"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379446	NM_015662.3(IFT172):c.4540-6C>T	IFT172	Single nucleotide variant (intron variant)	Retinitis pigmentosa 71 +2 more	GBenign/Likely benign
Select item 516971	NM_015662.3(IFT172):c.4272G>A (p.Gln1424=)	IFT172	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 20 +4 more	GBenign/Likely benign
Select item 385854	NM_015662.3(IFT172):c.3530+7T>C	IFT172, LOC126806173	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 252701	NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu)	IFT172 (R1134L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GBenign/Likely benign
Select item 476042	NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser)	IFT172 (T562S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GBenign/Likely benign
Select item 680874	NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile)	IFT172 (N478I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign

ClinVar