C1849792[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 909362	NM_019098.4(CNGB3):c.*1733T>C	CNGB3	Single nucleotide variant	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 909363	NM_019098.4(CNGB3):c.*1705A>C	CNGB3	Single nucleotide variant	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363843	NM_019098.4(CNGB3):c.*1701C>T	CNGB3	Single nucleotide variant	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 910324	NM_019098.4(CNGB3):c.*1654C>T	CNGB3	Single nucleotide variant	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363844	NM_019098.4(CNGB3):c.*1639C>A	CNGB3	Single nucleotide variant	Achromatopsia 3 +1 more	GBenign
Select item 363845	NM_019098.4(CNGB3):c.*1638G>A	CNGB3	Single nucleotide variant	Achromatopsia 3 +1 more	GBenign
Select item 911536	NM_019098.5(CNGB3):c.*1476T>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363846	NM_019098.5(CNGB3):c.*1470G>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363847	NM_019098.5(CNGB3):c.*1459C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 908582	NM_019098.5(CNGB3):c.*1431G>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363848	NM_019098.5(CNGB3):c.*1371G>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363849	NM_019098.5(CNGB3):c.*1368T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363850	NM_019098.5(CNGB3):c.*1303G>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GBenign
Select item 909440	NM_019098.5(CNGB3):c.*1218C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363851	NM_019098.5(CNGB3):c.*1183T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 909441	NM_019098.5(CNGB3):c.*1143T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363852	NM_019098.5(CNGB3):c.*1093C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 910387	NM_019098.5(CNGB3):c.*997A>G	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GBenign/Likely benign
Select item 910388	NM_019098.5(CNGB3):c.*915G>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GBenign
Select item 910389	NM_019098.5(CNGB3):c.*800C>G	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363854	NM_019098.5(CNGB3):c.*798A>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363855	NM_019098.5(CNGB3):c.*778T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GBenign
Select item 911602	NM_019098.5(CNGB3):c.*737T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363856	NM_019098.5(CNGB3):c.*735A>G	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GBenign
Select item 363857	NM_019098.5(CNGB3):c.*731C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 908647	NM_019098.5(CNGB3):c.*649A>G	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363858	NM_019098.5(CNGB3):c.*621G>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GLikely benign
Select item 908648	NM_019098.5(CNGB3):c.*570T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 908649	NM_019098.5(CNGB3):c.*499G>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 909502	NM_019098.5(CNGB3):c.*435G>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363859	NM_019098.5(CNGB3):c.*389A>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GBenign
Select item 363860	NM_019098.5(CNGB3):c.*379T>G	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363861	NM_019098.5(CNGB3):c.*293T>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 910435	NM_019098.5(CNGB3):c.*291T>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 910436	NM_019098.5(CNGB3):c.*272G>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363862	NM_019098.5(CNGB3):c.*206G>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 910437	NM_019098.5(CNGB3):c.*183A>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363863	NM_019098.5(CNGB3):c.*125G>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GConflicting classifications of pathogenicity
Select item 911660	NM_019098.5(CNGB3):c.*108C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 363864	NM_019098.5(CNGB3):c.*84C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363865	NM_019098.5(CNGB3):c.*51C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 908710	NM_019098.5(CNGB3):c.*29G>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 908711	NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr)	CNGB3 (K808T)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GUncertain significance
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 908712	NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr)	CNGB3 (A807T)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GUncertain significance
Select item 166898	NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)	CNGB3 (E805D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 909568	NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe)	CNGB3 (L784F)	Single nucleotide variant (missense variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363867	NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)	CNGB3 (V770F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 166899	NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly)	CNGB3 (E755G)	Single nucleotide variant (missense variant)	Achromatopsia 3 +3 more	GBenign
Select item 363868	NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser)	CNGB3 (P750S)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 166903	NM_019098.5(CNGB3):c.2214A>G (p.Glu738=)	CNGB3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 756110	NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)	CNGB3 (Q720R)	Single nucleotide variant (missense variant)	Achromatopsia 3 +2 more	GConflicting classifications of pathogenicity
Select item 910494	NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln)	CNGB3 (R696Q)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 592343	NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)	CNGB3 (D633G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 283824	NM_019098.5(CNGB3):c.1833C>T (p.His611=)	CNGB3	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 363869	NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 261084	NM_019098.5(CNGB3):c.1781+10A>T	CNGB3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 908771	NM_019098.5(CNGB3):c.1773A>G (p.Gly591=)	CNGB3	Single nucleotide variant (synonymous variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363870	NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val)	CNGB3 (L572V)	Single nucleotide variant (missense variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 790610	NM_019098.5(CNGB3):c.1626C>T (p.Ser542=)	CNGB3	Single nucleotide variant (synonymous variant)	Achromatopsia 3 +2 more	GBenign/Likely benign
Select item 363871	NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)	CNGB3 (I512V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 363872	NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr)	CNGB3 (A511T)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 909630	NM_019098.5(CNGB3):c.1515G>A (p.Thr505=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 291003	NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)	CNGB3 (T504A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 363873	NM_019098.5(CNGB3):c.1498A>G (p.Lys500Glu)	CNGB3 (K500E)	Single nucleotide variant (missense variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 261083	NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr)	CNGB3 (M466T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 749496	NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)	CNGB3	Single nucleotide variant (synonymous variant)	Achromatopsia 3 +2 more	GConflicting classifications of pathogenicity
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 763609	NM_019098.5(CNGB3):c.1347A>T (p.Thr449=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 143154	NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)	CNGB3 (R403Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 788061	NM_019098.5(CNGB3):c.1178+9T>C	CNGB3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 363874	NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys)	CNGB3 (Y387C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 5225	NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	CNGB3	Deletion (frameshift variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 911794	NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg)	CNGB3 (K330R)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	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 363875	NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)	CNGB3 (A305T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288734	NM_019098.5(CNGB3):c.912C>T (p.Val304=)	CNGB3	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy +3 more	GConflicting classifications of pathogenicity
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 363877	NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr)	CNGB3 (I258T)	Single nucleotide variant (missense variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 363878	NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr)	CNGB3 (A247T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 363879	NM_019098.5(CNGB3):c.738C>T (p.Thr246=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 909687	NM_019098.5(CNGB3):c.721G>A (p.Val241Ile)	CNGB3 (V241I)	Single nucleotide variant (missense variant)	Achromatopsia 3 +2 more	GConflicting classifications of pathogenicity
Select item 763416	NM_019098.5(CNGB3):c.720C>T (p.Leu240=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 910616	NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn)	CNGB3 (T226N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 283819	NM_019098.5(CNGB3):c.670C>T (p.Leu224Phe)	CNGB3 (L224F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 363880	NM_019098.5(CNGB3):c.624C>T (p.Asn208=)	CNGB3	Single nucleotide variant (synonymous variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 261089	NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln)	CNGB3 (R203Q)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GBenign
Select item 363881	NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys)	CNGB3 (E199K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 363883	NM_019098.5(CNGB3):c.494-11T>C	CNGB3	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +2 more	GBenign/Likely benign
Select item 908889	NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu)	CNGB3 (P158L)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 427671	NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)	CNGB3 (S156F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908890	NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr)	CNGB3 (D154Y)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 909751	NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu)	CNGB3 (D129E)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
Select item 261088	NM_019098.5(CNGB3):c.354G>T (p.Pro118=)	CNGB3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 363884	NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala)	CNGB3 (P111A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 731045	NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg)	CNGB3 (G107R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 363886	NM_019098.5(CNGB3):c.212-3T>C	CNGB3	Single nucleotide variant (intron variant)	Achromatopsia 3 +2 more	GBenign/Likely benign
Select item 261086	NM_019098.5(CNGB3):c.211+13T>G	CNGB3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign

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