Full data view for gene PPP2R5C

Information The variants shown are described using the NM_001352913.1 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.103G>A r.(?) p.(Val35Ile) Unknown - likely benign g.102252364G>A g.101786027G>A PPP2R5C(NM_001161726.1):c.103G>A (p.(Val35Ile)) - PPP2R5C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.310T>C r.(?) p.(Cys104Arg) Unknown - pathogenic (dominant) g.102323073T>C g.101856736T>C NP_848702.1:p.Cys49Arg - PPP2R5C_000018 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat36 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 2 Johan den Dunnen
+/. - c.326_331del r.(?) p.(Asp109_Phe110del) Unknown - pathogenic (dominant) g.102323089_102323094del g.101856752_101856757del NP_848702.1:p.Asp54_Phe55del - PPP2R5C_000019 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat9 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.330T>A r.(?) p.(Phe110Leu) Unknown - pathogenic (dominant) g.102323093T>A g.101856756T>A NP_848702.1:p.Phe55Leu - PPP2R5C_000020 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat32 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
-/. - c.330T>C r.(?) p.(Phe110=) Unknown - benign g.102323093T>C g.101856756T>C PPP2R5C(NM_001161725.1):c.258T>C (p.(Phe86=)) - PPP2R5C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.524C>G r.(?) p.(Pro175Arg) Unknown - pathogenic (dominant) g.102348562C>G g.101882225C>G NP_848702.1:p.Pro120Arg - PPP2R5C_000021 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat21 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.529G>A r.(?) p.(Glu177Lys) Unknown - likely pathogenic (dominant) g.102348567G>A g.101882230G>A - - PPP2R5C_000009 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2763.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. - c.529G>A r.(?) p.(Glu177Lys) Unknown - pathogenic (dominant) g.102348567G>A g.101882230G>A NP_848702.1:p.Glu122Lys - PPP2R5C_000009 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat1 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.529G>A r.(?) p.(Glu177Lys) Unknown - pathogenic (dominant) g.102348567G>A g.101882230G>A NP_848702.1:p.Glu122Lys - PPP2R5C_000009 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat6 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.529G>A r.(?) p.(Glu177Lys) Unknown - pathogenic (dominant) g.102348567G>A g.101882230G>A NP_848702.1:p.Glu122Lys - PPP2R5C_000009 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat8 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.529G>A r.(?) p.(Glu177Lys) Unknown - pathogenic (dominant) g.102348567G>A g.101882230G>A NP_848702.1:p.Glu122Lys - PPP2R5C_000009 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat5 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.535G>A r.(?) p.(Glu179Lys) Unknown - pathogenic (dominant) g.102348573G>A g.101882236G>A NP_848702.1:p.Glu124Lys - PPP2R5C_000022 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat35 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.540_542del r.(540_542del) p.(Thr181del) Unknown - likely pathogenic g.102348578_102348580del g.101882241_101882243del NM_001161725:468_470delAAC - PPP2R5C_000017 - PubMed: Loveday 2015, PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES OGS COG0681;Pat2 PubMed: Loveday 2015, PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.552_554del r.(?) p.(Ala185del) Unknown - pathogenic (dominant) g.102348590_102348592del g.101882253_101882255del NP_848702.1:p.Ala130del - PPP2R5C_000023 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat18 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.552_554del r.(?) p.(Ala185del) Unknown - pathogenic (dominant) g.102348590_102348592del g.101882253_101882255del NP_848702.1:p.Ala130del - PPP2R5C_000023 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat19 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.556T>C r.(?) p.(Trp186Arg) Unknown - pathogenic (dominant) g.102348594T>C g.101882257T>C NP_848702.1:p.Trp131Arg - PPP2R5C_000024 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat11 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.556T>C r.(?) p.(Trp186Arg) Unknown - pathogenic (dominant) g.102348594T>C g.101882257T>C NP_848702.1:p.Trp131Arg - PPP2R5C_000024 - PubMed: Verbinnen 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES HJS Pat29 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.563A>C r.(?) p.(His188Pro) Unknown - pathogenic (dominant) g.102348601A>C g.101882264A>C NP_848702.1:p.His133Pro - PPP2R5C_000026 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat26 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.563A>C r.(?) p.(His188Pro) Unknown - pathogenic (dominant) g.102348601A>C g.101882264A>C NP_848702.1:p.His133Pro - PPP2R5C_000026 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat16 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.563A>G r.(?) p.(His188Arg) Unknown - pathogenic (dominant) g.102348601A>G g.101882264A>G NP_848702.1:p.His133Arg - PPP2R5C_000025 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat12 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.563A>G r.(?) p.(His188Arg) Unknown - pathogenic (dominant) g.102348601A>G g.101882264A>G NP_848702.1:p.His133Arg - PPP2R5C_000025 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat7 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.563A>T r.(?) p.(His188Leu) Unknown - pathogenic (dominant) g.102348601A>T g.101882264A>T NP_848702.1:p.His133Leu - PPP2R5C_000027 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat28 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.566T>C r.(?) p.(Leu189Pro) Unknown - pathogenic (dominant) g.102348604T>C g.101882267T>C NP_848702.1:p.Leu134Pro - PPP2R5C_000028 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat10 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.570+5C>T r.spl? p.? Unknown - likely benign g.102348613C>T g.101882276C>T PPP2R5C(NM_001161725.1):c.498+5C>T (p.?) - PPP2R5C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.685G>A r.(?) p.(Glu229Lys) Unknown - VUS g.102349790G>A g.101883453G>A PPP2R5C(NM_001161725.1):c.613G>A (p.E205K) - PPP2R5C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.685G>A r.(?) p.(Glu229Lys) Unknown - pathogenic (dominant) g.102349790G>A g.101883453G>A NP_848702.1:p.Glu174Lys - PPP2R5C_000001 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat30 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.689A>T r.(?) p.(Asp230Val) Unknown - pathogenic (dominant) g.102349794A>T g.101883457A>T NP_848702.1:p.Asp175Val - PPP2R5C_000029 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat14 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.694C>T r.(?) p.(Arg232Trp) Unknown - pathogenic (dominant) g.102349799C>T g.101883462C>T NP_848702.1:p.Arg177Trp - PPP2R5C_000030 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat25 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 2 Johan den Dunnen
+/. - c.695G>T r.(?) p.(Arg232Leu) Unknown - pathogenic (dominant) g.102349800G>T g.101883463G>T NP_848702.1:p.Arg177Leua - PPP2R5C_000031 - PubMed: Verbinnen 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES HJS Pat37 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. - c.895A>G r.(?) p.(Lys299Glu) Unknown - pathogenic (dominant) g.102359377A>G g.101893040A>G NP_848702.1:p.Lys244Glu - PPP2R5C_000032 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat22 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1080A>C r.(?) p.(Leu360Phe) Unknown - pathogenic (dominant) g.102368118A>C g.101901781A>C c.915A>C NP_848702.1:p.Leu305Phe - PPP2R5C_000033 - PubMed: Verbinnen 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES HJS Pat3 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1195G>A r.(?) p.(Glu399Lys) Unknown - pathogenic (dominant) g.102372745G>A g.101906408G>A NP_848702.1:p.Glu344Lys - PPP2R5C_000034 - PubMed: Verbinnen 2025 - - De novo - - - - - DNA SEQ-NG - WES HJS Pat23 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1610C>G r.(?) p.(Ala537Gly) Unknown - VUS g.102391479C>G g.101925142C>G PPP2R5C(NM_001352913.2):c.1610C>G (p.A537G) - PPP2R5C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1637C>T r.(?) p.(Pro546Leu) Unknown - VUS g.102391506C>T g.101925169C>T PPP2R5C(NM_001161725.2):c.1565C>T (p.P522L) - PPP2R5C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1649G>T r.(?) p.(Arg550Leu) Unknown - VUS g.102391518G>T g.101925181G>T PPP2R5C(NM_001161725.2):c.1577G>T (p.R526L) - PPP2R5C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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