Full data view for gene DMP1

Information The variants shown are described using the NM_004407.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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     
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.88577645A>G - - - DMP1_000007 - PubMed: Makrythanasis 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Family_1 PubMed: Makrythanasis 2014 family, 2 affected - yes Lebanon - - - - - 2 Johan den Dunnen
+/. - c.31del r.(?) p.(Trp11Glyfs*9) Both (homozygous) - pathogenic (recessive) g.88577675del g.87656523del 31delT - DMP1_000016 - PubMed: Thiele 2020 - - Germline - - - - - DNA SEQ - gene panel HR Pat2 PubMed: Thiele 2020 - M - Germany - - - - - 1 Johan den Dunnen
-?/. - c.159C>T r.(?) p.(Gly53=) Unknown - likely benign g.88580606C>T - DMP1(NM_004407.4):c.159C>T (p.G53=) - DMP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.201T>G r.(?) p.(Ser67Arg) Unknown - VUS g.88583131T>G - DMP1(NM_004407.3):c.201T>G (p.S67R) - DMP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.205A>T r.(?) p.(Ser69Cys) Unknown - benign g.88583135A>T g.87661983A>T DMP1(NM_004407.4):c.205A>T (p.S69C) - DMP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.205A>T r.(?) p.(Ser69Cys) Unknown - benign g.88583135A>T g.87661983A>T DMP1(NM_004407.4):c.205A>T (p.S69C) - DMP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.205A>T r.(?) p.(Ser69Cys) Unknown - VUS g.88583135A>T g.87661983A>T - - DMP1_000001 - PubMed: Ruppe 2011 - rs10019009 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 ? Fam15 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
?/. 6 c.205A>T r.(?) p.(Ser69Cys) Unknown - VUS g.88583135A>T g.87661983A>T - - DMP1_000001 - PubMed: Ruppe 2011 - rs10019009 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 ? Fam6 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
?/. 6 c.205A>T r.(?) p.(Ser69Cys) Unknown - VUS g.88583135A>T g.87661983A>T - - DMP1_000001 contains pathogenic PHEX variant PubMed: Ruppe 2011 - rs10019009 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam10 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
?/. 6 c.205A>T r.(?) p.(Ser69Cys) Unknown - VUS g.88583135A>T g.87661983A>T - - DMP1_000001 contains pathogenic PHEX variant PubMed: Ruppe 2011 - rs10019009 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam41 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
?/. 6 c.205A>T r.(?) p.(Ser69Cys) Unknown - VUS g.88583135A>T g.87661983A>T - - DMP1_000001 contains pathogenic PHEX variant PubMed: Ruppe 2011 - rs10019009 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam35 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
?/. 6 c.205A>T r.(?) p.(Ser69Cys) Unknown - VUS g.88583135A>T g.87661983A>T - - DMP1_000001 contains pathogenic PHEX variant PubMed: Ruppe 2011 - rs10019009 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam37 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
?/. 6 c.205A>T r.(?) p.(Ser69Cys) Unknown - VUS g.88583135A>T g.87661983A>T - - DMP1_000001 - PubMed: Ruppe 2011 - rs10019009 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 ? Fam2 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.205A>T r.(?) p.(Ser69Cys) Parent #1 - likely pathogenic (recessive) g.88583135A>T g.87661983A>T - - DMP1_000001 - PubMed: Thiele 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HR Pat3 PubMed: Thiele 2020 - F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.312C>T r.(?) p.(=) Unknown - likely benign g.88583242C>T - DMP1(NM_004407.4):c.312C>T (p.D104=) - DMP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.313G>A r.(?) p.(Asp105Asn) Unknown - VUS g.88583243G>A - DMP1(NM_004407.4):c.313G>A (p.(Asp105Asn)) - DMP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.403G>T r.(?) p.(Gly135Ter) Unknown - pathogenic g.88583333G>T g.87662181G>T - - DMP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.475C>A r.(?) p.(Gln159Lys) Unknown - VUS g.88583405C>A g.87662253C> - - DMP1_000012 contains pathogenic PHEX variant PubMed: Ruppe 2011 - rs79402270 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam25 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.475C>A r.(?) p.(Gln159Lys) Parent #2 - likely pathogenic (recessive) g.88583405C>A g.87662253C>A - - DMP1_000012 - PubMed: Thiele 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HR Pat3 PubMed: Thiele 2020 - F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.475C>A r.(?) p.(Gln159Lys) Unknown - likely benign g.88583405C>A - DMP1(NM_001079911.2):c.427C>A (p.(Gln143Lys)) - DMP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.625G>A r.(?) p.(Glu209Lys) Unknown - VUS g.88583555G>A - DMP1(NM_004407.4):c.625G>A (p.(Glu209Lys)) - DMP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.674G>A r.(?) p.(Ser225Asn) Unknown - likely benign g.88583604G>A - DMP1(NM_004407.3):c.674G>A (p.S225N) - DMP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.730G>T r.(?) p.(Glu244Ter) Unknown - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ - WES HR - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - - - - 1 Global Variome, with Curator vacancy
-?/. 6 c.753T>A r.(?) p.(Thr251=) Unknown - likely benign g.88583683T>A g.87662531T>A - - DMP1_000013 - PubMed: Ruppe 2011 - - Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 ? Fam40 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.815G>A r.(?) p.(Arg272His) Unknown - likely benign g.88583745G>A - DMP1(NM_001079911.2):c.767G>A (p.(Arg256His)), DMP1(NM_004407.4):c.815G>A (p.R272H) - DMP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.815G>A r.(?) p.(Arg272His) Unknown - likely benign g.88583745G>A - DMP1(NM_001079911.2):c.767G>A (p.(Arg256His)), DMP1(NM_004407.4):c.815G>A (p.R272H) - DMP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844C>A r.(?) p.(Leu282Ile) Unknown - likely benign g.88583774C>A - DMP1(NM_001079911.2):c.796C>A (p.(Leu266Ile)), DMP1(NM_004407.3):c.844C>A (p.L282I) - DMP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844C>A r.(?) p.(Leu282Ile) Unknown - likely benign g.88583774C>A - DMP1(NM_001079911.2):c.796C>A (p.(Leu266Ile)), DMP1(NM_004407.3):c.844C>A (p.L282I) - DMP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 6 c.879T>C r.(?) p.(Ser293=) Unknown - likely benign g.88583809T>C g.87662657T>C - - DMP1_000014 - PubMed: Ruppe 2011 - - Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam27 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.879T>C r.(?) p.(Ser293=) Unknown - likely benign g.88583809T>C - DMP1(NM_004407.4):c.879T>C (p.S293=) - DMP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1009dup r.(?) p.(Ser337Lysfs*3) Unknown - pathogenic g.88583939dup - DMP1(NM_004407.3):c.1009dupA (p.(Ser337fs)), DMP1(NM_004407.4):c.1009dupA (p.S337Kfs*3) - DMP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1009dup r.(?) p.(Ser337Lysfs*3) Unknown - VUS g.88583939dup - DMP1(NM_004407.3):c.1009dupA (p.(Ser337fs)), DMP1(NM_004407.4):c.1009dupA (p.S337Kfs*3) - DMP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1107C>T r.(?) p.(Asp369=) Unknown - likely benign g.88584037C>T - DMP1(NM_004407.3):c.1107C>T (p.D369=), DMP1(NM_004407.4):c.1107C>T (p.D369=) - DMP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1107C>T r.(?) p.(Asp369=) Unknown - likely benign g.88584037C>T - DMP1(NM_004407.3):c.1107C>T (p.D369=), DMP1(NM_004407.4):c.1107C>T (p.D369=) - DMP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1218C>T r.(?) p.(Ser406=) Unknown - benign g.88584148C>T g.87662996C>T DMP1(NM_004407.4):c.1218C>T (p.S406=) - DMP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 6 c.1218C>T r.(?) p.(Ser406=) Unknown - likely benign g.88584148C>T g.87662996C>T - - DMP1_000002 - PubMed: Ruppe 2011 - rs2615498 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam18 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. 6 c.1218C>T r.(?) p.(Ser406=) Unknown - likely benign g.88584148C>T g.87662996C>T - - DMP1_000002 - PubMed: Ruppe 2011 - rs2615498 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 ? Fam33 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. 6 c.1218C>T r.(?) p.(Ser406=) Unknown - likely benign g.88584148C>T g.87662996C>T - - DMP1_000002 - PubMed: Ruppe 2011 - rs2615498 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 ? Fam42 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. 6 c.1218C>T r.(?) p.(Ser406=) Unknown - likely benign g.88584148C>T g.87662996C>T - - DMP1_000002 - PubMed: Ruppe 2011 - rs2615498 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam27 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-/. - c.1230G>A r.(?) p.(Glu410=) Unknown - benign g.88584160G>A g.87663008G>A DMP1(NM_004407.4):c.1230G>A (p.E410=) - DMP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1230G>A r.(?) p.(Glu410=) Unknown - benign g.88584160G>A g.87663008G>A DMP1(NM_004407.4):c.1230G>A (p.E410=) - DMP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 6 c.1230G>A r.(?) p.(Glu410=) Unknown - likely benign g.88584160G>A g.87663008G>A - - DMP1_000003 - PubMed: Ruppe 2011 - rs2615497 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 ? Fam14 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. 6 c.1230G>A r.(?) p.(Glu410=) Unknown - likely benign g.88584160G>A g.87663008G>A - - DMP1_000003 - PubMed: Ruppe 2011 - rs2615497 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 ? Fam33 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. 6 c.1230G>A r.(?) p.(Glu410=) Unknown - likely benign g.88584160G>A g.87663008G>A - - DMP1_000003 - PubMed: Ruppe 2011 - rs2615497 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 ? Fam42 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. 6 c.1230G>A r.(?) p.(Glu410=) Unknown - likely benign g.88584160G>A g.87663008G>A - - DMP1_000003 - PubMed: Ruppe 2011 - rs2615497 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam5 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. 6 c.1230G>A r.(?) p.(Glu410=) Unknown - likely benign g.88584160G>A g.87663008G>A - - DMP1_000003 - PubMed: Ruppe 2011 - rs2615497 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 ? Fam2 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. 6 c.1230G>A r.(?) p.(Glu410=) Unknown - likely benign g.88584160G>A g.87663008G>A - - DMP1_000003 - PubMed: Ruppe 2011 - rs2615497 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam8 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. 6 c.1230G>A r.(?) p.(Glu410=) Unknown - likely benign g.88584160G>A g.87663008G>A - - DMP1_000003 - PubMed: Ruppe 2011 - rs2615497 Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam27 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. 6 c.1255C>T r.(?) p.(Pro419Ser) Unknown - likely benign g.88584185C>T g.87663033C>T - - DMP1_000015 - PubMed: Ruppe 2011 - - Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam8 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.1388A>G r.(?) p.(Lys463Arg) Unknown - likely benign g.88584318A>G g.87663166A>G DMP1(NM_001079911.2):c.1340A>G (p.(Lys447Arg)), DMP1(NM_004407.4):c.1388A>G (p.K463R) - DMP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1388A>G r.(?) p.(Lys463Arg) Unknown - likely benign g.88584318A>G g.87663166A>G DMP1(NM_001079911.2):c.1340A>G (p.(Lys447Arg)), DMP1(NM_004407.4):c.1388A>G (p.K463R) - DMP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1396A>G r.(?) p.(Ser466Gly) Unknown - likely benign g.88584326A>G g.87663174A>G DMP1(NM_001079911.2):c.1348A>G (p.(Ser450Gly)), DMP1(NM_004407.3):c.1396A>G (p.S466G) - DMP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1396A>G r.(?) p.(Ser466Gly) Unknown - likely benign g.88584326A>G - DMP1(NM_001079911.2):c.1348A>G (p.(Ser450Gly)), DMP1(NM_004407.3):c.1396A>G (p.S466G) - DMP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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