Full data view for gene PPP2R2B

Information The variants shown are described using the NM_181678.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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.-48-22162_-48-22145dup r.(=) p.(=) Unknown - benign g.146258305_146258322dup g.146878742_146878759dup PPP2R2B(NM_181675.3):c.34_51dupAGCAGCAGCAGCAGCAGC (p.S14_S19dup) - PPP2R2B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-48-22156_-48-22145dup r.(=) p.(=) Unknown - likely benign g.146258311_146258322dup g.146878748_146878759dup PPP2R2B(NM_001271948.1):c.-775_-774insAGCAGCAGCAGC (p.(=)) - PPP2R2B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-48-22153_-48-22145dup r.(=) p.(=) Unknown - benign g.146258314_146258322dup g.146878751_146878759dup PPP2R2B(NM_181675.3):c.43_51dupAGCAGCAGC (p.S17_S19dup) - PPP2R2B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-48-22147A>T r.(=) p.(=) Unknown - VUS g.146258293T>A g.146878730T>A PPP2R2B(NM_181675.3):c.55A>T (p.S19C) - PPP2R2B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-48-22147_-48-22145del r.(=) p.(=) Unknown - benign g.146258320_146258322del g.146878757_146878759del PPP2R2B(NM_181675.3):c.55_57delAGC (p.S19del) - PPP2R2B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-48-22147_-48-22145dup r.(=) p.(=) Unknown - VUS g.146258320_146258322dup - PPP2R2B(NM_181675.3):c.55_57dupAGC (p.S19dup) - PPP2R2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-48-58227::[NM_000089.3:c.869] r.? p.? Unknown - VUS g.146294374_qterdelins[NC_000007.13:g.94038710_qter] - chr5:146294373,chr7:94038710 t(5;7)(q32;q21) PPP2R2B_000000 translocation PubMed: Liu 2017 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - targeted 14-gene panel OI OI Fam27 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - 0 - - 1 Johan den Dunnen
-?/. - c.38-13T>G r.(=) p.(=) Unknown - likely benign g.146080718A>C g.146701155A>C PPP2R2B(NM_001271948.1):c.38-13T>G - PPP2R2B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76G>A r.(?) p.(Glu26Lys) Unknown - VUS g.146080667C>T - - - PPP2R2B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.413G>C r.(?) p.(Arg138Pro) Unknown - pathogenic (dominant) g.146070692C>G g.146691129C>G - - PPP2R2B_000021 - PubMed: Hamdan 2015 - - De novo - - - 0 - DNA SEQ-NG - WES ID 1841.646 PubMed: Hamdan 2015 - M - Canada - - 0 - - 1 Johan den Dunnen
-?/. - c.415-6del r.(=) p.(=) Unknown - likely benign g.146030293del g.146650730del PPP2R2B(NM_001271948.1):c.415-6delT - PPP2R2B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1185C>T r.(?) p.(Val395=) Unknown - likely benign g.145969624G>A g.146590061G>A PPP2R2B(NM_001271948.1):c.1185C>T (p.V395=) - PPP2R2B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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