Full data view for gene GCNT2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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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.35C>T r.(?) p.(Ala12Val) Parent #1 - benign g.10529179C>T g.10528946C>T - - GCNT2_000039 - PubMed: Reis 2013 - rs150732107 Germline no - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat21 PubMed: Reis 2013 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.74A>G r.(?) p.(Asn25Ser) Unknown - likely benign g.10529218A>G g.10528985A>G GCNT2(NM_145649.4):c.74A>G (p.N25S) - GCNT2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.85_163del r.(?) p.(Trp29GlyfsTer11) Parent #1 - likely pathogenic (recessive) g.10529229_10529307del g.10528996_10529074del NM_001491.3:c.85_163del - GCNT2_000042 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam21Pat16736 PubMed: Guo 2025 family, several affected M - China - - - - - 2 Johan den Dunnen
?/. - c.122A>G r.(?) p.(Asn41Ser) Unknown - VUS g.10529266A>G - GCNT2(NM_145649.4):c.122A>G (p.N41S) - GCNT2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.473C>T r.(?) p.(Ser158Leu) Unknown - likely benign g.10529617C>T - GCNT2(NM_145649.4):c.473C>T (p.S158L) - GCNT2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Both (homozygous) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- - - DNA PCRdig, SEQ - - Ii - PubMed: Yu 2003 - ? - - white - - - - 1 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Both (homozygous) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- - - DNA PCRdig, SEQ - - Ii - PubMed: Yu 2003 - ? - - white - - - - 1 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Both (homozygous) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- - - DNA PCRdig, SEQ - - Ii - PubMed: Yu 2003 - ? - - white - - - - 1 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Both (homozygous) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- - - DNA PCRdig, SEQ - - Ii - PubMed: Yu 2003 - ? - - white - - - - 1 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Both (homozygous) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- - - DNA PCRdig, SEQ - - Ii - PubMed: Yu 2003 - ? - - white - - - - 1 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Parent #1 - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- - - DNA PCRdig, SEQ - - Ii - PubMed: Yu 2003 - ? - - white - - - - 1 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Unknown - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 1/102 control chromosomes PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- - - DNA PCRdig - - Healthy/Control - PubMed: Yu 2003 - ? - - white - - - - 51 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.Ala169Thr Unknown - NA g.10529649G>A g.10529416G>A - - GCNT2_000004 expression cloning COS7-cells, no GlcNAc-transferase enzyme activity PubMed: Yu 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.652G>A r.(?) p.(Gly218Arg) Unknown - VUS g.10529796G>A - GCNT2(NM_145649.4):c.652G>A (p.G218R) - GCNT2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.683G>A r.(?) p.(Arg228Gln) Parent #2 - pathogenic g.10529827G>A g.10529594G>A - - GCNT2_000005 not in 102 control chromosomes PubMed: Yu 2003, OMIM:var0005 - - Unknown ? - - - - DNA PCRdig, SEQ - - Ii - PubMed: Yu 2003 - ? - - white - - - - 1 Johan den Dunnen
+/? 3 c.683G>A r.(?) p.Arg228Gln Unknown - NA g.10529827G>A g.10529594G>A - - GCNT2_000005 expression cloning COS7-cells, no GlcNAc-transferase enzyme activity PubMed: Yu 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.699C>T r.(?) p.(His233=) Unknown - likely benign g.10529843C>T g.10529610C>T GCNT2(NM_145649.4):c.699C>T (p.H233=) - GCNT2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 3 c.816C>G r.(?) p.(Asp272Glu) Parent #1 - benign g.10529960C>G g.10529727C>G 816G>C (E272D) - GCNT2_000007 - PubMed: Inaba 2003 - - Germline yes - - - - DNA PCR, SEQ - - CTRCT13, Ii - PubMed: Inaba 2003 3-generation family, 3 affecteds, unaffected carrier parents and children - no Japan - - - - - 3 Johan den Dunnen
-/? 3 c.816C>G r.(?) p.(Asp272Glu) Parent #1 - benign g.10529960C>G g.10529727C>G 816G>C (E272D) - GCNT2_000007 - PubMed: Inaba 2003 - - Unknown - 2/8 chromosomes - - - DNA PCR, SEQ - - - - PubMed: Inaba 2003 controls - - Japan - - - - - 4 Johan den Dunnen
-/? 3 c.816C>G r.(?) p.Asp272Glu Unknown - NA g.10529960C>G g.10529727C>G - - GCNT2_000007 expression cloning CHO cells, normal I-antigen expression PubMed: Inaba 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.862T>C r.(?) p.(Ser288Pro) Unknown - likely benign g.10530006T>C - GCNT2(NM_145649.4):c.862T>C (p.S288P) - GCNT2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.892G>A r.(?) p.(Glu298Lys) Parent #1 - VUS g.10530036G>A g.10529803G>A - - GCNT2_000040 - PubMed: Reis 2013 - rs139794913 Germline no - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat7 PubMed: Reis 2013 4-generation family, 7 affected (3F, 4M)/1 unaffected - - United States Italy - - - - 1 Johan den Dunnen
-?/. - c.925+26841C>G r.(=) p.(=) Unknown - likely benign g.10556910C>G g.10556677C>G GCNT2(NM_001491.2):c.254C>G (p.P85R) - GCNT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925+26841C>G r.(=) p.(=) Unknown - VUS g.10556910C>G - GCNT2(NM_001491.2):c.254C>G (p.P85R) - GCNT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925+26917G>A r.(=) p.(=) Parent #1 - VUS g.10556986G>A g.10556753G>A - - GCNT2_000022 conflicting interpretations of pathogenicity; 57 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35537333 Germline - 57/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 57 Mohammed Faruq
-?/. - c.925+26983T>C r.(=) p.(=) Unknown - likely benign g.10557052T>C g.10556819T>C GCNT2(NM_001491.2):c.396T>C (p.T132=) - GCNT2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925+27063A>G r.(=) p.(=) Unknown - VUS g.10557132A>G - GCNT2(NM_001491.3):c.476A>G (p.Y159C) - GCNT2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.925+27104A>G r.(=) p.(=) Unknown - benign g.10557173A>G g.10556940A>G GCNT2(NM_001491.2):c.517A>G (p.R173G) - GCNT2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.925+27139C>A r.(=) p.(=) Unknown - likely pathogenic g.10557208C>A - GCNT2(NM_001491.2):c.552C>A (p.Y184*) - GCNT2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.925+27217T>G r.(=) p.(=) Unknown - likely benign g.10557286T>G - GCNT2(NM_001491.2):c.630T>G (p.G210=) - GCNT2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925+27345C>G r.(=) p.(=) Unknown - VUS g.10557414C>G g.10557181C>G - - GCNT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.925+27347dup r.(=) p.(=) Unknown - likely pathogenic g.10557416dup - GCNT2(NM_001491.2):c.760dupC (p.H254Pfs*2), GCNT2(NM_001491.3):c.760dupC (p.H254Pfs*2) - GCNT2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.925+27347dup r.(=) p.(=) Unknown - likely pathogenic g.10557416dup - GCNT2(NM_001491.2):c.760dupC (p.H254Pfs*2), GCNT2(NM_001491.3):c.760dupC (p.H254Pfs*2) - GCNT2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3i c.926-35119T>A r.(=) p.(=) Both (homozygous) - pathogenic g.10586465T>A g.10586232T>A - - GCNT2_000008 del 2nd allele not excluded; not in 116 control chromosomes PubMed: Lin 2006 - - Unknown - - TflI- - - DNA PCR, PCRdig, SEQ - - Ii - PubMed: Lin 2006 2-generation family, affected parent - - Taiwan - - - - - 1 Johan den Dunnen
?/? 3i c.926-35119T>A r.(=) p.(=) Parent #1 - pathogenic g.10586465T>A g.10586232T>A - - GCNT2_000008 - PubMed: Lin 2006 - - Germline - - - - - DNA PCRdig - - - - PubMed: Lin 2006 2-generation family, unaffected carrier daugther F - Taiwan - - - - - 1 Johan den Dunnen
?/? 3i c.926-35119T>A - p.(=) Unknown - NA g.10586465T>A g.10586232T>A - - GCNT2_000008 expression cloning COS-7 cells, only residual GlcNAc-transferring activity PubMed: Lin 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.926-34857G>A r.(?) p.(=) Unknown - VUS g.10586727G>A g.10586494G>A - - GCNT2_000038 variant not associated with cataract PubMed: Prokudin 2014 - rs56106312 Germline - - - - - DNA SEQ, SEQ-NG-I - - CTRCT Fam4PatI2;Fam8PatI2 PubMed: Prokudin 2014, PubMed: Ma 2016 2-generation family, 3 affected (mother/twin sons) F - Australia - - - - - 3 Ivan Prokudin
-/. - c.926-34827G>A r.(=) p.(=) Unknown - benign g.10586757G>A g.10586524G>A GCNT2(NM_145655.3):c.535G>A (p.A179T) - GCNT2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.926-34559C>T r.(=) p.(=) Unknown - VUS g.10587025C>T - GCNT2(NM_145655.3):c.803C>T (p.A268V) - GCNT2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.926-34546C>G r.(=) p.(=) Unknown - benign g.10587038C>G g.10586805C>G GCNT2(NM_145655.4):c.816C>G (p.D272E) - GCNT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.926-34546C>G r.(=) p.(=) Unknown - likely benign g.10587038C>G g.10586805C>G GCNT2(NM_145655.4):c.816C>G (p.D272E) - GCNT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.926-34546C>G r.(?) p.(=) Both (homozygous) - likely benign g.10587038C>G g.10586805C>G - - GCNT2_000012 - PubMed: Behnam 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT family PubMed: Behnam 2016 6-generation family, 2 affected brothers, unaffected heterozygous parents/relatives M - Iran - - - - - 2 Johan den Dunnen
-/. - c.926-34528A>G r.(=) p.(=) Unknown - benign g.10587056A>G g.10586823A>G - - GCNT2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.926-34498A>G - - Unknown - benign g.10587086A>G - NM_145655:c.A864G (Q288Q) - GCNT2_000034 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0115 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Both (homozygous) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes; mapped by linkage analysis PubMed: Pras 2004 - - Germline yes - - - - DNA SEQ - - CTRCT13, Ii - PubMed: Pras 2004 6-generation family, 5 affecteds (4F, 1M) - yes Israel Arab - - - - 5 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Parent #1 - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - - - DNA SEQ - - Healthy/Control - - 6-generation family, 4 unaffected carrier parents - yes Israel Arab - - - - 4 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Both (homozygous) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - - - DNA SEQ - - CTRCT13, Ii - PubMed: Pras 2004 5-generation family, 1 affected M yes Israel - - - - - 1 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Parent #1 - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - - - DNA SEQ - - Healthy/Control - - 5-generation family, unaffected carrier parents - - Israel Arab - - - - 2 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Both (homozygous) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - - - DNA SEQ - - CTRCT13, Ii - - 3-generation family, 4 affecteds (3F, 1M) - yes Israel Arab - - - - 4 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Parent #1 - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - - - DNA SEQ - - Healthy/Control - - 3-generation family, 4 unaffected carrier parents - yes Israel - - - - - 4 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Both (homozygous) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - - - DNA SEQ - - CTRCT13, Ii - - 5-generaion family, 3 affecteds (2F, 1M) - yes Israel Arab - - - - 3 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Parent #1 - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - - - DNA SEQ - - Healthy/Control - - 5-generation family, 6 unaffected carriers - yes Israel Arab - - - - 6 Johan den Dunnen
?/? 4 c.1006G>A r.(?) p.(Gly336Arg) Parent #2 - pathogenic g.10621664G>A g.10621431G>A - - GCNT2_000006 - PubMed: Inaba 2003 - - Germline yes - - - - DNA PCR, SEQ - - CTRCT13, Ii - PubMed: Inaba 2003 3-generation family, 3 affecteds, unaffected carrier parents and children - no Japan - - - - - 3 Johan den Dunnen
?/? 4 c.1006G>A - p.(Gly336Arg) Unknown - NA g.10621664G>A g.10621431G>A - - GCNT2_000006 expression cloning CHO cells, no I-antigen expression PubMed: Inaba 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1025A>G r.(?) p.(Tyr342Cys) Both (homozygous) - pathogenic (recessive) g.10626656A>G g.10626423A>G NM_001491.2:c.1019A>G - GCNT2_000041 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 12DG2168 PubMed: Patel 2017 family - - - - - - - - 2 Johan den Dunnen
+/. - c.1040G>A r.(?) p.(Cys347Tyr) Both (homozygous) - pathogenic (recessive) g.10626671G>A g.10626438G>A 1040A>G (Tyr347Cys) - GCNT2_000035 - PubMed: Aldahmesh 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Cata_DGU-9;Fam21 PubMed: Aldahmesh 2012, PubMed: Khan 2015 family, 2 affected sibs (F, M), unaffected heterozygous parents - yes Saudi Arabia - - - - - 2 Johan den Dunnen
+/. - c.1046A>G r.(?) p.(Tyr347Cys) Both (homozygous) - pathogenic (recessive) g.10626677A>G g.10626444A>G NM_001491.2:c.1040A>C (Tyr347Cys) - GCNT2_000025 no variant 2nd chromosome PubMed: Slavotinek 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Slavotinek 2015 - F - United States Hispanic - - - - 1 Johan den Dunnen
+/. - c.1046A>G r.(?) p.(Tyr349Cys) Both (homozygous) - pathogenic (recessive) g.10626677A>G g.10626444A>G NM_001491.2:c.1040A>G - GCNT2_000025 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 09DG01467 PubMed: Patel 2017 family - - - - - - - - 2 Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) Maternal (confirmed) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - rs56141211 Germline yes - - - - DNA SEQ - - CTRCT13, Ii - PubMed: Yu 2001 2-generation family, 2 affecteds F no Taiwan - - - - - 1 Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) Maternal (confirmed) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - - - DNA SEQ - - CTRCT13, Ii - PubMed: Yu 2001 2-generation family, 2 affecteds F no Taiwan - - - - - 1 Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) Both (homozygous) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - CTRCT13, Ii - PubMed: Yu 2001 3-generation family, 2 affecteds F no Taiwan - - - - - 1 Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) Both (homozygous) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - - - DNA SEQ - - CTRCT13, Ii - PubMed: Yu 2001 3-generation family, 2 affecteds M no Taiwan - - - - - 1 Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) Parent #1 - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - - - DNA SSCA - - Healthy/Control - PubMed: Yu 2001 3-generation family, 5 unaffected carriers ? no Taiwan - - - - - 4 Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) Unknown - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - - - DNA SSCA - - Healthy/Control - PubMed: Yu 2001 2-generation family, 2 unaffected carriers (mother, sister) F no Taiwan - - - - - 2 Johan den Dunnen
+/? 5 c.1049G>A r.1049g>a p.Gly350Glu Unknown - NA g.10626680G>A g.10626447G>A - - GCNT2_000001 expression cloning COS7-cells, no GlcNAc-transferase enzyme activity PubMed: Yu 2001, PubMed: Yu 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.1049G>A r.(?) p.(Gly350Glu) Parent #1 - pathogenic g.10626680G>A g.10626447G>A - - GCNT2_000001 - PubMed: Inaba 2003 - - Germline yes - - - - DNA PCR, SEQ - - CTRCT13, Ii - PubMed: Inaba 2003 3-generation family, 3 affecteds, unaffected carrier parents and children - no Japan - - - - - 3 Johan den Dunnen
?/? 5 c.1049G>A - p.(Gly350Glu) Unknown - NA g.10626680G>A g.10626447G>A - - GCNT2_000001 expression cloning CHO cells, no I-antigen expression PubMed: Inaba 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1049G>A r.(?) p.(Gly350Glu) Maternal (confirmed) - pathogenic (recessive) g.10626680G>A g.10626447G>A NM_001491.2:c.1043G>A - GCNT2_000001 - PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT Fam9PatII1/2 PubMed: Li 2018 2-generation family, 2 affected sisters, unaffected heterozygous parents F - China - - - - - 2 Johan den Dunnen
+/. - c.1049G>A r.(?) p.(Gly350Glu) Paternal (confirmed) - pathogenic (recessive) g.10626680G>A g.10626447G>A NM_001491.2:c.1043G>A - GCNT2_000001 - PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT FamPat5 PubMed: Li 2018 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - 1 Johan den Dunnen
+?/. - c.1049G>A r.(?) p.(Gly350Glu) Parent #1 - likely pathogenic (recessive) g.10626680G>A g.10626447G>A NM_001491.3:c.1043G>A - GCNT2_000001 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam22Pat19714 PubMed: Guo 2025 patient, no family history F - China - - - - - 1 Johan den Dunnen
-?/. - c.1053C>T r.(?) p.(Asn351=) Unknown - likely benign g.10626684C>T - GCNT2(NM_001491.2):c.1047C>T (p.N349=) - GCNT2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1058A>T r.(?) p.(Asp353Val) Unknown - VUS g.10626689A>T g.10626456A>T - - GCNT2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1091T>C r.(?) p.(Phe364Ser) Both (homozygous) ACMG likely pathogenic (dominant) g.10626722T>C g.10626489T>C - - GCNT2_000036 no variant 2nd chromosome PubMed: Javadiyan 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CTRCT CRCH89 PubMed: Javadiyan 2017 2-generation family, 4 affected sibs (2F, 2M) F;M yes Australia - - - - - 4 Johan den Dunnen
?/? - c.1154G>A r.(?) p.(Arg385His) Paternal (confirmed) - pathogenic g.10626785G>A g.10626552G>A 1148G>A (Arg383His) - GCNT2_000002 - PubMed: Yu 2001, OMIM:var0002 - - Germline yes - - - - DNA SEQ - - CTRCT13, Ii - PubMed: Yu 2001 2-generation family, 2 affecteds F no Taiwan - - - - - 1 Johan den Dunnen
?/? - c.1154G>A r.(?) p.(Arg385His) Paternal (confirmed) - pathogenic g.10626785G>A g.10626552G>A 1148G>A (Arg383His) - GCNT2_000002 - PubMed: Yu 2001, OMIM:var0002 - - Germline yes - - - - DNA SEQ - - CTRCT13, Ii - PubMed: Yu 2001 2-generation family, 2 affecteds F no Taiwan - - - - - 1 Johan den Dunnen
?/? - c.1154G>A r.(?) p.(Arg385His) Unknown - pathogenic g.10626785G>A g.10626552G>A 1148G>A (Arg383His) - GCNT2_000002 - PubMed: Yu 2001, OMIM:var0002 - - Germline yes - - - - DNA SSCA - - Healthy/Control - PubMed: Yu 2001 1-generation family, unaffected carrier (father) M no Taiwan - - - - - 1 Johan den Dunnen
+/? 5 c.1154G>A r.1154g>a p.Arg385His Unknown - NA g.10626785G>A g.10626552G>A - - GCNT2_000002 expression cloning COS7-cells, no GlcNAc-transferase enzyme activity PubMed: Yu 2001, PubMed: Yu 2003 - rs55940927 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1154G>A r.(?) p.(Arg385His) Paternal (confirmed) - pathogenic (recessive) g.10626785G>A g.10626552G>A NM_001491.2:c.1148G>A - GCNT2_000002 - PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT Fam9PatII1/2 PubMed: Li 2018 2-generation family, 2 affected sisters, unaffected heterozygous parents F - China - - - - - 2 Johan den Dunnen
+/. - c.1154G>A r.(?) p.(Arg385His) Maternal (confirmed) - pathogenic (recessive) g.10626785G>A g.10626552G>A NM_001491.2:c.1148G>A - GCNT2_000002 - PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT FamPat5 PubMed: Li 2018 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - 1 Johan den Dunnen
+?/. - c.1154G>A r.(?) p.(Arg385His) Parent #2 - likely pathogenic (recessive) g.10626785G>A g.10626552G>A NM_001491.3:c.1148G>A - GCNT2_000002 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam22Pat19714 PubMed: Guo 2025 patient, no family history F - China - - - - - 1 Johan den Dunnen
-?/. - c.1155C>T r.(?) p.(Arg385=) Unknown - likely benign g.10626786C>T - GCNT2(NM_001491.2):c.1149C>T (p.R383=) - GCNT2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1169_1172del r.(?) p.(Asn390ArgfsTer20) Both (homozygous) ACMG VUS g.10626800_10626803del g.10626567_10626570del 1169_1172delATCA - GCNT2_000037 - PubMed: Javadiyan 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CTRCT CRCH136 PubMed: Javadiyan 2017 2-generation family, affected brother/sister F;M - Australia - - - - - 2 Johan den Dunnen
+?/. - c.1169_1172del r.(?) p.(Asn390ArgfsTer20) Parent #2 - likely pathogenic (recessive) g.10626800_10626803del g.10626567_10626570del NM_001491.3:c.1160_1163del - GCNT2_000037 - PubMed: Guo 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT Fam21Pat16736 PubMed: Guo 2025 family, several affected M - China - - - - - 2 Johan den Dunnen
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