"Ambry Genetics"[submitter] AND "CLTCL1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 110

<< First< Prev

Page of 2

	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 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 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 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 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 3267918	NM_007098.4(CLTCL1):c.4286G>A (p.Arg1429Gln)	CLTCL1 (R1429Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3267920	NM_007098.4(CLTCL1):c.3940A>G (p.Met1314Val)	CLTCL1 (M1314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 provided +1 more	GConflicting classifications of pathogenicity
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 provided +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 provided +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 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 2615849	NM_007098.4(CLTCL1):c.3137G>C (p.Arg1046Pro)	CLTCL1 (R1046P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2515169	NM_007098.4(CLTCL1):c.2768G>A (p.Arg923Gln)	CLTCL1 (R923Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3267922	NM_007098.4(CLTCL1):c.2020A>G (p.Asn674Asp)	CLTCL1 (N674D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495013	NM_007098.4(CLTCL1):c.1801G>A (p.Gly601Arg)	CLTCL1 (G601R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601544	NM_007098.4(CLTCL1):c.1772A>T (p.His591Leu)	CLTCL1 (H591L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267915	NM_007098.4(CLTCL1):c.1744A>G (p.Thr582Ala)	CLTCL1 (T582A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268063	NM_007098.4(CLTCL1):c.1742A>G (p.Gln581Arg)	CLTCL1 (Q581R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540543	NM_007098.4(CLTCL1):c.1730A>C (p.Glu577Ala)	CLTCL1 (E577A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146100	NM_007098.4(CLTCL1):c.1688C>T (p.Thr563Ile)	CLTCL1 (T563I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455272	NM_007098.4(CLTCL1):c.1577C>T (p.Pro526Leu)	CLTCL1 (P526L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267911	NM_007098.4(CLTCL1):c.1435T>G (p.Tyr479Asp)	CLTCL1, LOC126863097 (Y479D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146099	NM_007098.4(CLTCL1):c.1406C>A (p.Thr469Asn)	CLTCL1, LOC126863097 (T469N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405569	NM_007098.4(CLTCL1):c.1390G>A (p.Gly464Arg)	CLTCL1, LOC126863097 (G464R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237010	NM_007098.4(CLTCL1):c.1334A>T (p.Lys445Met)	CLTCL1, LOC126863097 (K445M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237009	NM_007098.4(CLTCL1):c.1331G>T (p.Arg444Leu)	CLTCL1, LOC126863097 (R444L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146098	NM_007098.4(CLTCL1):c.1255G>A (p.Gly419Arg)	CLTCL1, LOC126863097 (G419R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287317	NM_007098.4(CLTCL1):c.1237C>T (p.Pro413Ser)	CLTCL1, LOC126863097 (P413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146097	NM_007098.4(CLTCL1):c.1211T>C (p.Ile404Thr)	CLTCL1, LOC126863097 (I404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526464	NM_007098.4(CLTCL1):c.1190C>T (p.Thr397Met)	CLTCL1, LOC126863097 (T397M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337785	NM_007098.4(CLTCL1):c.1126A>G (p.Ser376Gly)	CLTCL1 (S376G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540030	NM_007098.4(CLTCL1):c.1123G>C (p.Gly375Arg)	CLTCL1 (G375R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146096	NM_007098.4(CLTCL1):c.1091T>C (p.Phe364Ser)	CLTCL1 (F364S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378918	NM_007098.4(CLTCL1):c.1003G>T (p.Val335Leu)	CLTCL1 (V335L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146122	NM_007098.4(CLTCL1):c.985G>A (p.Val329Ile)	CLTCL1 (V329I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146121	NM_007098.4(CLTCL1):c.927C>G (p.His309Gln)	CLTCL1 (H309Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517984	NM_007098.4(CLTCL1):c.925C>T (p.His309Tyr)	CLTCL1 (H309Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146120	NM_007098.4(CLTCL1):c.912T>A (p.Phe304Leu)	CLTCL1 (F304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255125	NM_007098.4(CLTCL1):c.887A>G (p.Asn296Ser)	CLTCL1 (N296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146119	NM_007098.4(CLTCL1):c.865T>C (p.Ser289Pro)	CLTCL1 (S289P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251667	NM_007098.4(CLTCL1):c.842A>G (p.Tyr281Cys)	CLTCL1 (Y281C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549985	NM_007098.4(CLTCL1):c.838G>C (p.Gly280Arg)	CLTCL1 (G280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267914	NM_007098.4(CLTCL1):c.784G>T (p.Val262Leu)	CLTCL1 (V262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361548	NM_007098.4(CLTCL1):c.701G>T (p.Gly234Val)	CLTCL1 (G234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408984	NM_007098.4(CLTCL1):c.686A>G (p.His229Arg)	CLTCL1 (H229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267923	NM_007098.4(CLTCL1):c.637G>T (p.Ala213Ser)	CLTCL1 (A213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267913	NM_007098.4(CLTCL1):c.502G>T (p.Val168Leu)	CLTCL1 (V168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146118	NM_007098.4(CLTCL1):c.502G>A (p.Val168Ile)	CLTCL1 (V168I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267926	NM_007098.4(CLTCL1):c.478G>A (p.Glu160Lys)	CLTCL1 (E160K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588978	NM_007098.4(CLTCL1):c.470G>A (p.Arg157Gln)	CLTCL1 (R157Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490928	NM_007098.4(CLTCL1):c.460A>G (p.Ile154Val)	CLTCL1 (I154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530936	NM_007098.4(CLTCL1):c.425T>C (p.Phe142Ser)	CLTCL1 (F142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475177	NM_007098.4(CLTCL1):c.415A>C (p.Met139Leu)	CLTCL1 (M139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247668	NM_007098.4(CLTCL1):c.377C>T (p.Ala126Val)	CLTCL1 (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2