"GeneDx"[submitter] AND "CNGB3"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 363866	NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)	CNGB3 (A807G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 523799	NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter)	CNGB3 (K804*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 863888	NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly)	CNGB3 (E796G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 166899	NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly)	CNGB3 (E755G)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 166903	NM_019098.5(CNGB3):c.2214A>G (p.Glu738=)	CNGB3	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy +3 more	GBenign
Select item 1290195	NM_019098.5(CNGB3):c.2103+67C>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261085	NM_019098.5(CNGB3):c.2103+23C>G	CNGB3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 487439	NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter)	CNGB3 (R696*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1208902	NM_019098.5(CNGB3):c.1782-95A>C	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261084	NM_019098.5(CNGB3):c.1781+10A>T	CNGB3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 635822	NM_019098.5(CNGB3):c.1663-1205G>A	CNGB3	Single nucleotide variant (intron variant)	Achromatopsia +1 more	GPathogenic
Select item 1225900	NM_019098.5(CNGB3):c.1662+67A>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 424095	NM_019098.5(CNGB3):c.1662+1G>A	CNGB3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 427704	NM_019098.5(CNGB3):c.1578+1G>T	CNGB3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 189031	NM_019098.5(CNGB3):c.1578+1G>A	CNGB3	Single nucleotide variant (splice donor variant)	Achromatopsia 3 +2 more	GPathogenic/Likely pathogenic
Select item 363871	NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)	CNGB3 (I512V)	Single nucleotide variant (missense variant)	Achromatopsia 3 +2 more	GConflicting classifications of pathogenicity
Select item 421450	NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met)	CNGB3 (L498M)	Single nucleotide variant (missense variant)	Achromatopsia 3 +2 more	GConflicting classifications of pathogenicity
Select item 450060	NM_019098.5(CNGB3):c.1439G>A (p.Arg480Gln)	CNGB3 (R480Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 261082	NM_019098.5(CNGB3):c.1356G>A (p.Gln452=)	CNGB3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1280559	NM_019098.5(CNGB3):c.1321-97C>A	CNGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293454	NM_019098.5(CNGB3):c.1320+56G>A	CNGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817443	NM_019098.5(CNGB3):c.1245_1246del (p.Gln415fs)	CNGB3 (Q415fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3364503	NM_019098.5(CNGB3):c.1244A>C (p.Gln415Pro)	CNGB3 (Q415P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 143154	NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)	CNGB3 (R403Q)	Single nucleotide variant (missense variant)	Achromatopsia 3 +5 more	GConflicting classifications of pathogenicity
Select item 261081	NM_019098.5(CNGB3):c.1179-38T>C	CNGB3	Single nucleotide variant (intron variant)	Achromatopsia 3 +2 more	GBenign
Select item 1264576	NM_019098.5(CNGB3):c.1179-78A>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5225	NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	CNGB3	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 189190	NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)	CNGB3 (W373*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 372954	NM_019098.5(CNGB3):c.1098_1101dup (p.Ala368Ter)	CNGB3 (A368*)	Duplication (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 3367562	NM_019098.5(CNGB3):c.981G>C (p.Arg327Ser)	CNGB3 (R327S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261092	NM_019098.5(CNGB3):c.919A>G (p.Ile307Val)	CNGB3 (I307V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 363876	NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs)	CNGB3 (T296fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 95929	NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)	CNGB3 (T298P)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1185155	NM_019098.5(CNGB3):c.852+55C>T	CNGB3	Single nucleotide variant (intron variant)	Achromatopsia 3 +1 more	GBenign
Select item 374027	NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	CNGB3	Deletion (frameshift variant)	Achromatopsia 3 +5 more	GPathogenic
Select item 261090	NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp)	CNGB3 (C234W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 188780	NM_019098.5(CNGB3):c.644-1G>C	CNGB3	Single nucleotide variant (splice acceptor variant)	Achromatopsia 3 +1 more	GPathogenic/Likely pathogenic
Select item 1252533	NM_019098.5(CNGB3):c.643+135A>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261089	NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln)	CNGB3 (R203Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 363882	NM_019098.5(CNGB3):c.494-11dup	CNGB3	Duplication (intron variant)	Stargardt Disease, Recessive +2 more	GBenign/Likely benign
Select item 1222849	NM_019098.5(CNGB3):c.493+96C>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817918	NM_019098.5(CNGB3):c.298del (p.Glu100fs)	CNGB3 (E100fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1247087	NM_019098.5(CNGB3):c.211+100T>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183444	NM_019098.5(CNGB3):c.211+17dup	CNGB3	Duplication (intron variant)	not provided	GBenign
Select item 1267752	NM_019098.5(CNGB3):c.211+33_211+34del	CNGB3	Deletion (intron variant)	not provided	GBenign
Select item 1265940	NM_019098.5(CNGB3):c.211+32_211+34del	CNGB3	Deletion (intron variant)	not provided	GBenign
Select item 1233884	NM_019098.5(CNGB3):c.211+34del	CNGB3	Deletion (intron variant)	not provided	GBenign
Select item 261086	NM_019098.5(CNGB3):c.211+13T>G	CNGB3	Single nucleotide variant (intron variant)	Achromatopsia 3 +3 more	GBenign
Select item 1221881	NM_019098.5(CNGB3):c.130-72G>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196559	NM_019098.5(CNGB3):c.129+50C>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 865957	NM_019098.5(CNGB3):c.129G>C (p.Gln43His)	CNGB3 (Q43H)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 100588	NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser)	CNGB3 (N27S)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GBenign/Likely benign
Select item 363890	NM_019098.4(CNGB3):c.-36T>G	CNGB3	Single nucleotide variant	Achromatopsia 3 +2 more	GBenign
Select item 1257688	NC_000008.11:g.86743727A>T	CNGB3	Single nucleotide variant	not provided	GBenign
Select item 1202678	NC_000008.11:g.86743736A>G	CNGB3	Single nucleotide variant	not provided	GLikely benign

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Items: 57