NM_014714.4(IFT140):c.2768+184A>G	LOC126862260, IFT140	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 129259	NM_014714.4(IFT140):c.2253T>C (p.Pro751=)	IFT140	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 80 +4 more	GBenign
Select item 129258	NM_014714.4(IFT140):c.1968T>C (p.Ser656=)	IFT140	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 80 +4 more	GBenign
Select item 1185425	NM_014714.4(IFT140):c.148-22A>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185426	NM_014714.4(IFT140):c.147+109G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 318223	NM_014714.4(IFT140):c.-17G>C	IFT140, LOC105371046	Single nucleotide variant (5 prime UTR variant)	Saldino-Mainzer syndrome +3 more	GBenign
Select item 1185432	NM_014714.4(IFT140):c.-31-52T>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided +2 more	GBenign