"Revvity Omics, Revvity"[submitter] AND "IFT140"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432806	NM_014714.4(IFT140):c.3829C>T (p.Arg1277Trp)	IFT140 (R1277W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501241	NM_014714.4(IFT140):c.2617G>A (p.Asp873Asn)	IFT140 (D873N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 31679	NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)	IFT140 (E664K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1323104	NM_014714.4(IFT140):c.1359_1359+3delinsAC	IFT140, LOC105371046	Indel (splice donor variant)	Retinitis pigmentosa 80 +2 more	GPathogenic/Likely pathogenic
Select item 31683	NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)	IFT140, LOC105371046 (G212R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1324571	NM_014714.4(IFT140):c.283C>T (p.Gln95Ter)	IFT140, LOC105371046 (Q95*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

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