"Illumina Laboratory Services, Illumina"[submitter] AND "CFAP418-AS1"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 788871	NM_177965.4(CFAP418):c.155+8G>A	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 290835	NM_177965.4(CFAP418):c.126G>C (p.Arg42=)	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 364002	NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala)	CFAP418, CFAP418-AS1 +1 more (P19A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign/Likely benign
Select item 631535	NM_177965.4(CFAP418):c.16_19del (p.Asp6fs)	LOC130000784, CFAP418 +1 more (D6fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 912480	NM_177965.4(CFAP418):c.15G>A (p.Leu5=)	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 364003	NM_177965.4(CFAP418):c.-5T>C	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 16 +1 more	GUncertain significance
Select item 364004	NM_177965.3(CFAP418):c.-22G>A	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant	Cone-Rod Dystrophy, Recessive +1 more	GUncertain significance

ClinVar