ClinVar for Gene (Select 1258) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3146463	NM_001297.5(CNGB1):c.1427G>A (p.Ser476Asn)	CNGB1 (S476N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146462	NM_001297.5(CNGB1):c.1339C>G (p.Pro447Ala)	CNGB1 (P447A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146461	NM_001297.5(CNGB1):c.1046G>C (p.Arg349Pro)	CNGB1 (R343P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 3033405	NM_001297.5(CNGB1):c.270T>G (p.Ala90=)	CNGB1	Single nucleotide variant (synonymous variant)	CNGB1-related disorder	GLikely benign
Select item 3028409	NM_001297.5(CNGB1):c.106G>A (p.Glu36Lys)	CNGB1 (E36K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028408	NM_001297.5(CNGB1):c.190G>T (p.Val64Leu)	CNGB1 (V64L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028407	NM_001297.5(CNGB1):c.257G>C (p.Arg86Pro)	CNGB1 (R86P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028406	NM_001297.5(CNGB1):c.293C>G (p.Pro98Arg)	CNGB1 (P98R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028404	NM_001297.5(CNGB1):c.358A>G (p.Ser120Gly)	CNGB1 (S120G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028403	NM_001297.5(CNGB1):c.413-1G>C	CNGB1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GUncertain significance
Select item 3028402	NM_001297.5(CNGB1):c.622C>T (p.Gln208Ter)	CNGB1 (Q202* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3028401	NM_001297.5(CNGB1):c.641C>G (p.Ser214Cys)	CNGB1 (S208C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028400	NM_001297.5(CNGB1):c.775G>T (p.Val259Phe)	CNGB1 (V253F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028399	NM_001297.5(CNGB1):c.997T>C (p.Tyr333His)	CNGB1 (Y327H +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028398	NM_001297.5(CNGB1):c.1450A>G (p.Asn484Asp)	CNGB1 (N478D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028397	NM_001297.5(CNGB1):c.1976_1980dup (p.Phe661fs)	CNGB1 (F655fs +1 more)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028396	NM_001297.5(CNGB1):c.2014T>G (p.Trp672Gly)	CNGB1 (W666G +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028395	NM_001297.5(CNGB1):c.2066A>G (p.His689Arg)	CNGB1 (H683R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely benign
Select item 3028394	NM_001297.5(CNGB1):c.2252T>G (p.Leu751Arg)	CNGB1 (L745R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028393	NM_001297.5(CNGB1):c.2256T>C (p.Tyr752=)	CNGB1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028392	NM_001297.5(CNGB1):c.2305-1G>A	CNGB1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GUncertain significance
Select item 3028391	NM_001297.5(CNGB1):c.2415T>C (p.Asn805=)	CNGB1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028390	NM_001297.5(CNGB1):c.2455G>A (p.Gly819Ser)	CNGB1 (G813S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028389	NM_001297.5(CNGB1):c.2500C>T (p.Arg834Cys)	CNGB1 (R828C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028388	NM_001297.5(CNGB1):c.2534C>T (p.Thr845Ile)	CNGB1 (T839I +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028387	NM_001297.5(CNGB1):c.2542_2543insA (p.Gly848fs)	CNGB1 (G842fs +1 more)	Insertion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028386	NM_001297.5(CNGB1):c.2653G>T (p.Ala885Ser)	CNGB1 (A879S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028385	NM_001297.5(CNGB1):c.2728C>T (p.Pro910Ser)	CNGB1 (P904S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028383	NM_001297.5(CNGB1):c.2789T>C (p.Met930Thr)	CNGB1 (M924T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 3028382	NM_001297.5(CNGB1):c.2829G>C (p.Lys943Asn)	CNGB1 (K937N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028381	NM_001297.5(CNGB1):c.2969G>A (p.Cys990Tyr)	CNGB1 (C984Y +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028380	NM_001297.5(CNGB1):c.3125G>A (p.Arg1042His)	CNGB1 (R1036H +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028379	NM_001297.5(CNGB1):c.3149G>C (p.Gly1050Ala)	CNGB1 (G1044A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028378	NM_001297.5(CNGB1):c.3175AAG[1] (p.Lys1060del)	CNGB1 (K1054del +1 more)	Microsatellite (inframe_deletion)	Retinal dystrophy	GUncertain significance
Select item 3028376	NM_001297.5(CNGB1):c.3307del (p.Ala1103fs)	CNGB1 (A1097fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028375	NM_001297.5(CNGB1):c.3401C>T (p.Ala1134Val)	CNGB1 (A1128V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028373	NM_001297.5(CNGB1):c.3678C>A (p.Cys1226Ter)	CNGB1 (C1220* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GUncertain significance
Select item 3028372	NM_001297.5(CNGB1):c.3692C>A (p.Pro1231Gln)	CNGB1 (P1225Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028371	NM_001297.5(CNGB1):c.3710T>C (p.Ile1237Thr)	CNGB1 (I1231T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028370	NM_001297.5(CNGB1):c.3717G>A (p.Ser1239=)	CNGB1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027105	NM_001297.5(CNGB1):c.821G>T (p.Gly274Val)	CNGB1 (G268V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013659	NM_001297.5(CNGB1):c.1643+10C>G	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008538	NM_001297.5(CNGB1):c.3552C>G (p.Pro1184=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007078	NM_001297.5(CNGB1):c.2847C>T (p.Ala949=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002606	NM_001297.5(CNGB1):c.1121+1G>A	CNGB1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3000256	NM_001297.5(CNGB1):c.3582G>A (p.Gly1194=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999926	NM_001297.5(CNGB1):c.1644-18T>C	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997870	NM_001297.5(CNGB1):c.1801+11A>G	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997304	NM_001297.5(CNGB1):c.1210-8C>T	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994794	NM_001297.5(CNGB1):c.345G>A (p.Pro115=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993560	NM_001297.5(CNGB1):c.2305-18G>A	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990673	NM_001297.5(CNGB1):c.2370-20G>T	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989940	NM_001297.5(CNGB1):c.3573G>A (p.Glu1191=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979358	NM_001297.5(CNGB1):c.732C>T (p.Ser244=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975640	NM_001297.5(CNGB1):c.2118C>T (p.Ile706=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975510	NM_001297.5(CNGB1):c.1323G>A (p.Ala441=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973672	NM_001297.5(CNGB1):c.1845C>T (p.Pro615=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2972810	NM_001297.5(CNGB1):c.801del (p.Leu267fs)	CNGB1 (L261fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2972099	NM_001297.5(CNGB1):c.763C>T (p.Leu255=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964961	NM_001297.5(CNGB1):c.2643T>C (p.Asp881=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960516	NM_001297.5(CNGB1):c.3654C>T (p.Pro1218=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960093	NM_001297.5(CNGB1):c.583+18C>T	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959027	NM_001297.5(CNGB1):c.267C>T (p.Gly89=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956010	NM_001297.5(CNGB1):c.787C>T (p.Leu263=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879150	NM_001297.5(CNGB1):c.218-14A>G	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879061	NM_001297.5(CNGB1):c.838-12C>T	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876463	NM_001297.5(CNGB1):c.2353A>T (p.Lys785Ter)	CNGB1 (K779* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2868349	NM_001297.5(CNGB1):c.2280C>T (p.Leu760=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864624	NM_001297.5(CNGB1):c.2166+5G>A	CNGB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2861910	NM_001297.5(CNGB1):c.2370-87_2372del	CNGB1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2858032	NM_001297.5(CNGB1):c.1308G>A (p.Glu436=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836438	NM_001297.5(CNGB1):c.2635-15T>C	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822100	NM_001297.5(CNGB1):c.1644-4A>C	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819544	NM_001297.5(CNGB1):c.1950G>T (p.Pro650=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817655	NM_001297.5(CNGB1):c.2893-9C>A	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815488	NM_001297.5(CNGB1):c.3513C>T (p.Asp1171=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807803	NM_001297.5(CNGB1):c.1928A>G (p.Gln643Arg)	CNGB1 (Q637R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805754	NM_001297.5(CNGB1):c.747C>G (p.Thr249=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804274	NM_001297.5(CNGB1):c.1977G>A (p.Trp659Ter)	CNGB1 (W653* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2802875	NM_001297.5(CNGB1):c.1035-15C>G	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802624	NM_001297.5(CNGB1):c.2520G>A (p.Val840=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801736	NM_001297.5(CNGB1):c.2794+18T>C	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799367	NM_001297.5(CNGB1):c.2369+9C>A	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799080	NM_001297.5(CNGB1):c.2160C>T (p.Asp720=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793812	NM_001297.5(CNGB1):c.699A>G (p.Pro233=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791544	NM_001297.5(CNGB1):c.176del (p.Phe59fs)	CNGB1 (F59fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2788521	NM_001297.5(CNGB1):c.1209+10G>A	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785880	NM_001297.5(CNGB1):c.1535+9T>C	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785496	NM_001297.5(CNGB1):c.382-15G>T	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781894	NM_001297.5(CNGB1):c.1373-15C>T	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781641	NM_001297.5(CNGB1):c.412+1G>T	CNGB1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2771655	NM_001297.5(CNGB1):c.159+9T>A	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716373	NM_001297.5(CNGB1):c.2217+19A>G	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714869	NM_001297.5(CNGB1):c.2635-4C>A	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709391	NM_001297.5(CNGB1):c.1978C>T (p.Leu660=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702612	NM_001297.5(CNGB1):c.160-8C>A	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702086	NM_001297.5(CNGB1):c.1329C>T (p.Thr443=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702061	NM_001297.5(CNGB1):c.458+11A>G	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697174	NM_001297.5(CNGB1):c.1536-10G>A	CNGB1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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