Full data view for gene LRP1B

Information The variants shown are described using the NM_018557.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_32i c.(?_-972)_(5359+1_5360-7704)delins r.? p.? Unknown - pathogenic (dominant) g.(141541511_141571225)_qterins[NC_000021.8:g.(38856939_38858455)_qter] g.(140783942_140813656)_qterdelins[NC_000021.9:g.(37484637_37486153)_qter] breakpoint 141257981-141287695 (hg18) 46,XX,t(2;21)(q22;q22) LRP1B_000046 breakpoint mapped to intron 39 LRP1B and intron 6 DYRK1A PubMed: Moller 2008 - - De novo - - - - - DNA arrayCGH, FISH, microscope - - microcephaly Pat2 PubMed: Moller 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - 1 Johan den Dunnen
?/. - c.193T>A r.(?) p.(Ser65Thr) Unknown - VUS g.142567860A>T g.141810291A>T LRP1B(NM_018557.2):c.193T>A (p.S65T) - LRP1B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1251T>C r.(?) p.(Tyr417=) Unknown - likely benign g.141816609A>G g.141059040A>G LRP1B(NM_018557.2):c.1251T>C (p.Y417=) - LRP1B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1553-5T>C r.spl? p.? Unknown - VUS g.141806796A>G g.141049227A>G LRP1B(NM_018557.2):c.1553-5T>C (p.?) - LRP1B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1860T>C r.(?) p.(His620=) Unknown - likely benign g.141777601A>G - LRP1B(NM_018557.2):c.1860T>C (p.H620=) - LRP1B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2056C>T r.(?) p.(Arg686Trp) Unknown - VUS g.141773399G>A g.141015830G>A LRP1B(NM_018557.2):c.2056C>T (p.(Arg686Trp)) - LRP1B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2210A>G r.(?) p.(Glu737Gly) Unknown - likely benign g.141771295T>C - LRP1B(NM_018557.2):c.2210A>G (p.(Glu737Gly)) - LRP1B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2813G>A r.(?) p.(Arg938His) Unknown - likely pathogenic g.141739803C>T g.140982234C>T NM_018557.2(LRP1B):c.2813G>A p.(Arg938His) - LRP1B_000003 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-125A 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
?/. - c.3137A>G r.(?) p.(Glu1046Gly) Unknown - VUS g.141680716T>C - LRP1B(NM_018557.3):c.3137A>G (p.(Glu1046Gly)) - LRP1B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3162C>T r.(?) p.(Asn1054=) Unknown - likely benign g.141680691G>A g.140923122G>A LRP1B(NM_018557.2):c.3162C>T (p.N1054=) - LRP1B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4064A>G r.(?) p.(Asn1355Ser) Both (homozygous) - VUS g.141641491T>C g.140883922T>C - - LRP1B_000001 - PubMed: Dusi 2014 - - Germline - - - - - DNA SEQ - - NBIA1 - PubMed: Dusi 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs F yes Italy - - - - - 1 Marianne Vos (LOVD-team)
-/. - c.4170-3dup r.spl? p.? Unknown - benign g.141625853dup - LRP1B(NM_018557.3):c.4170-3dupT - LRP1B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4476G>A r.(?) p.(Leu1492=) Unknown - likely benign g.141625262C>T - LRP1B(NM_018557.2):c.4476G>A (p.L1492=) - LRP1B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5131G>A r.(?) p.(Asp1711Asn) Unknown - VUS g.141597638C>T - LRP1B(NM_018557.2):c.5131G>A (p.(Asp1711Asn)) - LRP1B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5948A>G r.(?) p.(Asn1983Ser) Unknown - VUS g.141473617T>C g.140716048T>C LRP1B(NM_018557.2):c.5948A>G (p.N1983S) - LRP1B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5951G>C r.(?) p.(Gly1984Ala) Unknown - VUS g.141473614C>G - LRP1B(NM_018557.2):c.5951G>C (p.(Gly1984Ala)) - LRP1B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7366G>A r.(?) p.(Val2456Ile) Unknown - VUS g.141299369C>T g.140541800C>T LRP1B(NM_018557.2):c.7366G>A (p.V2456I, p.(Val2456Ile)) - LRP1B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7366G>A r.(?) p.(Val2456Ile) Unknown - VUS g.141299369C>T - LRP1B(NM_018557.2):c.7366G>A (p.V2456I, p.(Val2456Ile)) - LRP1B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7420G>A r.(?) p.(Gly2474Ser) Unknown - likely benign g.141298635C>T - LRP1B(NM_018557.2):c.7420G>A (p.(Gly2474Ser)) - LRP1B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7514-7C>T r.(=) p.(=) Unknown - likely benign g.141294285G>A g.140536716G>A LRP1B(NM_018557.2):c.7514-7C>T (p.(=)) - LRP1B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7688G>A r.(?) p.(Arg2563His) Unknown - VUS g.141291664C>T g.140534095C>T LRP1B(NM_018557.2):c.7688G>A (p.R2563H) - LRP1B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7969T>C r.(?) p.(Trp2657Arg) Unknown - VUS g.141283470A>G g.140525901A>G LRP1B(NM_018557.2):c.7969T>C (p.(Trp2657Arg)) - LRP1B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8029C>A r.(?) p.(Gln2677Lys) Unknown - likely benign g.141274578G>T g.140517009G>T LRP1B(NM_018557.2):c.8029C>A (p.Q2677K) - LRP1B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8330G>A r.(?) p.(Arg2777Gln) Unknown - likely benign g.141267565C>T - LRP1B(NM_018557.2):c.8330G>A (p.R2777Q) - LRP1B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9107C>T r.(?) p.(Thr3036Ile) Unknown - VUS g.141250190G>A g.140492621G>A LRP1B(NM_018557.2):c.9107C>T (p.(Thr3036Ile)) - LRP1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9467G>C r.(?) p.(Gly3156Ala) Unknown - VUS g.141232865C>G - LRP1B(NM_018557.3):c.9467G>C (p.(Gly3156Ala)) - LRP1B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.10481G>A r.(?) p.(Arg3494Gln) Unknown - likely pathogenic g.141143512C>T g.140385943C>T NM_018557.2(LRP1B):c.10481G>A p.(Arg3494Gln) - LRP1B_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-164A 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
?/. - c.11816C>G r.(?) p.(Thr3939Ser) Unknown - VUS g.141108442G>C g.140350873G>C LRP1B(NM_018557.2):c.11816C>G (p.(Thr3939Ser)) - LRP1B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11881A>G r.(?) p.(Ser3961Gly) Unknown - likely benign g.141108377T>C - LRP1B(NM_018557.2):c.11881A>G (p.S3961G) - LRP1B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11966C>T r.(?) p.(Ser3989Phe) Unknown - VUS g.141093334G>A - LRP1B(NM_018557.3):c.11966C>T (p.(Ser3989Phe)) - LRP1B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.12283A>G r.(?) p.(Ile4095Val) Unknown - VUS g.141083388T>C - LRP1B(NM_018557.2):c.12283A>G (p.I4095V) - LRP1B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.13022G>C r.(?) p.(Gly4341Ala) Unknown - likely pathogenic g.141032113C>G g.140274544C>G NM_018557.2(LRP1B):c.13022G>C p.(Gly4341Ala) - LRP1B_000004 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-120A 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
-?/. - c.13114A>T r.(?) p.(Asn4372Tyr) Unknown - likely benign g.141032021T>A - LRP1B(NM_018557.3):c.13114A>T (p.(Asn4372Tyr)) - LRP1B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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