Full data view for gene PPM1D

Information The variants shown are described using the NM_003620.3 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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.131C>G r.(?) p.(Ser44Trp) Unknown - likely benign g.58677906C>G - PPM1D(NM_003620.4):c.131C>G (p.S44W) - PPM1D_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257C>A r.(?) p.(Pro86Gln) Unknown - VUS g.58678032C>A g.60600671C>A PPM1D(NM_003620.3):c.257C>A (p.(Pro86Gln)) - PPM1D_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.473C>T r.(?) p.(Ala158Val) Unknown - likely benign g.58700882C>T - PPM1D(NM_003620.3):c.473C>T (p.A158V) - PPM1D_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.679C>T r.(?) p.(Arg227Ter) Unknown - VUS g.58701088C>T g.60623727C>T PPM1D(NM_003620.3):c.679C>T (p.R227*) - PPM1D_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.748C>T r.(?) p.(Arg250Ter) Unknown - VUS g.58711260C>T g.60633899C>T - - PPM1D_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1017+10G>T r.(=) p.(=) Unknown - likely benign g.58725453G>T - PPM1D(NM_003620.4):c.1017+10G>T - PPM1D_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1021G>A r.(?) p.(Glu341Lys) Unknown - likely benign g.58733963G>A - PPM1D(NM_003620.3):c.1021G>A (p.(Glu341Lys)) - PPM1D_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1177C>G r.(?) p.(Leu393Val) Unknown - likely benign g.58734119C>G - PPM1D(NM_003620.3):c.1177C>G (p.(Leu393Val)) - PPM1D_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1188_1191del r.(?) p.(Asp397AlafsTer11) Unknown - pathogenic (dominant) g.58734130_58734133del g.60656769_60656772del - - PPM1D_000021 - PubMed: Jansen 2017 - - De novo - - - - - DNA SEQ-NG - WES ID Pat7 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1210C>T r.(?) p.(Gln404Ter) Unknown - pathogenic g.58734152C>T g.60656791C>T - - PPM1D_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1210C>T r.(?) p.(Gln404Ter) Unknown - pathogenic (dominant) g.58734152C>T g.60656791C>T - - PPM1D_000010 - PubMed: Jansen 2017 - - De novo - - - - - DNA SEQ-NG - WES ID Pat4 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1212A>C r.(?) p.(Gln404His) Unknown - VUS g.58734154A>C - PPM1D(NM_003620.4):c.1212A>C (p.Q404H) - PPM1D_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1216del r.(?) p.(Thr406ProfsTer3) Unknown - pathogenic (dominant) g.58734158del g.60656797del - - PPM1D_000005 - PubMed: Jansen 2017 - - De novo - - - - - DNA SEQ-NG - WES ID Pat2 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.1221T>A r.(?) p.(Cys407Ter) Unknown - likely pathogenic g.58734163T>A g.60656802T>A - - PPM1D_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1221T>A r.(?) p.(Cys407Ter) Unknown - pathogenic (dominant) g.58734163T>A g.60656802T>A - - PPM1D_000006 - PubMed: Jansen 2017 - - De novo - - - - - DNA SEQ-NG - WES ID Pat1 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1250dup r.(?) p.(Pro418ThrfsTer16) Unknown - pathogenic (dominant) g.58734192dup g.60656831dup - - PPM1D_000022 - PubMed: Jansen 2017 - - De novo - - - - - DNA arrayCGH, SEQ-NG - WES ID Pat8 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1260+1dup r.spl p.(Ser421ThrfsTer12) Unknown - pathogenic (dominant) g.58734203dup g.60656842dup - - PPM1D_000007 - PubMed: Jansen 2017 - - De novo - - - - - DNA SEQ-NG - WES ID Pat3 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1269_1270dup r.(?) p.(Glu424GlyfsTer8) Unknown - pathogenic (dominant) g.58740364_58740365dup g.60663003_60663004dup - - PPM1D_000023 - PubMed: Jansen 2017 - - De novo - - - - - DNA SEQ-NG - WES ID Pat5 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1270dup r.(?) p.(Glu424GlyfsTer10) Unknown - pathogenic (dominant) g.58740365dup g.60663004dup - - PPM1D_000024 - PubMed: Jansen 2017 - - De novo - - - - - DNA SEQ-NG - WES ID Pat9 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1270dup r.(?) p.(Glu424GlyfsTer10) Unknown - pathogenic (dominant) g.58740365dup g.60663004dup - - PPM1D_000024 - PubMed: Jansen 2017 - - De novo - - - - - DNA SEQ-NG - WES ID Pat10 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1271_1272dup r.(?) p.(Asp425Argfs*7) Unknown - pathogenic g.58740366_58740367dup - PPM1D(NM_003620.4):c.1271_1272dupAG (p.D425Rfs*7) - PPM1D_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.1273_1274insT r.(?) p.(Asp425Valfs*9) Unknown ACMG likely pathogenic g.58740368_58740369insT g.60663007_60663008insT - - PPM1D_000044 - - ClinVar-3544373 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.1278dup r.(?) p.(Trp427Metfs*7) Unknown - pathogenic g.58740373dup - - - PPM1D_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1281G>A r.(?) p.(Trp427Ter) Unknown - pathogenic (dominant) g.58740376G>A g.60663015G>A - - PPM1D_000025 - PubMed: Jansen 2017 - - De novo - - - - - DNA SEQ-NG - WES ID Pat11 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1281G>A r.(?) p.(Trp427Ter) Unknown - pathogenic (dominant) g.58740376G>A g.60663015G>A - - PPM1D_000025 - PubMed: Jansen 2017 - - De novo - - - - - DNA SEQ-NG - WES ID Pat12 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.1287G>C r.(?) p.(Arg429Ser) Unknown - likely benign g.58740382G>C g.60663021G>C PPM1D(NM_003620.3):c.1287G>C (p.(Arg429Ser)) - PPM1D_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1307_1308del r.(?) p.(Ile436Thrfs*6) Unknown - pathogenic g.58740402_58740403del - PPM1D(NM_003620.4):c.1307_1308delTA (p.I436Tfs*6) - PPM1D_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1339G>T r.(?) p.(Glu447Ter) Unknown - pathogenic (dominant) g.58740434G>T g.60663073G>T - - PPM1D_000026 - PubMed: Jansen 2017 - - De novo - - - - - DNA SEQ-NG - WES ID Pat6 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.1343A>G r.(?) p.(Asn448Ser) Unknown - likely benign g.58740438A>G - PPM1D(NM_003620.4):c.1343A>G (p.N448S) - PPM1D_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1387_1388insTA r.(?) p.(Gly463ValfsTer3) Unknown - pathogenic g.58740482_58740483insTA - - - PPM1D_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1403C>G r.(?) p.(Ser468*) Unknown - likely pathogenic g.58740498C>G - PPM1D(NM_003620.4):c.1403C>G (p.S468*) - PPM1D_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1404_1411del r.(?) p.(Lys469ArgfsTer4) Unknown - VUS g.58740499_58740506del g.60663138_60663145del PPM1D(NM_003620.3):c.1404_1411delAAAAGATC (p.K469Rfs*4) - PPM1D_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1404_1411del r.(?) p.(Lys469ArgfsTer4) Unknown - pathogenic (dominant) g.58740499_58740506del g.60663138_60663145del - - PPM1D_000003 - PubMed: Jansen 2017 - - De novo - - - - - DNA SEQ-NG - WES ID Pat14 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.1405A>G r.(?) p.(Lys469Glu) Unknown - likely benign g.58740500A>G - PPM1D(NM_003620.4):c.1405A>G (p.K469E) - PPM1D_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1406A>G r.(?) p.(Lys469Arg) Unknown - likely benign g.58740501A>G - PPM1D(NM_003620.3):c.1406A>G (p.(Lys469Arg)) - PPM1D_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1440del r.(?) p.(Ala481Profs*2) Unknown - likely pathogenic g.58740535del - PPM1D(NM_003620.4):c.1440delA (p.A481Pfs*2) - PPM1D_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1441del r.(?) p.(Ala481Profs*2) Unknown - pathogenic g.58740536del - PPM1D(NM_003620.3):c.1441delG (p.A481Pfs*2) - PPM1D_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1442C>A r.(?) p.(Ala481Asp) Unknown - pathogenic g.58740537C>A - PPM1D(NM_003620.3):c.1442C>A (p.A481D) - PPM1D_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1460A>G r.(?) p.(His487Arg) Unknown - likely benign g.58740555A>G - PPM1D(NM_003620.3):c.1460A>G (p.(His487Arg)) - PPM1D_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1486A>G r.(?) p.(Ile496Val) Unknown - likely benign g.58740581A>G g.60663220A>G PPM1D(NM_003620.3):c.1486A>G (p.(Ile496Val)), PPM1D(NM_003620.4):c.1486A>G (p.I496V) - PPM1D_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1486A>G r.(?) p.(Ile496Val) Unknown - likely benign g.58740581A>G - PPM1D(NM_003620.3):c.1486A>G (p.(Ile496Val)), PPM1D(NM_003620.4):c.1486A>G (p.I496V) - PPM1D_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1528C>T r.(?) p.(Gln510Ter) Unknown - pathogenic g.58740623C>T g.60663262C>T - - PPM1D_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1607G>A r.(?) p.(Arg536Lys) Unknown - likely benign g.58740702G>A g.60663341G>A PPM1D(NM_003620.3):c.1607G>A (p.(Arg536Lys)) - PPM1D_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1637del r.(?) p.(Leu546Argfs*2) Unknown - likely pathogenic g.58740732del - PPM1D(NM_003620.3):c.1637delT (p.L546Rfs*2) - PPM1D_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1654C>T r.(?) p.(Arg552Ter) Unknown - VUS g.58740749C>T g.60663388C>T PPM1D(NM_003620.3):c.1654C>T (p.R552*) - PPM1D_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1654C>T r.(?) p.(Arg552Ter) Unknown - likely pathogenic g.58740749C>T - PPM1D(NM_003620.3):c.1654C>T (p.R552*) - PPM1D_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1654C>T r.(?) p.(Arg552Ter) Unknown - pathogenic (dominant) g.58740749C>T g.60663388C>T - - PPM1D_000014 carries also 5.8 Mb deletion del(11)(p12p11.2) explaining Potocki-Shaffer syndrome PubMed: Jansen 2017 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES ID, PSS Pat13 PubMed: Jansen 2017 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1654C>T r.(?) p.(Arg552*) Unknown ACMG likely pathogenic g.58740749C>T g.60663388C>T Arg552* - PPM1D_000014 - - 620148 rs779070661 Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon UCDMX015 - - F - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
-?/. - c.1690G>C r.(?) p.(Ala564Pro) Unknown - likely benign g.58740785G>C - PPM1D(NM_003620.3):c.1690G>C (p.(Ala564Pro)) - PPM1D_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1724C>T r.(?) p.(Ser575Phe) Unknown - VUS g.58740819C>T - PPM1D(NM_003620.3):c.1724C>T (p.(Ser575Phe)) - PPM1D_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.1726_1727del r.(1726_1727) p.(Val576*) Unknown ACMG VUS (!) g.58740821_58740822del g.60663460_60663461del - - PPM1D_000046 ACMG: PVS1_moderate, PM2_supporting - VCV003612826.1 - Germline ? - - - - DNA SEQ-NG-I Blood - JDVS 340511 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.1741C>T r.(?) p.(Arg581Ter) Unknown - likely pathogenic g.58740836C>T g.60663475C>T PPM1D(NM_003620.3):c.1741C>T (p.(Arg581*)) - PPM1D_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.1741C>T r.(?) p.(Arg581*) Unknown ACMG VUS (!) g.58740836C>T - - - PPM1D_000015 ACMG: PVS1_N/A (NMD not predicted); PM2_SUP; PubMed: 28343630: All mutations were located in the last or penultimate exon (exons 5 and 6) and were predicted to escape nonsense-mediated mRNA decay, resulting in a truncated protein that would retain the functional phosphatase domain but lack the nuclear localization signal PubMed: 28343630 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - ID 180603 - - F no Germany - - - - - 1 Andreas Laner
?/. - c.1741C>T r.(?) p.(Arg581Ter) Unknown - VUS g.58740836C>T - PPM1D(NM_003620.3):c.1741C>T (p.(Arg581*)) - PPM1D_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1796G>A r.(?) p.(Arg599Lys) Unknown - VUS g.58740891G>A g.60663530G>A PPM1D(NM_003620.4):c.1796G>A (p.R599K) - PPM1D_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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