Full data view for 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.

2215 entries on 23 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 3i_4i del ex4 r.? p.? Paternal (confirmed) - 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 - 0 - DNA MLPA, SEQ - - BMD/DMD P63 PubMed: Wang 2019 analysis 70 unrelated MD families F - China - - 0 - - 1 Johan den Dunnen
+/. 3i_4i del ex4 r.? p.? Maternal (confirmed) - 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 - 0 - DNA MLPA, SEQ - - BMD/DMD P64 PubMed: Wang 2019 analysis 70 unrelated MD families M - China - - 0 - - 1 Johan den Dunnen
?/. 1 c.-17del r.(?) p.(=) Unknown - VUS g.129204374del g.128883229del - - LAMA2_000314 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/? 1 c.-17del r.(?) p.(=) Unknown ACMG VUS g.129204374del g.128883229del - - LAMA2_000314 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.(112+1_113-1)? r.[112_113ins112+1_112+75{?}] p.(fs*) Paternal (inferred) - pathogenic (recessive) g.(129204503_129371062)? - 162ins75 - LAMA2_000006 - PubMed: Hayashi 1997 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC 09113020_Pat PubMed: Hayashi 1997 - M - Japan - >41y 0 - - 1 Johan den Dunnen
+/. 35i c.(5071+1_5072-1)ins(?) r.5071_5072ins(?) p.fs* Paternal (confirmed) - 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 - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC ? {PMID:Besse 2003:PMID12609503:} dyPAS mouse model - - - - - 0 - - 1 Johan den Dunnen
+/. 58 c.? r.8076_8244del p.Pro2693_His2748delfs*12 Parent #1 - pathogenic (recessive) g.? - 8124-8293del - LAMA2_000000 unknown variant 2nd chromosome PubMed: Pegoraro 1998 - - Germline - - - 0 - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat12 PubMed: Pegoraro 1998 contractures ankles, abnormal white matter, no seizures M - (United States) - - 0 - - 1 Johan den Dunnen
?/. _1_65_ c.? r.? p.? Parent #2 - VUS g.? - - - LAMA2_000000 - - - - Germline - - - 0 - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat12 PubMed: Pegoraro 1998 contractures ankles, abnormal white matter, no seizures M - (United States) - - 0 - - 1 Johan den Dunnen
+/. 1 c.? r.0 p.0 Parent #1 - pathogenic (recessive) g.? - - - LAMA2_000000 - PubMed: Hayashi 1995 - - Germline - 1/40 patients - 0 - DNA, RNA RT-PCR - - MDC 07643867-Pat PubMed: Hayashi 1995 - F no Japan - 1y11m 0 - - 1 Johan den Dunnen
+/. 1 c.? r.0 p.0 Parent #2 - pathogenic (recessive) g.? - - - LAMA2_000000 - PubMed: Hayashi 1995 - - Germline - 1/40 patients - 0 - DNA, RNA RT-PCR - - MDC 07643867-Pat PubMed: Hayashi 1995 - F no Japan - 1y11m 0 - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - LAMA2_000000 - - - - Germline - - - 0 - DNA SEQ - - MDC 11938437-pat? PubMed: Allamand 2002 - - - (France) - - 0 - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - LAMA2_000000 - - - - Germline - - - 0 - DNA SEQ - - MDC 11938437-pat? acc. to PubMed: Allamand 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - LAMA2_000000 - - - - Germline - - - 0 - DNA SEQ - - MDC 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - 1 Johan den Dunnen
?/. _1_65_ c.? r.0 p.0 Parent #2 - VUS g.? - - - LAMA2_000000 allele not expressed PubMed: Tezak 2003, OMIM:var0010 - - Germline - - - 0 - DNA, RNA RT-PCR, DHPLC - - MDC 12552556-Pat2 PubMed: Tezak 2003, OMIM:var0010 - F - United States - >4y 0 - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - LAMA2_000000 - - - - Germline - - - 0 - DNA SEQ - - MDC 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - 0 - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - - - LAMA2_000000 - - - - Germline - - - 0 - DNA SEQ - - MDC 11938437-PG PubMed: Allamand 2002 - - - (France) - - 0 - - 1 Johan den Dunnen
?/. _1_65_ c.? r.? p.? Parent #2 - VUS g.? - - - LAMA2_000000 - - - - Germline - - - 0 - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat7 PubMed: Pegoraro 1998 contractures ankles/knees/wrists/elbows, abnormal white matter, no seizures M - (United States) - - 0 - - 1 Johan den Dunnen
?/. _1_65_ c.? r.? p.? Paternal (inferred) - VUS g.? - - - LAMA2_000000 - - - - Germline - - - 0 - DNA SEQ - - MDC 09541105-Fam490 - 2-generation family, affected son, unaffected carrier father M no - - - 0 - - 1 Johan den Dunnen
+/. 55i c.? r.7750_7898del p.Ala2584Hisfs*8 Parent #1 - pathogenic (recessive) g.? - r.7798-7947del - LAMA2_000000 - PubMed: Hayashi 2001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC 11369186-Pat5 PubMed: Hayashi 2001 - F - Japan - >7m 0 - - 1 Johan den Dunnen
+/. 55i c.? r.7750_7898del p.Ala2584Hisfs*8 Parent #2 - pathogenic (recessive) g.? - r.7798-7947del - LAMA2_000000 - PubMed: Hayashi 2001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC 11369186-Pat5 PubMed: Hayashi 2001 - F - Japan - >7m 0 - - 1 Johan den Dunnen
+/. 1 c.? r.0 p.0 Parent #2 - pathogenic (recessive) g.? - - - LAMA2_000000 variant in promoter? PubMed: Pegoraro 1998, PubMed: Hayashi 2001 - - Germline - - - 0 - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat5/Pat2 PubMed: Pegoraro 1998, PubMed: Hayashi 2001 contractures wrists/ankles, abnormal white matter, no seizures M - Japan - - 0 - - 1 Johan den Dunnen
?/. _1_65_ c.? r.0 p.0 Parent #2 - VUS g.? - - - LAMA2_000000 allele not expressed PubMed: Tezak 2003, OMIM:var0009 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC 12552556-Pat1 PubMed: Tezak 2003, OMIM:var0009 - F - United States - >24y 0 - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - 0 - DNA SEQ - - MDC 20207543-Pat09 PubMed: Geranmayeh 2010 - F - United Kingdom (Great Britain) Ireland >2y 0 - - 1 Johan den Dunnen
?/. _1_65_ c.? r.? p.? Both (homozygous) - VUS g.? - - - LAMA2_000000 unknown chromosome PubMed: Geranmayeh 2010 - - Germline - - - 0 - DNA SEQ - - MDC 20207543-Pat11 PubMed: Geranmayeh 2010 - F - - - >2y1m 0 - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - 0 - DNA SEQ - - MDC 20207543-Pat29 PubMed: Geranmayeh 2010 - F - United Kingdom (Great Britain) Ireland >6y6m 0 - - 1 Johan den Dunnen
?/. _1_65_ c.? r.? p.? Both (homozygous) - VUS g.? - - - LAMA2_000000 unknown variant PubMed: Naom 2000, PubMed: Geranmayeh 2010 - - Germline - - - 0 - DNA SEQ - - MDC 20207543-Pat32 PubMed: Naom 2000, PubMed: Geranmayeh 2010 patient's parents heterozygous for common haplotype seen in other families with MDC1A affecteds + homozygously present in affecteds; no DNA available M - - - >10y 0 - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - 0 - DNA SEQ - - MDC 20207543-Pat36 PubMed: Geranmayeh 2010 - F - United Kingdom (Great Britain) Ireland >12y 0 - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - 0 - DNA SEQ - - MDC 20207543-Pat50 PubMed: Geranmayeh 2010 - M - United Kingdom (Great Britain) Ireland >7y7m 0 - - 1 Johan den Dunnen
+/. 1 c.2T>C r.2u>c p.0? Parent #1 - pathogenic (recessive) g.129204392T>C g.128883247T>C T51C - LAMA2_000003 unknown variant 2nd chromosome PubMed: Pegoraro 1998, PubMed: Hayashi 2001 - - Germline - - - 0 - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat20/Pat9 PubMed: Pegoraro 1998, PubMed: Hayashi 2001 contractures elbows/wrists/hips/knees/ankles, abnormal white matter (hypoplastics pons.), no seizures M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1 c.2T>C r.(?) p.0? Unknown - pathogenic (recessive) g.129204392T>C g.128883247T>C - - LAMA2_000003 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - M - United States - - 0 - - 1 Tom Winder
+?/. 1 c.2T>C r.(?) p.0? Unknown - likely pathogenic (recessive) g.129204392T>C g.128883247T>C - - LAMA2_000003 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - M - United States - - 0 - - 1 Tom Winder
+?/. 1 c.2T>C r.(?) p.0? Maternal (confirmed) - likely pathogenic (recessive) g.129204392T>C g.128883247T>C (Met1Thr) - LAMA2_000003 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - M - (United States) - - 0 - - 1 Tom Winder
+/. 1 c.2T>C r.(?) p.0? Parent #1 - pathogenic (recessive) g.129204392T>C g.128883247T>C Met1Thr - LAMA2_000003 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC ? - - - - United States - - 0 - - 1 Tom Winder
+/+ 1 c.2T>C r.(?) p.0? Unknown ACMG pathogenic (recessive) g.129204392T>C g.128883247T>C - - LAMA2_000003 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.13G>A r.(?) p.(Ala5Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.32T>C r.(?) p.(Leu11Pro) Unknown - VUS g.129204422T>C g.128883277T>C - - LAMA2_000482 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - - Portugal - - 0 - - 1 Jorge Oliveira
?/? 1 c.32T>C r.(?) p.(Leu11Pro) Unknown ACMG VUS g.129204422T>C g.128883277T>C - - LAMA2_000482 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.35T>G r.(?) p.(Leu12Arg) Unknown - VUS g.129204425T>G g.128883280T>G - - LAMA2_000190 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - F - United States - - 0 - - 1 Tom Winder
+/. 1 c.35T>G r.(?) p.(Leu12Arg) Unknown - pathogenic (recessive) g.129204425T>G g.128883280T>G - - LAMA2_000190 - PubMed: Løkken 2015 - - Germline - - - 0 - DNA SEQ - - LGMD 25663498-Pat7 PubMed: Løkken 2015 - F - Denmark - >32y 0 - - 1 Jorge Oliveira
+/+ 1 c.35T>G r.(?) p.(Leu12Arg) Unknown ACMG pathogenic (recessive) g.129204425T>G g.128883280T>G - - LAMA2_000190 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.47del r.(?) p.(Gly16Alafs*29) Paternal (confirmed) - likely pathogenic (recessive) g.129204437del g.128883292del - - LAMA2_000230 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - M - (United States) - - 0 - - 1 Tom Winder
+/+ 1 c.47del r.(?) p.(Gly16Alafs*29) Unknown ACMG pathogenic (recessive) g.129204437del g.128883292del - - LAMA2_000230 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.54_64del r.(?) p.(Gly19AlafsTer27) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.67_71del r.(?) p.(Gln23Alafs*25) Unknown ACMG pathogenic (recessive) g.129204457_129204461del g.128883312_128883316del - - LAMA2_000539 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.74C>T r.(?) p.(Pro25Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.82C>T r.82c>u p.Gln28* Parent #1 - pathogenic (recessive) g.129204472C>T g.128883327C>T C131T - LAMA2_000004 unknown variant 2nd chromosome PubMed: Pegoraro 1998 - - Germline - - - 0 - DNA, RNA PTT, SEQ, SSCA - - MDC 09674786-Pat18 PubMed: Pegoraro 1998 - M - (United States) - 9y 0 - - 1 Johan den Dunnen
+/+ 1 c.82C>T r.(?) p.(Gln28*) Unknown ACMG pathogenic (recessive) g.129204472C>T g.128883327C>T - - LAMA2_000004 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.94C>T r.(?) p.(Gln32*) Unknown - likely pathogenic (recessive) g.129204484C>T g.128883339C>T - - LAMA2_000205 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - F - Canada - - 0 - - 1 Tom Winder
+/. 1 c.94C>T r.(?) p.(Gln32Ter) Unknown - pathogenic g.129204484C>T g.128883339C>T - - LAMA2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.94C>T r.(?) p.(Gln32*) Unknown ACMG likely pathogenic (recessive) g.129204484C>T g.128883339C>T - - LAMA2_000205 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.112G>A r.(?)^r.(spl?) p.(Gly38Ser)^p.? Both (homozygous) - VUS g.129204502G>A g.128883357G>A - - LAMA2_000309 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC ? - - M - Saudi Arabia Arab - 0 - - 1 Tom Winder
?/? 1 c.112G>A r.spl? p.(Gly38Ser) Unknown ACMG VUS g.129204502G>A g.128883357G>A - - LAMA2_000309 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 1 c.112G>T r.spl? p.(Gly38Cys) Unknown ACMG VUS g.129204502G>T g.128883357G>T - - LAMA2_000540 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.112+1G>A r.spl? p.? Parent #1 - pathogenic (recessive) g.129204503G>A g.128883358G>A - - LAMA2_000260 - PubMed: Geranmayeh 2010 - - Germline - - - 0 - DNA SEQ - - MDC 20207543-Pat24 PubMed: Geranmayeh 2010 - F - - - >5y6m 0 - - 1 Johan den Dunnen
?/. 1i c.112+1G>A r.spl? p.? Unknown - VUS g.129204503G>A g.128883358G>A - - LAMA2_000260 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1i c.112+1G>A r.spl? p.? Unknown - pathogenic (recessive) g.129204503G>A g.128883358G>A - - LAMA2_000260 - - - - Germline - - - 0 - DNA arrayCGH, SEQ, SEQ-NG - - MDC ? - 2-generation family, 1 affected F no (United States) white - 0 - - 1 Vikki Stefans
+/+ 1i c.112+1G>A r.spl p.? Unknown ACMG pathogenic (recessive) g.129204503G>A g.128883358G>A - - LAMA2_000260 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.112+3A>G r.(spl?) p.? Parent #1 - pathogenic (recessive) g.129204505A>G g.128883360A>G 161+3A>G - LAMA2_000084 unknown variant 2nd chromosome PubMed: Allamand 2002 - - Germline - - - 0 - DNA SEQ - - MDC 11938437-pat? PubMed: Allamand 2002 - - - (France) - - 0 - - 1 Johan den Dunnen
+/+ 1i c.112+3A>G r.spl? p.? Unknown ACMG pathogenic (recessive) g.129204505A>G g.128883360A>G - - LAMA2_000084 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.112+43141C>G - - Paternal (confirmed) - 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 - - 0 - DNA SSCA, SEQ blood - retinal disease III:3 PubMed: Oh 2000 no individual ID, only number of individuals with the mutation; mutation report M - United States - - 0 - - 1 LOVD
+?/. - c.112+43247C>G - - Unknown - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO T58R - RHO_000130 heterozygous PubMed: Aleman 2008 - - Germline yes - - 0 - DNA SEQ blood - retinal disease 9_P3 PubMed: Aleman 2008 - F - United States - - 0 - - 1 LOVD
+?/. - c.112+45258C>T - - Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO R135W - RHO_000001 heterozygous PubMed: Aleman 2008 - - Germline yes - - 0 - DNA SEQ blood - retinal disease 2_P1 PubMed: Aleman 2008 - M - United States - - 0 - - 1 LOVD
+?/. - c.112+47114G>T r.(=) p.(=) Paternal (confirmed) - 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 - - 0 - DNA DGGE blood - retinal disease HS461-4 PubMed: Macke_1993 - F - United States - - 0 - - 1 LOVD
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.(del?) p.(fs*?) Paternal (confirmed) - pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 - PubMed: Xiong 2014 - - Germline - - - 0 - DNA MLPA, SEQ - - MDC 24611677-Pat15 PubMed: Xiong 2014 Sister of patient 24611677-Pat15 (00103669) F - China Uyghur >05y 0 - - 1 Jorge Oliveira
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.(del?) p.(fs*?) Paternal (confirmed) - pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 - PubMed: Xiong 2014 - - Germline - - - 0 - DNA MLPA, SEQ - - MDC 24611677-Pat16 PubMed: Xiong 2014 Sister of patient 24611677-Pat15 (00103668) F - China - 13y 0 - - 1 Jorge Oliveira
+/+ 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.spl p.? Unknown ACMG pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.149C>T r.(?) p.(Ala50Val) Unknown - VUS g.129371099C>T g.129049954C>T - - LAMA2_000541 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.149C>T r.(?) p.(Ala50Val) Unknown ACMG VUS g.129371099C>T g.129049954C>T - - LAMA2_000541 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.156C>T r.(?) p.(=) Unknown - benign g.129371106C>T g.129049961C>T - - LAMA2_000153 - - - rs1140366 Germline - - - 0 - DNA SEQ - - Healthy/Control ? - - - - Portugal - - 0 - - 1 Rosário dos Santos
-/. 2 c.156C>T r.(?) p.(=) Unknown - benign g.129371106C>T g.129049961C>T I521I - LAMA2_000153 - PubMed: Di Blasi 2005 - rs1140366 Germline - 0.19 - 0 - DNA SEQ - - MDC 16216942-con PubMed: Di Blasi 2005 - - no Italy - - 0 - - 1 Johan den Dunnen
-/. 2 c.156C>T r.(?) p.(=) Unknown - benign g.129371106C>T g.129049961C>T - - LAMA2_000153 - from website {DBsub-Emory} - rs1140366 Germline - - - 0 - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. 2 c.156C>T r.(?) p.(Ile52=) Unknown - benign g.129371106C>T g.129049961C>T LAMA2(NM_000426.3):c.156C>T (p.I52=) - LAMA2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.156C>T r.(?) p.(Ile52=) Unknown - benign g.129371106C>T g.129049961C>T LAMA2(NM_000426.3):c.156C>T (p.I52=) - LAMA2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 2 c.156C>T r.(?) p.(=) Unknown ACMG benign g.129371106C>T g.129049961C>T - - LAMA2_000153 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.164del r.(?) p.(Asn55Metfs*16) Parent #1 - likely pathogenic (recessive) g.129371114del g.129049969del - - LAMA2_000232 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA PCR, SEQ - - MDC ? - - M - Canada French Canadian - 0 - - 1 Tom Winder
+?/+? 2 c.164del r.(?) p.(Asn55Metfs*16) Unknown ACMG likely pathogenic (recessive) g.129371114del g.129049969del - - LAMA2_000232 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.164del r.(?) p.(Asn55Metfs*16) Both (homozygous) ACMG pathogenic g.129371114del g.129049969del c.164delA - LAMA2_000232 ACMG PVS1, PM2, PP3 PubMed: Özyilmaz 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - CMD gene panel MDC Pat34 PubMed: Özyilmaz 2019 - M - Turkey - - 0 - - 1 Johan den Dunnen
?/. 2 c.176G>A r.(?) p.(Gly59Glu) Parent #1 - VUS g.129371126G>A g.129049981G>A - - LAMA2_000709 - PubMed: Ganapathy 2019 - rs748303070 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-4928 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
?/. 2 c.184G>T r.(?) p.(Gly62*) Unknown - VUS g.129371134G>T g.129049989G>T - - LAMA2_000315 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+?/+? 2 c.184G>T r.(?) p.(Gly62*) Unknown ACMG likely pathogenic (recessive) g.129371134G>T g.129049989G>T - - LAMA2_000315 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.184G>T r.(?) p.(Gly62*) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.236G>A r.(?) p.(Arg79Lys) Unknown - VUS g.129371186G>A - - - LAMA2_000726 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.245A>T r.(?) p.(Gln82Leu) Unknown ACMG VUS g.129371195A>T g.129050050A>T - - LAMA2_000491 PolyPhen-2 score 0.99 (probably pathogenic) - - - Germline ? - - 0 - DNA SEQ - - MDC 84038 - - F ? Germany - - 0 - - 1 Andreas Laner
?/? 2 c.245A>T r.(?) p.(Gln82Leu) Unknown ACMG VUS g.129371195A>T g.129050050A>T - - LAMA2_000491 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.(247T>C) r.(247u>c) p.Cys83Arg Both (homozygous) - pathogenic (recessive) g.129371197T>C g.129050052T>C - - LAMA2_000413 animal model PubMed: Patton 2008 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC ? PubMed: Patton 2008 nmf417 mouse model - - - - - 0 - - 1 Johan den Dunnen
+/+ 2 c.(247T>C) r.(?) p.(Cys83Arg) Unknown ACMG pathogenic (recessive) g.129371197T>C g.129050052T>C - - LAMA2_000413 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.250C>T r.(?) p.(Arg84Ter) Parent #1 - pathogenic g.129371200C>T g.129050055C>T - - LAMA2_000710 - PubMed: Ganapathy 2019 - rs868019991 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-4167 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-/. 2 c.255C>T r.(?) p.(Ile85=) Unknown - benign g.129371205C>T g.129050060C>T LAMA2(NM_000426.3):c.255C>T (p.I85=) - LAMA2_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 2 c.255C>T r.(?) p.(Ile85=) Unknown - likely benign g.129371205C>T g.129050060C>T LAMA2(NM_000426.3):c.255C>T (p.I85=) - LAMA2_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 2 c.255C>T r.(?) p.(=) Unknown ACMG likely benign g.129371205C>T g.129050060C>T - - LAMA2_000497 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.257G>A r.(?) p.(Cys86Tyr) Parent #1 - VUS g.129371207G>A g.129050062G>A - - LAMA2_000007 - Subm. FMuntoni - - Germline - - - 0 - DNA SEQ - - ? ? Subm. FMuntoni ICSM - - - - - 0 - - 1 Johan den Dunnen
?/? 2 c.257G>A r.(?) p.(Cys86Tyr) Unknown ACMG VUS g.129371207G>A g.129050062G>A - - LAMA2_000007 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.277C>A r.(?) p.(Pro93Thr) Unknown - VUS g.129371227C>A g.129050082C>A - - LAMA2_000542 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.277C>A r.(?) p.(Pro93Thr) Unknown ACMG VUS g.129371227C>A g.129050082C>A - - LAMA2_000542 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.283C>T r.283c>u p.Gln95* Parent #1 - pathogenic (recessive) g.129371233C>T g.129050088C>T - - LAMA2_000136 - PubMed: Di Blasi 2005 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC 16216942-Pat1 PubMed: Di Blasi 2005 - F - Tunisia - >24m 0 - - 1 Johan den Dunnen
+/. 2 c.283C>T r.283c>u p.Gln95* Parent #2 - pathogenic (recessive) g.129371233C>T g.129050088C>T - - LAMA2_000136 - PubMed: Di Blasi 2005 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC 16216942-Pat1 PubMed: Di Blasi 2005 - F - Tunisia - >24m 0 - - 1 Johan den Dunnen
+/. 2 c.283C>T r.(?) p.(Gln95*) Paternal (confirmed) - pathogenic (recessive) g.129371233C>T g.129050088C>T - - LAMA2_000136 - PubMed: Xiong 2014 - - Germline - - - 0 - DNA SEQ - - MDC 24611677-Pat7 PubMed: Xiong 2014 - M - China - >05y 0 - - 1 Jorge Oliveira
+/+ 2 c.283C>T r.(?) p.(Gln95*) Unknown ACMG pathogenic (recessive) g.129371233C>T g.129050088C>T - - LAMA2_000136 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i c.(283+1G>A) r.spl? p.(Val78_Gln132del) Both (homozygous) - NA g.129371234G>A g.129050089G>A - - LAMA2_000000 - PubMed: Hu 1994 - - In vitro (cloned) - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC ? PubMed: Hu 1994 dy2J mouse model - - - - - 0 - - 1 Johan den Dunnen
+/+ 2i c.(283+1G>A) r.spl p.(Val78_Gln132del) Unknown ACMG pathogenic (recessive) g.129371234G>A g.129050089G>A - - LAMA2_000000 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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