ClinVar for MedGen (Select 340413) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366414	NC_000008.10:g.(87656915_87660028)_(87666291_87679152)del	CNGB3	Deletion	Achromatopsia 3	GPathogenic
Select item 3366382	NC_000008.10:g.(87656102_87656849)_(87660116_87666239)del	CNGB3	Deletion	Achromatopsia 3	GPathogenic
Select item 2691557	NM_019098.5(CNGB3):c.1155G>A (p.Trp385Ter)	CNGB3 (W385*)	Single nucleotide variant (nonsense)	Achromatopsia 3	GPathogenic
Select item 2439159	NM_019098.5(CNGB3):c.1131T>G (p.Tyr377Ter)	CNGB3 (Y377*)	Single nucleotide variant (nonsense)	Achromatopsia 3	GLikely pathogenic
Select item 1805587	NM_019098.5(CNGB3):c.1883T>C (p.Leu628Pro)	CNGB3 (L628P)	Single nucleotide variant (missense variant)	Achromatopsia 3	GLikely pathogenic
Select item 1726894	NM_019098.5(CNGB3):c.874A>T (p.Lys292Ter)	CNGB3 (K292*)	Single nucleotide variant (nonsense)	Achromatopsia 3	GLikely pathogenic
Select item 1726850	NM_019098.5(CNGB3):c.59_61delinsCTGTCTCTTGTTCTCAT (p.Asn20fs)	CNGB3 (N20fs)	Indel (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1726740	NM_019098.5(CNGB3):c.969del (p.Phe323fs)	CNGB3 (F323fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1726552	NM_019098.5(CNGB3):c.269del (p.Asn90fs)	CNGB3 (N90fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1726477	NM_019098.5(CNGB3):c.1107T>A (p.Cys369Ter)	CNGB3 (C369*)	Single nucleotide variant (nonsense)	Achromatopsia 3	GLikely pathogenic
Select item 1726177	NM_019098.5(CNGB3):c.1619T>A (p.Leu540Ter)	CNGB3 (L540*)	Single nucleotide variant (nonsense)	Achromatopsia 3	GLikely pathogenic
Select item 1725281	NM_019098.5(CNGB3):c.1496_1497del (p.Leu499fs)	CNGB3 (L499fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1725024	NM_019098.5(CNGB3):c.1052del (p.Tyr351fs)	CNGB3 (Y351fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1724545	NM_019098.5(CNGB3):c.1849_1850del (p.Leu617fs)	CNGB3 (L617fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1724456	NM_019098.5(CNGB3):c.1405del (p.Tyr469fs)	CNGB3 (Y469fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1724302	NM_019098.5(CNGB3):c.1019_1020del (p.His340fs)	CNGB3 (H340fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1724275	NM_019098.5(CNGB3):c.1025_1026del (p.Glu342fs)	CNGB3 (E342fs)	Microsatellite (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1724210	NM_019098.5(CNGB3):c.893_897del (p.Thr298fs)	CNGB3 (T298fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1526136	NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser)	CNGB3 (L405S)	Single nucleotide variant (missense variant)	Achromatopsia 3	GConflicting classifications of pathogenicity
Select item 1401763	NM_019098.5(CNGB3):c.2047A>C (p.Thr683Pro)	CNGB3 (T683P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1354843	NM_019098.5(CNGB3):c.2105del (p.Lys702fs)	CNGB3 (K702fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1322099	NM_019098.5(CNGB3):c.442_446delinsGAAAAT (p.Lys148fs)	CNGB3 (K148fs)	Indel (frameshift variant)	Achromatopsia 3	GPathogenic
Select item 1185155	NM_019098.5(CNGB3):c.852+55C>T	CNGB3	Single nucleotide variant (intron variant)	Achromatopsia 3 +1 more	GBenign
Select item 1185154	NM_019098.5(CNGB3):c.1481-145A>C	CNGB3	Single nucleotide variant (intron variant)	Achromatopsia 3	GBenign
Select item 1172707	NM_019098.5(CNGB3):c.701G>A (p.Cys234Tyr)	CNGB3 (C234Y)	Single nucleotide variant (missense variant)	Achromatopsia 3	GUncertain significance
Select item 1071430	NM_019098.5(CNGB3):c.886_890del (p.Thr296fs)	CNGB3 (T296fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1048157	NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs)	CNGB3 (E390fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 997677	NM_019098.5(CNGB3):c.852+4010_903+1699dup	CNGB3	Duplication (splice acceptor variant +1 more)	Achromatopsia 3	GPathogenic
Select item 991602	NM_019098.5(CNGB3):c.680T>C (p.Leu227Pro)	CNGB3 (L227P)	Single nucleotide variant (missense variant)	Achromatopsia 3 +2 more	GUncertain significance
Select item 988797	NM_019098.5(CNGB3):c.1178+5G>T	CNGB3	Single nucleotide variant (intron variant)	Achromatopsia 3	GPathogenic
Select item 988796	NM_019098.5(CNGB3):c.445_446insT (p.Lys149fs)	CNGB3 (K149fs)	Insertion (frameshift variant)	Achromatopsia 3	GPathogenic
Select item 971893	NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu)	CNGB3 (K749E)	Single nucleotide variant (missense variant)	Achromatopsia 3 +2 more	GUncertain significance
Select item 969924	NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr)	CNGB3 (H566Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 911900	NM_019098.5(CNGB3):c.-1G>A	CNGB3	Single nucleotide variant (5 prime UTR variant)	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
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 911660	NM_019098.5(CNGB3):c.*108C>T	CNGB3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
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 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 910616	NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn)	CNGB3 (T226N)	Single nucleotide variant (missense variant)	Achromatopsia 3 +2 more	GUncertain significance
Select item 910494	NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln)	CNGB3 (R696Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 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 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 910389	NM_019098.5(CNGB3):c.*800C>G	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
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 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 910324	NM_019098.4(CNGB3):c.*1654C>T	CNGB3	Single nucleotide variant	Achromatopsia 3 +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 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 909630	NM_019098.5(CNGB3):c.1515G>A (p.Thr505=)	CNGB3	Single nucleotide variant (synonymous variant)	Achromatopsia 3 +2 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 909502	NM_019098.5(CNGB3):c.*435G>A	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +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 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 909363	NM_019098.4(CNGB3):c.*1705A>C	CNGB3	Single nucleotide variant	Severe early-childhood-onset retinal dystrophy +1 more	GUncertain significance
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 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 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 908771	NM_019098.5(CNGB3):c.1773A>G (p.Gly591=)	CNGB3	Single nucleotide variant (synonymous variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 908712	NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr)	CNGB3 (A807T)	Single nucleotide variant (missense variant)	Achromatopsia 3 +2 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 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 908649	NM_019098.5(CNGB3):c.*499G>C	CNGB3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 3 +1 more	GUncertain significance
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 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 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 853162	NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn)	CNGB3 (K56N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 847858	NM_019098.5(CNGB3):c.595del (p.Glu199fs)	CNGB3 (E199fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 812287	NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter)	CNGB3 (R403*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 810781	NM_019098.5(CNGB3):c.1781+1G>T	CNGB3	Single nucleotide variant (splice donor variant)	Achromatopsia 3 +1 more	GPathogenic
Select item 802416	NM_019098.5(CNGB3):c.852+1G>T	CNGB3	Single nucleotide variant (splice donor variant)	Achromatopsia 3 +1 more	GPathogenic/Likely pathogenic
Select item 790610	NM_019098.5(CNGB3):c.1626C>T (p.Ser542=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 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 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 756110	NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)	CNGB3 (Q720R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 749496	NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 666061	NM_019098.5(CNGB3):c.2085del (p.Lys695fs)	CNGB3 (K695fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 647080	NM_019098.5(CNGB3):c.1929-1G>A	CNGB3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 635823	NM_019098.5(CNGB3):c.1663-2137C>T	CNGB3	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 635822	NM_019098.5(CNGB3):c.1663-1205G>A	CNGB3	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 624336	NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])	CNGB3	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 624335	NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)	CNGB3 (R772del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 592343	NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)	CNGB3 (D633G)	Single nucleotide variant (missense variant)	Achromatopsia 3 +2 more	GConflicting classifications of pathogenicity
Select item 557186	NM_019098.5(CNGB3):c.1774dup (p.Glu592fs)	CNGB3 (E592fs)	Duplication (frameshift variant)	Achromatopsia 3 +1 more	GPathogenic/Likely pathogenic
Select item 557142	NM_019098.5(CNGB3):c.2008G>T (p.Glu670Ter)	CNGB3 (E670*)	Single nucleotide variant (nonsense)	Achromatopsia 3 +1 more	GPathogenic/Likely pathogenic
Select item 556978	NM_019098.5(CNGB3):c.1578+2C>G	CNGB3	Single nucleotide variant (splice donor variant)	Achromatopsia 3	GLikely pathogenic
Select item 556879	NM_019098.5(CNGB3):c.445_447delinsT (p.Lys149fs)	CNGB3 (K149fs)	Indel (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 555632	NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs)	CNGB3 (S769fs)	Duplication (frameshift variant)	Achromatopsia 3 +1 more	GConflicting classifications of pathogenicity
Select item 554993	NM_019098.5(CNGB3):c.2101C>T (p.Gln701Ter)	CNGB3 (Q701*)	Single nucleotide variant (nonsense)	Achromatopsia 3	GUncertain significance
Select item 554970	NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg)	CNGB3 (G795R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 554831	NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys)	CNGB3 (G558C)	Single nucleotide variant (missense variant)	Achromatopsia 3 +1 more	GUncertain significance
Select item 553139	NM_019098.5(CNGB3):c.1481-2A>C	CNGB3	Single nucleotide variant (splice acceptor variant)	Achromatopsia 3	GLikely pathogenic
Select item 503558	NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe)	CNGB3 (L595F)	Single nucleotide variant (missense variant)	Achromatopsia +1 more	GUncertain significance
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 438042	NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)	CNGB3 (R604*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 430673	NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770]	CNGB3	Insertion	Achromatopsia 3	GPathogenic
Select item 430672	NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]	CNGB3	Insertion	Achromatopsia 3	GPathogenic
Select item 427721	NM_019098.5(CNGB3):c.1782-3723_2103+739del	CNGB3	Deletion (splice acceptor variant +1 more)	Achromatopsia 3	GPathogenic

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