Full data view for gene JAG2

Information The variants shown are described using the NM_002226.4 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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     
+/. _1_26_ c.-403_*1714{0} r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(?_104000000)_(107260000_?)del - 14q32.33del - JAG2_000004 3.2 Mb terminal deletion PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD US1PatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected M no United States - - 0 - - 1 LOVD
+/. - c.221G>C r.(?) p.(Cys74Ser) Parent #1 - pathogenic (recessive) g.105634290C>G g.105167953C>G - - JAG2_000018 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD US2PatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected sister F no United States - - 0 - - 2 LOVD
+/. - c.221G>C r.(?) p.(Cys74Ser) Parent #1 - pathogenic (recessive) g.105634290C>G g.105167953C>G - - JAG2_000018 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD US2PatII3 PubMed: Coppens 2021, Journal: Coppens 2021 sister F no United States - - 0 - - 1 LOVD
+/. - c.283A>G r.(?) p.(Thr95Ala) Parent #1 - pathogenic (recessive) g.105634228T>C g.105167891T>C - - JAG2_000017 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD ESTPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected F no Estonia - - 0 - - 1 LOVD
+/. - c.490G>A r.(?) p.(Glu164Lys) Both (homozygous) - pathogenic (recessive) g.105622312C>T g.105155975C>T - - JAG2_000016 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD IRAPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected M no Iran - - 0 - - 1 LOVD
+/. - c.493C>T r.(?) p.(Arg165Ter) Parent #1 - pathogenic (recessive) g.105622309G>A g.105155972G>A - - JAG2_000015 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD US3PatII2 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected M no United States - - 0 - - 1 LOVD
+/. - c.728C>A r.(?) p.(Ala243Asp) Both (homozygous) - pathogenic (recessive) g.105621959G>T g.105155622G>T - - JAG2_000014 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD BELPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected sister F yes Morocco - - 0 - - 2 LOVD
+/. - c.728C>A r.(?) p.(Ala243Asp) Both (homozygous) - pathogenic (recessive) g.105621959G>T g.105155622G>T - - JAG2_000014 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD BELPatII2 PubMed: Coppens 2021, Journal: Coppens 2021 sister F yes Morocco - - 0 - - 1 LOVD
+/. - c.1073A>T r.(?) p.(Asn358Ile) Both (homozygous) - pathogenic (recessive) g.105618043T>A g.105151706T>A - - JAG2_000013 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD EGYPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 3 affected (F, 2M) F yes Egypt - - 0 - - 3 LOVD
+/. - c.1073A>T r.(?) p.(Asn358Ile) Both (homozygous) - pathogenic (recessive) g.105618043T>A g.105151706T>A - - JAG2_000013 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD EGYPatII2 PubMed: Coppens 2021, Journal: Coppens 2021 brother M yes Egypt - - 0 - - 1 LOVD
+/. - c.1073A>T r.(?) p.(Asn358Ile) Both (homozygous) - pathogenic (recessive) g.105618043T>A g.105151706T>A - - JAG2_000013 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD EGYPatII3 PubMed: Coppens 2021, Journal: Coppens 2021 brother M yes Egypt - - 0 - - 1 LOVD
+/. - c.1245_1246del r.(?) p.(Trp415CysfsTer11) Parent #2 - pathogenic (recessive) g.105617642_105617643del g.105151305_105151306del - - JAG2_000012 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD US3PatII2 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected M no United States - - 0 - - 1 LOVD
+?/. - c.1791G>A r.(?) p.(Met597Ile) Unknown - VUS g.105615389C>T g.105149052C>T M597I - JAG2_000003 - PubMed: Vieira 2005 - - Germline/De novo (untested) - - - 0 - DNA SEQ - candidate gene panel OFC patient PubMed: Vieira 2005 - - - (Philippines);(United States) - - 0 - - 1 Johan den Dunnen
+?/. - c.2044C>T r.(?) p.(Pro682Ser) Both (homozygous) - likely pathogenic (recessive) g.105614753G>A g.105148416G>A - - JAG2_000011 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD UKPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected (F, M) F no United Kingdom (Great Britain) - - 0 - - 2 LOVD
+?/. - c.2044C>T r.(?) p.(Pro682Ser) Both (homozygous) - likely pathogenic (recessive) g.105614753G>A g.105148416G>A - - JAG2_000011 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD UKPatII2 PubMed: Coppens 2021, Journal: Coppens 2021 brother M no United Kingdom (Great Britain) - - 0 - - 1 LOVD
+?/. - c.2044C>T r.(?) p.(Pro682Ser) Both (homozygous) - likely pathogenic (recessive) g.105614753G>A g.105148416G>A - - JAG2_000011 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD UAEPatII4 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected (F, M) M yes United Arab Emirates - - 0 - - 2 LOVD
+/. - c.2105_2107del r.(?) p.(Asp702del) Parent #2 - pathogenic (recessive) g.105614695_105614697del g.105148358_105148360del - - JAG2_000010 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD UK2PatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected (F, M) F no United Kingdom (Great Britain) - - 0 - - 2 LOVD
+/. - c.2105_2107del r.(?) p.(Asp702del) Parent #2 - pathogenic (recessive) g.105614695_105614697del g.105148358_105148360del - - JAG2_000010 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD UK2PatII2 PubMed: Coppens 2021, Journal: Coppens 2021 brother M no United Kingdom (Great Britain) - - 0 - - 1 LOVD
+/. - c.2134C>T r.(?) p.(Arg712Cys) Both (homozygous) - pathogenic (recessive) g.105614663G>A g.105148326G>A - - JAG2_000009 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD GERPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 3 affected brothers M yes Sri Lanka - - 0 - - 3 LOVD
+/. - c.2134C>T r.(?) p.(Arg712Cys) Both (homozygous) - pathogenic (recessive) g.105614663G>A g.105148326G>A - - JAG2_000009 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD GERPatII2 PubMed: Coppens 2021, Journal: Coppens 2021 brother M yes Sri Lanka - - 0 - - 1 LOVD
+/. - c.2134C>T r.(?) p.(Arg712Cys) Both (homozygous) - pathogenic (recessive) g.105614663G>A g.105148326G>A - - JAG2_000009 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD GERPatII4 PubMed: Coppens 2021, Journal: Coppens 2021 brother M yes Sri Lanka - - 0 - - 1 LOVD
?/. - c.2168A>G r.(?) p.(Asn723Ser) Unknown - VUS g.105614533T>C g.105148196T>C JAG2(NM_002226.5):c.2168A>G (p.N723S) - JAG2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2473C>T r.(?) p.(Arg825Cys) Parent #2 - pathogenic (recessive) g.105613669G>A g.105147332G>A - - JAG2_000008 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD ESTPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected F no Estonia - - 0 - - 1 LOVD
+/. - c.2515G>A r.(?) p.(Gly839Arg) Parent #1 - pathogenic (recessive) g.105613026C>T g.105146689C>T - - JAG2_000007 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD US1PatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected M no United States - - 0 - - 1 LOVD
+/. - c.2515G>A r.(?) p.(Gly839Arg) Both (homozygous) - pathogenic (recessive) g.105613026C>T g.105146689C>T - - JAG2_000007 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD POLPatII3 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 3 affected (2F, M) F no Poland - - 0 - - 3 LOVD
+/. - c.2515G>A r.(?) p.(Gly839Arg) Both (homozygous) - pathogenic (recessive) g.105613026C>T g.105146689C>T - - JAG2_000007 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD POLPatII4 PubMed: Coppens 2021, Journal: Coppens 2021 sister F no Poland - - 0 - - 1 LOVD
+/. - c.2515G>A r.(?) p.(Gly839Arg) Both (homozygous) - pathogenic (recessive) g.105613026C>T g.105146689C>T - - JAG2_000007 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD POLPatII5 PubMed: Coppens 2021, Journal: Coppens 2021 brother M no Poland - - 0 - - 1 LOVD
+/. - c.2515G>A r.(?) p.(Gly839Arg) Parent #2 - pathogenic (recessive) g.105613026C>T g.105146689C>T - - JAG2_000007 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD US2PatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected sister F no United States - - 0 - - 2 LOVD
+/. - c.2515G>A r.(?) p.(Gly839Arg) Parent #2 - pathogenic (recessive) g.105613026C>T g.105146689C>T - - JAG2_000007 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD US2PatII3 PubMed: Coppens 2021, Journal: Coppens 2021 sister F no United States - - 0 - - 1 LOVD
+/. - c.2930T>C r.(?) p.(Phe977Ser) Both (homozygous) - pathogenic (recessive) g.105612090A>G g.105145753A>G - - JAG2_000006 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD FRAPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected M no France - - 0 - - 1 LOVD
-?/. - c.3024C>T r.(?) p.(Arg1008=) Unknown - likely benign g.105611327G>A - JAG2(NM_002226.5):c.3024C>T (p.R1008=) - JAG2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3143_3147dup r.(?) p.(Val1050ProfsTer322) Parent #1 - pathogenic (recessive) g.105609913_105609917dup g.105143576_105143580dup - - JAG2_000005 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD UK2PatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected (F, M) F no United Kingdom (Great Britain) - - 0 - - 2 LOVD
+/. - c.3143_3147dup r.(?) p.(Val1050ProfsTer322) Parent #1 - pathogenic (recessive) g.105609913_105609917dup g.105143576_105143580dup - - JAG2_000005 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD UK2PatII2 PubMed: Coppens 2021, Journal: Coppens 2021 brother M no United Kingdom (Great Britain) - - 0 - - 1 LOVD
-?/. - c.3476G>A r.(?) p.(Arg1159His) Unknown - likely benign g.105609273C>T g.105142936C>T JAG2(NM_002226.5):c.3476G>A (p.R1159H) - JAG2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3541G>A r.(?) p.(Glu1181Lys) Unknown - VUS g.105609208C>T - JAG2(NM_002226.5):c.3541G>A (p.E1181K) - JAG2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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