ClinVar for Gene (Select 3915) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358073	NM_002293.4(LAMC1):c.2538G>A (p.Thr846=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 3290053	NM_002293.4(LAMC1):c.552C>A (p.Asn184Lys)	LAMC1 (N184K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290052	NM_002293.4(LAMC1):c.3833A>G (p.Asp1278Gly)	LAMC1 (D1278G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290051	NM_002293.4(LAMC1):c.4130T>C (p.Val1377Ala)	LAMC1 (V1377A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290050	NM_002293.4(LAMC1):c.4751A>C (p.Lys1584Thr)	LAMC1 (K1584T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290048	NM_002293.4(LAMC1):c.4346G>T (p.Arg1449Ile)	LAMC1 (R1449I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290047	NM_002293.4(LAMC1):c.3039C>A (p.Asp1013Glu)	LAMC1 (D1013E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290046	NM_002293.4(LAMC1):c.3811G>A (p.Val1271Met)	LAMC1 (V1271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290045	NM_002293.4(LAMC1):c.1706A>T (p.Gln569Leu)	LAMC1 (Q569L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3117699	NM_002293.4(LAMC1):c.771C>A (p.Asn257Lys)	LAMC1 (N257K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117698	NM_002293.4(LAMC1):c.698A>G (p.Asn233Ser)	LAMC1 (N233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117697	NM_002293.4(LAMC1):c.553A>G (p.Thr185Ala)	LAMC1 (T185A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117696	NM_002293.4(LAMC1):c.4760G>A (p.Arg1587His)	LAMC1 (R1587H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117695	NM_002293.4(LAMC1):c.4754A>G (p.Asp1585Gly)	LAMC1 (D1585G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117694	NM_002293.4(LAMC1):c.4583A>G (p.Asp1528Gly)	LAMC1 (D1528G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117693	NM_002293.4(LAMC1):c.4382T>C (p.Val1461Ala)	LAMC1 (V1461A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117692	NM_002293.4(LAMC1):c.4366G>A (p.Asp1456Asn)	LAMC1 (D1456N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117690	NM_002293.4(LAMC1):c.3865A>G (p.Ile1289Val)	LAMC1 (I1289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117689	NM_002293.4(LAMC1):c.376G>C (p.Gly126Arg)	LAMC1 (G126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117688	NM_002293.4(LAMC1):c.3716C>A (p.Ala1239Glu)	LAMC1 (A1239E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117687	NM_002293.4(LAMC1):c.3490G>C (p.Val1164Leu)	LAMC1 (V1164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117686	NM_002293.4(LAMC1):c.3469G>A (p.Val1157Ile)	LAMC1 (V1157I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117685	NM_002293.4(LAMC1):c.3460A>G (p.Lys1154Glu)	LAMC1 (K1154E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117684	NM_002293.4(LAMC1):c.3427C>T (p.Arg1143Trp)	LAMC1 (R1143W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117683	NM_002293.4(LAMC1):c.3400G>C (p.Ala1134Pro)	LAMC1 (A1134P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117682	NM_002293.4(LAMC1):c.3221G>C (p.Arg1074Thr)	LAMC1 (R1074T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117681	NM_002293.4(LAMC1):c.308C>T (p.Ala103Val)	LAMC1 (A103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117680	NM_002293.4(LAMC1):c.3011G>A (p.Arg1004Lys)	LAMC1 (R1004K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117679	NM_002293.4(LAMC1):c.2960C>T (p.Pro987Leu)	LAMC1 (P987L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117677	NM_002293.4(LAMC1):c.2701G>A (p.Val901Met)	LAMC1 (V901M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117676	NM_002293.4(LAMC1):c.2561A>G (p.Tyr854Cys)	LAMC1 (Y854C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117675	NM_002293.4(LAMC1):c.2409A>T (p.Arg803Ser)	LAMC1 (R803S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117674	NM_002293.4(LAMC1):c.220G>C (p.Glu74Gln)	LAMC1 (E74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117673	NM_002293.4(LAMC1):c.190G>C (p.Val64Leu)	LAMC1 (V64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117672	NM_002293.4(LAMC1):c.1828G>A (p.Ala610Thr)	LAMC1 (A610T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117670	NM_002293.4(LAMC1):c.1813T>C (p.Ser605Pro)	LAMC1 (S605P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117669	NM_002293.4(LAMC1):c.1579C>T (p.Arg527Cys)	LAMC1 (R527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117668	NM_002293.4(LAMC1):c.1559A>C (p.Gln520Pro)	LAMC1 (Q520P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117667	NM_002293.4(LAMC1):c.1403A>G (p.Asn468Ser)	LAMC1 (N468S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117666	NM_002293.4(LAMC1):c.1345C>G (p.Pro449Ala)	LAMC1 (P449A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117665	NM_002293.4(LAMC1):c.1310T>G (p.Leu437Arg)	LAMC1 (L437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067338	NM_002293.4(LAMC1):c.2476C>T (p.Arg826Cys)	LAMC1 (R826C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3057464	NM_002293.4(LAMC1):c.2226C>T (p.Cys742=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 3053396	NM_002293.4(LAMC1):c.795C>T (p.Asn265=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 3050450	NM_002293.4(LAMC1):c.2190C>T (p.Ser730=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 3048970	NM_002293.4(LAMC1):c.507C>T (p.Asp169=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 3047446	NM_002293.4(LAMC1):c.1580G>T (p.Arg527Leu)	LAMC1 (R527L)	Single nucleotide variant (missense variant)	LAMC1-related disorder	GLikely benign
Select item 3046925	NM_002293.4(LAMC1):c.3407C>T (p.Ala1136Val)	LAMC1 (A1136V)	Single nucleotide variant (missense variant)	LAMC1-related disorder	GLikely benign
Select item 3044661	NM_002293.4(LAMC1):c.3280+4C>T	LAMC1	Single nucleotide variant (intron variant)	LAMC1-related disorder	GLikely benign
Select item 3044573	NM_002293.4(LAMC1):c.3459G>A (p.Glu1153=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 3043872	NM_002293.4(LAMC1):c.3018C>G (p.Gly1006=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 3042145	NM_002293.4(LAMC1):c.923A>G (p.Lys308Arg)	LAMC1 (K308R)	Single nucleotide variant (missense variant)	LAMC1-related disorder	GLikely benign
Select item 3040748	NM_002293.4(LAMC1):c.3144G>A (p.Lys1048=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 3039717	NM_002293.4(LAMC1):c.*3T>A	LAMC1	Single nucleotide variant (3 prime UTR variant)	LAMC1-related disorder	GLikely benign
Select item 3039236	NM_002293.4(LAMC1):c.*5T>A	LAMC1	Single nucleotide variant (3 prime UTR variant)	LAMC1-related disorder	GLikely benign
Select item 3038974	NM_002293.4(LAMC1):c.4797C>T (p.Gly1599=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GBenign
Select item 3038493	NM_002293.4(LAMC1):c.4248G>C (p.Ala1416=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 3038106	NM_002293.4(LAMC1):c.3009C>T (p.Cys1003=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 3035424	NM_002293.4(LAMC1):c.873C>T (p.His291=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 3034608	NM_002293.4(LAMC1):c.2213-5A>C	LAMC1	Single nucleotide variant (intron variant)	LAMC1-related disorder	GLikely benign
Select item 3033833	NM_002293.4(LAMC1):c.2700C>T (p.Pro900=)	LAMC1	Single nucleotide variant (synonymous variant)	LAMC1-related disorder	GLikely benign
Select item 2639626	NM_002293.4(LAMC1):c.3051A>C (p.Glu1017Asp)	LAMC1 (E1017D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639625	NM_002293.4(LAMC1):c.2944+6G>A	LAMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2639624	NM_002293.4(LAMC1):c.2553G>A (p.Lys851=)	LAMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639623	NM_002293.4(LAMC1):c.2292A>G (p.Ala764=)	LAMC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617612	NM_002293.4(LAMC1):c.584G>A (p.Arg195Lys)	LAMC1 (R195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615194	NM_002293.4(LAMC1):c.3222A>T (p.Arg1074Ser)	LAMC1 (R1074S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609493	NM_002293.4(LAMC1):c.2305G>A (p.Asp769Asn)	LAMC1 (D769N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601611	NM_002293.4(LAMC1):c.4498G>A (p.Glu1500Lys)	LAMC1, LAMC1-AS1 (E1500K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592011	NM_002293.4(LAMC1):c.3884A>C (p.Asn1295Thr)	LAMC1 (N1295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590405	NM_002293.4(LAMC1):c.4247C>T (p.Ala1416Val)	LAMC1 (A1416V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565992	NM_002293.4(LAMC1):c.2710C>G (p.Gln904Glu)	LAMC1 (Q904E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563843	NM_002293.4(LAMC1):c.1294C>T (p.Pro432Ser)	LAMC1 (P432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555969	NM_002293.4(LAMC1):c.799C>T (p.Pro267Ser)	LAMC1 (P267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546653	NM_002293.4(LAMC1):c.4072G>C (p.Asp1358His)	LAMC1 (D1358H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539263	NM_002293.4(LAMC1):c.4134C>G (p.Asn1378Lys)	LAMC1 (N1378K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535954	NM_002293.4(LAMC1):c.88G>T (p.Ala30Ser)	LAMC1 (A30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534228	NM_002293.4(LAMC1):c.392G>A (p.Ser131Asn)	LAMC1 (S131N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534227	NM_002293.4(LAMC1):c.139C>G (p.Pro47Ala)	LAMC1 (P47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525413	NM_002293.4(LAMC1):c.1615G>C (p.Glu539Gln)	LAMC1 (E539Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525006	NM_002293.4(LAMC1):c.1970G>A (p.Arg657His)	LAMC1 (R657H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511402	NM_002293.4(LAMC1):c.4331A>C (p.Lys1444Thr)	LAMC1 (K1444T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489383	NM_002293.4(LAMC1):c.2146G>C (p.Gly716Arg)	LAMC1 (G716R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480091	NM_002293.4(LAMC1):c.232G>A (p.Val78Met)	LAMC1 (V78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468993	NM_002293.4(LAMC1):c.3031C>T (p.Arg1011Cys)	LAMC1 (R1011C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461643	NM_002293.4(LAMC1):c.2381A>G (p.Asn794Ser)	LAMC1 (N794S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459887	NM_002293.4(LAMC1):c.4022G>A (p.Arg1341Gln)	LAMC1 (R1341Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458021	NM_002293.4(LAMC1):c.2761C>G (p.Pro921Ala)	LAMC1 (P921A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404235	NM_002293.4(LAMC1):c.4531A>G (p.Thr1511Ala)	LAMC1, LAMC1-AS1 (T1511A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402611	NM_002293.4(LAMC1):c.1552A>G (p.Thr518Ala)	LAMC1 (T518A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397582	NM_002293.4(LAMC1):c.757C>G (p.Leu253Val)	LAMC1 (L253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390305	NM_002293.4(LAMC1):c.3146T>C (p.Leu1049Pro)	LAMC1 (L1049P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386184	NM_002293.4(LAMC1):c.572G>A (p.Arg191His)	LAMC1 (R191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360930	NM_002293.4(LAMC1):c.2579A>G (p.Tyr860Cys)	LAMC1 (Y860C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360073	NM_002293.4(LAMC1):c.621T>G (p.Asp207Glu)	LAMC1 (D207E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359893	NM_002293.4(LAMC1):c.2339G>C (p.Ser780Thr)	LAMC1 (S780T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358120	NM_002293.4(LAMC1):c.3288C>G (p.Asp1096Glu)	LAMC1 (D1096E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357500	NM_002293.4(LAMC1):c.2672C>T (p.Thr891Ile)	LAMC1 (T891I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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