All transcript variants in gene LAMA2

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.

2008 entries on 21 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-17del - r.(?) p.(=) g.129204374del g.128883229del - - LAMA2_000314 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/? 1 c.-17del ACMG: 3 r.(?) p.(=) g.129204374del - - - LAMA2_000314 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. 1i c.(112+1_113-1)? - r.[112_113ins112+1_112+75{?}] p.(fs*) g.(129204503_129371062)? - 162ins75 - LAMA2_000006 - PubMed: Hayashi 1997 - - Germline - - - 0 - Johan den Dunnen
+/. 35i c.(5071+1_5072-1)ins(?) - r.5071_5072ins(?) p.fs* 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 - - - 0 - Johan den Dunnen
+/. 35i_65_ c.5072-1408_(*150133_*3105322)del - r.(?) p.(?) g.129711228_(129987625_132942814)del - - - LAMA2_000437 - PubMed: Ding 2016 - - Germline - - - 0 - Jorge Oliveira
+/. 35i_65_ c.5072-1408_(*150133_*3105322)del - r.(?) p.(?) g.129711228_(129987625_132942814)del - - - LAMA2_000437 - PubMed: Ding 2016 - - Germline - - - 0 - Jorge Oliveira
+/+ 35i_65_ c.5072-1408_(*150133_*3105322)del ACMG: 5 (recessive) r.(?) p.? g.129711228_(129987625_132942814)del - - - LAMA2_000437 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. 58 c.? - r.8076_8244del p.Pro2693_His2748delfs*12 g.? - 8124-8293del - LAMA2_000000 unknown variant 2nd chromosome PubMed: Pegoraro 1998 - - Germline - - - 0 - Johan den Dunnen
?/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 - - - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.? - r.0 p.0 g.? - - - LAMA2_000000 - PubMed: Hayashi 1995 - - Germline - 1/40 patients - 0 - Johan den Dunnen
+/. 1 c.? - r.0 p.0 g.? - - - LAMA2_000000 - PubMed: Hayashi 1995 - - Germline - 1/40 patients - 0 - Johan den Dunnen
+/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 - - - - Germline - - - 0 - Johan den Dunnen
+/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 - - - - Germline - - - 0 - Johan den Dunnen
+/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 - - - - Germline - - - 0 - Johan den Dunnen
?/. _1_65_ c.? - r.0 p.0 g.? - - - LAMA2_000000 allele not expressed PubMed: Tezak 2003, OMIM:var0010 - - Germline - - - 0 - Johan den Dunnen
+/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 - - - - Germline - - - 0 - Johan den Dunnen
+/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 - - - - Germline - - - 0 - Johan den Dunnen
?/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 - - - - Germline - - - 0 - Johan den Dunnen
?/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 - - - - Germline - - - 0 - Johan den Dunnen
+/. 55i c.? - r.7750_7898del p.Ala2584Hisfs*8 g.? - r.7798-7947del - LAMA2_000000 - PubMed: Hayashi 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 55i c.? - r.7750_7898del p.Ala2584Hisfs*8 g.? - r.7798-7947del - LAMA2_000000 - PubMed: Hayashi 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.? - r.0 p.0 g.? - - - LAMA2_000000 variant in promoter? PubMed: Pegoraro 1998, PubMed: Hayashi 2001 - - Germline - - - 0 - Johan den Dunnen
?/. _1_65_ c.? - r.0 p.0 g.? - - - LAMA2_000000 allele not expressed PubMed: Tezak 2003, OMIM:var0009 - - Germline - - - 0 - Johan den Dunnen
+/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - 0 - Johan den Dunnen
?/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 unknown chromosome PubMed: Geranmayeh 2010 - - Germline - - - 0 - Johan den Dunnen
+/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - 0 - Johan den Dunnen
?/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 unknown variant PubMed: Naom 2000, PubMed: Geranmayeh 2010 - - Germline - - - 0 - Johan den Dunnen
+/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - 0 - Johan den Dunnen
+/. _1_65_ c.? - r.? p.? g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.2T>C - r.2u>c p.0? g.129204392T>C g.128883247T>C T51C - LAMA2_000003 unknown variant 2nd chromosome PubMed: Pegoraro 1998, PubMed: Hayashi 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.2T>C - r.(?) p.0? g.129204392T>C g.128883247T>C - - LAMA2_000003 - - - - Germline - - - 0 - Tom Winder
+?/. 1 c.2T>C - r.(?) p.0? g.129204392T>C g.128883247T>C - - LAMA2_000003 - - - - Germline - - - 0 - Tom Winder
+?/. 1 c.2T>C - r.(?) p.0? g.129204392T>C g.128883247T>C (Met1Thr) - LAMA2_000003 - - - - Germline - - - 0 - Tom Winder
+/. 1 c.2T>C - r.(?) p.0? g.129204392T>C g.128883247T>C Met1Thr - LAMA2_000003 - - - - Germline - - - 0 - Tom Winder
+/+ 1 c.2T>C ACMG: 5 (recessive) r.(?) p.0? g.129204392T>C - - - LAMA2_000003 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
-?/. - c.13G>A likely benign r.(?) p.(Ala5Thr) g.129204403G>A - LAMA2(NM_000426.3):c.13G>A (p.(Ala5Thr)) - LAMA2_000576 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 c.32T>C - r.(?) p.(Leu11Pro) g.129204422T>C g.128883277T>C - - LAMA2_000482 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline - - - 0 - Jorge Oliveira
?/? 1 c.32T>C ACMG: 3 r.(?) p.(Leu11Pro) g.129204422T>C - - - LAMA2_000482 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
?/. 1 c.35T>G - r.(?) p.(Leu12Arg) g.129204425T>G g.128883280T>G - - LAMA2_000190 - - - - Germline - - - 0 - Tom Winder
+/. 1 c.35T>G - r.(?) p.(Leu12Arg) g.129204425T>G g.128883280T>G - - LAMA2_000190 - PubMed: Løkken 2015 - - Germline - - - 0 - Jorge Oliveira
+/+ 1 c.35T>G ACMG: 5 (recessive) r.(?) p.(Leu12Arg) g.129204425T>G - - - LAMA2_000190 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+?/. 1 c.47del - r.(?) p.(Gly16Alafs*29) g.129204437del g.128883292del - - LAMA2_000230 - - - - Germline - - - 0 - Tom Winder
+/+ 1 c.47del ACMG: 5 (recessive) r.(?) p.(Gly16Alafs*29) g.129204437del - - - LAMA2_000230 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. - c.54_64del pathogenic r.(?) p.(Gly19Alafs*27) g.129204444_129204454del - LAMA2(NM_000426.3):c.54_64delGGGCGTACAGG (p.G19Afs*27) - LAMA2_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 c.67_71del ACMG: 5 (recessive) r.(?) p.(Gln23Alafs*25) g.129204457_129204461del - - - LAMA2_000539 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. 1 c.82C>T - r.82c>u p.Gln28* g.129204472C>T g.128883327C>T C131T - LAMA2_000004 unknown variant 2nd chromosome PubMed: Pegoraro 1998 - - Germline - - - 0 - Johan den Dunnen
+/+ 1 c.82C>T ACMG: 5 (recessive) r.(?) p.(Gln28*) g.129204472C>T - - - LAMA2_000004 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+?/. 1 c.94C>T - r.(?) p.(Gln32*) g.129204484C>T g.128883339C>T - - LAMA2_000205 - - - - Germline - - - 0 - Tom Winder
+/. 1 c.94C>T pathogenic r.(?) p.(Gln32*) g.129204484C>T - - - LAMA2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/+? 1 c.94C>T ACMG: 4 (recessive) r.(?) p.(Gln32*) g.129204484C>T - - - LAMA2_000205 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
?/. 1 c.112G>A - r.(?)^r.(spl?) p.(Gly38Ser)^p.? g.129204502G>A g.128883357G>A - - LAMA2_000309 - - - - Germline - - - 0 - Tom Winder
?/? 1 c.112G>A ACMG: 3 r.spl? p.? g.129204502G>A - - - LAMA2_000309 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
?/? 1 c.112G>T ACMG: 3 r.spl? p.? g.129204502G>T - - - LAMA2_000540 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. 1i c.112+1G>A - r.spl? p.? g.129204503G>A g.128883358G>A - - LAMA2_000260 - PubMed: Geranmayeh 2010 - - Germline - - - 0 - Johan den Dunnen
?/. 1i c.112+1G>A - r.spl? p.? g.129204503G>A g.128883358G>A - - LAMA2_000260 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
+/. 1i c.112+1G>A - r.spl? p.? g.129204503G>A g.128883358G>A - - LAMA2_000260 - - - - Germline - - - 0 - Vikki Stefans
+/+ 1i c.112+1G>A ACMG: 5 (recessive) r.spl p.? g.129204503G>A - - - LAMA2_000260 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. 1i c.112+3A>G - r.(spl?) p.? g.129204505A>G g.128883360A>G 161+3A>G - LAMA2_000084 unknown variant 2nd chromosome PubMed: Allamand 2002 - - Germline - - - 0 - Johan den Dunnen
+/+ 1i c.112+3A>G ACMG: 5 (recessive) r.spl? p.? g.129204505A>G - - - LAMA2_000084 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del - r.(del?) p.(fs*?) g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 - PubMed: Xiong 2014 - - Germline - - - 0 - Jorge Oliveira
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del - r.(del?) p.(fs*?) g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 - PubMed: Xiong 2014 - - Germline - - - 0 - Jorge Oliveira
+/+ 1i_3i c.(112+1_113-1)_(396+1_397-1)del ACMG: 5 (recessive) r.spl p.? g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
?/. 2 c.149C>T VUS r.(?) p.(Ala50Val) g.129371099C>T - - - LAMA2_000541 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/? 2 c.149C>T ACMG: 3 r.(?) p.(Ala50Val) g.129371099C>T - - - LAMA2_000541 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
-/. 2 c.156C>T benign r.(?) p.(=) g.129371106C>T g.129049961C>T - - LAMA2_000153 - - - rs1140366 Germline - - - 0 - Rosário dos Santos
-/. 2 c.156C>T benign r.(?) p.(=) g.129371106C>T g.129049961C>T I521I - LAMA2_000153 - PubMed: Di Blasi 2005 - rs1140366 Germline - 0.19 - 0 - Johan den Dunnen
-/. 2 c.156C>T benign r.(?) p.(=) g.129371106C>T g.129049961C>T - - LAMA2_000153 - from website {DBsub-Emory} - rs1140366 Germline - - - 0 - Madhuri Hegde
-/. 2 c.156C>T benign r.(?) p.(=) g.129371106C>T - LAMA2(NM_000426.3):c.156C>T (p.I52=) - LAMA2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. 2 c.156C>T benign r.(?) p.(=) g.129371106C>T - LAMA2(NM_000426.3):c.156C>T (p.I52=) - LAMA2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 2 c.156C>T ACMG: 1 r.(?) p.(=) g.129371106C>T - - - LAMA2_000153 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+?/. 2 c.164del - r.(?) p.(Asn55Metfs*16) g.129371114del g.129049969del - - LAMA2_000232 unknown variant 2nd chromosome - - - Germline - - - 0 - Tom Winder
+?/+? 2 c.164del ACMG: 4 (recessive) r.(?) p.(Asn55Metfs*16) g.129371114del - - - LAMA2_000232 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. - c.164del ACMG: 5 r.(?) p.(Asn55Metfs*16) g.129371114del g.129049969delA c.164delA - LAMA2_000232 ACMG PVS1, PM2, PP3 PubMed: Özyilmaz 2019 - - Germline - - - 0 - Johan den Dunnen
?/. 2 c.184G>T - r.(?) p.(Gly62*) g.129371134G>T g.129049989G>T - - LAMA2_000315 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
+?/+? 2 c.184G>T ACMG: 4 (recessive) r.(?) p.(Gly62*) g.129371134G>T - - - LAMA2_000315 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
?/. 2 c.245A>T - r.(?) p.(Gln82Leu) g.129371195A>T g.129050050A>T - - LAMA2_000491 PolyPhen-2 score 0.99 (probably pathogenic) - - - Germline ? - - 0 - Andreas Laner
?/? 2 c.245A>T ACMG: 3 r.(?) p.(Gln82Leu) g.129371195A>T - - - LAMA2_000491 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. 2 c.(247T>C) - r.(247u>c) p.Cys83Arg g.129371197T>C g.129050052T>C - - LAMA2_000413 animal model PubMed: Patton 2008 - - Germline - - - 0 - Johan den Dunnen
+/+ 2 c.(247T>C) ACMG: 5 (recessive) r.(?) p.(Cys83Arg) g.129371197T>C - - - LAMA2_000413 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
-/. 2 c.255C>T benign r.(?) p.(=) g.129371205C>T - LAMA2(NM_000426.3):c.255C>T (p.I85=) - LAMA2_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. 2 c.255C>T likely benign r.(?) p.(=) g.129371205C>T - LAMA2(NM_000426.3):c.255C>T (p.I85=) - LAMA2_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/-? 2 c.255C>T ACMG: 2 r.(?) p.(=) g.129371205C>T - - - LAMA2_000497 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
?/. 2 c.257G>A - r.(?) p.(Cys86Tyr) g.129371207G>A g.129050062G>A - - LAMA2_000007 - Subm. FMuntoni - - Germline - - - 0 - Johan den Dunnen
?/? 2 c.257G>A ACMG: 3 r.(?) p.(Cys86Tyr) g.129371207G>A - - - LAMA2_000007 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
?/. 2 c.277C>A VUS r.(?) p.(Pro93Thr) g.129371227C>A - - - LAMA2_000542 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/? 2 c.277C>A ACMG: 3 r.(?) p.(Pro93Thr) g.129371227C>A - - - LAMA2_000542 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. 2 c.283C>T - r.283c>u p.Gln95* g.129371233C>T g.129050088C>T - - LAMA2_000136 - PubMed: Di Blasi 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.283C>T - r.283c>u p.Gln95* g.129371233C>T g.129050088C>T - - LAMA2_000136 - PubMed: Di Blasi 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.283C>T - r.(?) p.(Gln95*) g.129371233C>T g.129050088C>T - - LAMA2_000136 - PubMed: Xiong 2014 - - Germline - - - 0 - Jorge Oliveira
+/+ 2 c.283C>T ACMG: 5 (recessive) r.(?) p.(Gln95*) g.129371233C>T - - - LAMA2_000136 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. 2i c.(283+1G>A) - r.spl? p.(Val78_Gln132del) g.129371234G>A g.129050089G>A - - LAMA2_000000 - PubMed: Hu 1994 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/+ 2i c.(283+1G>A) ACMG: 5 (recessive) r.spl p.(Val78_Gln132del) g.129371234G>A - - - LAMA2_000000 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. 2i c.283+1G>A - r.spl? p.? g.129371234G>A g.129050089G>A - - LAMA2_000261 - PubMed: Geranmayeh 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.283+1G>A - r.spl? p.? g.129371234G>A g.129050089G>A - - LAMA2_000261 - - - - Germline - - - 0 - Tom Winder
+/+ 2i c.283+1G>A ACMG: 5 (recessive) r.spl p.? g.129371234G>A - - - LAMA2_000261 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+/. 2i c.283+1G>C - r.spl? p.? g.129371234G>C g.129050089G>C - - LAMA2_000473 - PubMed: Xiong 2014 - - Germline - - - 0 - Jorge Oliveira
+/. 2i c.283+1G>C - r.spl? p.? g.129371234G>C g.129050089G>C - - LAMA2_000473 - PubMed: Xiong 2014 - - Germline - - - 0 - Jorge Oliveira
+/+ 2i c.283+1G>C ACMG: 5 (recessive) r.spl p.? g.129371234G>C - - - LAMA2_000473 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
+?/. 2i c.283+2del - r.spl? p.? g.129371235del g.129050090del - - LAMA2_000073 - - - - Germline - - - 0 - Tom Winder
+?/+? 2i c.283+2del ACMG: 4 (recessive) r.spl p.? g.129371235del - - - LAMA2_000073 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - Jorge Oliveira
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