"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC101927157"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1020322	NM_001379270.1(CNGA1):c.1898T>G (p.Leu633Arg)	CNGA1, LOC101927157 (L633R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 972420	NM_001379270.1(CNGA1):c.1873C>T (p.Arg625Ter)	CNGA1, LOC101927157 (R625*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 236443	NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)	CNGA1, LOC101927157 (R583* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 49 +3 more	GPathogenic/Likely pathogenic
Select item 866887	NM_001379270.1(CNGA1):c.1499A>G (p.Asp500Gly)	CNGA1, LOC101927157 (D500G)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 1060103	NM_001379270.1(CNGA1):c.1096G>A (p.Val366Met)	CNGA1, LOC101927157 (V366M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 16932	NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	CNGA1, LOC101927157 (S389F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GPathogenic/Likely pathogenic
Select item 225315	NM_001379270.1(CNGA1):c.253del (p.Leu85fs)	CNGA1, LOC101927157 (L85fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic

ClinVar