"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CFAP418-AS1"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1681144	NM_177965.4(CFAP418):c.155+20T>G	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1045329	NM_177965.4(CFAP418):c.155+12G>A	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (intron variant)	Bardet-biedl syndrome 21 +3 more	GConflicting classifications of pathogenicity
Select item 953986	NM_177965.4(CFAP418):c.134C>G (p.Ala45Gly)	CFAP418-AS1, CFAP418 +1 more (A45G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 1179152	NM_177965.4(CFAP418):c.124del (p.Arg42fs)	LOC130000784, CFAP418 +1 more (R42fs)	Deletion (frameshift variant)	Cone-rod dystrophy 16 +2 more	GPathogenic
Select item 1681153	NM_177965.4(CFAP418):c.82G>A (p.Glu28Lys)	CFAP418, CFAP418-AS1 +1 more (E28K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1681154	NM_177965.4(CFAP418):c.65T>C (p.Leu22Pro)	CFAP418, CFAP418-AS1 +1 more (L22P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1047519	NM_177965.4(CFAP418):c.43A>G (p.Lys15Glu)	CFAP418, CFAP418-AS1 +1 more (K15E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance

ClinVar