Full data view for gene PIGN

Information The variants shown are described using the NM_176787.4 transcript reference sequence.

142 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.-18161339_*11350425del r.0? p.0? Unknown - pathogenic g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.-1207C>T r.(?) p.(=) Unknown - VUS g.59855048G>A g.62187815G>A KIAA1468(NM_020854.3):c.310G>A (p.D104N) - KIAA1468_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1045C>T r.(?) p.(=) Unknown - likely benign g.59854886G>A g.62187653G>A KIAA1468(NM_020854.3):c.148G>A (p.(Gly50Ser)) - KIAA1468_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-110+4A>C r.spl? p.? Unknown - VUS g.59830760T>G - PIGN(NM_176787.5):c.-110+4A>C - PIGN_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76T>A r.(?) p.(Ser26Thr) Unknown - VUS g.59828511A>T - PIGN(NM_176787.4):c.76T>A (p.(Ser26Thr)) - PIGN_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.94del r.(?) p.(Met32*) Maternal (confirmed) - pathogenic (recessive) g.59828494del g.62161261del 94_94delA - PIGN_000066 - PubMed: Martinez 2017, Journal: Martinez 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 1256 gene panel ID 27620904-Pat27 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - 1 Johan den Dunnen
?/. - c.121C>T r.(?) p.(Pro41Ser) Unknown - VUS g.59828466G>A g.62161233G>A PIGN(NM_012327.5):c.121C>T (p.(Pro41Ser)) - PIGN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.133_135del r.(?) p.(Arg45del) Unknown - likely pathogenic g.59828455_59828457del - - - PIGN_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.137T>G r.(?) p.(Leu46*) Unknown - likely pathogenic g.59828450A>C - - - PIGN_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.167C>T r.(?) p.(Ala56Val) Unknown - likely benign g.59828420G>A g.62161187G>A PIGN(NM_012327.5):c.167C>T (p.(Ala56Val)), PIGN(NM_176787.4):c.167C>T (p.A56V) - PIGN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.167C>T r.(?) p.(Ala56Val) Unknown - benign g.59828420G>A g.62161187G>A PIGN(NM_012327.5):c.167C>T (p.(Ala56Val)), PIGN(NM_176787.4):c.167C>T (p.A56V) - PIGN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.167C>T r.(?) p.(Ala56Val) Parent #1 - benign g.59828420G>A g.62161187G>A - - PIGN_000046 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61755362 Germline - 24/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 24 Mohammed Faruq
?/. - c.170A>G r.(?) p.(Asp57Gly) Unknown - VUS g.59828417T>C - PIGN(NM_176787.4):c.170A>G (p.(Asp57Gly)) - PIGN_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.181G>T r.(?) p.(Glu61*) Maternal (confirmed) - likely pathogenic g.59828406C>A g.62161173C>A - - PIGN_000059 - PubMed: Thiffault et al. 2017 - - Germline - - - - - DNA SEQ-NG peripheral blood WES - - PubMed: Thiffault 2017 - M - - - - - - - 1 Philippe Campeau
-?/. - c.213G>A r.(?) p.(Pro71=) Unknown - likely benign g.59828374C>T g.62161141C>T PIGN(NM_176787.4):c.213G>A (p.P71=) - PIGN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.214_1620del r.(?) p.(Phe72_Pro540del) Maternal (confirmed) - likely pathogenic g.59774273_59828373del g.62107040_62161140del - - PIGN_000064 Deletion of exons 2-14. Also carried by healthy sibling PubMed: Nakagawa et al. 2015 - - Germline yes - - - - DNA SEQ-NG - Target exome sequencing of the 26 genes related to GPI-APs epilepsy, ID - PubMed: Nakagawa et al.2015 - M no Japan - - - - - 1 Philippe Campeau
-?/. - c.253A>G r.(?) p.(Ile85Val) Unknown - likely benign g.59825010T>C g.62157777T>C PIGN(NM_012327.5):c.253A>G (p.(Ile85Val)) - PIGN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.284G>A r.(?) p.(Arg95Gln) Paternal (confirmed) - likely pathogenic g.59824979C>T g.62157746C>T - - PIGN_000060 - PubMed: Thiffault et al. 2017 - - Germline - - - - - DNA SEQ-NG peripheral blood WES - - PubMed: Thiffault 2017 - M - - - - - - - 1 Philippe Campeau
+/. - c.284G>A r.(?) p.(Arg95Gln) Unknown - pathogenic g.59824979C>T - - - PIGN_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.310G>A r.(?) p.(Gly104Arg) Both (homozygous) ACMG VUS g.59824953C>T - - - PIGN_000096 ACMG PM2_SUP, PM3_SUP, PP3 - - - Germline ? - - - - DNA SEQ-NG-I - - MCAHS1;GPIBD3 187571 - - M yes - Arabian - - - - 1 Andreas Laner
+?/. 5_7i c.(221_324)_(549+196_550-1)del r.? p.? Paternal (confirmed) - likely pathogenic g.(59815572_59821582)_(59824939_59828366)del - chr18:59,821,582-59,824,939 - PIGN_000061 - PubMed: Fleming et al. 2016 - - Germline - - - - - DNA SEQ-NG - WES - Patient_4 PubMed: Fleming 2016 - F - - white - African American - - - - 1 Philippe Campeau
?/. 5 c.329G>A r.(?) p.(Ser110Asn) Parent #1 - VUS g.59824934C>T g.62157701C>T - - PIGN_000092 - PubMed: Ganapathy 2019 - rs746450459 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2534 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.329_549+1908del r.spl? p.? Both (homozygous) - likely pathogenic g.59819870_59824934del g.62152637_62157701del - - PIGN_000062 - PubMed: Alessandri et al.2018 - - Germline yes - - - - DNA PCR - exons 5–7 of PIGN as predicted by WES and XHMM software FRNS Patient_1 PubMed: Alessandri 2018 - M no Reunion - 00y00m08d - - - 2 Philippe Campeau
+?/. - c.329_549+1908del r.spl? p.? Both (homozygous) - likely pathogenic g.59819870_59824934del g.62152637_62157701del - - PIGN_000062 - PubMed: Alessandri et al.2018 - - Germline yes - - - - DNA PCR - - FRNS Patient_2 PubMed: Alessandri 2018 - F no Reunion - - - - - 1 Philippe Campeau
+?/. - c.329_549+1908del r.spl? p.? Both (homozygous) - likely pathogenic g.59819870_59824934del g.62152637_62157701del - - PIGN_000062 The deletion coordinates might not exactly be c.329_549+1908del but is known to be present at that region and suggests the absence of exons 6 and 7 PubMed: Alessandri et al.2018 - - Germline yes - - - - DNA PCR - - FRNS Patient_3 PubMed: Alessandri 2018 - F no Reunion - - - - - 1 Philippe Campeau
+?/. - c.329_549+1908del r.spl? p.? Both (homozygous) - likely pathogenic g.59819870_59824934del g.62152637_62157701del - - PIGN_000062 The deletion coordinates might not exactly be c.329_549+1908del but is known to be present at that region and suggests the absence of exons 6 and 7 PubMed: Alessandri et al.2018 - - Germline yes - - - - DNA PCR - - FRNS Patient_4 PubMed: Alessandri 2018 - F no Mayotte - - - - - 1 Philippe Campeau
?/. - c.364G>C r.(?) p.(Glu122Gln) Unknown - VUS g.59824440C>G g.62157207C>G PIGN(NM_176787.4):c.364G>C (p.E122Q) - PIGN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.364G>C r.(?) p.(Glu122Gln) Unknown - likely benign g.59824440C>G g.62157207C>G PIGN(NM_176787.4):c.364G>C (p.E122Q) - PIGN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.364G>C r.(?) p.(Glu122Gln) Parent #1 - VUS g.59824440C>G g.62157207C>G - - PIGN_000043 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200756305 Germline - 4/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+?/. - c.406T>G r.(?) p.(Trp136Gly) Maternal (confirmed) - likely pathogenic g.59824398A>C g.62157165A>C - - PIGN_000052 - PubMed: Couser et al. 2015 - - Germline - - - - - DNA SEQ-NG peripheral blood NextGen Exome Sequencing (NCGENES) MCAHS1;GPIBD3 - PubMed: Couser 2015 - M no - Mexican American - - - - 1 Philippe Campeau
+?/. - c.421dup r.(?) p.(Ile141Asnfs*10) Both (homozygous) - likely pathogenic g.59824383dup g.62157150dup - - PIGN_000063 - PubMed: Alessandri et al.2018 - - Germline yes - - - - DNA SEQ-NG - WES FRNS Patient_5 PubMed: Alessandri 2018 - F yes - North African 00y00m02d - - - 2 Philippe Campeau
+?/. - c.421dup r.(?) p.(Ile141Asnfs*10) Both (homozygous) - likely pathogenic g.59824383dup g.62157150dup - - PIGN_000063 - PubMed: Alessandri et al.2018 - - Germline yes - - - - DNA SEQ - Sanger sequencing FRNS Patient_6 PubMed: Alessandri 2018 - M yes - North African - - - - 1 Philippe Campeau
-?/. - c.426G>C r.(?) p.(Leu142=) Unknown - likely benign g.59824378C>G - PIGN(NM_176787.4):c.426G>C (p.L142=) - PIGN_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.484A>G r.(?) p.(Lys162Glu) Unknown - benign g.59821843T>C g.62154610T>C PIGN(NM_176787.5):c.484A>G (p.K162E) - PIGN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.528G>A r.(?) p.(Thr176=) Unknown - likely benign g.59821799C>T g.62154566C>T PIGN(NM_176787.4):c.528G>A (p.T176=) - PIGN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.531G>C r.(?) p.(Trp177Cys) Unknown - VUS g.59821796C>G - PIGN(NM_176787.5):c.531G>C (p.W177C) - PIGN_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.548_549+6del r.spl? p.? Unknown - pathogenic g.59821772_59821779del g.62154539_62154546del - - PIGN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.548_549+6del r.spl? p.? Maternal (confirmed) - likely pathogenic g.59821772_59821779del g.62154539_62154546del - - PIGN_000051 - PubMed: Fleming et al. 2016 - - Germline - - - - - DNA SEQ-NG - WES - Patient_4 PubMed: Fleming 2016 - F - - white - African American - - - - 1 Philippe Campeau
+?/. - c.600_603del r.(?) p.(Asn200Lysfs*4) Unknown - likely pathogenic g.59815520_59815523del - PIGN(NM_176787.4):c.600_603delTGAA (p.N200Kfs*4) - PIGN_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.614T>C r.(?) p.(Val205Ala) Unknown - VUS g.59815507A>G g.62148274A>G PIGN(NM_176787.4):c.614T>C (p.V205A) - PIGN_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.674+1G>A r.spl? p.? Unknown - pathogenic g.59815446C>T g.62148213C>T PIGN(NM_176787.5):c.674+1G>A - PIGN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675-4A>G r.spl? p.? Unknown - likely benign g.59814338T>C - PIGN(NM_176787.5):c.675-4A>G - PIGN_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.675-1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.59814335C>G g.62147102C>G - - PIGN_000084 - PubMed: Zhu 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio7 PubMed: Zhu 2015 - F - Israel - - - - - 1 Johan den Dunnen
-/. - c.685C>G r.(?) p.(His229Asp) Unknown - benign g.59814324G>C g.62147091G>C PIGN(NM_176787.4):c.685C>G (p.H229D), PIGN(NM_176787.5):c.685C>G (p.H229D) - PIGN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.685C>G r.(?) p.(His229Asp) Unknown - benign g.59814324G>C g.62147091G>C PIGN(NM_176787.4):c.685C>G (p.H229D), PIGN(NM_176787.5):c.685C>G (p.H229D) - PIGN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.694A>T r.0? p.(Lys232*) Both (homozygous) - likely pathogenic g.59814315T>A g.62147082T>A - - PIGN_000005 not in dbSNP, 1000 genomes, ExAC and 2000 internal controls PubMed: McInerney-Leo 2016 - - Germline yes - - - - DNA SEQ amniocytes - FRNS - PubMed: McInerney-Leo 2016 - ? ? Iraq - - - - - 1 Aideen McInerney-Leo
+?/. - c.694A>T r.(?) p.(Lys232*) Maternal (confirmed) - likely pathogenic g.59814315T>A g.62147082T>A - - PIGN_000005 - PubMed: Pagnamenta et al. 2017 - - Germline yes - - - - DNA SEQ-NG - WES epilepsy 259633 PubMed: Pagnamenta 2017 - F no - White British white - - - - 1 Philippe Campeau
?/. - c.709G>A r.(?) p.(Gly237Arg) Maternal (confirmed) - VUS g.59814300C>T g.62147067C>T - - PIGN_000055 - PubMed: Fleming et al. 2016 - - Germline - - - - - DNA SEQ-NG - WES - Patient_3 PubMed: Fleming 2016 - F - - African American - - - - 1 Philippe Campeau
?/. - c.736A>T r.(?) p.(Asn246Tyr) Unknown - VUS g.59814273T>A - PIGN(NM_176787.4):c.736A>T (p.N246Y) - PIGN_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.741C>T r.(?) p.(His247=) Unknown - benign g.59814268G>A g.62147035G>A PIGN(NM_176787.4):c.741C>T (p.H247=), PIGN(NM_176787.5):c.741C>T (p.H247=) - PIGN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.741C>T r.(?) p.(His247=) Unknown - benign g.59814268G>A g.62147035G>A PIGN(NM_176787.4):c.741C>T (p.H247=), PIGN(NM_176787.5):c.741C>T (p.H247=) - PIGN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.754G>A r.(?) p.(Asp252Asn) Unknown - VUS g.59814255C>T g.62147022C>T PIGN(NM_176787.4):c.754G>A (p.D252N) - PIGN_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.755A>T r.(?) p.(Asp252Val) Both (homozygous) - likely pathogenic g.59814254T>A g.62147021T>A - - PIGN_000057 - PubMed: Khayat et al. 2016 - - Germline - - - - - DNA SEQ-NG - WES MCAHS1;GPIBD3 - PubMed: Khayat 2016 - F yes - Israeli–Arab - - - - 1 Philippe Campeau
+?/. - c.790G>A r.(?) p.(Gly264Arg) Paternal (confirmed) - likely pathogenic g.59814219C>T g.62146986C>T - - PIGN_000058 - PubMed: Jezela-Stanek et al. 2016 - - Germline - - - - - DNA SEQ-NG peripheral blood WES - Patient_2 PubMed: Jezela-Stanek 2016 - F no - - - - - - 1 Philippe Campeau
+/. - c.790G>A r.(?) p.(Gly264Arg) Paternal (confirmed) - pathogenic g.59814219C>T g.62146986C>T - - PIGN_000058 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat6 PubMed: Pronicka 2016 - F - Poland - - - - - 1 Johan den Dunnen
-?/. - c.805+119A>G r.(=) p.(=) Unknown - likely benign g.59814085T>C g.62146852T>C PIGN(NM_176787.4):c.805+119A>G - PIGN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.808T>C r.(?) p.(Ser270Pro) Paternal (confirmed) - pathogenic g.59813256A>G g.62146023A>G - - PIGN_000002 expression of GPI-anchored proteins such as CD16 and CD24 on granulocytes was significantly decreased, and expression of CD59 in PIGN-knockout human embryonic kidney 293 cells was hardly restored suggesting complete loss of PIGN activity PubMed: Ohba 2014, OMIM:var0002 - rs587777186 Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MCAHS1;GPIBD3 - PubMed: Ohba 2014 2-generation family, 2 affected sibs (borther, sister) and unaffected heterozygous carrier parents - no Japan - <0d - - - 2 Philippe Campeau
+?/. - c.808T>C r.(?) p.(Ser270Pro) Paternal (confirmed) - likely pathogenic g.59813256A>G g.62146023A>G - - PIGN_000002 - PubMed: Nakagawa et al. 2015 - - Germline yes - - - - DNA SEQ-NG - Target exome sequencing of the 26 genes related to GPI-APs epilepsy, ID - PubMed: Nakagawa et al.2015 - M no Japan - - - - - 1 Philippe Campeau
+/. - c.824A>C r.(?) p.(His275Pro) Both (homozygous) - pathogenic g.59813240T>G g.62146007T>G - - PIGN_000068 Homozygous, Autosomal recessive - - - Germline - - - - - DNA SEQ-NG - WGS Illumina MCAHS1;GPIBD3 Fam1_Case1 PubMed: Thuresson et al. 2018 - F yes - - - - - - 1 Philippe Campeau
+/+ - c.824A>C r.(?) p.(His275Pro) Both (homozygous) - pathogenic g.59813240T>G g.62146007T>G - - PIGN_000068 - - - - Germline - - - - - DNA SEQ-NG - WGS Illumina MCAHS1;GPIBD3 Fam1, Case2 PubMed: Thuresson et al., 2018 - M yes - - - - - - 1 Philippe Campeau
+?/. - c.923-6T>G r.[923_963del,923_1023del,922_923ins[923-26_923-7;uuucag]] p.[Glu308Glyfs*2,Glu308Glyfs*9,Glu308Aspfs*19] Both (homozygous) - pathogenic (recessive) g.59810585A>C g.62143352A>C - - PIGN_000103 exon skipping, cryptic splice acceptor PubMed: Bournazos 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-RNA whole blood, fibroblasts, liver trio WES ? A040 PubMed: Bournazos 2022 family, affected 2 affected fetuses) - - Australia - - - - - 2 Johan den Dunnen
+?/. - c.932T>G r.(?) p.(Leu311Trp) Unknown - likely pathogenic g.59810570A>C g.62143337A>C - - PIGN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.932T>G r.(?) p.(Leu311Trp) Maternal (confirmed) - likely pathogenic g.59810570A>C g.62143337A>C - - PIGN_000050 - PubMed: Jezela-Stanek et al. 2016 - - Germline - - - - - DNA SEQ-NG peripheral blood WES - Patient_2 PubMed: Jezela-Stanek 2016 - F no - - - - - - 1 Philippe Campeau
+?/. - c.932T>G r.(?) p.(Leu311Trp) Paternal (confirmed) - likely pathogenic g.59810570A>C g.62143337A>C - - PIGN_000050 - PubMed: Pagnamenta et al. 2017 - - Germline yes - - - - DNA SEQ-NG - WES epilepsy 259633 PubMed: Pagnamenta 2017 - F no - White British white - - - - 1 Philippe Campeau
+/. - c.932T>G r.(?) p.(Leu311Trp) Maternal (confirmed) - pathogenic g.59810570A>C g.62143337A>C - - PIGN_000050 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat6 PubMed: Pronicka 2016 - F - Poland - - - - - 1 Johan den Dunnen
+/. 10 c.963G>A r.[923_963del, 963_964ins963+1_963+53] p.[Glu308Glyfs*2,Ala322Valfs*24] Maternal (confirmed) - pathogenic g.59810539C>T g.62143306C>T - - PIGN_000003 expression of GPI-anchored proteins such as CD16 and CD24 on granulocytes was significantly decreased, and expression of CD59 in PIGN-knockout human embryonic kidney 293 cells was hardly restored suggesting complete loss of PIGN activity PubMed: Ohba 2014, OMIM:var0003 - rs587777187 Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MCAHS1;GPIBD3 - PubMed: Ohba 2014 2-generation family, 2 affected sibs (borther, sister) and unaffected heterozygous carrier parents - no Japan - <0d - - - 2 Philippe Campeau
?/. - c.963G>A r.(=) p.(=) Paternal (confirmed) - VUS g.59810539C>T g.62143306C>T - - PIGN_000003 Compound heterozygous variant in PIGN. Known splice site mutation (c.963G>A) was inherited from father. - - - Germline - - - - - DNA SEQ, SEQ-NG Peripheral blood - MCAHS1;GPIBD3 Patient PubMed: Xu et al., 2017 - M - China Chinese >00y04m - - - 1 Philippe Campeau
?/. - c.968A>T r.(?) p.(Asp323Val) Unknown - VUS g.59807708T>A - PIGN(NM_176787.4):c.968A>T (p.(Asp323Val)) - PIGN_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.996T>G r.(?) p.(Ile332Met) Both (homozygous) - pathogenic g.59807680A>C g.62140447A>C NM_176787: c.T996G; p.I332M - PIGN_000009 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB5703 PubMed: Karaca 2015 - - - - - - - family structure in paper - 1 Johan den Dunnen
?/. 12 c.1004C>T r.(?) p.(Pro335Leu) Paternal (confirmed) ACMG VUS g.59807672G>A g.62140439G>A - - PIGN_000108 - - ClinVar-472204 rs753868318 Germline yes - - - - DNA SEQ-NG-I peripheral blood CES ? - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
-/. - c.1117-1A>G r.spl? p.? Unknown - benign g.59805532T>C g.62138299= PIGN(NM_176787.4):c.1117-1A>G, PIGN(NM_176787.5):c.1117-1A>G - PIGN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1117-1A>G r.spl? p.? Unknown - likely benign g.59805532T>C g.62138299= PIGN(NM_176787.4):c.1117-1A>G, PIGN(NM_176787.5):c.1117-1A>G - PIGN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1261T>C r.(?) p.(Cys421Arg) Parent #1 - pathogenic (recessive) g.59780540A>G g.62113307A>G - - PIGN_000085 - PubMed: Zhu 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio7 PubMed: Zhu 2015 - F - Israel - - - - - 1 Johan den Dunnen
-?/. - c.1333G>T r.(?) p.(Val445Phe) Unknown - likely benign g.59780468C>A g.62113235C>A PIGN(NM_012327.5):c.1333G>T (p.(Val445Phe)) - PIGN_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1377T>C r.(?) p.(Ser459=) Unknown - benign g.59780424A>G g.62113191A>G PIGN(NM_176787.4):c.1377T>C (p.S459=) - PIGN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1408A>T r.(?) p.(Ile470Leu) Unknown - benign g.59780393T>A g.62113160T>A PIGN(NM_176787.4):c.1408A>T (p.I470L) - PIGN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1434G>A r.(?) p.(Lys478=) Unknown - VUS g.59780367C>T g.62113134C>T PIGN(NM_012327.5):c.1434G>A (p.(=)), PIGN(NM_176787.4):c.1434G>A (p.K478=), PIGN(NM_176787.5):c.1434G>A (p.K478=) - PIGN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1434G>A r.(?) p.(Lys478=) Unknown - likely pathogenic g.59780367C>T g.62113134C>T PIGN(NM_012327.5):c.1434G>A (p.(=)), PIGN(NM_176787.4):c.1434G>A (p.K478=), PIGN(NM_176787.5):c.1434G>A (p.K478=) - PIGN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1434G>A r.(?) p.(Lys478=) Unknown - likely pathogenic g.59780367C>T g.62113134C>T PIGN(NM_012327.5):c.1434G>A (p.(=)), PIGN(NM_176787.4):c.1434G>A (p.K478=), PIGN(NM_176787.5):c.1434G>A (p.K478=) - PIGN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1434+5G>A r.spl? p.? Both (homozygous) - likely pathogenic g.59780362C>T g.62113129C>T - - PIGN_000008 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
+?/. - c.1434+5G>A r.spl? p.? Paternal (confirmed) - likely pathogenic g.59780362C>T g.62113129C>T - - PIGN_000008 - PubMed: Fleming et al. 2016 - - Germline - - - - - DNA ? - - - Patient_1 PubMed: Fleming 2016 - F no - white - - - - 2 Philippe Campeau
+?/. - c.1434+5G>A r.spl? p.? Paternal (confirmed) - likely pathogenic g.59780362C>T g.62113129C>T - - PIGN_000008 - PubMed: Fleming et al. 2016 - - Germline - - - - - DNA SEQ-NG - WES - Patient_2 PubMed: Fleming 2016 - F no - white - - - - 1 Philippe Campeau
+?/. - c.1434+5G>A r.spl? p.? Unknown - likely pathogenic g.59780362C>T - - - PIGN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1435-19G>A r.(=) p.(=) Unknown - likely benign g.59777225C>T - PIGN(NM_176787.4):c.1435-19G>A - PIGN_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1494dup r.(?) p.(Leu499Serfs*58) Unknown - pathogenic g.59777152dup - PIGN(NM_176787.5):c.1494dup (p.(Leu499Serfs*58)) - PIGN_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16i c.1574+1G>A r.1435_1574del p.Lys479Ilefs*31 Both (homozygous) - pathogenic g.59777066C>T g.62109833C>T - - PIGN_000004 - PubMed: Brady 2014 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MCAHS1;GPIBD3 - PubMed: Brady 2014 affected fetus, pregnancy terminated 16w gestation; unaffected heterozygous carrier parents - yes (Belgium) Africa, north <00y00m00d - - - 1 Philippe Campeau
+/. 18 c.1674+1G>C r.spl p.? Maternal (confirmed) - pathogenic g.59774218C>G g.62106985C>G - - PIGN_000006 - PubMed: McInerney-Leo 2016 - - Germline yes 0.000083 in ExAC - - - DNA SEQ amniocytes - FRNS - PubMed: McInerney-Leo 2016 - ? no - Scandinavian - - - - 1 Aideen McInerney-Leo
+?/. - c.1674+1G>C r.spl p.? Maternal (confirmed) ACMG pathogenic g.59774218C>G g.62106985C>G - - PIGN_000006 - - ClinVar-264640 rs376355678 Germline yes - - - - DNA SEQ-NG-I peripheral blood CES ? - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.1675-8A>G r.(=) p.(=) Unknown - likely benign g.59774122T>C - PIGN(NM_176787.4):c.1675-8A>G - PIGN_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1694G>A r.(?) p.(Arg565His) Unknown - VUS g.59774095C>T - - - PIGN_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1694G>T r.(?) p.(Arg565Leu) Maternal (confirmed) - VUS g.59774095C>A - - - PIGN_000097 - - - - Germline - - - - - DNA SEQ-NG - WES ID 188P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
?/. - c.1708G>A r.(?) p.(Ala570Thr) Unknown - VUS g.59774081C>T g.62106848C>T PIGN(NM_176787.5):c.1708G>A (p.A570T) - PIGN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1719T>C r.(?) p.(Thr573=) Unknown - likely benign g.59774070A>G - PIGN(NM_176787.4):c.1719T>C (p.T573=) - PIGN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19 c.1735C>T r.(?) p.(Pro579Ser) Paternal (confirmed) - pathogenic (recessive) g.59774054G>A g.62106821G>A - - PIGN_000065 - PubMed: Martinez 2017, Journal: Martinez 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 1256 gene panel ID 27620904-Pat27 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - 1 Johan den Dunnen
-/. - c.1752G>A r.(?) p.(Leu584=) Unknown - benign g.59774037C>T g.62106804C>T PIGN(NM_176787.4):c.1752G>A (p.L584=) - PIGN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 21 c.1966C>T r.0? p.(Gln656*) Paternal (confirmed) - likely pathogenic g.59770029G>A g.62102796G>A - - PIGN_000007 not in dbSNP, 1000 genomes, ExAC or 2000 internal controls PubMed: McInerney-Leo 2016 - - Germline yes - - - - DNA SEQ amniocytes - FRNS - PubMed: McInerney-Leo 2016 - ? no - Scandinavian - - - - 1 Aideen McInerney-Leo
?/. - c.1985T>C r.(?) p.(Leu662Pro) Unknown - VUS g.59768400A>G g.62101167A>G - - PIGN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2022A>G r.(?) p.(Leu674=) Unknown - likely benign g.59768363T>C g.62101130T>C PIGN(NM_176787.4):c.2022A>G (p.L674=) - PIGN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2033A>C r.(?) p.(Gln678Pro) Unknown - likely benign g.59768352T>G g.62101119T>G PIGN(NM_012327.5):c.2033A>C (p.(Gln678Pro)) - PIGN_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2077+63T>G r.(=) p.(=) Unknown - likely benign g.59768245A>C g.62101012A>C PIGN(NM_176787.4):c.2077+63T>G - PIGN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.