All 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.

2476 entries on 25 pages. Showing entries 1 - 100.
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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     
+/. 1i_12i c.(112+1_113-1)_(1782+1_1783-1))del r.? p.? ACMG pathogenic (recessive) g.(129204503_129371062)_(129513999_129571256)del - del ex2-12 - LAMA2_000766 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - Johan den Dunnen
+/. _1_1i c.-105_(112+1_113-1){0} r.0? p.0? ACMG pathogenic (recessive) g.(?_129204286)_(129204503_129371062)del g.(?_128883141)_(128883358_129049917)del del ex1 - LAMA2_000763 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - Johan den Dunnen
+/. _1_1i c.-105_(112+1_113-1){0} r.0? p.0? ACMG pathogenic (recessive) g.(?_129204286)_(129204503_129371062)del g.(?_128883141)_(128883358_129049917)del del ex1 - LAMA2_000763 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - Johan den Dunnen
+/. _1_1i c.-105_(112+1_113-1){0} r.0? p.0? ACMG pathogenic (recessive) g.(?_129204286)_(129204503_129371062)del g.(?_128883141)_(128883358_129049917)del del ex1 - LAMA2_000763 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - Johan den Dunnen
+/. _1_1i c.-105_(112+1_113-1){0} r.0? p.0? ACMG pathogenic (recessive) g.(?_129204286)_(129204503_129371062)del g.(?_128883141)_(128883358_129049917)del del ex1 - LAMA2_000763 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - Johan den Dunnen
?/. 1 c.-17del r.(?) p.(=) - VUS g.129204374del g.128883229del - - LAMA2_000314 - from website {DBsub-Emory} - - Germline - - - - - Madhuri Hegde
?/? 1 c.-17del r.(?) p.(=) ACMG VUS g.129204374del g.128883229del - - LAMA2_000314 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+/. 35i_65_ c.(5072-2432_5072-1409)_*219{0} r.? p.? ACMG pathogenic (recessive) g.(129710204_129711227)_(132942814_133179434)del - del ex36-65 - LAMA2_000437 - PubMed: Ding 2016, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - Johan den Dunnen
+/. 35i_65_ c.(5072-2432_5072-1409)_*219{0} r.? p.? ACMG pathogenic (recessive) g.(129710204_129711227)_(132942814_133179434)del - del ex36-65 - LAMA2_000437 - PubMed: Ding 2016, PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - Johan den Dunnen
+/. 58 c.? r.8076_8244del p.Pro2693_His2748delfs*12 - pathogenic (recessive) g.? - 8124-8293del - LAMA2_000000 unknown variant 2nd chromosome PubMed: Pegoraro 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 c.? r.0 p.0 - pathogenic (recessive) g.? - - - LAMA2_000000 - PubMed: Hayashi 1995 - - Germline - 1/40 patients - - - Johan den Dunnen
+/. 1 c.? r.0 p.0 - pathogenic (recessive) g.? - - - LAMA2_000000 - PubMed: Hayashi 1995 - - Germline - 1/40 patients - - - Johan den Dunnen
?/. _1_65_ c.? r.0 p.0 - VUS g.? - - - LAMA2_000000 allele not expressed PubMed: Tezak 2003, OMIM:var0010 - - Germline - - - - - Johan den Dunnen
+/. 55i c.? r.7750_7898del p.Ala2584Hisfs*8 - pathogenic (recessive) g.? - r.7798-7947del - LAMA2_000000 - PubMed: Hayashi 2001 - - Germline - - - - - Johan den Dunnen
+/. 55i c.? r.7750_7898del p.Ala2584Hisfs*8 - pathogenic (recessive) g.? - r.7798-7947del - LAMA2_000000 - PubMed: Hayashi 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 c.? r.0 p.0 - pathogenic (recessive) g.? - - - LAMA2_000000 variant in promoter? PubMed: Pegoraro 1998, PubMed: Hayashi 2001 - - Germline - - - - - Johan den Dunnen
?/. _1_65_ c.? r.0 p.0 - VUS g.? - - - LAMA2_000000 allele not expressed PubMed: Tezak 2003, OMIM:var0009 - - Germline - - - - - Johan den Dunnen
+/. _1_65_ c.? r.? p.? - pathogenic (recessive) g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - - - Johan den Dunnen
?/. _1_65_ c.? r.? p.? - VUS g.? - - - LAMA2_000000 unknown chromosome PubMed: Geranmayeh 2010 - - Germline - - - - - Johan den Dunnen
+/. _1_65_ c.? r.? p.? - pathogenic (recessive) g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - - - Johan den Dunnen
+/. _1_65_ c.? r.? p.? - pathogenic (recessive) g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - - - Johan den Dunnen
+/. _1_65_ c.? r.? p.? - pathogenic (recessive) g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 c.2T>C r.2u>c p.0? - pathogenic (recessive) g.129204392T>C g.128883247T>C T51C - LAMA2_000003 unknown variant 2nd chromosome PubMed: Pegoraro 1998, PubMed: Hayashi 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 c.2T>C r.(?) p.0? - pathogenic (recessive) g.129204392T>C g.128883247T>C - - LAMA2_000003 - - - - Germline - - - - - Tom Winder
+?/. 1 c.2T>C r.(?) p.0? - likely pathogenic (recessive) g.129204392T>C g.128883247T>C - - LAMA2_000003 - - - - Germline - - - - - Tom Winder
+?/. 1 c.2T>C r.(?) p.0? - likely pathogenic (recessive) g.129204392T>C g.128883247T>C (Met1Thr) - LAMA2_000003 - - - - Germline - - - - - Tom Winder
+/. 1 c.2T>C r.(?) p.0? - pathogenic (recessive) g.129204392T>C g.128883247T>C Met1Thr - LAMA2_000003 - - - - Germline - - - - - Tom Winder
+/+ 1 c.2T>C r.(?) p.0? ACMG pathogenic (recessive) g.129204392T>C g.128883247T>C - - LAMA2_000003 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
-?/. - 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
?/. 1 c.32T>C r.(?) p.(Leu11Pro) - VUS g.129204422T>C g.128883277T>C - - LAMA2_000482 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline - - - - - Jorge Oliveira
?/? 1 c.32T>C r.(?) p.(Leu11Pro) ACMG VUS g.129204422T>C g.128883277T>C - - LAMA2_000482 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
?/. 1 c.35T>G r.(?) p.(Leu12Arg) - VUS g.129204425T>G g.128883280T>G - - LAMA2_000190 - - - - Germline - - - - - Tom Winder
+/. 1 c.35T>G r.(?) p.(Leu12Arg) - pathogenic (recessive) g.129204425T>G g.128883280T>G - - LAMA2_000190 - PubMed: Løkken 2015 - - Germline - - - - - Jorge Oliveira
+/+ 1 c.35T>G r.(?) p.(Leu12Arg) ACMG pathogenic (recessive) g.129204425T>G g.128883280T>G - - LAMA2_000190 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+?/. 1 c.47del r.(?) p.(Gly16Alafs*29) - likely pathogenic (recessive) g.129204437del g.128883292del - - LAMA2_000230 - - - - Germline - - - - - Tom Winder
+/+ 1 c.47del r.(?) p.(Gly16Alafs*29) ACMG pathogenic (recessive) g.129204437del g.128883292del - - LAMA2_000230 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+/. - c.54_64del r.(?) p.(Gly19AlafsTer27) - pathogenic g.129204444_129204454del g.128883299_128883309del LAMA2(NM_000426.4):c.54_64delGGGCGTACAGG (p.G19Afs*27) - LAMA2_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 c.56dup r.(?) p.(Val20ArgfsTer30) ACMG pathogenic (recessive) g.129204446dup g.128883301dup c.56dupG - LAMA2_000764 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 c.56dup r.(?) p.(Val20ArgfsTer30) ACMG pathogenic (recessive) g.129204446dup g.128883301dup c.56dupG - LAMA2_000764 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - Johan den Dunnen
+/+ 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
-?/. - 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
+/. 1 c.82C>T r.82c>u p.Gln28* - pathogenic (recessive) g.129204472C>T g.128883327C>T C131T - LAMA2_000004 unknown variant 2nd chromosome PubMed: Pegoraro 1998 - - Germline - - - - - Johan den Dunnen
+/+ 1 c.82C>T r.(?) p.(Gln28*) ACMG pathogenic (recessive) g.129204472C>T g.128883327C>T - - LAMA2_000004 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+?/. 1 c.94C>T r.(?) p.(Gln32*) - likely pathogenic (recessive) g.129204484C>T g.128883339C>T - - LAMA2_000205 - - - - Germline - - - - - Tom Winder
+/. 1 c.94C>T r.(?) p.(Gln32Ter) - pathogenic g.129204484C>T g.128883339C>T - - LAMA2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 c.94C>T r.(?) p.(Gln32*) ACMG likely pathogenic (recessive) g.129204484C>T g.128883339C>T - - LAMA2_000205 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
?/. 1 c.112G>A r.(?)^r.(spl?) p.(Gly38Ser)^p.? - VUS g.129204502G>A g.128883357G>A - - LAMA2_000309 - - - - Germline - - - - - Tom Winder
?/? 1 c.112G>A r.spl? p.(Gly38Ser) ACMG VUS g.129204502G>A g.128883357G>A - - LAMA2_000309 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
?/? 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
+/. 1i c.112+1G>A r.spl? p.? - pathogenic (recessive) g.129204503G>A g.128883358G>A - - LAMA2_000260 - PubMed: Geranmayeh 2010 - - Germline - - - - - Johan den Dunnen
?/. 1i c.112+1G>A r.spl? p.? - VUS g.129204503G>A g.128883358G>A - - LAMA2_000260 - from website {DBsub-Emory} - - Germline - - - - - Madhuri Hegde
+/. 1i c.112+1G>A r.spl? p.? - pathogenic (recessive) g.129204503G>A g.128883358G>A - - LAMA2_000260 - - - - Germline - - - - - Vikki Stefans
+/+ 1i c.112+1G>A r.spl p.? ACMG pathogenic (recessive) g.129204503G>A g.128883358G>A - - LAMA2_000260 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+/. 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
+/. 1i c.112+3A>G r.(spl?) p.? - pathogenic (recessive) g.129204505A>G g.128883360A>G 161+3A>G - LAMA2_000084 unknown variant 2nd chromosome PubMed: Allamand 2002 - - Germline - - - - - Johan den Dunnen
+/+ 1i c.112+3A>G r.spl? p.? ACMG pathogenic (recessive) g.129204505A>G g.128883360A>G - - LAMA2_000084 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+?/. - 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
+?/. - c.112+43247C>G - - - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO T58R - RHO_000130 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - LOVD
+?/. - c.112+45258C>T - - - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO R135W - RHO_000001 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - LOVD
+?/. - 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
+?/. 1i_12i c.(112+1_113-50)_(1782+50_1783-1)dup r.? p.? ACMG likely pathogenic (recessive) g.(129204503_129371013)_(129514048_129571256)dup g.(128883358_129049868)_(129192903_129250111)dup NGS del ex2-12 - LAMA2_000850 ACMG: PVS1_STR, PM3, PM2_SUP PubMed: Ge 2019, Tan 2021 - - Germline ? - - - - Andreas Laner
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.(del?) p.(fs*?) - pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - Jorge Oliveira
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.(del?) p.(fs*?) - pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - Jorge Oliveira
+/+ 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.spl p.? ACMG pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.? p.? ACMG pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - del ex2-3 - LAMA2_000460 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - Johan den Dunnen
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.? p.? ACMG pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - del ex2-3 - LAMA2_000460 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - Johan den Dunnen
+/. 1i_9i c.(112+1_113-1)_(1306+1_1307-1)del r.? p.? ACMG pathogenic (recessive) g.(129204503_129371062)_(129486821_129498850)del - del ex2-9 - LAMA2_000765 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - Johan den Dunnen
?/. 2 c.149C>T r.(?) p.(Ala50Val) - VUS g.129371099C>T g.129049954C>T - - LAMA2_000541 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 2 c.149C>T r.(?) p.(Ala50Val) ACMG VUS g.129371099C>T g.129049954C>T - - LAMA2_000541 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
-/. 2 c.156C>T r.(?) p.(=) - benign g.129371106C>T g.129049961C>T - - LAMA2_000153 - - - rs1140366 Germline - - - - - Rosário dos Santos
-/. 2 c.156C>T r.(?) p.(=) - benign g.129371106C>T g.129049961C>T I521I - LAMA2_000153 - PubMed: Di Blasi 2005 - rs1140366 Germline - 0.19 - - - Johan den Dunnen
-/. 2 c.156C>T r.(?) p.(=) - benign g.129371106C>T g.129049961C>T - - LAMA2_000153 - from website {DBsub-Emory} - rs1140366 Germline - - - - - Madhuri Hegde
-/. 2 c.156C>T r.(?) p.(Ile52=) - benign g.129371106C>T g.129049961C>T LAMA2(NM_000426.4):c.156C>T (p.I52=) - LAMA2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 c.156C>T r.(?) p.(Ile52=) - benign g.129371106C>T g.129049961C>T LAMA2(NM_000426.4):c.156C>T (p.I52=) - LAMA2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/- 2 c.156C>T r.(?) p.(=) ACMG benign g.129371106C>T g.129049961C>T - - LAMA2_000153 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+?/. 2 c.164del r.(?) p.(Asn55Metfs*16) - likely pathogenic (recessive) g.129371114del g.129049969del - - LAMA2_000232 unknown variant 2nd chromosome - - - Germline - - - - - Tom Winder
+?/+? 2 c.164del r.(?) p.(Asn55Metfs*16) ACMG likely pathogenic (recessive) g.129371114del g.129049969del - - LAMA2_000232 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+/. - c.164del r.(?) p.(Asn55Metfs*16) ACMG pathogenic g.129371114del g.129049969del c.164delA - LAMA2_000232 ACMG PVS1, PM2, PP3 PubMed: Özyilmaz 2019 - - Germline - - - - - Johan den Dunnen
?/. 2 c.176G>A r.(?) p.(Gly59Glu) - VUS g.129371126G>A g.129049981G>A - - LAMA2_000709 - PubMed: Ganapathy 2019 - rs748303070 Germline - - - - - Johan den Dunnen
?/. 2 c.184G>T r.(?) p.(Gly62*) - VUS g.129371134G>T g.129049989G>T - - LAMA2_000315 - from website {DBsub-Emory} - - Germline - - - - - Madhuri Hegde
+?/+? 2 c.184G>T r.(?) p.(Gly62*) ACMG likely pathogenic (recessive) g.129371134G>T g.129049989G>T - - LAMA2_000315 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+/. - c.184G>T r.(?) p.(Gly62*) - pathogenic (recessive) g.129371134G>T g.129049989G>T - - LAMA2_000315 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123368 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. - c.236G>A r.(?) p.(Arg79Lys) - VUS g.129371186G>A - - - LAMA2_000726 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 c.245A>T r.(?) p.(Gln82Leu) ACMG VUS g.129371195A>T g.129050050A>T - - LAMA2_000491 PolyPhen-2 score 0.99 (probably pathogenic) - - - Germline ? - - - - Andreas Laner
?/? 2 c.245A>T r.(?) p.(Gln82Leu) ACMG VUS g.129371195A>T g.129050050A>T - - LAMA2_000491 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+/. 2 c.(247T>C) r.(247u>c) p.Cys83Arg - pathogenic (recessive) g.129371197T>C g.129050052T>C - - LAMA2_000413 animal model PubMed: Patton 2008 - - Germline - - - - - Johan den Dunnen
+/+ 2 c.(247T>C) r.(?) p.(Cys83Arg) ACMG pathogenic (recessive) g.129371197T>C g.129050052T>C - - LAMA2_000413 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+/. 2 c.250C>T r.(?) p.(Arg84Ter) - pathogenic g.129371200C>T g.129050055C>T - - LAMA2_000710 - PubMed: Ganapathy 2019 - rs868019991 Germline - - - - - Johan den Dunnen
+/. 2 c.250C>T r.(?) p.(Arg84Ter) ACMG pathogenic (recessive) g.129371200C>T g.129050055C>T - - LAMA2_000710 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - Johan den Dunnen
-/. 2 c.255C>T r.(?) p.(Ile85=) - benign g.129371205C>T g.129050060C>T LAMA2(NM_000426.3):c.255C>T (p.I85=, p.(=)), LAMA2(NM_000426.4):c.255C>T (p.I85=) - LAMA2_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 c.255C>T r.(?) p.(Ile85=) - likely benign g.129371205C>T g.129050060C>T LAMA2(NM_000426.3):c.255C>T (p.I85=, p.(=)), LAMA2(NM_000426.4):c.255C>T (p.I85=) - LAMA2_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 2 c.255C>T r.(?) p.(=) ACMG likely benign g.129371205C>T g.129050060C>T - - LAMA2_000497 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
-?/. - c.255C>T r.(?) p.(Ile85=) - likely benign g.129371205C>T - LAMA2(NM_000426.3):c.255C>T (p.I85=, p.(=)), LAMA2(NM_000426.4):c.255C>T (p.I85=) - LAMA2_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 c.257G>A r.(?) p.(Cys86Tyr) - VUS g.129371207G>A g.129050062G>A - - LAMA2_000007 - Subm. FMuntoni - - Germline - - - - - Johan den Dunnen
?/? 2 c.257G>A r.(?) p.(Cys86Tyr) ACMG VUS g.129371207G>A g.129050062G>A - - LAMA2_000007 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
?/. 2 c.277C>A r.(?) p.(Pro93Thr) - VUS g.129371227C>A g.129050082C>A - - LAMA2_000542 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 2 c.277C>A r.(?) p.(Pro93Thr) ACMG VUS g.129371227C>A g.129050082C>A - - LAMA2_000542 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - Jorge Oliveira
+/. 2 c.283C>T r.283c>u p.Gln95* - pathogenic (recessive) g.129371233C>T g.129050088C>T - - LAMA2_000136 - PubMed: Di Blasi 2005 - - Germline - - - - - Johan den Dunnen
+/. 2 c.283C>T r.283c>u p.Gln95* - pathogenic (recessive) g.129371233C>T g.129050088C>T - - LAMA2_000136 - PubMed: Di Blasi 2005 - - Germline - - - - - Johan den Dunnen
+/. 2 c.283C>T r.(?) p.(Gln95*) - pathogenic (recessive) g.129371233C>T g.129050088C>T - - LAMA2_000136 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - Jorge Oliveira
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