"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299916	NM_001379270.1(CNGA1):c.1939A>G (p.Met647Val)	CNGA1, LOC101927157 (M647V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 348839	NM_001379270.1(CNGA1):c.1407A>G (p.Thr469=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 16932	NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	CNGA1, LOC101927157 (S389F)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 166885	NM_001379270.1(CNGA1):c.360C>T (p.Asn120=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1299944	NM_001379270.1(CNGA1):c.27G>A (p.Gln9=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1284336	NM_001379270.1(CNGA1):c.-15+10332G>A	CNGA1, LOC101927157	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

ClinVar