"Ambry Genetics"[submitter] AND "LOC126806174"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 476044	NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)	IFT172, LOC126806174 (S924A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2298413	NM_015662.3(IFT172):c.2744A>T (p.Tyr915Phe)	IFT172, LOC126806174 (Y915F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274503	NM_015662.3(IFT172):c.2693A>G (p.Lys898Arg)	IFT172, LOC126806174 (K876R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1005648	NM_015662.3(IFT172):c.2680C>T (p.Arg894Cys)	LOC126806174, IFT172 (R894C)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 1403681	NM_015662.3(IFT172):c.2653A>G (p.Lys885Glu)	IFT172, LOC126806174 (K885E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 521057	NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)	IFT172, LOC126806174 (Q866R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +5 more	GConflicting classifications of pathogenicity
Select item 512619	NM_015662.3(IFT172):c.2551G>T (p.Val851Leu)	IFT172, LOC126806174 (V851L)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign

ClinVar