All variants in the LAMB3 gene

Information The variants shown are described using the NM_000228.2 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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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     
?/. - c.67C>T r.(?) p.(Arg23Cys) - VUS g.209823425G>A g.209650080G>A LAMB3(NM_001017402.2):c.67C>T (p.R23C) - LAMB3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.124C>T r.(?) p.(Arg42Ter) - pathogenic g.209823368G>A g.209650023G>A LAMB3(NM_000228.3):c.124C>T (p.R42*) - LAMB3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.124C>T r.(?) p.(Arg42Ter) - pathogenic (dominant) g.209823368G>A g.209650023G>A - - LAMB3_000019 - PubMed: Prasad 2016 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 3 c.138C>T r.(=) p.(=) - likely benign g.209823354G>A - 138 C>T - LAMB3_000042 - PubMed: Hayashi 2004 - - Germline - 10/120 ARM patients and 3/96 controls - - - Julia Lopez
-?/. 3i c.? r.? P.? - likely benign g.? - IVS 3+116 A>C - LAMB3_000033 - PubMed: Hayashi 2004 - - Germline - 2/120 ARM patients and 2/90 controls - - - Julia Lopez
-?/. - c.184-14T>A r.(=) p.(=) - likely benign g.209812007A>T g.209638662A>T LAMB3(NM_001017402.2):c.184-14T>A - LAMB3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.281G>A r.(?) p.(Trp94Ter) - pathogenic g.209811896C>T g.209638551C>T LAMB3(NM_001017402.2):c.281G>A (p.W94*) - LAMB3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.291A>C r.(?) p.(Ser97=) - benign g.209811886T>G g.209638541T>G LAMB3(NM_001017402.2):c.291A>C (p.S97=) - LAMB3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.384C>T r.(?) p.(Pro128=) - benign g.209807972G>A g.209634627G>A LAMB3(NM_001017402.2):c.384C>T (p.P128=) - LAMB3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 6 c.? r.? P.? - likely benign g.? - 384T>C - LAMB3_000033 - PubMed: Hayashi 2004 - - Germline - 4/146 ARM patients and 3/182 controls - - - Julia Lopez
+/. - c.511_512del r.(?) p.(Val171SerfsTer10) - pathogenic g.209807845_209807846del g.209634500_209634501del LAMB3(NM_001017402.2):c.511_512delGT (p.V171Sfs*10) - LAMB3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 6 c.541A>G r.(?) p.(Asn181Asp) - likely benign g.209807815T>C - 541 A>G - LAMB3_000041 - PubMed: Hayashi 2004 - - Germline - 4/146 ARM patients and 3/182 controls - - - Julia Lopez
-?/. 6i c.564+10G>A r.(=) p.(=) - likely benign g.209807782C>T - IVS 6+10 G>A - LAMB3_000040 - PubMed: Hayashi 2004 - - Germline - 3/146 ARM patients and 3/182 controls - - - Julia Lopez
-?/. 7i c.628+143G>A r.(=) p.(=) - likely benign g.209806272C>T - IVS 7+143 G>A - LAMB3_000039 - PubMed: Hayashi 2004 - - Germline - 13/122 ARM patients and 6/62 controls - - - Julia Lopez
+/. - c.727C>T r.(?) p.(Gln243Ter) - pathogenic g.209806023G>A g.209632678G>A LAMB3(NM_000228.3):c.727C>T (p.Q243*), LAMB3(NM_001017402.1):c.727C>T (p.Q243*) - LAMB3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.727C>T r.(?) p.(Gln243Ter) - pathogenic g.209806023G>A g.209632678G>A LAMB3(NM_000228.3):c.727C>T (p.Q243*), LAMB3(NM_001017402.1):c.727C>T (p.Q243*) - LAMB3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.778G>A r.(?) p.(Ala260Thr) - likely benign g.209805972C>T g.209632627C>T LAMB3(NM_001017402.2):c.778G>A (p.A260T) - LAMB3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.786del r.(?) p.(Lys262Asnfs*134) - pathogenic g.209805964del - LAMB3(NM_000228.3):c.786delG (p.K262Nfs*134) - LAMB3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 8i c.822+33G>C r.(=) p.(=) - likely benign g.209805895C>G - IVS 8+33 G>C - LAMB3_000038 - PubMed: Hayashi 2004 - - Germline - 20/122 ARM patients and 10/62 controls - - - Julia Lopez
-/. - c.823-15C>T r.(=) p.(=) - benign g.209804095G>A g.209630750G>A LAMB3(NM_001017402.2):c.823-15C>T - LAMB3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.858C>T r.(?) p.(Ala286=) - likely benign g.209804045G>A g.209630700G>A LAMB3(NM_001017402.1):c.858C>T (p.A286=) - LAMB3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.898C>T r.(?) p.(Arg300Trp) - VUS g.209804005G>A g.209630660G>A LAMB3(NM_001017402.1):c.898C>T (p.R300W) - LAMB3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.911C>T r.(?) p.(Pro304Leu) - VUS g.209803992G>A - LAMB3(NM_000228.3):c.911C>T (p.P304L) - LAMB3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.929C>T r.(?) p.(Ala310Val) - likely benign g.209803974G>A - LAMB3(NM_001017402.1):c.929C>T (p.A310V) - LAMB3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.958_1034dup r.(?) p.(Asn345LysfsTer77) - pathogenic g.209803180_209803256dup g.209629835_209629911dup LAMB3(NM_001017402.2):c.958_1034dup (p.N345Kfs*77) - LAMB3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1015T>C r.(?) p.(Tyr339His) - VUS g.209803199A>G g.209629854A>G - - LAMB3_000031 73 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs52814161 Germline - 73/2795 individuals - - - Mohammed Faruq
?/. - c.1015T>C r.(?) p.(Tyr339His) - VUS g.209803199A>G g.209629854A>G - - LAMB3_000031 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs52814161 Germline - 2/2795 individuals - - - Mohammed Faruq
+/. - c.1063T>C r.(?) p.(Cys355Arg) - pathogenic g.209803151A>G g.209629806A>G LAMB3(NM_001017402.2):c.1063T>C (p.C355R) - LAMB3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1070G>A r.(?) p.(Arg357Gln) - VUS g.209803144C>T g.209629799C>T LAMB3(NM_001017402.2):c.1070G>A (p.R357Q) - LAMB3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1099C>A r.(?) p.(Arg367Ser) - VUS g.209803115G>T - LAMB3(NM_000228.3):c.1099C>A (p.R367S) - LAMB3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 10i c.? r.? P.? - likely benign g.? - IVS 10-33 T>C - LAMB3_000033 - PubMed: Hayashi 2004 - - Germline - 4/122 ARM patients and 1/56 controls - - - Julia Lopez
-/. - c.1149G>A r.(=) p.(=) - benign g.209801519C>T g.209628174C>T - - LAMB3_000030 142 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2076351 Germline - 142/2793 individuals - - - Mohammed Faruq
-/. - c.1149G>A r.(=) p.(=) - benign g.209801519C>T g.209628174C>T - - LAMB3_000030 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2076351 Germline - 5/2793 individuals - - - Mohammed Faruq
+/. - c.1186_1196del r.(?) p.(Thr396CysfsTer12) - pathogenic g.209801477_209801487del g.209628132_209628142del LAMB3(NM_001017402.2):c.1186_1196delACCGGGCAGTG (p.T396Cfs*12) - LAMB3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 12i c.1486-18G>A r.(=) p.(=) - likely benign g.209800341C>T - IVS 12-18 G>A - LAMB3_000037 - PubMed: Hayashi 2004 - - Germline - 7/138 ARM patients and 3/90 controls - - - Julia Lopez
-?/. 13 c.1579G>A r.(?) p.(Val527Met) - likely benign g.209800230C>T - 1579 G>A - LAMB3_000036 - PubMed: Hayashi 2004 - - Germline - 7/138 ARM patients and 3/90 controls - - - Julia Lopez
?/. - c.1681G>A r.(?) p.(Gly561Arg) - VUS g.209799288C>T g.209625943C>T - - LAMB3_000021 - - - - Germline - - - - - Karine Poirier
?/. - c.1706G>A r.(?) p.(Arg569Gln) - VUS g.209799263C>T g.209625918C>T LAMB3(NM_001017402.2):c.1706G>A (p.R569Q) - LAMB3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1716T>C r.(?) p.(Cys572=) - benign g.209799253A>G g.209625908A>G LAMB3(NM_001017402.2):c.1716T>C (p.C572=) - LAMB3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1823dup r.(?) p.(Ser608ArgfsTer23) - pathogenic g.209799146dup g.209625801dup LAMB3(NM_001017402.2):c.1823dupG (p.S608Rfs*23) - LAMB3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1903C>T r.(?) p.(Arg635Ter) - pathogenic g.209799066G>A g.209625721G>A LAMB3(NM_000228.3):c.1903C>T (p.R635*), LAMB3(NM_001017402.1):c.1903C>T (p.R635*) - LAMB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1903C>T r.(?) p.(Arg635Ter) - pathogenic g.209799066G>A g.209625721G>A LAMB3(NM_000228.3):c.1903C>T (p.R635*), LAMB3(NM_001017402.1):c.1903C>T (p.R635*) - LAMB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1903C>T r.(?) p.(Arg635Ter) - pathogenic g.209799066G>A g.209625721G>A LAMB3(NM_000228.3):c.1903C>T (p.R635*), LAMB3(NM_001017402.1):c.1903C>T (p.R635*) - LAMB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1903C>T r.(?) p.(Arg635Ter) - pathogenic g.209799066G>A - LAMB3(NM_000228.3):c.1903C>T (p.R635*), LAMB3(NM_001017402.1):c.1903C>T (p.R635*) - LAMB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1903C>T r.(?) p.(Arg635Ter) - likely pathogenic (dominant) g.209799066G>A g.209625721G>A - - LAMB3_000005 maternal, asymptomatic PubMed: Prasad 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.1948C>T r.(?) p.(Gln650Ter) - pathogenic g.209799021G>A g.209625676G>A LAMB3(NM_001017402.2):c.1948C>T (p.Q650*) - LAMB3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1978C>T r.(?) p.(Arg660Ter) - pathogenic g.209797344G>A g.209623999G>A LAMB3(NM_001017402.2):c.1978C>T (p.R660*) - LAMB3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 15i c.2137+38dup r.(=) p.(=) - likely benign g.209797147dup - IVS 15+37 insC - LAMB3_000035 - PubMed: Hayashi 2004 - - Germline - 5/122 ARM patients and 0/54 controls - - - Julia Lopez
-?/. - c.2403C>T r.(?) p.(Cys801=) - likely benign g.209796480G>A g.209623135G>A LAMB3(NM_001017402.2):c.2403C>T (p.C801=) - LAMB3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2476G>A r.(?) p.(Gly826Ser) - likely benign g.209796407C>T g.209623062C>T LAMB3(NM_001017402.1):c.2476G>A (p.G826S) - LAMB3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 17i c.? r.? P.? - likely benign g.? - IVS 17+56 T>C - LAMB3_000033 - PubMed: Hayashi 2004 - - Germline - 20/122 ARM patients and 9/62 controls - - - Julia Lopez
-?/. 17i c.2557-42C>G r.(=) p.(=) - likely benign g.209796067G>C - IVS 17-42 C>G - LAMB3_000034 - PubMed: Hayashi 2004 - - Germline - 1/122 ARM patients and 1/56 controls - - - Julia Lopez
?/. - c.2605C>A r.(?) p.(Arg869Ser) - VUS g.209795977G>T g.209622632G>T LAMB3(NM_001017402.1):c.2605C>A (p.R869S) - LAMB3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2625C>T r.(?) p.(Ser875=) - likely benign g.209795957G>A - LAMB3(NM_000228.3):c.2625C>T (p.S875=) - LAMB3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2665C>T r.(?) p.(Arg889Trp) - VUS g.209795917G>A - LAMB3(NM_000228.3):c.2665C>T (p.R889W) - LAMB3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2686C>T r.(?) p.(Arg896Trp) - VUS g.209795896G>A - LAMB3(NM_001017402.1):c.2686C>T (p.R896W) - LAMB3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 18i c.? r.? P.? - likely benign g.? - IVS 18+100 A>C - LAMB3_000033 - PubMed: Hayashi 2004 - - Germline - 5/122 ARM patients and 1/56 controls - - - Julia Lopez
-?/. 18i c.? r.? P.? - likely benign g.? - IVS 18-27 A>G - LAMB3_000033 - PubMed: Hayashi 2004 - - Germline - 0/122 ARM patients and 1/62 controls - - - Julia Lopez
-/. - c.2702-12dup r.(=) p.(=) - benign g.209792016dup g.209618671dup LAMB3(NM_001017402.2):c.2702-12dupG, LAMB3(NM_001017402.2):c.2702-13delTinsTG - CAMK1G_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 18i c.? r.? P.? - likely benign g.? - IVS 18-8 del G - LAMB3_000033 - PubMed: Hayashi 2004 - - Germline - 3/122 ARM patients and 2/56 controls - - - Julia Lopez
?/. - c.2750T>C r.(?) p.(Leu917Pro) - VUS g.209791956A>G g.209618611A>G LAMB3(NM_001017402.2):c.2750T>C (p.L917P) - CAMK1G_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2923G>A r.(?) p.(Ala975Thr) - likely benign g.209791380C>T g.209618035C>T LAMB3(NM_001017402.1):c.2923G>A (p.A975T) - CAMK1G_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2945A>G r.(?) p.(Asp982Gly) - likely benign g.209791358T>C g.209618013T>C LAMB3(NM_000228.3):c.2945A>G (p.D982G), LAMB3(NM_001017402.1):c.2945A>G (p.D982G) - CAMK1G_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2945A>G r.(?) p.(Asp982Gly) - VUS g.209791358T>C - LAMB3(NM_000228.3):c.2945A>G (p.D982G), LAMB3(NM_001017402.1):c.2945A>G (p.D982G) - CAMK1G_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2962C>T r.(?) p.(Arg988Trp) - VUS g.209791341G>A g.209617996G>A - - LAMB3_000029 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229467 Germline - 3/2795 individuals - - - Mohammed Faruq
?/. - c.3191C>T r.(?) p.(Ala1064Val) - VUS g.209790792G>A - LAMB3(NM_001017402.1):c.3191C>T (p.A1064V) - CAMK1G_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3427C>T r.(?) p.(Arg1143Cys) - VUS g.209788708G>A - LAMB3(NM_000228.3):c.3427C>T (p.R1143C) - CAMK1G_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.3501C>A r.(?) p.(Tyr1167Ter) - pathogenic g.209788634G>T g.209615289G>T LAMB3(NM_001017402.2):c.3501C>A (p.Y1167*) - LAMB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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