Full data view for gene LAMB2

Information The variants shown are described using the NM_002292.3 transcript reference sequence.

267 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
?/? 1 c.-1925G>C r.(?) p.(=) - Unknown - VUS g.49172225C>G g.49134792C>G - - LAMB2_000002 - - - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
?/? 1 c.-408_-404delTAGTT r.(?) p.(=) - Unknown - VUS g.49170704_49170708del g.49133271_49133275del -404_408delTAGTT - LAMB2_000003 - - - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
?/? 1 c.-165C>A r.(?) p.(=) - Unknown - VUS g.49170465G>T g.49133032G>T - - LAMB2_000001 - - - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+?/? 1_32 c.? r.(?) p.? - Parent #2 - likely pathogenic g.? - - - LAMB2_000000 unknown variant 2nd chromosome - - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/. - c.55C>T r.(?) p.(Arg19Ter) - Unknown - pathogenic g.49170246G>A g.49132813G>A - - LAMB2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.101C>A r.(?) p.(Ala34Asp) - Unknown - likely benign g.49170072G>T - LAMB2(NM_002292.3):c.101C>A (p.A34D) - LAMB2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.109C>G r.(?) p.(Pro37Ala) - Unknown - VUS g.49170064G>C g.49132631G>C - - LAMB2_000005 - - - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
-?/. - c.109C>G r.(?) p.(Pro37Ala) - Unknown - likely benign g.49170064G>C - LAMB2(NM_002292.3):c.109C>G (p.P37A, p.(Pro37Ala)), LAMB2(NM_002292.4):c.109C>G (p.P37A) - LAMB2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109C>G r.(?) p.(Pro37Ala) - Unknown - likely benign g.49170064G>C - LAMB2(NM_002292.3):c.109C>G (p.P37A, p.(Pro37Ala)), LAMB2(NM_002292.4):c.109C>G (p.P37A) - LAMB2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109C>G r.(?) p.(Pro37Ala) - Unknown - likely benign g.49170064G>C - LAMB2(NM_002292.3):c.109C>G (p.P37A, p.(Pro37Ala)), LAMB2(NM_002292.4):c.109C>G (p.P37A) - LAMB2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.235_237del r.(?) p.(Val79del) - Parent #1 - pathogenic g.49169938_49169940del g.49132505_49132507del - - LAMB2_000006 - PubMed: Matejas 2006 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - family with 7 affecteds - - - - - - - - 5 Martin Zenker, Prof. Dr. med.
+/? 2 c.235_237del r.(?) p.(Val79del) - Parent #1 - pathogenic g.49169938_49169940del g.49132505_49132507del - - LAMB2_000006 - PubMed: Matejas 2006 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - family with 7 affecteds - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 2 c.235_237del r.(?) p.(Val79del) - Parent #1 - pathogenic g.49169938_49169940del g.49132505_49132507del - - LAMB2_000006 - PubMed: Matejas 2006 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - family with 7 affecteds - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 2 c.240T>G r.(?) p.(Ser80Arg) - Parent #1 - pathogenic g.49169933A>C g.49132500A>C - - LAMB2_000007 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 2 c.240T>G r.(?) p.(Ser80Arg) - Parent #2 - pathogenic g.49169933A>C g.49132500A>C - - LAMB2_000007 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
-/? 3i c.250-97A>G r.(=) p.(=) - Unknown - benign g.49169935T>C - - - LAMB2_000010 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
-/. - c.261G>A r.(?) p.(Lys87=) - Unknown - benign g.49169827C>T g.49132394C>T LAMB2(NM_002292.4):c.261G>A (p.K87=) - LAMB2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.261G>A r.(?) p.(Lys87=) - Unknown - benign g.49169827C>T g.49132394C>T LAMB2(NM_002292.4):c.261G>A (p.K87=) - LAMB2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.280C>T r.(?) p.(Arg94Trp) - Unknown - likely pathogenic g.49169808G>A g.49132375G>A - - LAMB2_000095 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Unknown - - - - - DNA SEQ, SEQ-NG-I - - NPHS - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - - - - 1 Elisabet Ars Criach
-/. - c.306C>T r.(?) p.(Asn102=) - Unknown - benign g.49169782G>A g.49132349G>A LAMB2(NM_002292.3):c.306C>T, LAMB2(NM_002292.4):c.306C>T (p.(Asn102=), p.N102=) - LAMB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.306C>T r.(?) p.(Asn102=) - Unknown - benign g.49169782G>A g.49132349G>A LAMB2(NM_002292.3):c.306C>T, LAMB2(NM_002292.4):c.306C>T (p.(Asn102=), p.N102=) - LAMB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 3 c.306C>T r.(?) p.(=) - Unknown - benign g.49169782G>A g.49132349G>A - - LAMB2_000008 - - - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
-?/. - c.306C>T r.(?) p.(Asn102=) - Unknown - likely benign g.49169782G>A - LAMB2(NM_002292.3):c.306C>T, LAMB2(NM_002292.4):c.306C>T (p.(Asn102=), p.N102=) - LAMB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307C>A r.(?) p.(Pro103Thr) - Unknown - likely benign g.49169781G>T - LAMB2(NM_002292.3):c.307C>A (p.P103T) - LAMB2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330T>C r.(?) p.(=) - Unknown - likely benign g.49169758A>G - LAMB2(NM_002292.4):c.330T>C (p.(Asn110=)) - LAMB2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.373C>T r.(?) p.(Gln125*) - Parent #1 - pathogenic g.49169715G>A g.49132282G>A - - LAMB2_000009 - PubMed: Bredrup 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 4 c.416T>C r.(?) p.(Leu139Pro) - Parent #1 - pathogenic g.49169592A>G g.49132159A>G - - LAMB2_000011 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 4 c.416T>C r.(?) p.(Leu139Pro) - Parent #2 - pathogenic g.49169592A>G g.49132159A>G - - LAMB2_000011 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 4 c.416T>C r.(?) p.(Leu139Pro) - Parent #1 - pathogenic g.49169592A>G g.49132159A>G - - LAMB2_000011 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 4 c.416T>C r.(?) p.(Leu139Pro) - Parent #2 - pathogenic g.49169592A>G g.49132159A>G - - LAMB2_000011 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 4 c.416T>C r.(?) p.(Leu139Pro) - Parent #1 - pathogenic g.49169592A>G g.49132159A>G - - LAMB2_000011 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 4 c.416T>C r.(?) p.(Leu139Pro) - Parent #2 - pathogenic g.49169592A>G g.49132159A>G - - LAMB2_000011 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 4 c.447_449del r.(?) p.(Ile149del) - Parent #1 - pathogenic g.49169561_49169563del g.49132128_49132130del - - LAMB2_000012 - PubMed: Bredrup 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 5 c.499G>T r.(?) p.(Asp167Tyr) - Parent #1 - pathogenic g.49169117C>A g.49131684C>A - - LAMB2_000013 - PubMed: Kagan 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - family with 2 affecteds - - - - - - - - 2 Martin Zenker, Prof. Dr. med.
+/? 5 c.499G>T r.(?) p.(Asp167Tyr) - Parent #2 - pathogenic g.49169117C>A g.49131684C>A - - LAMB2_000013 - PubMed: Kagan 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - family with 2 affecteds - - - - - - - - 2 Martin Zenker, Prof. Dr. med.
-?/. - c.510C>T r.(?) p.(Arg170=) - Unknown - likely benign g.49169106G>A - LAMB2(NM_002292.3):c.510C>T (p.R170=), LAMB2(NM_002292.4):c.510C>T (p.(Arg170=), p.R170=) - LAMB2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.510C>T r.(?) p.(Arg170=) - Unknown - likely benign g.49169106G>A - LAMB2(NM_002292.3):c.510C>T (p.R170=), LAMB2(NM_002292.4):c.510C>T (p.(Arg170=), p.R170=) - LAMB2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.510C>T r.(?) p.(Arg170=) - Unknown - benign g.49169106G>A - LAMB2(NM_002292.3):c.510C>T (p.R170=), LAMB2(NM_002292.4):c.510C>T (p.(Arg170=), p.R170=) - LAMB2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.536C>T r.(?) p.(Ser179Phe) - Parent #1 - pathogenic g.49169080G>A g.49131647G>A - - LAMB2_000014 - PubMed: Choi 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
-?/. - c.648+19G>T r.(=) p.(=) - Unknown - likely benign g.49168949C>A - LAMB2(NM_002292.4):c.648+19G>T - LAMB2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 7 c.736C>T r.(?) p.(Arg246Trp) - Parent #1 - pathogenic g.49168562G>A g.49131129G>A - - LAMB2_000015 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 7 c.736C>T r.(?) p.(Arg246Trp) - Parent #1 - pathogenic g.49168562G>A g.49131129G>A - - LAMB2_000015 - PubMed: Bredrup 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 7 c.736C>T r.(?) p.(Arg246Trp) - Parent #2 - pathogenic g.49168562G>A g.49131129G>A - - LAMB2_000015 - PubMed: Bredrup 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 7 c.736C>T r.(?) p.(Arg246Trp) - Parent #1 - pathogenic g.49168562G>A g.49131129G>A - - LAMB2_000015 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - family with 5 affecteds - - - - - - - - 5 Martin Zenker, Prof. Dr. med.
+/? 7 c.736C>T r.(?) p.(Arg246Trp) - Parent #2 - pathogenic g.49168562G>A g.49131129G>A - - LAMB2_000015 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - family with 5 affecteds - - - - - - - - 5 Martin Zenker, Prof. Dr. med.
+/? 7 c.736C>T r.(?) p.(Arg246Trp) - Parent #1 - pathogenic g.49168562G>A g.49131129G>A - - LAMB2_000015 - PubMed: Zenker 2004, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - yes Portugal - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 7 c.736C>T r.(?) p.(Arg246Trp) - Parent #2 - pathogenic g.49168562G>A g.49131129G>A - - LAMB2_000015 - PubMed: Zenker 2004, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - yes Portugal - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 7 c.736C>T r.(?) p.(Arg246Trp) - Parent #1 - pathogenic g.49168562G>A g.49131129G>A - - LAMB2_000015 - PubMed: Zenker 2004, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - yes Portugal - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 7 c.736C>T r.(?) p.(Arg246Trp) - Parent #2 - pathogenic g.49168562G>A g.49131129G>A - - LAMB2_000015 - PubMed: Zenker 2004, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - yes Portugal - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 7 c.736C>T r.(?) p.(Arg246Trp) - Parent #1 - pathogenic g.49168562G>A g.49131129G>A - - LAMB2_000015 - PubMed: Bredrup 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 7 c.736C>T r.(?) p.(Arg246Trp) - Parent #1 - pathogenic g.49168562G>A g.49131129G>A - - LAMB2_000015 - PubMed: Bredrup 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 7 c.737G>A r.(?) p.(Arg246Gln) - Parent #1 - pathogenic g.49168561C>T g.49131128C>T - - LAMB2_000016 - PubMed: Hasselbacher 2006, OMIM:var0006 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - yes Turkey - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 7 c.737G>A r.(?) p.(Arg246Gln) - Parent #2 - pathogenic g.49168561C>T g.49131128C>T - - LAMB2_000016 - PubMed: Hasselbacher 2006, OMIM:var0006 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - yes Turkey - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 7 c.737G>A r.(?) p.(Arg246Gln) - Parent #1 - pathogenic g.49168561C>T g.49131128C>T - - LAMB2_000016 - PubMed: Hasselbacher 2006, OMIM:var0006 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - yes Turkey - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 7 c.737G>A r.(?) p.(Arg246Gln) - Parent #2 - pathogenic g.49168561C>T g.49131128C>T - - LAMB2_000016 - PubMed: Hasselbacher 2006, OMIM:var0006 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - yes Turkey - - - - - 1 Martin Zenker, Prof. Dr. med.
-?/. - c.816T>C r.(?) p.(Tyr272=) - Unknown - likely benign g.49168482A>G - LAMB2(NM_002292.3):c.816T>C (p.Y272=), LAMB2(NM_002292.4):c.816T>C (p.Y272=) - LAMB2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.816T>C r.(?) p.(Tyr272=) - Unknown - likely benign g.49168482A>G - LAMB2(NM_002292.3):c.816T>C (p.Y272=), LAMB2(NM_002292.4):c.816T>C (p.Y272=) - LAMB2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 7 c.825T>A r.(?) p.(Tyr275*) - Parent #1 - pathogenic g.49168473A>T g.49131040A>T - - LAMB2_000017 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - family with 2 affecteds - - - - - - - - 2 Martin Zenker, Prof. Dr. med.
+/? 7 c.825T>A r.(?) p.(Tyr275*) - Parent #2 - pathogenic g.49168473A>T g.49131040A>T - - LAMB2_000017 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - family with 2 affecteds - - - - - - - - 2 Martin Zenker, Prof. Dr. med.
?/. - c.942C>A r.(?) p.(His314Gln) - Unknown - VUS g.49168267G>T - LAMB2(NM_002292.4):c.942C>A (p.(His314Gln)) - LAMB2_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.961T>C r.(?) p.(Cys321Arg) - Paternal (confirmed) - pathogenic g.49168248A>G g.49130815A>G - - LAMB2_000019 - PubMed: Hasselbacher 2006, OMIM:var0008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - Germany - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 8 c.961T>C r.(?) p.(Cys321Arg) - Paternal (confirmed) - pathogenic g.49168248A>G g.49130815A>G - - LAMB2_000019 - PubMed: Hasselbacher 2006, OMIM:var0008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - Germany - - - - - 1 Martin Zenker, Prof. Dr. med.
+?/. - c.961T>C r.(?) p.(Cys321Arg) - Unknown - likely pathogenic g.49168248A>G - - - LAMB2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 8 c.1014C>T r.(?) p.(=) - Unknown - benign g.49168195G>A g.49130762G>A - - LAMB2_000018 - - - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
?/. - c.1036+5G>T r.spl? p.? - Unknown - VUS g.49168168C>A - - - LAMB2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8i c.1036+6_1036+9del r.spl? p.(=) - Parent #1 - pathogenic g.49168171_49168174del g.49130738_49130741del 1036+6_9delTGAG - LAMB2_000020 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 8i c.1036+6_1036+9del r.spl? p.(=) - Parent #2 - pathogenic g.49168171_49168174del g.49130738_49130741del 1036+6_9delTGAG - LAMB2_000020 - M.Zenker submitted - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 9 c.1122T>A r.(?) p.(Cys374*) - Paternal (inferred) - pathogenic g.49167767A>T g.49130334A>T - - LAMB2_000021 - Zenker [2005], OMIM:var0005 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 9 c.1122T>A r.(?) p.(Cys374*) - Paternal (inferred) - pathogenic g.49167767A>T g.49130334A>T - - LAMB2_000021 - Zenker [2005], OMIM:var0005 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
?/? 9 c.1193C>T r.(?) p.(Thr398Ile) - Unknown - VUS g.49167696G>A g.49130263G>A - - LAMB2_000022 - - - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
-?/. - c.1193C>T r.(?) p.(Thr398Ile) - Parent #1 - likely benign g.49167696G>A g.49130263G>A - - LAMB2_000022 - PubMed: Abid 2018, Journal: Abid 2018 - rs77500937 Germline - - - - - DNA SEQ - panel LAMB2, WT1, NPHS1, NPHS2 NPHS NS134 PubMed: Abid 2018, Journal: Abid 2018 no family history F - Pakistan - - - - - 1 Aiysha Abid
-?/. - c.1193C>T r.(?) p.(Thr398Ile) - Unknown - likely benign g.49167696G>A - LAMB2(NM_002292.4):c.1193C>T (p.T398I) - LAMB2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1205G>A r.(?) p.(Arg402Gln) - Unknown - VUS g.49167684C>T g.49130251C>T LAMB2(NM_002292.3):c.1205G>A (p.R402Q) - LAMB2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1206G>A r.(?) p.(Arg402=) - Unknown - likely benign g.49167683C>T - LAMB2(NM_002292.3):c.1206G>A (p.R402=) - LAMB2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 10 c.1241_1242dup r.(?) p.(Met415Profs*83) - Parent #1 - pathogenic g.49167437_49167438dup g.49130004_49130005dup - - LAMB2_000023 - PubMed: Wühl 2007 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 10 c.1252C>T r.(?) p.(Gln418*) - Parent #2 - pathogenic g.49167425G>A g.49129992G>A - - LAMB2_000024 - PubMed: Wühl 2007 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
-?/. - c.1306G>A r.(?) p.(Gly436Ser) - Unknown - likely benign g.49167371C>T - LAMB2(NM_002292.4):c.1306G>A (p.G436S) - LAMB2_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 10 c.1403G>T r.(?) p.(Arg468Leu) - Unknown - VUS g.49167274C>A g.49129841C>A - - LAMB2_000025 - - - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 10i c.1405+1G>A r.spl? p.(=) - Parent #1 - pathogenic g.49167271C>T g.49129838C>T p.(S409X) - LAMB2_000026 - PubMed: Bredrup 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - family with 2 affecteds - - - - - - - - 2 Martin Zenker, Prof. Dr. med.
+/? 10i c.1405+1G>A r.spl? p.(=) - Parent #1 - pathogenic g.49167271C>T g.49129838C>T p.(S409X) - LAMB2_000026 - PubMed: Bredrup 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 10i c.1405+1G>A r.spl? p.(=) - Parent #2 - pathogenic g.49167271C>T g.49129838C>T p.(S409X) - LAMB2_000026 - PubMed: Bredrup 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 11 c.1477del r.(?) p.(Cys493Alafs*4) - Parent #1 - pathogenic g.49167078del g.49129645del - - LAMB2_000027 - PubMed: Wühl 2007 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 11 c.1477del r.(?) p.(Cys493Alafs*4) - Parent #1 - pathogenic g.49167078del g.49129645del - - LAMB2_000027 - PubMed: Wühl 2007 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 11 c.1478del r.(?) p.(Cys493Serfs*4) - Parent #1 - pathogenic g.49167077del g.49129644del - - LAMB2_000028 - PubMed: Maselli 2009, OMIM:var0009 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 11 c.1503_1504del r.(?) p.(Cys502*) - Parent #1 - pathogenic g.49167051_49167052del g.49129618_49129619del - - LAMB2_000029 - PubMed: Choi 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
?/. - c.1559G>A r.(?) p.(Arg520His) - Unknown - VUS g.49166717C>T - LAMB2(NM_002292.3):c.1559G>A (p.R520H), LAMB2(NM_002292.4):c.1559G>A (p.(Arg520His)) - LAMB2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1559G>A r.(?) p.(Arg520His) - Unknown - VUS g.49166717C>T - LAMB2(NM_002292.3):c.1559G>A (p.R520H), LAMB2(NM_002292.4):c.1559G>A (p.(Arg520His)) - LAMB2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1618C>G r.(?) p.(Gln540Glu) - Unknown - VUS g.49166566G>C - LAMB2(NM_002292.4):c.1618C>G (p.Q540E) - LAMB2_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1678T>A r.(?) p.(Phe560Ile) - Parent #1 - pathogenic (recessive) g.49166506A>T g.49129073A>T - - LAMB2_000132 - PubMed: Abid 2018, Journal: Abid 2018 - - Germline - - - - - DNA SEQ - panel LAMB2, WT1, NPHS1, NPHS2 NPHS NS001 PubMed: Abid 2018, Journal: Abid 2018 no family history M - Pakistan - - - - - 1 Aiysha Abid
+/? 13 c.1723C>T r.(?) p.(Arg575*) - Parent #2 - pathogenic g.49166461G>A g.49129028G>A - - LAMB2_000030 - PubMed: Bredrup 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
+/? 13 c.1723C>T r.(?) p.(Arg575*) - Parent #2 - pathogenic g.49166461G>A g.49129028G>A - - LAMB2_000030 - PubMed: Bredrup 2008 - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
-?/. - c.1724G>A r.(?) p.(Arg575Gln) - Unknown - likely benign g.49166460C>T g.49129027C>T LAMB2(NM_002292.4):c.1724G>A (p.(Arg575Gln), p.R575Q) - LAMB2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 13 c.1724G>A r.(?) p.(Arg575Gln) - Unknown - VUS g.49166460C>T g.49129027C>T - - LAMB2_000031 - - - - Unknown - - - - - DNA SEQ - - Pierson syndrome - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
-/. - c.1724G>A r.(?) p.(Arg575Gln) - Parent #1 - benign g.49166460C>T g.49129027C>T - - LAMB2_000031 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61729152 Germline - 6/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
-/. - c.1724G>A r.(?) p.(Arg575Gln) - Unknown - benign g.49166460C>T - LAMB2(NM_002292.4):c.1724G>A (p.(Arg575Gln), p.R575Q) - LAMB2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1762C>G r.(?) p.(Pro588Ala) - Unknown - likely benign g.49166222G>C - LAMB2(NM_002292.4):c.1762C>G (p.P588A) - LAMB2_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1764C>T r.(?) p.(Pro588=) - Unknown - benign g.49166220G>A g.49128787G>A LAMB2(NM_002292.4):c.1764C>T (p.(Pro588=)) - LAMB2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 14 c.1764C>T r.(?) p.(=) - Unknown - benign g.49166220G>A g.49128787G>A - - LAMB2_000032 - - - rs33942096 Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Martin Zenker, Prof. Dr. med.
-/. - c.1764C>T r.(?) p.(Pro588=) - Unknown - benign g.49166220G>A - LAMB2(NM_002292.4):c.1764C>T (p.(Pro588=)) - LAMB2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1862A>G r.(?) p.(Tyr621Cys) - Unknown - likely pathogenic g.49166122T>C g.49128689T>C NM_002292.3(LAMB2):c.1862A>G p.(Tyr621Cys) - LAMB2_000096 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-162A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
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