"Genome-Nilou Lab"[submitter] AND "IFT122"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262273	NM_052989.3(IFT122):c.740+15G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +3 more	GBenign
Select item 262267	NM_052989.3(IFT122):c.1147+19C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +2 more	GBenign
Select item 262268	NM_052989.3(IFT122):c.1654-12C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +3 more	GBenign
Select item 194901	NM_052989.3(IFT122):c.1993-7G>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia +3 more	GBenign
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

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