"GeneDx"[submitter] AND "CNGA3"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 257964	NM_001298.3(CNGA3):c.72T>C (p.Asp24=)	CNGA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 257961	NM_001298.3(CNGA3):c.102-16A>G	CNGA3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1708674	NM_001298.3(CNGA3):c.162_163insT (p.Arg55Ter)	CNGA3 (R55*)	Insertion (nonsense)	not provided	GPathogenic
Select item 257962	NM_001298.3(CNGA3):c.198C>T (p.Thr66=)	CNGA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1254794	NM_001298.3(CNGA3):c.215+46T>A	CNGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 257963	NM_001298.3(CNGA3):c.215+46T>G	CNGA3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 236461	NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter)	CNGA3 (W83*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1261297	NM_001298.3(CNGA3):c.396-84G>T	CNGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 285271	NM_001298.3(CNGA3):c.458C>T (p.Thr153Met)	CNGA3 (T153M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 488683	NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter)	CNGA3 (W171* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 377069	NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys)	CNGA3 (E198K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 498768	NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp)	CNGA3 (R223W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 865874	NM_001298.3(CNGA3):c.668G>A (p.Arg223Gln)	CNGA3 (R205Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1302772	NM_001298.3(CNGA3):c.674-48A>C	CNGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 598143	NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)	CNGA3 (P271A +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2 +2 more	GConflicting classifications of pathogenicity
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 9474	NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp)	CNGA3 (R283W +1 more)	Single nucleotide variant (missense variant)	not provided +2 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)	not provided +2 more	GPathogenic
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 284032	NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro)	CNGA3 (A323P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 291008	NM_001298.3(CNGA3):c.1034A>G (p.His345Arg)	CNGA3 (H345R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2574313	NM_001298.3(CNGA3):c.1106C>A (p.Thr369Asn)	CNGA3 (T351N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1062910	NM_001298.3(CNGA3):c.1128G>C (p.Glu376Asp)	CNGA3 (E358D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 9479	NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp)	CNGA3 (R392W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 497256	NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)	CNGA3 (R427C +1 more)	Single nucleotide variant (missense variant)	Abnormality of the eye +4 more	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 451881	NM_001298.3(CNGA3):c.1501A>C (p.Thr501Pro)	CNGA3 (T501P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284151	NM_001298.3(CNGA3):c.1569C>T (p.Asn523=)	CNGA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 1459175	NM_001298.3(CNGA3):c.1609del (p.Gln537fs)	CNGA3 (Q519fs +1 more)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
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 337663	NM_001298.3(CNGA3):c.1626C>T (p.Ser542=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GBenign
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 9476	NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)	CNGA3 (G557R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	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)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 867082	NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met)	CNGA3 (T565M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 451880	NM_001298.3(CNGA3):c.1741_1742del (p.Lys581fs)	CNGA3 (K581fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 867037	NM_001298.3(CNGA3):c.1981C>A (p.Arg661Ser)	CNGA3 (R661S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 43