"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337652	NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter)	CNGA3 (R23*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 208567	NM_001298.3(CNGA3):c.101+1G>A	CNGA3	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 599216	NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs)	CNGA3 (A51fs)	Duplication (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 812277	NM_001298.3(CNGA3):c.316G>A (p.Glu106Lys)	CNGA3 (E106K)	Single nucleotide variant (missense variant)	maculopathy	GLikely pathogenic
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 337659	NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)	CNGA3 (E228K +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 598143	NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)	CNGA3 (P271A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 9481	NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)	CNGA3 (R277C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 9475	NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln)	CNGA3 (R283Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic
Select item 812279	NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly)	CNGA3 (R284G +1 more)	Single nucleotide variant (missense variant)	Achromatopsia	GLikely pathogenic
Select item 635158	NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del)	CNGA3 (I296del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic
Select item 635157	NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys)	CNGA3 (G329C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 812281	NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser)	CNGA3 (P372S +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 812280	NM_001298.3(CNGA3):c.1114C>G (p.Pro372Ala)	CNGA3 (P372A +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy	GLikely pathogenic
Select item 812282	NM_001298.3(CNGA3):c.1294del (p.Asp432fs)	CNGA3 (D414fs +1 more)	Deletion (frameshift variant)	Achromatopsia	GPathogenic
Select item 9482	NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)	CNGA3 (R436W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic
Select item 9480	NM_001298.3(CNGA3):c.1585G>A (p.Val529Met)	CNGA3 (V529M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 425212	NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile)	CNGA3 (V540I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 9478	NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)	CNGA3 (F547L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 812283	NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)	CNGA3 (G530R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 9476	NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)	CNGA3 (G557R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic

ClinVar

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Items: 21