Unique variants in the PGAP1 gene

Information The variants shown are described using the NM_024989.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.148A>G r.(?) p.(Lys50Glu) - VUS g.197784874T>C - PGAP1(NM_024989.3):c.148A>G (p.K50E) - PGAP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.274_276del r.(?) p.(Pro92del) - pathogenic g.197784747_197784749del g.196920023_196920025del - - PGAP1_000001 variant heterozygous in sister PubMed: Bosch 2015, Journal: Bosch 2015, dear8LOV - - Germline - - - - - Danielle Bosch
?/. 1 - c.331A>G r.(?) p.(Lys111Glu) - VUS g.197781288T>C g.196916564T>C - - PGAP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 - c.334_335insA r.(?) p.(Ala112Aspfs*5) - likely pathogenic g.197781284_197781285insT g.196916560_196916561insT - - PGAP1_000010 - PubMed: Kettwig et al. 2016 - - Germline - - - - - Philippe Campeau
+/. 1 - c.427C>T r.(?) p.(Gln143Ter) - pathogenic g.197781192G>A g.196916468G>A - - PGAP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.492T>G r.(?) p.(Ala164=) - likely benign g.197777763A>C - PGAP1(NM_024989.3):c.492T>G (p.A164=) - PGAP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 - c.589_591del r.(?) p.(Leu197del) - pathogenic g.197777668_197777670del g.196912944_196912946del - - PGAP1_000005 1 more item PubMed: Murakami et al. 2014 - rs587777378 Germline yes - - - - Philippe Campeau
-?/. 1 - c.861-14_861-11del r.(=) p.(=) - likely benign g.197761936_197761939del g.196897212_196897215del PGAP1(NM_001321099.2):c.339-14_339-11delACTT - PGAP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.861-2A>G r.spl p.? ACMG likely pathogenic g.197761923T>C g.196897199T>C - - PGAP1_000032 ACMG PVS1, PM2 PubMed: Anazi 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.906T>C r.(?) p.(Leu302=) - likely benign g.197761876A>G g.196897152A>G PGAP1(NM_001321099.2):c.384T>C (p.L128=) - PGAP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 7 c.914C>T r.(?) p.(Ala305Val) - likely benign g.197761868G>A g.196897144G>A PGAP1(NM_024989.4):c.914C>T (p.A305V) - PGAP1_000002 VKGL data sharing initiative Nederland PubMed: Bosch 2015, Journal: Bosch 2015 - - CLASSIFICATION record, Germline - - - - - Danielle Bosch, VKGL-NL_Utrecht
+/. 1 7 c.921_925del r.(?) p.(Lys308Asnfs*25) - pathogenic g.197761859_197761863del g.196897135_196897139del - - PGAP1_000003 variant not present in sister PubMed: Bosch 2015, Journal: Bosch 2015, PubMed: Bosch 2016, Journal: Bosch 2016 - - Germline - - - - - Danielle Bosch
?/. 1 - c.1089+1G>A r.(?) p.() - VUS g.197757069C>T g.196892345C>T - - PGAP1_000016 - - - - Unknown - - - - - IMGAG
?/. 1 - c.1089+5del r.(?) p.() - VUS g.197757065del g.196892341del 1089+5delG - PGAP1_000015 - - - - Unknown - - - - - IMGAG
+?/. 2 - c.1090-2A>G r.spl? p.? - likely pathogenic g.197755637T>C g.196890913T>C - - PGAP1_000012 - PubMed: Granzow et al. 2015 - - Germline - - - - - Philippe Campeau
+?/. 2 - c.1173G>C r.(=) p.(=) - likely pathogenic g.197755552C>G g.196890828C>G - - PGAP1_000011 - PubMed: Kettwig et al. 2016 - - Germline - - - - - Philippe Campeau
+/. 1 - c.1271A>G r.(?) p.(Lys424Arg) - pathogenic g.197750149T>C g.196885425T>C - - PGAP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 14 c.1370T>G r.(1370u>g), r.(?) p.(Phe457Cys) - likely pathogenic g.197740526A>C g.196875802A>C - - PGAP1_000026 - - - - Germline yes - - - - Isabel Filges
+?/. 1 - c.1396C>T r.(?) p.(Gln466*) - likely pathogenic g.197740500G>A g.196875776G>A - - PGAP1_000014 - PubMed: Williams et al. 2015 - - Germline - - - - - Philippe Campeau
+?/. 1 - c.1572T>A r.(?) p.(Tyr524*) - likely pathogenic g.197737731A>T g.196873007A>T - - PGAP1_000013 - PubMed: Williams et al. 2015 - - Germline - - - - - Philippe Campeau
?/. 1 - c.1729-4C>T r.spl? p.? - VUS g.197735707G>A g.196870983G>A - - PGAP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1753C>G r.(?) p.(Gln585Glu) - likely benign g.197735679G>C g.196870955G>C PGAP1(NM_024989.3):c.1753C>G (p.(Gln585Glu)) - PGAP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1787G>T r.(?) p.(Gly596Val) - likely benign g.197729785C>A g.196865061C>A PGAP1(NM_024989.3):c.1787G>T (p.(Gly596Val)) - PGAP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1952+1G>T r.spl? p.? - pathogenic g.197712670C>A g.196847946C>A - - PGAP1_000004 1 more item PubMed: Novarino et al. - rs587777202 Germline yes - - - - Philippe Campeau
-?/. 1 - c.2058C>T r.(?) p.(Leu686=) - likely benign g.197711819G>A g.196847095G>A PGAP1(NM_001321099.1):c.1536C>T (p.L512=) - PGAP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2189C>T r.(?) p.(Pro730Leu) - VUS g.197710703G>A g.196845979G>A PGAP1(NM_024989.3):c.2189C>T (p.(Pro730Leu)) - PGAP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2276A>G r.(?) p.(Tyr759Cys) - VUS g.197710616T>C g.196845892T>C - - PGAP1_000031 - PubMed: Riazuddin 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.2306G>A r.(?) p.(Ser769Asn) - likely benign g.197709279C>T g.196844555C>T PGAP1(NM_001321099.1):c.1784G>A (p.S595N) - PGAP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2335G>A r.(?) p.(Val779Met) - VUS g.197709250C>T g.196844526C>T PGAP1(NM_024989.3):c.2335G>A (p.(Val779Met)) - PGAP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.2349delinsATAATCCCAAACAA r.(?) p.(His783Glnfs*2) ACMG likely pathogenic g.197708788delinsTTGTTTGGGATTAT g.196844064delinsTTGTTTGGGATTAT - - PGAP1_000006 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
-?/. 1 - c.2408G>A r.(?) p.(Arg803His) - likely benign g.197708729C>T g.196844005C>T PGAP1(NM_024989.3):c.2408G>A (p.(Arg803His)) - PGAP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2661A>G r.(?) p.(Pro887=) - likely benign g.197706066T>C - PGAP1(NM_001321099.1):c.2139A>G (p.P713=) - PGAP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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