Unique variants in the LAMC1 gene

Information The variants shown are described using the NM_002293.3 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.? r.? P.? - likely benign g.? - IVS 3 + 76 C>T - NPHS2_000000 - PubMed: Hayashi 2004 - - Germline - 27/122 ARM patients and 17/62 controls - - - Julia Lopez
?/. 1 - c.220G>A r.(?) p.(Glu74Lys) - VUS g.182993071G>A g.183023936G>A LAMC1(NM_002293.3):c.220G>A (p.E74K) - LAMC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.418+8G>A r.(=) p.(=) - likely benign g.182993277G>A g.183024142G>A LAMC1(NM_002293.3):c.418+8G>A - LAMC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.467G>A r.(?) p.(Arg156His) - VUS g.183072511G>A g.183103376G>A LAMC1(NM_002293.3):c.467G>A (p.R156H) - LAMC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 2 c.546T>C r.(=) p.(=) - likely benign g.183072590T>C - 546 T>C / C182C - LAMC1_000037 - PubMed: Hayashi 2004 - - Germline - 9/122 ARM patients and 3/54 controls - - - Julia Lopez
-?/. 1 2 c.657C>T r.(=) p.(=) - likely benign g.183072701C>T - 657 C>T / N219N - LAMC1_000038 - PubMed: Hayashi 2004 - - Germline - 12/122 ARM patients and 5/54 controls - - - Julia Lopez
-?/. 1 2 c.690C>T r.(=) p.(=) - likely benign g.183072734C>T - 690 C>T / S230S - LAMC1_000039 - PubMed: Hayashi 2004 - - Germline - 1/122 ARM patients and 1/54 controls - - - Julia Lopez
?/. 1 - c.707A>G r.(?) p.(Asn236Ser) - VUS g.183072751A>G - LAMC1(NM_002293.3):c.707A>G (p.N236S) - LAMC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 3i c.854+74C>T r.(=) p.(=) - likely benign g.183077615C>T - IVS 3 + 74 C>T - LAMC1_000040 - PubMed: Hayashi 2004 - - Germline - 27/122 ARM patients and 17/62 controls - - - Julia Lopez
?/. 1 - c.923A>G r.(?) p.(Lys308Arg) - VUS g.183079691A>G g.183110556A>G LAMC1(NM_002293.3):c.923A>G (p.K308R) - LAMC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.961C>T r.(?) p.(Pro321Ser) - VUS g.183079729C>T g.183110594C>T LAMC1(NM_002293.3):c.961C>T (p.P321S) - LAMC1_000028 VKGL data sharing initiative Nederland PubMed: Beck 2014 - rs142614579 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1207G>C r.(?) p.(Val403Leu) - VUS g.183083851G>C - LAMC1(NM_002293.3):c.1207G>C (p.V403L) - LAMC1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 5i c.1211-48A>G r.(=) p.(=) - likely benign g.183084607A>G - IVS 5 - 48 A>G - LAMC1_000041 - PubMed: Hayashi 2004 - - Germline - 25/120 ARM patients and 12/62 controls - - - Julia Lopez
-?/. 1 5i c.1211-47C>A r.(=) p.(=) - likely benign g.183084608C>A - IVS 5 - 47 C>A - LAMC1_000042 - PubMed: Hayashi 2004 - - Germline - 24/120 ARM patients and 11/62 controls - - - Julia Lopez
-?/. 1 6 c.1242C>A r.(=) p.(=) - likely benign g.183084686C>A - 1242 C>A / G414G - LAMC1_000043 - PubMed: Hayashi 2004 - - Germline - 1/120 ARM patients and 1/62 controls - - - Julia Lopez
+/. 1 - c.1427+1G>C r.spl p.? - pathogenic g.183085811G>C g.183116676G>C - - LAMC1_000035 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1427+8A>G r.(=) p.(=) - likely benign g.183085818A>G g.183116683A>G LAMC1(NM_002293.3):c.1427+8A>G - LAMC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1468C>T r.(?) p.(Arg490Trp) - likely benign g.183085942C>T g.183116807C>T LAMC1(NM_002293.3):c.1468C>T (p.R490W) - LAMC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1596T>G r.(?) p.(Asp532Glu) - benign g.183086486T>G g.183117351T>G LAMC1(NM_002293.3):c.1596T>G (p.D532E) - LAMC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1669C>T r.(?) p.(Arg557Trp) - benign g.183086559C>T g.183117424C>T LAMC1(NM_002293.3):c.1669C>T (p.R557W) - LAMC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1689A>G r.(?) p.(Ala563=) - likely benign g.183086670A>G g.183117535A>G LAMC1(NM_002293.3):c.1689A>G (p.A563=) - LAMC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1713G>A r.(?) p.(Leu571=) - likely benign g.183086694G>A g.183117559G>A LAMC1(NM_002293.3):c.1713G>A (p.L571=) - LAMC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1719T>C r.(?) p.(Tyr573=) - likely benign g.183086700T>C g.183117565T>C LAMC1(NM_002293.3):c.1719T>C (p.Y573=) - LAMC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 10 c.1776A>C r.(=) p.(=) - likely benign g.183086757A>C - 1776 A>C / A592A - LAMC1_000044 - PubMed: Hayashi 2004 - - Germline - 28/122 ARM patients and 16/62 controls - - - Julia Lopez
-?/., ?/. 2 - c.2173G>A r.(?) p.(Ala725Thr) - likely benign, VUS g.183091040G>A g.183121905G>A LAMC1(NM_002293.3):c.2173G>A (p.A725T) - LAMC1_000029 VKGL data sharing initiative Nederland PubMed: Beck 2014 - rs147401305 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2180A>G r.(?) p.(Asn727Ser) - VUS g.183091047A>G g.183121912A>G LAMC1(NM_002293.3):c.2180A>G (p.N727S) - LAMC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 13 c.2237C>T r.(?) p.(Thr746Met) - pathogenic g.183091222C>T g.183122087C>T - - LAMC1_000001 - - - - Germline - - - - - Benjamin Darbro
-?/. 1 - c.2402-4C>T r.spl? p.? - likely benign g.183093762C>T g.183124627C>T LAMC1(NM_002293.3):c.2402-4C>T - LAMC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2547C>T r.(?) p.(Cys849=) - likely benign g.183093911C>T g.183124776C>T LAMC1(NM_002293.3):c.2547C>T (p.C849=) - LAMC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2553G>A r.(?) p.(Lys851=) - likely benign g.183093917G>A g.183124782G>A LAMC1(NM_002293.3):c.2553G>A (p.K851=) - LAMC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2654A>G r.(?) p.(Asn885Ser) - likely benign g.183094538A>G - LAMC1(NM_002293.3):c.2654A>G (p.N885S) - LAMC1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 15 c.2663T>C r.(?) p.(Leu888Pro) - likely benign g.183094547T>C - 2663 T>C / L888P - LAMC1_000045 - PubMed: Hayashi 2004 - - Germline - 36/124 ARM patients and 29/110 controls - - - Julia Lopez
-?/. 1 - c.2761C>G r.(?) p.(Pro921Ala) - likely benign g.183094645C>G - LAMC1(NM_002293.3):c.2761C>G (p.P921A) - LAMC1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2944+6G>A r.(=) p.(=) - benign g.183095403G>A g.183126268G>A LAMC1(NM_002293.3):c.2944+6G>A - LAMC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 16i c.2944+80G>A r.(=) p.(=) - likely benign g.183095477G>A - IVS 16+80 G>A - LAMC1_000046 - PubMed: Hayashi 2004 - - Germline - 35/120 ARM patients and 19/60 controls - - - Julia Lopez
-?/. 1 16i c.2945-104_2945-103insATA r.(=) p.(=) - likely benign g.183096257_183096258insATA - IVS 16-105 ins 3 bp(AAT) - LAMC1_000047 - PubMed: Hayashi 2004 - - Germline - 1/122 ARM patients and 0/48 controls - - - Julia Lopez
-?/. 1 - c.3018C>G r.(?) p.(Gly1006=) - likely benign g.183096434C>G g.183127299C>G LAMC1(NM_002293.3):c.3018C>G (p.G1006=) - LAMC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3032G>A r.(?) p.(Arg1011His) - VUS g.183096448G>A g.183127313G>A LAMC1(NM_002293.3):c.3032G>A (p.R1011H) - LAMC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 17i c.3123+43T>C r.(=) p.(=) - likely benign g.183096582T>C - IVS 17+43 T>C - LAMC1_000048 - PubMed: Hayashi 2004 - - Germline - 1/122 ARM patients and 0/48 controls - - - Julia Lopez
-?/. 1 17i c.3123+95G>A r.(=) p.(=) - likely benign g.183096634G>A - IVS 17+95 G>A - LAMC1_000049 - PubMed: Hayashi 2004 - - Germline - 1/122 ARM patients and 0/48 controls - - - Julia Lopez
?/. 1 - c.3190G>A r.(?) p.(Glu1064Lys) - VUS g.183097795G>A g.183128660G>A LAMC1(NM_002293.3):c.3190G>A (p.E1064K) - LAMC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3361C>T r.(?) p.(Arg1121Trp) - VUS g.183099559C>T g.183130424C>T LAMC1(NM_002293.3):c.3361C>T (p.R1121W) - LAMC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 19 c.3362G>A r.(?) p.(Arg1121Gln) - likely benign g.183099560G>A - 3362 G>A / R1121Q - LAMC1_000050 - PubMed: Hayashi 2004 - - Germline - 5/126 ARM patients and 7/110 controls - - - Julia Lopez
-?/. 2 19 c.3459G>A r.(=), r.(?) p.(=), p.(Glu1153=) - likely benign g.183099657G>A g.183130522G>A 3459 G>A / E1153E, LAMC1(NM_002293.3):c.3459G>A (p.E1153=) - LAMC1_000015 VKGL data sharing initiative Nederland PubMed: Hayashi 2004 - - CLASSIFICATION record, Germline - 1/128 ARM patients and 0/110 controls - - - Julia Lopez, VKGL-NL_Rotterdam
-?/. 1 19 c.3480C>T r.(=) p.(=) - likely benign g.183099678C>T - 3480 C>T / A1160A - LAMC1_000051 - PubMed: Hayashi 2004 - - Germline - 21/128 ARM patients and 14/110 controls - - - Julia Lopez
-?/. 1 19i c.3486+17G>A r.(=) p.(=) - likely benign g.183099701G>A - IVS 19+17 G>A - LAMC1_000052 - PubMed: Hayashi 2004 - - Germline - 26/126 ARM patients and 21/110 controls - - - Julia Lopez
-?/. 1 20i c.3567-81_3567-79del r.(=) p.(=) - likely benign g.183101454_183101456del - IVS 20-94 del 3 bp (TAA) - LAMC1_000053 - PubMed: Hayashi 2004 - - Germline - 1/118 ARM patients and 1/54 controls - - - Julia Lopez
?/. 1 - c.3631G>A r.(?) p.(Ala1211Thr) - VUS g.183101599G>A g.183132464G>A LAMC1(NM_002293.3):c.3631G>A (p.A1211T) - LAMC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3636C>T r.(?) p.(Tyr1212=) - likely benign g.183101604C>T g.183132469C>T LAMC1(NM_002293.3):c.3636C>T (p.Y1212=) - LAMC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3780C>G r.(?) p.(Ala1260=) - likely benign g.183102616C>G g.183133481C>G LAMC1(NM_002293.3):c.3780C>G (p.A1260=) - LAMC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3796G>A r.(?) p.(Glu1266Lys) - likely benign g.183102632G>A g.183133497G>A LAMC1(NM_002293.3):c.3796G>A (p.E1266K) - LAMC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.3850-1G>A r.spl p.? - pathogenic g.183103794G>A g.183134659G>A - - LAMC1_000036 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 23i c.3999+61_3999+66del r.(=) p.(=) - likely benign g.183104005_183104010del - IVS 23+60 del 6 bp (GTCTGT) - LAMC1_000054 - PubMed: Hayashi 2004 - - Germline - 11/120 ARM patients and 5/54 controls - - - Julia Lopez
-?/. 1 25 c.4300A>G r.(?) p.(Ser1434Gly) - likely benign g.183105706A>G - 4300 A>G / S1434G - LAMC1_000055 - PubMed: Hayashi 2004 - - Germline - 3/124 ARM patients and 1/108 controls - - - Julia Lopez
-?/. 1 25i c.4314+50C>T r.(=) p.(=) - likely benign g.183105770C>T - IVS 25+50 C>T - LAMC1_000056 - PubMed: Hayashi 2004 - - Germline - 3/124 ARM patients and 1/108 controls - - - Julia Lopez
?/. 1 - c.4331A>C r.(?) p.(Lys1444Thr) - VUS g.183106820A>C g.183137685A>C LAMC1(NM_002293.3):c.4331A>C (p.K1444T) - LAMC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 26 c.4369C>T r.(=) p.(=) - likely benign g.183106858C>T - 4369 C>T / L1457L - LAMC1_000057 - PubMed: Hayashi 2004 - - Germline - 3/118 ARM patients and 1/54 controls - - - Julia Lopez
-?/. 1 26i c.4474-160_4474-156del r.(=) p.(=) - likely benign g.183109379_183109383del - IVS 26-171 del 5 bp (ACCAA) - LAMC1_000058 - PubMed: Hayashi 2004 - - Germline - 0/120 ARM patients and 2/56 controls - - - Julia Lopez
-?/. 1 - c.4573+4C>T r.spl? p.? - likely benign g.183109642C>T g.183140507C>T LAMC1(NM_002293.3):c.4573+4C>T - LAMC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4737C>T r.(?) p.(Ile1579=) - likely benign g.183111832C>T g.183142697C>T LAMC1(NM_002293.3):c.4737C>T (p.I1579=) - LAMC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 27 c.*2840_*2841del r.(=) p.(=) - likely benign g.183114765_183114766del - IVS 28+35 del 2 bp (AG) - LAMC1_000059 - PubMed: Hayashi 2004 - - Germline - 8/122 ARM patients and 6/54 controls - - - Julia Lopez
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