Unique variants in gene PIK3R2

Information The variants shown are described using the NM_005027.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.-4324C>T VUS r.(?) p.(=) g.18260204C>T - MAST3(NM_015016.1):c.3598C>T (p.(Arg1200Cys)) - MAST3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4304C>T likely benign r.(?) p.(=) g.18260224C>T - MAST3(NM_015016.2):c.3618C>T (p.P1206=) - MAST3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-4296C>T VUS r.(?) p.(=) g.18260232C>T - MAST3(NM_015016.1):c.3626C>T (p.(Pro1209Leu)) - MAST3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.119C>T likely benign r.(?) p.(Ala40Val) g.18266808C>T - PIK3R2(NM_005027.2):c.119C>T (p.(Ala40Val)) - MAST3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.160G>A benign, likely benign r.(?) p.(Val54Met) g.18266849G>A - PIK3R2(NM_005027.2):c.160G>A (p.(Val54Met)), PIK3R2(NM_005027.4):c.160G>A (p.V54M) - PIK3R2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Leiden
?/. 1 - c.281G>A VUS r.(?) p.(Arg94His) g.18266970G>A - PIK3R2(NM_005027.4):c.281G>A (p.R94H) - MAST3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.292G>A VUS r.(?) p.(Ala98Thr) g.18266981G>A - PIK3R2(NM_005027.3):c.292G>A (p.A98T) - PIK3R2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.346G>A VUS r.(?) p.(Glu116Lys) g.18271304G>A - PIK3R2(NM_005027.3):c.346G>A (p.E116K) - PIK3R2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.415+18dup benign r.(=) p.(=) g.18271391dup - PIK3R2(NM_005027.3):c.415+18dupT, PIK3R2(NM_005027.4):c.415+18dupT - PIK3R2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.451C>T VUS r.(?) p.(Pro151Ser) g.18271764C>T - PIK3R2(NM_005027.3):c.451C>T (p.P151S) - PIK3R2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.697G>T likely benign r.(?) p.(Ala233Ser) g.18272187G>T - PIK3R2(NM_005027.2):c.697G>T (p.(Ala233Ser)) - PIK3R2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.700A>C benign r.(?) p.(Ser234Arg) g.18272190A>C - PIK3R2(NM_005027.3):c.700A>C (p.S234R), PIK3R2(NM_005027.4):c.700A>C (p.S234R) - PIK3R2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.706G>A VUS r.(?) p.(Ala236Thr) g.18272196G>A - PIK3R2(NM_005027.3):c.706G>A (p.A236T) - PIK3R2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.816-8C>T likely benign r.(=) p.(=) g.18272768C>T - PIK3R2(NM_005027.4):c.816-8C>T - PIK3R2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.872A>G likely benign r.(?) p.(His291Arg) g.18272832A>G - PIK3R2(NM_005027.2):c.872A>G (p.(His291Arg)) - PIK3R2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.902-17G>A likely benign r.(=) p.(=) g.18272995G>A - PIK3R2(NM_005027.3):c.902-17G>A - PIK3R2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.903G>A benign r.(?) p.(=) g.18273013G>A - PIK3R2(NM_005027.3):c.903G>A (p.A301=), PIK3R2(NM_005027.4):c.903G>A (p.A301=) - PIK3R2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 3 - c.937T>C benign r.(?) p.(Ser313Pro) g.18273047T>C - PIK3R2(NM_005027.3):c.937T>C (p.S313P), PIK3R2(NM_005027.4):c.937T>C (p.S313P) - PIK3R2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 1 - c.1044C>T likely benign r.(?) p.(=) g.18273251C>T - PIK3R2(NM_005027.3):c.1044C>T (p.P348=) - PIK3R2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., ?/., +?/. 7 10 c.1117G>A VUS, pathogenic r.(?) p.(Gly373Arg) g.18273784G>A g.18162974G>A PIK3R2(NM_005027.3):c.1117G>A (p.G373R) - PIK3R2_000002 lymphoblastoid cell analysis shows increased PI3K activity and elevated PI3K-mTOR signaling, 1 more item PubMed: Riviere 2012, Journal: Riviere 2012, OMIM:var0001, PubMed: Mirzaa 2015 - rs587776934 Germline, CLASSIFICATION record, De novo yes 1/19 MPPH cases - - - Johan den Dunnen, Jelena Čalyševa, VKGL-NL_Nijmegen, NeuroMeGen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/., +?/. 3 - c.1126A>G VUS, likely pathogenic r.(?) p.(Lys376Glu) g.18273793A>G g.18162983A>G - - PIK3R2_000003 VKGL data sharing initiative Nederland PubMed: Mirzaa 2015 - - Germline, CLASSIFICATION record - - - - - Jelena Čalyševa, VKGL-NL, Johan den Dunnen
-/. 1 - c.1560-17C>T benign r.(=) p.(=) g.18277923C>T - PIK3R2(NM_005027.3):c.1560-17C>T - PIK3R2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1620G>A likely benign r.(?) p.(=) g.18278000G>A - PIK3R2(NM_005027.4):c.1620G>A (p.T540=) - PIK3R2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 13 c.1669G>C - r.(?) p.(Asp557His) g.18278049G>C g.18167239G>C - - PIK3R2_000001 - - - rs372272045 De novo - - - - - Norine Voisin
-?/. 1 - c.1809-7A>C likely benign r.(=) p.(=) g.18279529A>C - PIK3R2(NM_005027.2):c.1809-7A>C (p.(=)) - PIK3R2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1831G>A VUS r.(?) p.(Glu611Lys) g.18279558G>A - PIK3R2(NM_005027.3):c.1831G>A (p.E611K) - PIK3R2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.1911T>C benign r.(?) p.(=) g.18279638T>C - PIK3R2(NM_005027.3):c.1911T>C (p.S637=), PIK3R2(NM_005027.4):c.1911T>C (p.S637=) - PIK3R2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 1 - c.1938C>T likely benign r.(?) p.(=) g.18279665C>T - PIK3R2(NM_005027.3):c.1938C>T (p.I646=) - PIK3R2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2115C>T likely benign r.(?) p.(=) g.18280032C>T - PIK3R2(NM_005027.4):c.2115C>T (p.N705=) - PIK3R2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 4 - c.2127C>T benign, likely benign r.(?) p.(=) g.18280044C>T - 1 more item - PIK3R2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.2138C>T VUS r.(?) p.(Ala713Val) g.18280055C>T - PIK3R2(NM_005027.3):c.2138C>T (p.A713V) - PIK3R2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2168C>T VUS r.(?) p.(Pro723Leu) g.18280085C>T - PIK3R2(NM_005027.3):c.2168C>T (p.P723L) - PIK3R2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 3 - c.2179G>A likely benign, benign r.(?) p.(Ala727Thr) g.18280096G>A - 1 more item - PIK3R2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 1 - c.*6G>A likely benign r.(=) p.(=) g.18280110G>A - PIK3R2(NM_005027.3):c.*6G>A - PIK3R2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*5792C>T likely benign r.(=) p.(=) g.18285896C>T - IFI30(NM_006332.3):c.179C>T (p.(Pro60Leu)) - PIK3R2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*5903C>T VUS r.(=) p.(=) g.18286007C>T - IFI30(NM_006332.3):c.290C>T (p.(Thr97Met)) - IFI30_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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