CLTCL1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2374875	NM_007098.4(CLTCL1):c.4870G>A (p.Glu1624Lys)	CLTCL1 (E1624K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652855	NM_007098.4(CLTCL1):c.4859G>A (p.Arg1620His)	CLTCL1 (R1563H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2460057	NM_007098.4(CLTCL1):c.4802A>G (p.Gln1601Arg)	CLTCL1 (Q1544R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262625	NM_007098.4(CLTCL1):c.4774G>A (p.Val1592Met)	CLTCL1 (V1535M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716364	NM_007098.4(CLTCL1):c.4774G>C (p.Val1592Leu)	CLTCL1 (V1535L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3032524	NM_007098.4(CLTCL1):c.4746G>A (p.Val1582=)	CLTCL1	Single nucleotide variant (synonymous variant)	CLTCL1-related disorder	GLikely benign
Select item 784888	NM_007098.4(CLTCL1):c.4721_4730del (p.Tyr1574fs)	CLTCL1 (Y1517fs +1 more)	Deletion (frameshift variant)	not provided	GBenign
Select item 2389477	NM_007098.4(CLTCL1):c.4699G>A (p.Ala1567Thr)	CLTCL1 (A1510T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366080	NM_007098.4(CLTCL1):c.4677G>C (p.Glu1559Asp)	CLTCL1 (E1502D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718483	NM_007098.4(CLTCL1):c.4655dup (p.Leu1553fs)	CLTCL1 (L1553fs +1 more)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 3039365	NM_007098.4(CLTCL1):c.4647G>A (p.Leu1549=)	CLTCL1	Single nucleotide variant (synonymous variant)	CLTCL1-related disorder	GLikely benign
Select item 2236100	NM_007098.4(CLTCL1):c.4637A>G (p.Asp1546Gly)	CLTCL1 (D1489G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464754	NM_007098.4(CLTCL1):c.4552A>T (p.Asn1518Tyr)	CLTCL1 (N1518Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363934	NM_007098.4(CLTCL1):c.4514T>C (p.Met1505Thr)	CLTCL1 (M1505T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358754	NM_007098.4(CLTCL1):c.4462G>C (p.Asp1488His)	CLTCL1 (D1488H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354967	NM_007098.4(CLTCL1):c.4462G>A (p.Asp1488Asn)	CLTCL1 (D1488N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 794463	NM_007098.4(CLTCL1):c.4436G>C (p.Gly1479Ala)	CLTCL1 (G1479A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2652856	NM_007098.4(CLTCL1):c.4434+7G>A	CLTCL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2212020	NM_007098.4(CLTCL1):c.4396G>A (p.Ala1466Thr)	CLTCL1 (A1466T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372018	NM_007098.4(CLTCL1):c.4348C>T (p.Pro1450Ser)	CLTCL1 (P1450S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146116	NM_007098.4(CLTCL1):c.4332G>C (p.Gln1444His)	CLTCL1 (Q1444H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652857	NM_007098.4(CLTCL1):c.4331A>G (p.Gln1444Arg)	CLTCL1 (Q1444R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3267918	NM_007098.4(CLTCL1):c.4286G>A (p.Arg1429Gln)	CLTCL1 (R1429Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 422195	NM_007098.4(CLTCL1):c.4285C>T (p.Arg1429Trp)	CLTCL1 (R1429W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3046773	NM_007098.4(CLTCL1):c.4272G>T (p.Leu1424=)	CLTCL1	Single nucleotide variant (synonymous variant)	CLTCL1-related disorder	GLikely benign
Select item 3146115	NM_007098.4(CLTCL1):c.4231T>C (p.Tyr1411His)	CLTCL1 (Y1411H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725764	NM_007098.4(CLTCL1):c.4191+10G>A	CLTCL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652858	NM_007098.4(CLTCL1):c.4191+2dup	CLTCL1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 3059365	NM_007098.4(CLTCL1):c.4181T>C (p.Ile1394Thr)	CLTCL1 (I1394T)	Single nucleotide variant (missense variant)	CLTCL1-related disorder	GBenign
Select item 3267928	NM_007098.4(CLTCL1):c.4154C>T (p.Ala1385Val)	CLTCL1 (A1385V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287597	NM_007098.4(CLTCL1):c.4105G>A (p.Glu1369Lys)	CLTCL1 (E1369K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556148	NM_007098.4(CLTCL1):c.4090C>T (p.Leu1364Phe)	CLTCL1 (L1364F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740052	NM_007098.4(CLTCL1):c.4050G>A (p.Arg1350=)	CLTCL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733009	NM_007098.4(CLTCL1):c.4041+5C>T	CLTCL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652859	NM_007098.4(CLTCL1):c.4036C>T (p.Pro1346Ser)	CLTCL1 (P1346S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3146114	NM_007098.4(CLTCL1):c.4031A>G (p.Asn1344Ser)	CLTCL1 (N1344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215237	NM_007098.4(CLTCL1):c.3977A>T (p.Lys1326Ile)	CLTCL1 (K1326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288568	NM_007098.4(CLTCL1):c.3946A>G (p.Met1316Val)	CLTCL1 (M1316V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3267920	NM_007098.4(CLTCL1):c.3940A>G (p.Met1314Val)	CLTCL1 (M1314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746437	NM_007098.4(CLTCL1):c.3915G>A (p.Ala1305=)	CLTCL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 252673	NM_007098.4(CLTCL1):c.3874-4C>G	CLTCL1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2216259	NM_007098.4(CLTCL1):c.3826A>G (p.Ile1276Val)	CLTCL1 (I1276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267925	NM_007098.4(CLTCL1):c.3814T>C (p.Cys1272Arg)	CLTCL1 (C1272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146113	NM_007098.4(CLTCL1):c.3755C>T (p.Thr1252Met)	CLTCL1 (T1252M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770307	NM_007098.4(CLTCL1):c.3729C>T (p.Asn1243=)	CLTCL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2548319	NM_007098.4(CLTCL1):c.3691T>G (p.Leu1231Val)	CLTCL1 (L1231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348030	NM_007098.4(CLTCL1):c.3634G>A (p.Glu1212Lys)	CLTCL1 (E1212K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241691	NM_007098.4(CLTCL1):c.3611G>A (p.Arg1204His)	CLTCL1 (R1204H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289582	NM_007098.4(CLTCL1):c.3610C>G (p.Arg1204Gly)	CLTCL1 (R1204G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402548	NM_007098.4(CLTCL1):c.3601-1dup	CLTCL1	Duplication (splice acceptor variant)	not specified	GBenign
Select item 2688796	NM_007098.4(CLTCL1):c.3595C>T (p.Gln1199Ter)	CLTCL1 (Q1199*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3059665	NM_007098.4(CLTCL1):c.3584A>G (p.Asn1195Ser)	CLTCL1 (N1195S)	Single nucleotide variant (missense variant)	CLTCL1-related disorder	GBenign
Select item 2292430	NM_007098.4(CLTCL1):c.3568A>G (p.Ile1190Val)	CLTCL1 (I1190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267912	NM_007098.4(CLTCL1):c.3545G>A (p.Arg1182His)	CLTCL1 (R1182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267919	NM_007098.4(CLTCL1):c.3515A>C (p.Glu1172Ala)	CLTCL1 (E1172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469860	NM_007098.4(CLTCL1):c.3505A>G (p.Ile1169Val)	CLTCL1 (I1169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345957	NM_007098.4(CLTCL1):c.3494G>A (p.Arg1165His)	CLTCL1 (R1165H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 445797	NM_007098.4(CLTCL1):c.3493C>T (p.Arg1165Cys)	CLTCL1 (R1165C)	Single nucleotide variant (missense variant)	Autism +1 more	GBenign
Select item 2274386	NM_007098.4(CLTCL1):c.3484A>C (p.Lys1162Gln)	CLTCL1 (K1162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 422194	NM_007098.4(CLTCL1):c.3425A>G (p.Gln1142Arg)	CLTCL1 (Q1142R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2218528	NM_007098.4(CLTCL1):c.3395A>G (p.Asp1132Gly)	CLTCL1 (D1132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545515	NM_007098.4(CLTCL1):c.3389G>A (p.Arg1130Lys)	CLTCL1 (R1130K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372160	NM_007098.4(CLTCL1):c.3337C>A (p.Gln1113Lys)	CLTCL1 (Q1113K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3146111	NM_007098.4(CLTCL1):c.3313C>G (p.Pro1105Ala)	CLTCL1 (P1105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 445839	NM_007098.4(CLTCL1):c.3306C>A (p.Cys1102Ter)	CLTCL1 (C1102*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3146110	NM_007098.4(CLTCL1):c.3303A>T (p.Arg1101Ser)	CLTCL1 (R1101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146109	NM_007098.4(CLTCL1):c.3296C>T (p.Ala1099Val)	CLTCL1 (A1099V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267917	NM_007098.4(CLTCL1):c.3286T>C (p.Tyr1096His)	CLTCL1 (Y1096H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240229	NM_007098.4(CLTCL1):c.3281G>A (p.Arg1094Gln)	CLTCL1 (R1094Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332381	NM_007098.4(CLTCL1):c.3280C>T (p.Arg1094Trp)	CLTCL1 (R1094W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243319	NM_007098.4(CLTCL1):c.3200A>T (p.Glu1067Val)	CLTCL1 (E1067V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241801	NM_007098.4(CLTCL1):c.3181A>G (p.Ser1061Gly)	CLTCL1 (S1061G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050839	NM_007098.4(CLTCL1):c.3168G>A (p.Ala1056=)	CLTCL1	Single nucleotide variant (synonymous variant)	CLTCL1-related disorder	GLikely benign
Select item 2652860	NM_007098.4(CLTCL1):c.3165C>T (p.Ile1055=)	CLTCL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615849	NM_007098.4(CLTCL1):c.3137G>C (p.Arg1046Pro)	CLTCL1 (R1046P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060068	NM_007098.4(CLTCL1):c.3136C>T (p.Arg1046Cys)	CLTCL1 (R1046C)	Single nucleotide variant (missense variant)	CLTCL1-related disorder	GBenign
Select item 720803	NM_007098.4(CLTCL1):c.3097A>T (p.Ile1033Phe)	CLTCL1 (I1033F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3037959	NM_007098.4(CLTCL1):c.3068A>T (p.Asn1023Ile)	CLTCL1 (N1023I)	Single nucleotide variant (missense variant)	CLTCL1-related disorder	GBenign
Select item 3146107	NM_007098.4(CLTCL1):c.3061C>T (p.His1021Tyr)	CLTCL1 (H1021Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726928	NM_007098.4(CLTCL1):c.3006T>C (p.Asn1002=)	CLTCL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2408740	NM_007098.4(CLTCL1):c.2920G>A (p.Val974Met)	CLTCL1 (V974M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146106	NM_007098.4(CLTCL1):c.2843T>G (p.Val948Gly)	CLTCL1 (V948G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786374	NM_007098.4(CLTCL1):c.2834G>A (p.Arg945His)	CLTCL1 (R945H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788926	NM_007098.4(CLTCL1):c.2822A>G (p.Lys941Arg)	CLTCL1 (K941R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2515169	NM_007098.4(CLTCL1):c.2768G>A (p.Arg923Gln)	CLTCL1 (R923Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040473	NM_007098.4(CLTCL1):c.2760C>G (p.Ala920=)	CLTCL1	Single nucleotide variant (synonymous variant)	CLTCL1-related disorder	GLikely benign
Select item 2212172	NM_007098.4(CLTCL1):c.2735G>A (p.Arg912Gln)	CLTCL1 (R912Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146105	NM_007098.4(CLTCL1):c.2719C>T (p.Arg907Cys)	CLTCL1 (R907C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146102	NM_007098.4(CLTCL1):c.2503G>A (p.Ala835Thr)	CLTCL1 (A835T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236877	NM_007098.4(CLTCL1):c.2499C>G (p.Ile833Met)	CLTCL1 (I833M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733010	NM_007098.4(CLTCL1):c.2432G>A (p.Arg811Gln)	CLTCL1 (R811Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3358185	NM_007098.4(CLTCL1):c.2403G>C (p.Glu801Asp)	CLTCL1 (E801D)	Single nucleotide variant (missense variant)	CLTCL1-related disorder	GUncertain significance
Select item 3267921	NM_007098.4(CLTCL1):c.2378G>A (p.Arg793His)	CLTCL1 (R793H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465771	NM_007098.4(CLTCL1):c.2279A>G (p.Lys760Arg)	CLTCL1 (K760R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330139	NM_007098.4(CLTCL1):c.2275G>A (p.Val759Met)	CLTCL1 (V759M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726220	NM_007098.4(CLTCL1):c.2239A>T (p.Ile747Leu)	CLTCL1 (I747L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 623973	NM_007098.4(CLTCL1):c.2200G>A (p.Ala734Thr)	CLTCL1 (A734T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291274	NM_007098.4(CLTCL1):c.2184T>G (p.His728Gln)	CLTCL1 (H728Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146101	NM_007098.4(CLTCL1):c.2180T>C (p.Val727Ala)	CLTCL1 (V727A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337919	NM_007098.4(CLTCL1):c.2177A>C (p.Asp726Ala)	CLTCL1 (D726A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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