"Clinical Genetics, Academic Medical Center"[submitter] AND "CNGA3"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 503559	NM_001298.3(CNGA3):c.-37-1G>C	CNGA3	Single nucleotide variant (splice acceptor variant)	Achromatopsia +1 more	GConflicting classifications of pathogenicity
Select item 896736	NM_001298.3(CNGA3):c.144G>A (p.Pro48=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 257962	NM_001298.3(CNGA3):c.198C>T (p.Thr66=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +2 more	GConflicting classifications of pathogenicity
Select item 1071996	NM_001298.3(CNGA3):c.542A>G (p.Tyr181Cys)	CNGA3 (Y163C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 9481	NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)	CNGA3 (R277C +1 more)	Single nucleotide variant (missense variant)	Achromatopsia +5 more	GPathogenic/Likely pathogenic
Select item 1150710	NM_001298.3(CNGA3):c.1101T>C (p.Gly367=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1284417	NM_001298.3(CNGA3):c.1520A>T (p.Asp507Val)	CNGA3 (D489V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 236463	NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile)	CNGA3 (M519I +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 265467	NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)	CNGA3 (R563H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 711262	NM_001298.3(CNGA3):c.1863G>A (p.Ala621=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity