"Ambry Genetics"[submitter] AND "CNGA3"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 895317	NM_001298.3(CNGA3):c.80G>A (p.Arg27His)	CNGA3 (R27H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2049083	NM_001298.3(CNGA3):c.82G>A (p.Ala28Thr)	CNGA3 (A28T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 425210	NM_001298.3(CNGA3):c.128C>T (p.Ser43Leu)	CNGA3 (S43L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2440156	NM_001298.3(CNGA3):c.181G>A (p.Gly61Arg)	CNGA3 (G61R)	Single nucleotide variant (missense variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 3146446	NM_001298.3(CNGA3):c.211G>C (p.Ala71Pro)	CNGA3 (A71P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 960874	NM_001298.3(CNGA3):c.242G>A (p.Arg81His)	CNGA3 (R81H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1008438	NM_001298.3(CNGA3):c.307C>T (p.Arg103Cys)	CNGA3 (R103C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2332533	NM_001298.3(CNGA3):c.332C>G (p.Ser111Cys)	CNGA3 (S111C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285107	NM_001298.3(CNGA3):c.344G>C (p.Ser115Thr)	CNGA3 (S115T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712356	NM_001298.3(CNGA3):c.353A>G (p.Gln118Arg)	CNGA3 (Q118R)	Single nucleotide variant (missense variant)	CNGA3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 897209	NM_001298.3(CNGA3):c.440C>G (p.Thr147Arg)	CNGA3 (T147R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 374721	NM_001298.3(CNGA3):c.473C>T (p.Ala158Val)	CNGA3 (A158V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2331651	NM_001298.3(CNGA3):c.488C>A (p.Pro163Gln)	CNGA3 (P145Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 812278	NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly)	CNGA3 (R223G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3146445	NM_001298.3(CNGA3):c.1147G>A (p.Val383Ile)	CNGA3 (V365I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2601586	NM_001298.3(CNGA3):c.1204A>C (p.Met402Leu)	CNGA3 (M402L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481171	NM_001298.3(CNGA3):c.1222G>A (p.Ala408Thr)	CNGA3 (A390T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1470634	NM_001298.3(CNGA3):c.1250T>C (p.Ile417Thr)	CNGA3 (I399T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1912522	NM_001298.3(CNGA3):c.1402A>C (p.Ile468Leu)	CNGA3 (I468L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1518108	NM_001298.3(CNGA3):c.1462G>T (p.Ala488Ser)	CNGA3 (A488S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 933288	NM_001298.3(CNGA3):c.1483G>C (p.Val495Leu)	CNGA3 (V477L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2243489	NM_001298.3(CNGA3):c.1510A>G (p.Ser504Gly)	CNGA3 (S486G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2165007	NM_001298.3(CNGA3):c.1616T>C (p.Val539Ala)	CNGA3 (V521A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 9476	NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)	CNGA3 (G557R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2474706	NM_001298.3(CNGA3):c.1753A>C (p.Met585Leu)	CNGA3 (M585L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1004511	NM_001298.3(CNGA3):c.1807C>T (p.Arg603Trp)	CNGA3 (R585W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1045116	NM_001298.3(CNGA3):c.1837G>A (p.Asp613Asn)	CNGA3 (D613N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 957937	NM_001298.3(CNGA3):c.1861G>A (p.Ala621Thr)	CNGA3 (A603T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2526346	NM_001298.3(CNGA3):c.1916C>A (p.Thr639Asn)	CNGA3 (T639N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 624145	NM_001298.3(CNGA3):c.1936C>T (p.Arg646Cys)	CNGA3 (R646C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1499012	NM_001298.3(CNGA3):c.1957G>A (p.Ala653Thr)	CNGA3 (A635T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 840678	NM_001298.3(CNGA3):c.1976A>C (p.Lys659Thr)	CNGA3 (K641T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 998855	NM_001298.3(CNGA3):c.2051G>A (p.Gly684Glu)	CNGA3 (G666E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33