ClinVar for Gene (Select 54714) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384126	NM_019098.5(CNGB3):c.372_375del (p.Ile124fs)	CNGB3 (I124fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 3384125	NM_019098.5(CNGB3):c.1318C>T (p.Gln440Ter)	CNGB3 (Q440*)	Single nucleotide variant (nonsense)	Achromatopsia 3	GLikely pathogenic
Select item 3383363	NM_019098.5(CNGB3):c.1096_1104del (p.Ile366_Ala368del)	CNGB3	Deletion	Achromatopsia 3	GUncertain significance
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 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 3364503	NM_019098.5(CNGB3):c.1244A>C (p.Gln415Pro)	CNGB3 (Q415P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3268129	NM_019098.5(CNGB3):c.577A>C (p.Lys193Gln)	CNGB3 (K193Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3268128	NM_019098.5(CNGB3):c.1742T>C (p.Leu581Pro)	CNGB3 (L581P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268127	NM_019098.5(CNGB3):c.665T>C (p.Leu222Pro)	CNGB3 (L222P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268126	NM_019098.5(CNGB3):c.208C>G (p.Gln70Glu)	CNGB3 (Q70E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245592	NC_000008.10:g.(?_87616301)_(87666310_?)dup	CNGB3	Duplication	not provided	GLikely pathogenic
Select item 3245590	NC_000008.10:g.(?_87655959)_(87666310_?)dup	CNGB3	Duplication	not provided	GLikely pathogenic
Select item 3245589	NC_000008.10:g.(?_87674402)_(87679381_?)dup	CNGB3	Duplication	not provided	GLikely pathogenic
Select item 3245588	NC_000008.10:g.(?_87679133)_(87680416_?)del	CNGB3	Deletion	not provided	GPathogenic
Select item 3245587	NC_000008.10:g.(?_87588032)_(87683346_?)del	CNGB3	Deletion	not provided	GPathogenic
Select item 3245586	NC_000008.10:g.(?_87588032)_(87623919_?)del	CNGB3	Deletion	not provided	GPathogenic
Select item 3245585	NC_000008.10:g.(?_87638191)_(87641326_?)del	CNGB3	Deletion	not provided	GPathogenic
Select item 3146468	NM_019098.5(CNGB3):c.850A>G (p.Ile284Val)	CNGB3 (I284V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146466	NM_019098.5(CNGB3):c.1456A>G (p.Thr486Ala)	CNGB3 (T486A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063859	NM_019098.5(CNGB3):c.2103+3A>G	CNGB3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3063037	GRCh37/hg19 8q21.2-21.3(chr8:85339090-89534521)x3	ATP6V0D2, CA1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3015572	NM_019098.5(CNGB3):c.1480+8T>C	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014466	NM_019098.5(CNGB3):c.1321-18C>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012700	NM_019098.5(CNGB3):c.1125A>G (p.Ser375=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011743	NM_019098.5(CNGB3):c.324A>G (p.Lys108=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010889	NM_019098.5(CNGB3):c.448T>C (p.Leu150=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005123	NM_019098.5(CNGB3):c.1178+13T>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002462	NM_019098.5(CNGB3):c.853-7C>A	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001887	NM_019098.5(CNGB3):c.903+12_903+15del	CNGB3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3001365	NM_019098.5(CNGB3):c.643+8C>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000391	NM_019098.5(CNGB3):c.903+15A>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999990	NM_019098.5(CNGB3):c.447G>A (p.Lys149=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999684	NM_019098.5(CNGB3):c.644-13G>A	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999544	NM_019098.5(CNGB3):c.2216ATAAAG[1] (p.739DK[1])	CNGB3	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2995245	NM_019098.5(CNGB3):c.644-14T>C	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994308	NM_019098.5(CNGB3):c.991-6A>C	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994107	NM_019098.5(CNGB3):c.494-19_494-18insG	CNGB3	Insertion (intron variant)	not provided	GLikely benign
Select item 2994030	NM_019098.5(CNGB3):c.1941G>A (p.Lys647=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992392	NM_019098.5(CNGB3):c.1932G>A (p.Val644=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990455	NM_019098.5(CNGB3):c.1481-16G>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990293	NM_019098.5(CNGB3):c.1662+14A>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990199	NM_019098.5(CNGB3):c.211+16del	CNGB3	Deletion (intron variant)	not provided	GLikely benign
Select item 2989112	NM_019098.5(CNGB3):c.644-19C>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988471	NM_019098.5(CNGB3):c.1578+15A>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984653	NM_019098.5(CNGB3):c.1521G>A (p.Gln507=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983668	NM_019098.5(CNGB3):c.192G>A (p.Glu64=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981288	NM_019098.5(CNGB3):c.1432C>A (p.Arg478=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981118	NM_019098.5(CNGB3):c.853-11A>C	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980398	NM_019098.5(CNGB3):c.338+15A>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979486	NM_019098.5(CNGB3):c.1782-19T>A	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979163	NM_019098.5(CNGB3):c.981G>A (p.Arg327=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978811	NM_019098.5(CNGB3):c.903+18T>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975224	NM_019098.5(CNGB3):c.1781+14A>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972616	NM_019098.5(CNGB3):c.1574_1575del (p.Leu524_Phe525insTer)	CNGB3	Deletion (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 2972285	NM_019098.5(CNGB3):c.531T>C (p.Asp177=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971860	NM_019098.5(CNGB3):c.2382C>G (p.Gly794=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967929	NM_019098.5(CNGB3):c.1182T>C (p.Tyr394=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966329	NM_019098.5(CNGB3):c.1512T>C (p.Thr504=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965139	NM_019098.5(CNGB3):c.2103+10T>A	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964352	NM_019098.5(CNGB3):c.1710A>G (p.Gln570=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962209	NM_019098.5(CNGB3):c.1050_1051del (p.Tyr351fs)	CNGB3 (Y351fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2961215	NM_019098.5(CNGB3):c.493+17C>A	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958714	NM_019098.5(CNGB3):c.1071T>G (p.Thr357=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956666	NM_019098.5(CNGB3):c.644-12C>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954985	NM_019098.5(CNGB3):c.130-16A>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918846	NM_019098.5(CNGB3):c.1179-19A>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917563	NM_019098.5(CNGB3):c.1481-15T>C	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916031	NM_019098.5(CNGB3):c.853-18A>C	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912473	NM_019098.5(CNGB3):c.1578+16A>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911547	NM_019098.5(CNGB3):c.903+13C>A	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910526	NM_019098.5(CNGB3):c.211+17A>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909937	NM_019098.5(CNGB3):c.1480+19C>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909926	NM_019098.5(CNGB3):c.1929-13C>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909210	NM_019098.5(CNGB3):c.904-17A>C	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908246	NM_019098.5(CNGB3):c.494-17T>A	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906417	NM_019098.5(CNGB3):c.493+12T>C	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904302	NM_019098.5(CNGB3):c.494-11T>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899106	NM_019098.5(CNGB3):c.1178+16G>C	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898633	NM_019098.5(CNGB3):c.1578+7G>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897593	NM_019098.5(CNGB3):c.2038del (p.Leu679_Leu680insTer)	CNGB3	Deletion (nonsense)	not provided	GPathogenic
Select item 2896656	NM_019098.5(CNGB3):c.339-18del	CNGB3	Deletion (intron variant)	not provided	GLikely benign
Select item 2893929	NM_019098.5(CNGB3):c.130-12T>A	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890054	NM_019098.5(CNGB3):c.339-15T>A	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888736	NM_019098.5(CNGB3):c.130-16_130-15del	CNGB3	Deletion (intron variant)	not provided	GLikely benign
Select item 2884902	NM_019098.5(CNGB3):c.338+13_338+14del	CNGB3	Deletion (intron variant)	not provided	GLikely benign
Select item 2883976	NM_019098.5(CNGB3):c.1178+20G>A	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878987	NM_019098.5(CNGB3):c.1230C>G (p.Gly410=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878365	NM_019098.5(CNGB3):c.1482del (p.Asp494fs)	CNGB3 (D494fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2877183	NM_019098.5(CNGB3):c.1781+19A>T	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874895	NM_019098.5(CNGB3):c.643+1G>A	CNGB3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2874587	NM_019098.5(CNGB3):c.1480+14A>G	CNGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874228	NM_019098.5(CNGB3):c.2361C>T (p.Ser787=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872592	NM_019098.5(CNGB3):c.408G>T (p.Val136=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871444	NM_019098.5(CNGB3):c.273A>T (p.Ala91=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869727	NM_019098.5(CNGB3):c.1194T>C (p.Tyr398=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869720	NM_019098.5(CNGB3):c.1055+2T>A	CNGB3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2867785	NM_019098.5(CNGB3):c.300G>A (p.Glu100=)	CNGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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