Unique variants in the PGAP3 gene

Information The variants shown are described using the NM_033419.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.-39951del r.(?) p.(=) - VUS g.37884223del g.39727970del ERBB2(NM_001289936.1):c.3649delG (p.A1217Lfs*70) - ERBB2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-39770G>C r.(?) p.(=) - benign g.37884037C>G g.39727784C>G ERBB2(NM_001005862.2):c.3418C>G (p.P1140A) - ERBB2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-39429G>A r.(?) p.(=) - likely benign g.37883696C>T - ERBB2(NM_001289936.1):c.3263C>T (p.T1088I) - ERBB2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-38874C>T r.(?) p.(=) - likely benign g.37883141G>A g.39726888G>A ERBB2(NM_001289936.1):c.2999G>A (p.G1000E) - ERBB2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-37694A>C r.(?) p.(=) - likely benign g.37881961T>G g.39725708T>G ERBB2(NM_001289936.1):c.2682T>G (p.G894=) - ERBB2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-27878G>A r.(?) p.(=) - VUS g.37872145C>T g.39715892C>T ERBB2(NM_001289936.1):c.1421C>T (p.P474L) - ERBB2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-27447G>A r.(?) p.(=) - VUS g.37871714C>T g.39715461C>T ERBB2(NM_001289936.1):c.1193C>T (p.S398L) - ERBB2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-27280G>T r.(?) p.(=) - likely benign g.37871547C>A g.39715294C>A ERBB2(NM_001289936.1):c.1112C>A (p.A371D) - ERBB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-24448G>A r.(?) p.(=) - benign g.37868715C>T g.39712462C>T ERBB2(NM_001005862.2):c.1058+14C>T - ERBB2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-21866G>C r.(?) p.(=) - likely benign g.37866133C>G g.39709880C>G ERBB2(NM_001289936.1):c.597C>G (p.S199R) - ERBB2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.100C>T r.(?) p.(Leu34=) - likely benign g.37844168G>A g.39687915G>A PGAP3(NM_033419.4):c.100C>T (p.L34=) - ERBB2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.124T>G r.(?) p.(Ser42Ala) - likely benign g.37844144A>C - PGAP3(NM_033419.3):c.124T>G (p.(Ser42Ala)) - ERBB2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.200A>G r.(?) p.(Asp67Gly) - VUS g.37842254T>C g.39686001T>C PGAP3(NM_033419.4):c.200A>G (p.D67G) - ERBB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.275G>A r.(?) p.(Gly92Asp) - pathogenic g.37842179C>T g.39685926C>T - - PGAP3_000001 1 more item PubMed: Howard et al. 2014 - rs587777251 Germline yes - - - - Philippe Campeau
+/. 1 3 c.314C>A r.(?) p.(Pro105Gln) - pathogenic g.37840968G>T g.39684715G>T - - PGAP3_000022 1 more item - - - Germline - - - - - Philippe Campeau
+/. 1 - c.314C>G r.(?) p.(Pro105Arg) - pathogenic g.37840968G>C g.39684715G>C - - PGAP3_000004 1 more item PubMed: Howard et al. 2014 - rs371549948 Germline yes - - - - Philippe Campeau
+/., +?/. 6 2 c.320C>T r.(?) p.(Ser107Leu) - likely pathogenic, pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 1 more item PubMed: Knaus et al. 2016, PubMed: Pagnamenta et al. 2017 - - Germline, Unknown - - - - - Philippe Campeau
+?/. 10 - c.402dup r.(?) p.(Met135Hisfs*28) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017, PubMed: Knaus et al. 2016 - - Germline yes - - - - Philippe Campeau
-?/. 1 - c.404T>C r.(?) p.(Met135Thr) - likely benign g.37840878A>G g.39684625A>G PGAP3(NM_033419.3):c.404T>C (p.(Met135Thr)) - PGAP3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.432+1G>A r.spl p.? ACMG pathogenic (recessive) g.37840849C>T g.39684596C>T - - PGAP3_000030 - PubMed: Hu 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.439dup r.(?) p.(Leu147Profs*16) - pathogenic g.37830928dup g.39674675dup - - PGAP3_000003 1 more item PubMed: Howard et al. 2014 - - Germline yes - - - - Philippe Campeau
-?/. 1 - c.495+10C>T r.(=) p.(=) - likely benign g.37830860G>A - PGAP3(NM_033419.4):c.495+10C>T - PGAP3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.496-9_496-8insCAGAGTA r.(=) p.(=) - VUS g.37830315_37830316insTACTCTG g.39674062_39674063insTACTCTG - - PGAP3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 5 c.507C>A r.(?) p.(Tyr169*) - pathogenic g.37830296G>T g.39674043G>T - - PGAP3_000021 1 more item - - - Germline - - - - - Philippe Campeau
+?/. 1 - c.511T>C r.(?) p.(Cys171Arg) - likely pathogenic g.37830292A>G g.39674039A>G - - PGAP3_000017 - PubMed: Knaus et al. 2016 - - Germline - - - - - Philippe Campeau
+?/. 2 - c.558-10G>A r.(=) p.(=) - likely pathogenic g.37829913C>T g.39673660C>T - - PGAP3_000012 - PubMed: Knaus et al. 2016 - - Germline, Unknown - - - - - Philippe Campeau
+/. 1 - c.663T>G r.(?) p.(Tyr221Ter) - pathogenic g.37829798A>C g.39673545A>C PGAP3(NM_033419.5):c.663T>G (p.Y221*) - PGAP3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.715_717del r.(?) p.(Trp239del) - VUS g.37829490_37829492del g.39673237_39673239del - - PGAP3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.817_820del r.(?) p.(Asp273Serfs*37) - likely pathogenic g.37829384_37829387del g.39673131_39673134del - - PGAP3_000019 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - - - Philippe Campeau
+?/+?, ?/. 2 - c.827C>T r.(?) p.(Pro276Leu) - likely pathogenic, VUS g.37829376G>A g.39673123G>A PGAP3(NM_033419.5):c.827C>T (p.P276L) - PGAP3_000006 VKGL data sharing initiative Nederland PubMed: Knaus et al. 2018 - - CLASSIFICATION record, Germline/De novo (untested) - - - - - Philippe Campeau, VKGL-NL_Groningen
+?/. 1 - c.842T>C r.(?) p.(Leu281Pro) - likely pathogenic g.37829361A>G g.39673108A>G - - PGAP3_000018 - PubMed: Knaus et al. 2016 - - Germline - - - - - Philippe Campeau
+?/. 2 - c.845A>G r.(?) p.(Asp282Gly) - likely pathogenic g.37829358T>C g.39673105T>C - - PGAP3_000016 - PubMed: Knaus et al. 2016 - - Germline - - - - - Philippe Campeau
+/., ?/. 10 7 c.850C>T r.(?) p.(His284Tyr) - pathogenic, pathogenic (recessive), VUS g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 VKGL data sharing initiative Nederland, 2 more items PubMed: Maddirevula 2018 - - CLASSIFICATION record, Germline - - - - - Philippe Campeau, VKGL-NL_Nijmegen
+/., +?/. 12 7 c.851A>G r.(?) p.(His284Arg) - likely pathogenic, pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 2 more items PubMed: Nampoothiri et al. 2017 - - De novo, Germline - - - - - Philippe Campeau
+?/. 2 - c.861G>T r.(?) p.(Trp287Cys) - likely pathogenic g.37829342C>A g.39673089C>A - - PGAP3_000014 - PubMed: Knaus et al. 2016 - - Germline - - - - - Philippe Campeau
+/., +?/. 4 8 c.914A>G r.(?) p.(Asp305Gly) - likely pathogenic, pathogenic g.37829105T>C g.39672852T>C - - PGAP3_000002 1 more item PubMed: Howard et al. 2014, PubMed: Knaus et al. 2016, PubMed: Pagnamenta et al. 2017 - rs587777252 Germline yes - - - - Philippe Campeau
+?/. 1 - c.924C>A r.(?) p.(Tyr308*) ACMG likely pathogenic g.37829095G>T g.39672842G>T - - PGAP3_000005 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+?/. 2 - c.*559C>T r.(=) p.(=) - likely pathogenic g.37828497G>A g.39672244G>A - - PGAP3_000015 - PubMed: Knaus et al. 2016 - - Germline - - - - - Philippe Campeau
-/. 1 - c.*6299G>T r.(=) p.(=) - benign g.37822757C>A g.39666504C>A - - PGAP3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*6317C>G r.(=) p.(=) - likely benign g.37822739G>C g.39666486G>C - - TCAP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*6495C>A r.(=) p.(=) - likely benign g.37822561G>T g.39666308G>T - - TCAP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.*6616A>C r.(=) p.(=) - benign g.37822440T>G g.39666187T>G - - PGAP3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.*6618C>A r.(=) p.(=) - likely benign g.37822438G>T g.39666185G>T TCAP(NM_003673.3):c.*76G>T - TCAP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
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