All variants in the LAMC2 gene

Information The variants shown are described using the NM_005562.2 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
Legend   How to query  

Effect     

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     
-?/. - c.? r.? P.? - likely benign g.? - 5¢UTR-183 G>A - NPHS2_000000 - PubMed: Hayashi 2004 - - Germline - 3/122 ARM patients and 1/56 controls - 0 - Julia Lopez
-?/. - c.? r.? P.? - likely benign g.? - 5¢UTR-89 A>G - NPHS2_000000 - PubMed: Hayashi 2004 - - Germline - 11/122 ARM patients and 8/56 controls - 0 - Julia Lopez
-?/. - c.? r.? p.(=) - likely benign g.? - IVS 23+14 T>G - NPHS2_000000 - PubMed: Hayashi 2004 - - Germline - 15/122 ARM patients and 9/56 controls - 0 - Julia Lopez
?/. - c.196G>A r.(?) p.(Glu66Lys) - VUS g.183177132G>A - LAMC2(NM_005562.2):c.196G>A (p.E66K) - LAMC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 0 c.269-64C>T r.(=) p.(=) - likely benign g.183184524C>T - IVS 2-64 C>T - LAMC2_000021 - PubMed: Hayashi 2004 - - Germline - 8/122 ARM patients and 6/56 controls - 0 - Julia Lopez
-?/. 0 c.269-57G>A r.(=) p.(=) - likely benign g.183184531G>A - IVS 2-57 G>A - LAMC2_000022 - PubMed: Hayashi 2004 - - Germline - 7/122 ARM patients and 4/56 controls - 0 - Julia Lopez
+/. - c.283C>T r.(?) p.(Arg95Ter) - pathogenic g.183184602C>T g.183215467C>T LAMC2(NM_005562.2):c.283C>T (p.R95*) - LAMC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.297C>T r.(?) p.(Ser99=) - benign g.183184616C>T g.183215481C>T LAMC2(NM_005562.2):c.297C>T (p.S99=) - LAMC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. 0 c.297C>T r.(=) p.(=) - likely benign g.183184616C>T - 297 C>T / S99S - LAMC2_000002 - PubMed: Hayashi 2004 - - Germline - 8/122 ARM patients and 6/56 controls - 0 - Julia Lopez
-/. - c.344G>A r.(?) p.(Arg115Gln) - benign g.183184663G>A g.183215528G>A LAMC2(NM_005562.2):c.344G>A (p.R115Q) - LAMC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.344G>A r.(?) p.(Arg115Gln) - likely benign g.183184663G>A g.183215528G>A - - LAMC2_000003 48 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17481405 Germline - 48/2795 individuals - 0 - Mohammed Faruq
-?/. 0 c.405-31T>C r.(=) p.(=) - likely benign g.183187494T>C - IVS 3-31 T>C - LAMC2_000023 - PubMed: Hayashi 2004 - - Germline - 16/126 ARM patients and 11/110 controls - 0 - Julia Lopez
-/. - c.483C>T r.(?) p.(Val161=) - benign g.183187603C>T g.183218468C>T LAMC2(NM_005562.2):c.483C>T (p.V161=) - LAMC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. 0 c.483C>T r.(=) p.(Arg165Cys) - likely benign g.183187603C>T - 483 C>T / V161V - LAMC2_000004 - PubMed: Hayashi 2004 - - Germline - 16/126 ARM patients and 11/110 controls - 0 - Julia Lopez
?/. - c.493C>T r.(?) p.(Arg165Cys) - VUS g.183187613C>T g.183218478C>T LAMC2(NM_005562.2):c.493C>T (p.R165C) - LAMC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. 0 c.493C>T r.(=) p.(=) - likely benign g.183187613C>T - 493 C>T / R165C - LAMC2_000005 - PubMed: Hayashi 2004 - - Germline - 0/126 ARM patients and 1/130 controls - 0 - Julia Lopez
+/. - c.508C>T r.(?) p.(Arg170Ter) - pathogenic g.183189964C>T - LAMC2(NM_005562.2):c.508C>T (p.R170*) - LAMC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.798T>G r.(?) p.(Gly266=) - benign g.183192304T>G g.183223169T>G LAMC2(NM_005562.2):c.798T>G (p.G266=) - LAMC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 0 c.798T>G r.(=) p.(=) - likely benign g.183192304T>G - 798 T>G / G266G - LAMC2_000013 - PubMed: Hayashi 2004 - - Germline - 14/122 ARM patients and 8/56 controls - 0 - Julia Lopez
-?/. 0 c.953+37A>G r.(=) p.(Tyr204Profs*8) - likely benign g.183192496A>G - IVS 7+37 A>G - LAMC2_000024 - PubMed: Hayashi 2004 - - Germline - 14/122 ARM patients and 8/56 controls - 0 - Julia Lopez
+/. - c.1067-1G>A r.spl? p.? - pathogenic g.183195832G>A - LAMC2(NM_005562.2):c.1067-1G>A - LAMC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 0 c.1469-57G>A r.(=) p.(=) - likely benign g.183197452G>A - IVS 10-57 G>A - LAMC2_000025 - PubMed: Hayashi 2004 - - Germline - 3/122 ARM patients and 0/56 controls - 0 - Julia Lopez
?/. - c.1510C>A r.(?) p.(Pro504Thr) - VUS g.183197550C>A g.183228415C>A LAMC2(NM_005562.2):c.1510C>A (p.P504T) - LAMC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1899G>C r.(?) p.(Leu633=) - likely benign g.183201363G>C g.183232228G>C LAMC2(NM_005562.2):c.1899G>C (p.L633=) - LAMC2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 0 c.1899G>C r.(=) p.(Ser733Thr) - likely benign g.183201363G>C - 1899 G>C / L633L - LAMC2_000014 - PubMed: Hayashi 2004 - - Germline - 1/120 ARM patients and 1/56 controls - 0 - Julia Lopez
-/. - c.2198G>C r.(?) p.(Ser733Thr) - benign g.183201970G>C g.183232835G>C LAMC2(NM_005562.2):c.2198G>C (p.S733T) - LAMC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. 0 c.2198G>C r.(=) p.(Pro808Ala) - likely benign g.183201970G>C - 2198 G>C / S733T - LAMC2_000006 - PubMed: Hayashi 2004 - - Germline - 11/130 ARM patients and 10/110 controls - 0 - Julia Lopez
-?/. 0 c.2396_2398del r.(=) p.(=) - likely benign g.183204805_183204807del - 2396 del 3 bp (AAG) / E799G, G800 del - LAMC2_000026 - PubMed: Hayashi 2004 - - Germline - 1/300 ARM patients and 0/286 controls - 0 - Julia Lopez
-?/. - c.2422C>G r.(?) p.(Pro808Ala) - likely benign g.183204831C>G g.183235696C>G LAMC2(NM_005562.2):c.2422C>G (p.P808A) - LAMC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. 0 c.2422C>G r.(=) p.(Arg894His) - likely benign g.183204831C>G - 2422 C>G / P808A - LAMC2_000007 - PubMed: Hayashi 2004 - - Germline - 8/300 ARM patients and 5/286 controls - 0 - Julia Lopez
-?/. 0 c.2457-55_2457-54del r.(=) p.(Glu799del) - likely benign g.183205540_183205541del - IVS 16-57 del 2 bp (aa) - LAMC2_000027 - PubMed: Hayashi 2004 - - Germline - 11/122 ARM patients and 5/54 controls - 0 - Julia Lopez
-?/. - c.2570G>C r.(?) p.(Arg857Pro) - likely benign g.183205708G>C g.183236573G>C LAMC2(NM_005562.2):c.2570G>C (p.R857P) - LAMC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. 0 c.2681G>A r.(=) p.(=) - likely benign g.183206566G>A - 2681 G>A / R894H - LAMC2_000028 - PubMed: Hayashi 2004 - - Germline - 1/310 ARM patients and 0/108 controls - 0 - Julia Lopez
-/. - c.2688G>A r.(?) p.(Gln896=) - benign g.183206573G>A g.183237438G>A LAMC2(NM_005562.2):c.2688G>A (p.Q896=) - LAMC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. 0 c.2688G>A r.(=) p.(=) - likely benign g.183206573G>A - 2688 G>A / Q896Q - LAMC2_000009 - PubMed: Hayashi 2004 - - Germline - 30/310 ARM patients and 15/108 controls - 0 - Julia Lopez
-?/. 0 c.2754+9T>C r.(=) p.(=) - likely benign g.183206648T>C - IVS 18+9 T>C - LAMC2_000029 - PubMed: Hayashi 2004 - - Germline - 1/310 ARM patients and 0/108 controls - 0 - Julia Lopez
-?/. 0 c.2754+12T>C r.(=) p.(=) - likely benign g.183206651T>C - IVS 18+12 T>C - LAMC2_000030 - PubMed: Hayashi 2004 - - Germline - 2/310 ARM patients and 0/108 controls - 0 - Julia Lopez
-?/. 0 c.2869+47T>C r.(=) p.(=) - likely benign g.183207603T>C - IVS 19+47 T>C - LAMC2_000031 - PubMed: Hayashi 2004 - - Germline - 15/122 ARM patients and 9/54 controls - 0 - Julia Lopez
+/. - c.2881C>T r.(?) p.(Gln961Ter) - pathogenic g.183208510C>T g.183239375C>T LAMC2(NM_005562.2):c.2881C>T (p.Q961*) - LAMC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 0 c.3070-89C>A r.(=) p.(=) - likely benign g.183209086C>A - IVS 20-89 C>A - LAMC2_000032 - PubMed: Hayashi 2004 - - Germline - 14/122 ARM patients and 6/56 controls - 0 - Julia Lopez
-?/. - c.3206C>T r.(?) p.(Thr1069Met) - likely benign g.183209311C>T g.183240176C>T LAMC2(NM_005562.2):c.3206C>T (p.T1069M) - LAMC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. 0 c.3328+25C>T r.(=) p.(=) - likely benign g.183209551C>T - IVS 22+25 C>T - LAMC2_000033 - PubMed: Hayashi 2004 - - Germline - 1/122 ARM patients and 0/54 controls - 0 - Julia Lopez
-?/. 0 c.3328+108G>A r.(=) p.(=) - likely benign g.183209634G>A - IVS 22+108 G>A - LAMC2_000034 - PubMed: Hayashi 2004 - - Germline - 1/122 ARM patients and 0/54 controls - 0 - Julia Lopez
-?/. 0 c.3328+140C>T r.(=) p.(=) - likely benign g.183209666C>T - IVS 22+140 C>T - LAMC2_000035 - PubMed: Hayashi 2004 - - Germline - 1/122 ARM patients and 0/54 controls - 0 - Julia Lopez
?/. - c.3448C>T r.(?) p.(Arg1150Cys) - VUS g.183212401C>T g.183243266C>T LAMC2(NM_005562.2):c.3448C>T (p.R1150C) - LAMC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3459G>A r.(?) p.(Arg1153=) - likely benign g.183212412G>A g.183243277G>A LAMC2(NM_005562.2):c.3459G>A (p.R1153=) - LAMC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3459G>A r.(?) p.(Arg1153=) - likely benign g.183212412G>A g.183243277G>A LAMC2(NM_005562.2):c.3459G>A (p.R1153=) - LAMC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*13T>G r.(=) p.(=) - benign g.183212548T>G g.183243413T>G LAMC2(NM_005562.2):c.*13T>G - LAMC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
Legend   How to query