Full data view for gene LRP12

Information The variants shown are described using the NM_013437.4 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
-/. 1 c.(-100_-74)= GCG[13] r.(?) p.(=) Unknown - benign g.(105601199_105601225)= g.(104588971_104588997)= 13 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000002 - PubMed: Ishiura 2019 - - Germline - 0.03 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
?/. 1 c.(-100_-74)insN[(114_?)] GCG[(51_?)] r.(?) p.(=) Unknown - VUS g.(105601199_105601225)insN[(114_?)] g.(104588971_104588997)insN[(114_?)] - - LRP12_000019 - PubMed: Ishiura 2019 - - Germline - 2/1000 controls - - - DNA PCRrp, Southern - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 2 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Paternal (confirmed) - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 length expanded allele not clearly defined PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - OPDM FamF7967PatIII1 PubMed: Ishiura 2019 3-generation family, 4 affected (F, 3M) M - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Fam2 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Fam3 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Fam4 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Fam5 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo1 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo2 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo3 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo4 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo5 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo6 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo7 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo8 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Fam6 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Fam7 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Fam8 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Fam9 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo9 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo10 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo11 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo12 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-100_-74)insN[(300_?)] GCG[(100_?)] r.(?) p.(=) Unknown - pathogenic (dominant) g.(105601199_105601225)insN[(300_?)] g.(104588971_104588997)insN[(300_?)] - - LRP12_000001 - PubMed: Ishiura 2019 - - Germline - - - - - DNA PCRrp - - OPDM Spo13 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[(69_111)] GCG[(36_50)] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[(69_111)] g.(104588971_104588997)insN[(69_111)] - - LRP12_000018 - PubMed: Ishiura 2019 - - Germline - <0.01 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[12] GCG[17] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[12] g.(104588971_104588997)insN[12] 17 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000005 - PubMed: Ishiura 2019 - - Germline - 0.02 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[15] GCG[18] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[15] g.(104588971_104588997)insN[15] 18 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000006 - PubMed: Ishiura 2019 - - Germline - 0.12 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[18] GCG[19] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[18] g.(104588971_104588997)insN[18] 19 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000007 - PubMed: Ishiura 2019 - - Germline - 0.01 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[21] GCG[20] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[21] g.(104588971_104588997)insN[21] 20 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000008 - PubMed: Ishiura 2019 - - Germline - 0.14 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[24] GCG[21] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[24] g.(104588971_104588997)insN[24] 21 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000009 - PubMed: Ishiura 2019 - - Germline - 0.03 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[27] GCG[22] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[27] g.(104588971_104588997)insN[27] 22 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000010 - PubMed: Ishiura 2019 - - Germline - <0.01 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[30] GCG[23] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[30] g.(104588971_104588997)insN[30] 23 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000011 - PubMed: Ishiura 2019 - - Germline - <0.01 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[33] GCG[24] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[33] g.(104588971_104588997)insN[33] 24 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000012 - PubMed: Ishiura 2019 - - Germline - <0.01 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[36] GCG[25] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[36] g.(104588971_104588997)insN[36] 25 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000013 - PubMed: Ishiura 2019 - - Germline - <0.01 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[39] GCG[26] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[39] g.(104588971_104588997)insN[39] 26 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000014 - PubMed: Ishiura 2019 - - Germline - <0.01 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[3] GCG[14] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[3] g.(104588971_104588997)insN[3] 14 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000020 - PubMed: Ishiura 2019 - - Germline - 0.23 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[42] GCG[27] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[42] g.(104588971_104588997)insN[42] 27 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000015 - PubMed: Ishiura 2019 - - Germline - <0.01 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[45] GCG[28] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[45] g.(104588971_104588997)insN[45] 28 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000016 - PubMed: Ishiura 2019 - - Germline - <0.01 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[57] GCG[32] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[57] g.(104588971_104588997)insN[57] - - LRP12_000017 - PubMed: Ishiura 2019 - - Germline - <0.01 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[6] GCG[15] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[6] g.(104588971_104588997)insN[6] 15 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000003 - PubMed: Ishiura 2019 - - Germline - 0.38 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.(-100_-74)insN[9] GCG[16] r.(?) p.(=) Unknown - benign g.(105601199_105601225)insN[9] g.(104588971_104588997)insN[9] 16 repeat units, (CGG)9(CGT)(CGG)(CGT)2 - LRP12_000004 - PubMed: Ishiura 2019 - - Germline - 0.04 - - - DNA PCRrp - - Healthy/Control control PubMed: Ishiura 2019 analysis 1000 control individuals - - Japan - - - - - 1 Johan den Dunnen
?/. - c.1340del - r.(?) p.(Asn447Thrfs*41) Unknown - VUS g.105509446del - LRP12(NM_013437.4):c.1340del (p.(Asn447Thrfs*41)) - LRP12_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1814G>A - r.(?) p.(Arg605His) Unknown - likely benign g.105503667C>T - LRP12(NM_013437.4):c.1814G>A (p.(Arg605His)) - LRP12_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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