Unique variants in the LAMA2 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_000426.3 transcript reference sequence.

745 entries on 8 pages. Showing entries 1 - 100.
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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     
+/. 2 3i_4i del ex4 r.? p.? - pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del g.(129059897_129098172)_(129098416_129143900)del del ex4 - LAMA2_000454 - PubMed: Wang 2019 - - Germline - 2/70 cases - - - Johan den Dunnen
?/., ?/? 2 1 c.-17del r.(?) p.(=) ACMG VUS g.129204374del g.128883229del - - LAMA2_000314 - from website {DBsub-Emory}, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Madhuri Hegde, Jorge Oliveira
+/. 1 1i c.(112+1_113-1)? r.[112_113ins112+1_112+75{?}] p.(fs*) - pathogenic (recessive) g.(129204503_129371062)? - 162ins75 - LAMA2_000006 - PubMed: Hayashi 1997 - - Germline - - - - - Johan den Dunnen
+/. 1 35i c.(5071+1_5072-1)ins(?) r.5071_5072ins(?) p.fs* - pathogenic (recessive) g.(129704379_129712635)[ins?] - - - LAMA2_000411 mouse model; 6.1 Kb insertion (290 bp insertion intracisternal A-particle gene LTR in mRNA) PubMed: Besse 2003 - - Germline - - - - - Johan den Dunnen
+/., ?/. 22 1, 55i, 58, _1_65_ c.? r.0, r.7750_7898del, r.8076_8244del, r.? p.0, p.?, p.Ala2584Hisfs*8, p.Pro2693_His2748delfs*12 - pathogenic (recessive), VUS g.? - 8124-8293del, r.7798-7947del - LAMA2_000000 allele not expressed, unknown chromosome, unknown variant, unknown variant 2nd chromosome, 2 more items PubMed: Geranmayeh 2010, PubMed: Hayashi 1995, PubMed: Hayashi 2001, PubMed: Pegoraro 1998, 4 more items - - Germline - 1/40 patients - - - Johan den Dunnen
+/+, +/., +?/. 6 1 c.2T>C r.(?), r.2u>c p.0? ACMG likely pathogenic (recessive), pathogenic (recessive) g.129204392T>C g.128883247T>C (Met1Thr), Met1Thr, T51C - LAMA2_000003 unknown variant 2nd chromosome PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Pegoraro 1998, PubMed: Hayashi 2001 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Tom Winder, Jorge Oliveira
-?/. 1 - c.13G>A r.(?) p.(Ala5Thr) - likely benign g.129204403G>A g.128883258G>A LAMA2(NM_000426.3):c.13G>A (p.(Ala5Thr)) - LAMA2_000576 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/., ?/? 2 1 c.32T>C r.(?) p.(Leu11Pro) ACMG VUS g.129204422T>C g.128883277T>C - - LAMA2_000482 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Jorge Oliveira
+/+, +/., ?/. 3 1 c.35T>G r.(?) p.(Leu12Arg) ACMG pathogenic (recessive), VUS g.129204425T>G g.128883280T>G - - LAMA2_000190 - PubMed: Løkken 2015, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Tom Winder, Jorge Oliveira
+/+, +?/. 2 1 c.47del r.(?) p.(Gly16Alafs*29) ACMG likely pathogenic (recessive), pathogenic (recessive) g.129204437del g.128883292del - - LAMA2_000230 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Tom Winder, Jorge Oliveira
+/. 1 - c.54_64del r.(?) p.(Gly19AlafsTer27) - pathogenic g.129204444_129204454del g.128883299_128883309del LAMA2(NM_000426.3):c.54_64delGGGCGTACAGG (p.G19Afs*27) - LAMA2_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 1 c.67_71del r.(?) p.(Gln23Alafs*25) ACMG pathogenic (recessive) g.129204457_129204461del g.128883312_128883316del - - LAMA2_000539 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
-?/. 1 - c.74C>T r.(?) p.(Pro25Leu) - likely benign g.129204464C>T g.128883319C>T LAMA2(NM_000426.3):c.74C>T (p.(Pro25Leu)) - LAMA2_000578 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+, +/. 2 1 c.82C>T r.(?), r.82c>u p.(Gln28*), p.Gln28* ACMG pathogenic (recessive) g.129204472C>T g.128883327C>T C131T - LAMA2_000004 unknown variant 2nd chromosome PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Pegoraro 1998 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
+/., +?/+?, +?/. 3 1 c.94C>T r.(?) p.(Gln32*), p.(Gln32Ter) ACMG likely pathogenic (recessive), pathogenic g.129204484C>T g.128883339C>T - - LAMA2_000205 VKGL data sharing initiative Nederland PubMed: Oliveira 2018, Journal: Oliveira 2018 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - Tom Winder, Jorge Oliveira, VKGL-NL_Nijmegen
?/., ?/? 2 1 c.112G>A r.(?)^r.(spl?), r.spl? p.(Gly38Ser), p.(Gly38Ser)^p.? ACMG VUS g.129204502G>A g.128883357G>A - - LAMA2_000309 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Tom Winder, Jorge Oliveira
?/? 1 1 c.112G>T r.spl? p.(Gly38Cys) ACMG VUS g.129204502G>T g.128883357G>T - - LAMA2_000540 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+/+, +/., ?/. 4 1i c.112+1G>A r.spl, r.spl? p.? ACMG pathogenic (recessive), VUS g.129204503G>A g.128883358G>A - - LAMA2_000260 - from website {DBsub-Emory}, PubMed: Geranmayeh 2010, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Madhuri Hegde, Jorge Oliveira, Vikki Stefans
+/+, +/. 2 1i c.112+3A>G r.(spl?), r.spl? p.? ACMG pathogenic (recessive) g.129204505A>G g.128883360A>G 161+3A>G - LAMA2_000084 unknown variant 2nd chromosome PubMed: Allamand 2002, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
+?/. 1 - c.112+43141C>G - - - likely pathogenic (dominant) g.129247643C>G g.129528800C>G RHO CCC to GCC, Pro23Ala - RHO_000274 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Oh 2000 - - Germline yes - - - - LOVD
+?/. 1 - c.112+43247C>G - - - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO T58R - RHO_000130 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - LOVD
+?/. 1 - c.112+45258C>T - - - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO R135W - RHO_000001 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - LOVD
+?/. 1 - c.112+47114G>T r.(=) p.(=) - likely pathogenic (dominant) g.129251616G>T g.129532773G>T guanosine 4335-to thymidine, GT to TT at the donor splice junction of intron 7 - RHO_000144 heterozygous PubMed: Macke_1993 - - Germline yes - - - - LOVD
+/+, +/. 3 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.(del?), r.spl p.(fs*?), p.? ACMG pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 - PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Xiong 2014 - - Germline, SUMMARY record - - - - - Jorge Oliveira
?/., ?/? 2 2 c.149C>T r.(?) p.(Ala50Val) ACMG VUS g.129371099C>T g.129049954C>T - - LAMA2_000541 VKGL data sharing initiative Nederland PubMed: Oliveira 2018, Journal: Oliveira 2018 - - CLASSIFICATION record, SUMMARY record - - - - - Jorge Oliveira, VKGL-NL_Nijmegen
-/-, -/. 6 2 c.156C>T r.(?) p.(=), p.(Ile52=) ACMG benign g.129371106C>T g.129049961C>T I521I, LAMA2(NM_000426.3):c.156C>T (p.I52=) - LAMA2_000153 VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Di Blasi 2005, PubMed: Oliveira 2018, Journal: Oliveira 2018 - rs1140366 CLASSIFICATION record, Germline, SUMMARY record - 0.19 - - - Johan den Dunnen, Rosário dos Santos, Madhuri Hegde, Jorge Oliveira, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., +?/+?, +?/. 3 2 c.164del r.(?) p.(Asn55Metfs*16) ACMG likely pathogenic (recessive), pathogenic g.129371114del g.129049969del c.164delA - LAMA2_000232 ACMG PVS1, PM2, PP3, unknown variant 2nd chromosome PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Özyilmaz 2019 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Tom Winder, Jorge Oliveira
?/. 1 2 c.176G>A r.(?) p.(Gly59Glu) - VUS g.129371126G>A g.129049981G>A - - LAMA2_000709 - PubMed: Ganapathy 2019 - rs748303070 Germline - - - - - Johan den Dunnen
+/., +?/+?, ?/. 3 2 c.184G>T r.(?) p.(Gly62*) ACMG likely pathogenic (recessive), pathogenic (recessive), VUS g.129371134G>T g.129049989G>T - - LAMA2_000315 1 heterozygous, no homozygous; Clinindb (India) from website {DBsub-Emory}, PubMed: Narang 2020, Journal: Narang 2020, 1 more item - rs398123368 Germline, SUMMARY record - 1/2795 individuals - - - Madhuri Hegde, Jorge Oliveira, Mohammed Faruq
?/. 1 - c.236G>A r.(?) p.(Arg79Lys) - VUS g.129371186G>A - - - LAMA2_000726 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., ?/? 2 2 c.245A>T r.(?) p.(Gln82Leu) ACMG VUS g.129371195A>T g.129050050A>T - - LAMA2_000491 PolyPhen-2 score 0.99 (probably pathogenic) PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record ? - - - - Jorge Oliveira, Andreas Laner
+/+, +/. 2 2 c.(247T>C) r.(247u>c), r.(?) p.(Cys83Arg), p.Cys83Arg ACMG pathogenic (recessive) g.129371197T>C g.129050052T>C - - LAMA2_000413 animal model PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Patton 2008 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
+/. 1 2 c.250C>T r.(?) p.(Arg84Ter) - pathogenic g.129371200C>T g.129050055C>T - - LAMA2_000710 - PubMed: Ganapathy 2019 - rs868019991 Germline - - - - - Johan den Dunnen
-/., -?/-?, -?/. 3 2 c.255C>T r.(?) p.(=), p.(Ile85=) ACMG benign, likely benign g.129371205C>T g.129050060C>T LAMA2(NM_000426.3):c.255C>T (p.I85=) - LAMA2_000497 VKGL data sharing initiative Nederland PubMed: Oliveira 2018, Journal: Oliveira 2018 - - CLASSIFICATION record, SUMMARY record - - - - - Jorge Oliveira, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/., ?/? 2 2 c.257G>A r.(?) p.(Cys86Tyr) ACMG VUS g.129371207G>A g.129050062G>A - - LAMA2_000007 - Subm. FMuntoni, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
?/., ?/? 2 2 c.277C>A r.(?) p.(Pro93Thr) ACMG VUS g.129371227C>A g.129050082C>A - - LAMA2_000542 VKGL data sharing initiative Nederland PubMed: Oliveira 2018, Journal: Oliveira 2018 - - CLASSIFICATION record, SUMMARY record - - - - - Jorge Oliveira, VKGL-NL_Nijmegen
+/+, +/. 4 2 c.283C>T r.(?), r.283c>u p.(Gln95*), p.Gln95* ACMG pathogenic (recessive) g.129371233C>T g.129050088C>T - - LAMA2_000136 - PubMed: Di Blasi 2005, PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Xiong 2014 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
+/+, +/. 5 2i c.(283+1G>A), c.283+1G>A r.spl, r.spl? p.(Val78_Gln132del), p.? ACMG NA, pathogenic (recessive) g.129371234G>A g.129050089G>A - - LAMA2_000000, LAMA2_000261 - PubMed: Geranmayeh 2010, PubMed: Hu 1994, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, In vitro (cloned), SUMMARY record - - - - - Johan den Dunnen, Tom Winder, Jorge Oliveira
+/+, +/. 3 2i c.283+1G>C r.spl, r.spl? p.? ACMG pathogenic (recessive) g.129371234G>C g.129050089G>C - - LAMA2_000473 - PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Xiong 2014 - - Germline, SUMMARY record - - - - - Jorge Oliveira
+?/+?, +?/. 2 2i c.283+2del r.spl, r.spl? p.? ACMG likely pathogenic (recessive) g.129371235del g.129050090del - - LAMA2_000073 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Tom Winder, Jorge Oliveira
+?/+?, +?/. 2 2i_3i c.284-4685_397-148delinsA r.(284_396del) p.(fs*), p.(fs*?) ACMG likely pathogenic (recessive) g.129376244_129419170delinsA g.129055099_129098025delinsA c.284-4685_397-146delinsATA - LAMA2_000402 - PubMed: Oliveira 2014 - - Germline, SUMMARY record - - - - - Jorge Oliveira
-/-, -/. 2 2i c.284-131C>T r.(=), r.(?) p.(=) ACMG benign g.129380798C>T g.129059653C>T - - LAMA2_000154 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - rs10499148 Germline, SUMMARY record - 0.11 - - - Rosário dos Santos, Jorge Oliveira
-?/-?, ?/. 2 2i c.284-86_284-85insG r.(=), r.(?) p.(=) ACMG likely benign, VUS g.129380843_129380844insG g.129059698_129059699insG - - LAMA2_000382 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - rs143205326 Germline, SUMMARY record - - - - - Jorge Oliveira, Andreas Laner
-?/-?, -?/. 2 2i c.284-85A>G r.(=), r.(?) p.(=) ACMG likely benign g.129380844A>G g.129059699A>G - - LAMA2_000383 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - rs74936600 Germline, SUMMARY record - gnomAD: MAF 0.28 - - - Jorge Oliveira, Andreas Laner
-/-, -/. 2 2i c.284-85delinsGG r.(=), r.(?) p.(=) ACMG benign g.129380844delinsGG g.129059699delinsGG - - LAMA2_000155 - PubMed: Oliveira 2008, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - 5/50 - - - Rosário dos Santos, Jorge Oliveira
+/+, +/. 2 2i_4i c.(283+1_284-1)_(639+1_640-1)del r.(del), r.spl p.? ACMG pathogenic (recessive) g.(129371234_129380928)_(129419561_129465045)del - - - LAMA2_000478 - PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Xiong 2014 - - Germline, SUMMARY record - - - - - Jorge Oliveira
+/+, +/. 2 2i_10i c.(283+1_284-1)_(1306+1_1307-1)del r.(del?), r.spl p.(fs*?), p.? ACMG pathogenic (recessive) g.(129371234_129380928)_(129486821_129498850)del - - - LAMA2_000396 - PubMed: Oliveira 2014, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Jorge Oliveira
+?/. 1 3 c.287_288del r.(?) p.(Arg96ThrfsTer8) - likely pathogenic g.129380932_129380933del g.129059787_129059788del c.286_287delAG - LAMA2_000711 - 0 - - Germline - - - - - LOVD
-?/. 1 - c.306T>A r.(?) p.(Ala102=) - likely benign g.129380951T>A g.129059806T>A - - LAMA2_000625 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/. 2 3 c.327G>A r.(?) p.(Trp109*), p.(Trp109Ter) ACMG pathogenic, pathogenic (recessive) g.129380972G>A g.129059827G>A - - LAMA2_000543 VKGL data sharing initiative Nederland PubMed: Oliveira 2018, Journal: Oliveira 2018 - - CLASSIFICATION record, SUMMARY record - - - - - Jorge Oliveira, VKGL-NL_Nijmegen
+/+, +/. 2 3 c.329G>A r.(?) p.(Trp110*) ACMG pathogenic (recessive) g.129380974G>A g.129059829G>A - - LAMA2_000463 - PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Xiong 2014 - - Germline, SUMMARY record - - - - - Jorge Oliveira
+/+, +/. 6 3 c.363C>A r.(?) p.(Tyr121*) ACMG pathogenic (recessive) g.129381008C>A g.129059863C>A - - LAMA2_000152 - PubMed: Oliveira 2008, PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Xiong 2014 - - Germline, SUMMARY record - - - - - Rosário dos Santos, Tom Winder, Jorge Oliveira
+/+, +/. 2 3 c.363C>G r.(?) p.(Tyr121*) ACMG pathogenic (recessive) g.129381008C>G g.129059863C>G - - LAMA2_000447 - PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Xiong 2014 - - Germline, SUMMARY record - - - - - Jorge Oliveira
-/-, -/. 8 3 c.381C>A r.(=), r.(?), r.381c>a p.(=), p.(Thr127=), p.= ACMG benign g.129381026C>A g.129059881C>A 430A>C (error), LAMA2(NM_000426.3):c.381C>A (p.T127=) - LAMA2_000110 DNA analyzed by exon sequencing at Prevention Genetics, VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Tezak 2003 - rs4404787 CLASSIFICATION record, Germline, SUMMARY record - 0.02 - - - Johan den Dunnen, Madhuri Hegde, Jeffrey Miller, Jorge Oliveira, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/+, +/. 3 3 c.391C>T r.(?) p.(Gln131*) ACMG pathogenic (recessive) g.129381036C>T g.129059891C>T - - LAMA2_000262 - PubMed: Chan 2014, PubMed: Geranmayeh 2010, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
+?/+?, +?/. 2 3i c.396+1G>A r.spl, r.spl? p.? ACMG likely pathogenic (recessive) g.129381042G>A g.129059897G>A - - LAMA2_000384 segregation analysis confirmed second pathogenic variant c.8586T>G transmitted from the father PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Jorge Oliveira, Andreas Laner
+/+, +?/. 6 3i c.396+1G>T r.spl, r.spl? p.? ACMG likely pathogenic (recessive), pathogenic (recessive) g.129381042G>T g.129059897G>T - - LAMA2_000210 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Tom Winder, Jorge Oliveira, Angela Gruber
-/-, -/. 2 3i c.397-15G>A r.(?) p.(=) ACMG benign g.129419303G>A g.129098158G>A - - LAMA2_000316 - from website {DBsub-Emory}, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Madhuri Hegde, Jorge Oliveira
+/+, +/. 3 3i_4 c.397-13_398del r.(?) p.(Val133Argfs*5) ACMG pathogenic (recessive) g.129419305_129419319del g.129098160_129098174del 397-1_397-15del - LAMA2_000294 not in 100 control chromosomes; reports r.397_403del but no AG splice acceptor? PubMed: Gavassini 2011, PubMed: Løkken 2015, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
?/., ?/? 2 3i c.397-6C>T r.(=), r.(?) p.(=) ACMG VUS g.129419312C>T g.129098167C>T LAMA2(NM_000426.3):c.397-6C>T (p.(=)) - LAMA2_000498 VKGL data sharing initiative Nederland PubMed: Oliveira 2018, Journal: Oliveira 2018 - - CLASSIFICATION record, SUMMARY record - - - - - Jorge Oliveira, VKGL-NL_Leiden
+/+, +/. 6 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.(del?), r.spl p.(del?), p.? ACMG pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del - - - LAMA2_000454 - PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Xiong 2014 - - Germline, SUMMARY record - - - - - Jorge Oliveira
+/. 1 3i_12i c.(396+1_397-1)_(1782+26207_1783-1)dup r.397_1782dup p.Val133_Lys594dup - pathogenic (recessive) g.(129381042_129419317)_(129540205_129571256)dup - g.129465182_129540205dup - LAMA2_000566 75 kb intragenic duplication ex4–12 PubMed: Giugliano 2018 - - Germline - - - - - Teresa Giugliano
?/. 1 - c.408C>G r.(?) p.(Ile136Met) - VUS g.129419329C>G g.129098184C>G - - LAMA2_000626 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.409G>A r.(?) p.(Ala137Thr) - VUS g.129419330G>A - LAMA2(NM_000426.3):c.409G>A (p.A137T) - LAMA2_000679 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/-?, -?/. 3 4 c.411G>A r.(?), r.411g>a p.(=), p.(Ala137=), p.= ACMG benign, likely benign g.129419332G>A g.129098187G>A 460G>A, LAMA2(NM_000426.3):c.411G>A (p.A137=) - LAMA2_000111 VKGL data sharing initiative Nederland PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Tezak 2003 - - CLASSIFICATION record, Germline, SUMMARY record - 0.02 - - - Johan den Dunnen, Jorge Oliveira, VKGL-NL_Rotterdam
+/+, +/. 2 4 c.412T>C r.(?) p.(Tyr138His) ACMG pathogenic (recessive) g.129419333T>C g.129098188T>C - - LAMA2_000193 not in 300 control chromosomes PubMed: Oliveira 2008, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Rosário dos Santos, Jorge Oliveira
+?/. 1 - c.426_434del r.(?) p.(Lys142_Ala144del) - likely pathogenic g.129419347_129419355del g.129098202_129098210del - - LAMA2_000688 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
?/., ?/? 2 4 c.437C>T r.(?) p.(Ser146Phe) ACMG VUS g.129419358C>T g.129098213C>T - - LAMA2_000278 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Tom Winder, Jorge Oliveira
?/. 1 - c.442C>G r.(?) p.(Arg148Gly) - VUS g.129419363C>G - - - LAMA2_000727 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/. 4 4 c.454T>G r.(?) p.(Trp152Gly) ACMG pathogenic (recessive) g.129419375T>G g.129098230T>G - - LAMA2_000295 not in 100 control chromosomes PubMed: Gavassini 2011, PubMed: Løkken 2015, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
+/+, +/. 2 4 c.470C>T r.(?) p.(Ser157Phe) ACMG pathogenic (recessive) g.129419391C>T g.129098246C>T - - LAMA2_000263 - PubMed: Geranmayeh 2010, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
?/. 1 - c.479A>T r.(?) p.(Asp160Val) - VUS g.129419400A>T g.129098255A>T - - LAMA2_000627 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/. 2 4 c.482_485dup r.(?) p.(Glu162Aspfs*2) ACMG pathogenic (recessive) g.129419403_129419406dup g.129098258_129098261dup - - LAMA2_000449 - PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Xiong 2014 - - Germline, SUMMARY record - - - - - Jorge Oliveira
+/+, +/. 2 4 c.497G>A r.(?) p.(Trp166*) ACMG pathogenic (recessive) g.129419418G>A g.129098273G>A - - LAMA2_000401 - PubMed: Oliveira 2014, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Jorge Oliveira
+/+, +/. 4 4 c.498G>A r.(?), r.498g>a p.(Trp166*), p.(Trp166Ter), p.Trp166* ACMG pathogenic, pathogenic (recessive) g.129419419G>A g.129098274G>A 547G>A, LAMA2(NM_000426.3):c.498G>A (p.W166*) - LAMA2_000008 VKGL data sharing initiative Nederland PubMed: Mendell 1998, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - Johan den Dunnen, Tom Winder, Jorge Oliveira, VKGL-NL_VUmc
+/+, +/. 3 4 c.500A>C r.(?) p.(Gln167Pro) ACMG pathogenic (recessive) g.129419421A>C g.129098276A>C - - LAMA2_000144 not in 200 control chromosomes PubMed: Di Blasi 2005, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
?/. 1 - c.521C>T r.(?) p.(Thr174Met) - VUS g.129419442C>T g.129098297C>T - - LAMA2_000628 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +?/. 2 4 c.524_534dup r.(?) p.(Leu179Serfs*3) ACMG likely pathogenic (recessive), pathogenic (recessive) g.129419445_129419455dup g.129098300_129098310dup 524_534dupAGTGCCTAACG - LAMA2_000377 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Jorge Oliveira, Vikki Stefans
+/. 1 - c.527G>A r.(?) p.(Cys176Tyr) - pathogenic g.129419448G>A - - - LAMA2_000700 - - - - CLASSIFICATION record - - - - - MobiDetails
?/. 1 - c.528C>G r.(?) p.(Cys176Trp) ACMG VUS g.129419449C>G - - - LAMA2_000678 ACMG grading: PM2,PP3,PP4 - - - Germline - - - - - Andreas Laner
?/., ?/? 2 4 c.533C>T r.(?) p.(Thr178Met) ACMG VUS g.129419454C>T g.129098309C>T - - LAMA2_000317 - from website {DBsub-Emory}, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Madhuri Hegde, Jorge Oliveira
?/., ?/? 2 4 c.553C>T r.(?) p.(Arg185Cys) ACMG VUS g.129419474C>T g.129098329C>T LAMA2(NM_000426.3):c.553C>T (p.R185C) - LAMA2_000499 VKGL data sharing initiative Nederland PubMed: Oliveira 2018, Journal: Oliveira 2018 - - CLASSIFICATION record, SUMMARY record - - - - - Jorge Oliveira, VKGL-NL_Groningen
?/., ?/? 2 4 c.595T>A r.(?) p.(Cys199Ser) ACMG VUS g.129419516T>A g.129098371T>A - - LAMA2_000438 - PubMed: Chan 2014, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Jorge Oliveira
+/+, +/. 2 4 c.609C>A r.(?) p.(Tyr203*), p.(Tyr203Ter) ACMG pathogenic, pathogenic (recessive) g.129419530C>A g.129098385C>A - - LAMA2_000544 VKGL data sharing initiative Nederland PubMed: Oliveira 2018, Journal: Oliveira 2018 - - CLASSIFICATION record, SUMMARY record - - - - - Jorge Oliveira, VKGL-NL_Nijmegen
+?/+?, +?/., ?/. 3 4 c.611C>T r.(?) p.(Ser204Phe) ACMG likely pathogenic (recessive), VUS g.129419532C>T g.129098387C>T - - LAMA2_000391 reduced laminin alpha 2 on skin biopsy, VKGL data sharing initiative Nederland PubMed: Harris 2017, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - Jorge Oliveira, Elizabeth Harris, VKGL-NL_Nijmegen
+/+, +/. 2 4 c.624del r.(?) p.(Leu209*) ACMG pathogenic (recessive) g.129419545del g.129098400del - - LAMA2_000425 - PubMed: Liang 2017, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Jorge Oliveira
+/+, +/. 2 4 c.628G>T r.(?), r.628g>u p.(Glu210*), p.Glu210* ACMG pathogenic (recessive) g.129419549G>T g.129098404G>T 677G>T - LAMA2_000009 unknown variant 2nd chromosome PubMed: Guicheney 1997, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
+?/+?, +?/. 2 4i c.639+2T>A r.spl, r.spl? p.? ACMG likely pathogenic (recessive) g.129419562T>A g.129098417T>A - - LAMA2_000274 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Tom Winder, Jorge Oliveira
-/-, -/. 2 4i c.640-26G>A r.(?) p.(=) ACMG benign g.129465020G>A g.129143875G>A - - LAMA2_000318 - from website {DBsub-Emory}, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Madhuri Hegde, Jorge Oliveira
-?/. 1 - c.640-4G>T r.spl? p.? - likely benign g.129465042G>T - LAMA2(NM_000426.3):c.640-4G>T (p.?) - LAMA2_000703 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+, +/. 2 4i c.640-1G>C r.spl, r.spl? p.? ACMG pathogenic (recessive) g.129465045G>C g.129143900G>C - - LAMA2_000467 - PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Xiong 2014 - - Germline, SUMMARY record - - - - - Jorge Oliveira
+/+, +/. 2 4i c.640-1G>T r.spl, r.spl? p.? ACMG pathogenic, pathogenic (recessive) g.129465045G>T g.129143900G>T - - LAMA2_000545 VKGL data sharing initiative Nederland PubMed: Oliveira 2018, Journal: Oliveira 2018 - - CLASSIFICATION record, SUMMARY record - - - - - Jorge Oliveira, VKGL-NL_Nijmegen
+/+, +/. 3 4i_5i c.(639+1_640-1)_(819+1_820-1)del r.(del), r.spl p.(del?), p.? ACMG pathogenic (recessive) g.(129419561_129465045)_(129465226_129468103)del - - - LAMA2_000434 - PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Yang 2015 - - Germline, SUMMARY record yes - - - - Jorge Oliveira
+/+, +/. 2 4i_12i c.(639+1_640-1)_(1782+1_1873-1)dup r.(dup?), r.spl p.(dup?), p.? ACMG pathogenic (recessive) g.(129419561_129465045)_(129513999_129571346)dup - g.(129503539_129507201)_(129573766_129593644)dup - LAMA2_000080 48.8 kb duplication (also described as dup ex5-10); unknown variant 2nd chromosome PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Piluso 2011 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
+/+, +/. 2 5 c.652_653del r.(?) p.(Leu218Asnfs*9) ACMG pathogenic (recessive) g.129465058_129465059del g.129143913_129143914del - - LAMA2_000419 - PubMed: Oliveira 2018, Journal: Oliveira 2018, PubMed: Valencia 2013 - - Germline, SUMMARY record - - - - - Jorge Oliveira
-/., ?/., ?/? 3 5 c.675C>T r.(?) p.(=), p.(Ala225=) ACMG benign, VUS g.129465081C>T g.129143936C>T LAMA2(NM_000426.3):c.675C>T (p.A225=) - LAMA2_000319 VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - Madhuri Hegde, Jorge Oliveira, VKGL-NL_Rotterdam
+/+, +/., ?/. 3 5 c.713C>A r.(?) p.(Ala238Asp) ACMG pathogenic (recessive), VUS g.129465119C>A g.129143974C>A - - LAMA2_000320 - from website {DBsub-Emory}, PubMed: Dean 2017, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Madhuri Hegde, Jorge Oliveira
+/+, +/. 3 5 c.728T>C r.(?) p.(Leu243Pro) ACMG pathogenic (recessive) g.129465134T>C g.129143989T>C - - LAMA2_000291 not in 100 control chromosomes PubMed: Gavassini 2011, PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Jorge Oliveira
?/., ?/? 2 5 c.745C>T r.(?) p.(Arg249Cys) ACMG VUS g.129465151C>T g.129144006C>T - - LAMA2_000211 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline, SUMMARY record - - - - - Tom Winder, Jorge Oliveira
-?/. 1 - c.747C>T r.(?) p.(Arg249=) - likely benign g.129465153C>T g.129144008C>T - - LAMA2_000629 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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