ClinVar for MedGen (Select 57751) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920636	NM_006204.4(PDE6C):c.548C>A (p.Pro183Gln)	PDE6C (P183Q)	Single nucleotide variant (missense variant)	Achromatopsia	GLikely pathogenic
Select item 2577507	NM_001298.3(CNGA3):c.332C>A (p.Ser111Tyr)	CNGA3 (S111Y)	Single nucleotide variant (missense variant)	Achromatopsia	GUncertain significance
Select item 2574561	NM_001298.3(CNGA3):c.1719C>G (p.Tyr573Ter)	CNGA3 (Y555* +1 more)	Single nucleotide variant (nonsense)	Achromatopsia	GLikely pathogenic
Select item 1485991	NM_025136.4(OPA3):c.206A>C (p.Lys69Thr)	OPA3 (K69T)	Single nucleotide variant (missense variant +1 more)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 1301856	NM_001298.3(CNGA3):c.1749del (p.Leu584fs)	CNGA3 (L566fs +1 more)	Deletion (frameshift variant)	Achromatopsia +1 more	GPathogenic
Select item 1213879	NM_006204.4(PDE6C):c.2254G>A (p.Glu752Lys)	PDE6C (E752K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1213877	NM_006204.4(PDE6C):c.480G>T (p.Lys160Asn)	PDE6C (K160N)	Single nucleotide variant (missense variant)	Achromatopsia	GPathogenic
Select item 1213867	NM_000513.2(OPN1MW):c.807_948del (p.Met269fs)	OPN1MW (M269fs)	Deletion (frameshift variant)	Achromatopsia	GPathogenic
Select item 1165851	NM_019098.5(CNGB3):c.494-11del	CNGB3	Deletion (intron variant)	not provided	GBenign
Select item 1139688	NM_019098.5(CNGB3):c.12G>A (p.Ser4=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1109007	NM_019098.5(CNGB3):c.1956C>T (p.Thr652=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1091136	NM_019098.5(CNGB3):c.183G>A (p.Thr61=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080985	NM_019098.5(CNGB3):c.2124A>G (p.Gly708=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1067753	NM_019098.5(CNGB3):c.130-1G>A	CNGB3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1064233	NM_019098.5(CNGB3):c.1376T>C (p.Met459Thr)	CNGB3 (M459T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1057749	NM_019098.5(CNGB3):c.1778T>G (p.Ile593Ser)	CNGB3 (I593S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056572	NM_019098.5(CNGB3):c.995C>T (p.Thr332Ile)	CNGB3 (T332I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1053505	NM_019098.5(CNGB3):c.2180A>G (p.Gln727Arg)	CNGB3 (Q727R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1040310	NM_019098.5(CNGB3):c.353C>T (p.Pro118Leu)	CNGB3 (P118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1039771	NM_019098.5(CNGB3):c.803T>C (p.Met268Thr)	CNGB3 (M268T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034886	NM_019098.5(CNGB3):c.910G>T (p.Val304Phe)	CNGB3 (V304F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019992	NM_019098.5(CNGB3):c.613A>C (p.Lys205Gln)	CNGB3 (K205Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1018408	NM_019098.5(CNGB3):c.853G>A (p.Val285Met)	CNGB3 (V285M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015664	NM_019098.5(CNGB3):c.818C>T (p.Pro273Leu)	CNGB3 (P273L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999116	NM_006204.4(PDE6C):c.2284-10C>A	PDE6C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 991604	NM_019098.5(CNGB3):c.468C>T (p.Ser156=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991603	NM_019098.5(CNGB3):c.489A>T (p.Gln163His)	CNGB3 (Q163H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 991601	NM_019098.5(CNGB3):c.2103+4A>G	CNGB3	Single nucleotide variant (intron variant)	Achromatopsia	GUncertain significance
Select item 972284	NM_019098.5(CNGB3):c.1013A>G (p.Asn338Ser)	CNGB3 (N338S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972229	NM_019098.5(CNGB3):c.1811G>A (p.Arg604Gln)	CNGB3 (R604Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 972227	NM_019098.5(CNGB3):c.1829C>T (p.Ala610Val)	CNGB3 (A610V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972113	NM_019098.5(CNGB3):c.1204G>T (p.Val402Phe)	CNGB3 (V402F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 971940	NM_019098.5(CNGB3):c.206T>C (p.Ile69Thr)	CNGB3 (I69T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 971418	NM_019098.5(CNGB3):c.1982_1984dup (p.Asp661_Leu662insHis)	CNGB3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 970205	NM_019098.5(CNGB3):c.1126A>G (p.Asn376Asp)	CNGB3 (N376D)	Single nucleotide variant (missense variant)	not provided	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 968510	NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[3] (p.720QKENEDK[3])	CNGB3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 965279	NM_019098.5(CNGB3):c.475G>A (p.Glu159Lys)	CNGB3 (E159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 965098	NM_019098.5(CNGB3):c.115C>A (p.Gln39Lys)	CNGB3 (Q39K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963239	NM_019098.5(CNGB3):c.1052A>G (p.Tyr351Cys)	CNGB3 (Y351C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961595	NM_019098.5(CNGB3):c.2050G>A (p.Gly684Arg)	CNGB3 (G684R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 958631	NM_019098.5(CNGB3):c.2419G>T (p.Ala807Ser)	CNGB3 (A807S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 957102	NM_019098.5(CNGB3):c.441G>T (p.Lys147Asn)	CNGB3 (K147N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 952162	NM_019098.5(CNGB3):c.1924G>A (p.Ala642Thr)	CNGB3 (A642T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943224	NM_019098.5(CNGB3):c.74G>A (p.Arg25His)	CNGB3 (R25H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 930028	NM_007348.4(ATF6):c.484+1G>T	ATF6	Single nucleotide variant (splice donor variant)	Achromatopsia +1 more	GLikely pathogenic
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 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 880326	NM_006204.4(PDE6C):c.2304A>G (p.Lys768=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +1 more	GUncertain significance
Select item 880325	NM_006204.4(PDE6C):c.2269C>A (p.Gln757Lys)	PDE6C (Q757K)	Single nucleotide variant (missense variant)	Achromatopsia +1 more	GUncertain significance
Select item 880285	NM_006204.4(PDE6C):c.1629G>T (p.Glu543Asp)	PDE6C (E543D)	Single nucleotide variant (missense variant)	Achromatopsia +1 more	GUncertain significance
Select item 880284	NM_006204.4(PDE6C):c.1557C>T (p.His519=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 880177	NM_006204.4(PDE6C):c.466C>T (p.Pro156Ser)	PDE6C (P156S)	Single nucleotide variant (missense variant)	Cone dystrophy 4 +2 more	GConflicting classifications of pathogenicity
Select item 880176	NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser)	PDE6C (L138S)	Single nucleotide variant (missense variant)	Achromatopsia +4 more	GConflicting classifications of pathogenicity
Select item 879169	NM_006204.4(PDE6C):c.*64A>C	PDE6C	Single nucleotide variant (3 prime UTR variant)	Achromatopsia +1 more	GUncertain significance
Select item 879113	NM_006204.4(PDE6C):c.2087C>T (p.Thr696Met)	PDE6C (T696M)	Single nucleotide variant (missense variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 879064	NM_006204.4(PDE6C):c.1308T>G (p.Thr436=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 879011	NM_006204.4(PDE6C):c.873C>T (p.Tyr291=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 879010	NM_006204.4(PDE6C):c.792G>A (p.Ala264=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 878956	NM_006204.4(PDE6C):c.306G>A (p.Arg102=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 878955	NM_006204.4(PDE6C):c.283C>T (p.Arg95Cys)	PDE6C (R95C)	Single nucleotide variant (missense variant)	Achromatopsia +2 more	GUncertain significance
Select item 878481	NM_006204.4(PDE6C):c.1307C>G (p.Thr436Ser)	PDE6C (T436S)	Single nucleotide variant (missense variant)	Achromatopsia +2 more	GUncertain significance
Select item 878419	NM_006204.4(PDE6C):c.669C>T (p.Ile223=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +1 more	GUncertain significance
Select item 877550	NM_006204.4(PDE6C):c.2466G>C (p.Lys822Asn)	PDE6C (K822N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 877549	NM_006204.4(PDE6C):c.2386A>G (p.Lys796Glu)	PDE6C (K796E)	Single nucleotide variant (missense variant)	Achromatopsia +1 more	GUncertain significance
Select item 877548	NM_006204.4(PDE6C):c.2367G>A (p.Lys789=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +1 more	GUncertain significance
Select item 877503	NM_006204.4(PDE6C):c.1935+13C>T	PDE6C	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 877502	NM_006204.4(PDE6C):c.1630-4T>C	PDE6C	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 877458	NM_006204.4(PDE6C):c.1120-6T>C	PDE6C	Single nucleotide variant (intron variant)	Cone dystrophy 4 +2 more	GConflicting classifications of pathogenicity
Select item 877400	NM_006204.4(PDE6C):c.558G>A (p.Val186=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 877399	NM_006204.4(PDE6C):c.537G>T (p.Leu179=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 877341	NM_006204.4(PDE6C):c.-7C>A	PDE6C	Single nucleotide variant (5 prime UTR variant)	Achromatopsia +1 more	GUncertain significance
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 864589	NM_019098.5(CNGB3):c.503C>T (p.Thr168Met)	CNGB3 (T168M)	Single nucleotide variant (missense variant)	CNGB3-related disorder +2 more	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 861789	NM_019098.5(CNGB3):c.419G>A (p.Arg140His)	CNGB3 (R140H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 860651	NM_019098.5(CNGB3):c.2267G>A (p.Cys756Tyr)	CNGB3 (C756Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 858383	NM_019098.5(CNGB3):c.2342G>A (p.Arg781His)	CNGB3 (R781H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 858351	NM_019098.5(CNGB3):c.1738G>A (p.Val580Ile)	CNGB3 (V580I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 856503	NM_019098.5(CNGB3):c.1367G>A (p.Arg456His)	CNGB3 (R456H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 854439	NM_019098.5(CNGB3):c.2235G>C (p.Glu745Asp)	CNGB3 (E745D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 851098	NM_019098.5(CNGB3):c.1856T>C (p.Leu619Pro)	CNGB3 (L619P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 850605	NM_019098.5(CNGB3):c.1775A>G (p.Glu592Gly)	CNGB3 (E592G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 850169	NM_019098.5(CNGB3):c.260A>G (p.Asp87Gly)	CNGB3 (D87G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 846149	NM_019098.5(CNGB3):c.1178+6T>C	CNGB3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 846148	NM_019098.5(CNGB3):c.1117T>C (p.Trp373Arg)	CNGB3 (W373R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 845984	NM_019098.5(CNGB3):c.968T>G (p.Phe323Cys)	CNGB3 (F323C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 842818	NM_019098.5(CNGB3):c.768G>A (p.Ala256=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 842317	NM_019098.5(CNGB3):c.1378G>A (p.Asp460Asn)	CNGB3 (D460N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 840892	NM_019098.5(CNGB3):c.2107A>G (p.Lys703Glu)	CNGB3 (K703E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 838281	NM_019098.5(CNGB3):c.831T>G (p.Phe277Leu)	CNGB3 (F277L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 838193	NM_019098.5(CNGB3):c.82G>A (p.Glu28Lys)	CNGB3 (E28K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 837828	NM_019098.5(CNGB3):c.1834G>T (p.Gly612Trp)	CNGB3 (G612W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 836233	NM_019098.5(CNGB3):c.2375C>T (p.Ala792Val)	CNGB3 (A792V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 833680	NM_019098.5(CNGB3):c.1369G>A (p.Ala457Thr)	CNGB3 (A457T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 833524	NM_019098.5(CNGB3):c.450G>T (p.Leu150Phe)	CNGB3 (L150F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 813043	NM_019098.5(CNGB3):c.1055+1G>C	CNGB3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 813041	NM_001298.3(CNGA3):c.704A>T (p.Asp235Val)	CNGA3 (D217V +1 more)	Single nucleotide variant (missense variant)	Achromatopsia	GPathogenic

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