Full data view for gene JAM2

Information The variants shown are described using the NM_001270408.1 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.1A>G r.(?) p.0? Both (homozygous) ACMG pathogenic (recessive) g.27012134A>G g.25639822A>G M1? - JAM2_000006 - PubMed: Cen 2020 - - Germline - - - - - DNA SEQ - - PARK Fam2PatII2 PubMed: Cen 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents (first cousins) F yes China - - - - - 1 Johan den Dunnen
-?/. - c.21C>A r.(?) p.(His7Gln) Unknown - likely benign g.27012154C>A - JAM2(NM_021219.4):c.21C>A (p.(His7Gln)) - JAM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_4i c.(67+1_68-1)_(394+1_395-1)del r.68_394del p.Tyr23_Val131delinsLeu Maternal (confirmed) ACMG pathogenic (recessive) g.(27012201_27056194)_(27066221_27070988)del g.(25639889_25683882)_(25693909_25698676)del - - JAM2_000007 - PubMed: Cen 2020 - - Germline - - - - - DNA RT-PCR, SEQ - - PARK Fam3PatII1 PubMed: Cen 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
-/. - c.123A>G r.(?) p.(Val41=) Unknown - benign g.27056250A>G - JAM2(NM_021219.4):c.123A>G (p.V41=) - JAM2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.143del r.(?) p.(Leu48*) Both (homozygous) ACMG pathogenic (recessive) g.27062187del g.25689875del 140delT - JAM2_000008 - PubMed: Cen 2020 - - Germline yes - - - - DNA arraySNP, SEQ, SEQ-NG - - PARK Fam1PatII2 PubMed: Cen 2020 2-generation family, affected brother/sister, unaffected heterozygous carrier parents (first cousins) M yes China - - - - - 2 Johan den Dunnen
+/. - c.143del r.(?) p.(Leu48*) Both (homozygous) ACMG pathogenic (recessive) g.27062187del g.25689875del 140delT - JAM2_000008 - PubMed: Cen 2020 - - Germline yes - - - - DNA SEQ - - PARK Fam1PatII3 PubMed: Cen 2020 sister F yes China - - - - - 1 Johan den Dunnen
+?/. - c.177_180del r.(177_180del) p.(Arg60*) Unknown - pathogenic (recessive) g.27062221_27062224del g.25689909_25689912del 177_180delCAGA - JAM2_000005 - - - - Germline - - - - - RNA SEQ-NG - - IBGC - - - - - - - - - - - 1 Lucia Schottlaender
+/. - c.177_180del r.(?) p.(Arg60*) Both (homozygous) - pathogenic (recessive) g.27062221_27062224del g.25689909_25689912del 177_180delCAGA - JAM2_000005 - PubMed: Schottlaender 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES brain calcification Fam4PatII3 PubMed: Schottlaender 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - 1 Johan den Dunnen
+?/. - c.323G>A r.(323g>a) p.(Arg108His) Maternal (confirmed) - pathogenic (recessive) g.27066149G>A g.25693837G>A g.54566G>A - JAM2_000004 - - - - Germline yes - - - - RNA SEQ, SEQ-NG - - IBGC - - - - - - - - - - - 1 Lucia Schottlaender
+/. - c.323G>A r.(?) p.(Arg108His) Maternal (confirmed) - pathogenic (recessive) g.27066149G>A g.25693837G>A - - JAM2_000004 - PubMed: Schottlaender 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES brain calcification Fam3PatII1 PubMed: Schottlaender 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.395-1dup r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.27070988dup g.25698676dup 395-1dupG - JAM2_000003 - - - - Germline - - - - - RNA SEQ, SEQ-NG - - IBGC - - - - - - - - - - - 1 Lucia Schottlaender
+/. - c.395-1dup r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.27070988dup g.25698676dup 395-1dupG - JAM2_000003 - PubMed: Schottlaender 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES brain calcification Fam3PatII1 PubMed: Schottlaender 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.504G>C r.504g>c p.Trp168Cys Paternal (confirmed) ACMG pathogenic (recessive) g.27071098G>C g.25698786G>C - - JAM2_000009 - PubMed: Cen 2020 - - Germline - - - - - DNA RT-PCR, SEQ - - PARK Fam3PatII1 PubMed: Cen 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
-?/. - c.537C>T r.(?) p.(Pro179=) Unknown - likely benign g.27071131C>T - JAM2(NM_021219.4):c.537C>T (p.P179=) - JAM2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.685C>T r.(685c>u) p.(Arg229*) Both (homozygous) - pathogenic (recessive) g.27074569C>T g.25702257C>T g.62986C>T - JAM2_000002 - - - - Germline yes - - - - DNA SEQ, SEQ-NG - - IBGC - - - M yes United Kingdom (Great Britain) Gypsy 20y-30y - - - 1 Lucia Schottlaender
+?/. - c.685C>T r.(685c>u) p.(Arg229*) Both (homozygous) - pathogenic (recessive) g.27074569C>T g.25702257C>T g.62986C>T - JAM2_000002 - - - - Germline yes - - - - RNA SEQ, SEQ-NG - - IBGC - - - F;M yes Northern Ireland Gypsy 40y-50y - - - 4 Lucia Schottlaender
+/. - c.685C>T r.(?) p.(Arg229*) Both (homozygous) - pathogenic (recessive) g.27074569C>T g.25702257C>T - - JAM2_000002 - PubMed: Schottlaender 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES brain calcification Fam1PatII2 PubMed: Schottlaender 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes England - - - - - 1 Johan den Dunnen
+/. - c.685C>T r.(?) p.(Arg229*) Both (homozygous) - pathogenic (recessive) g.27074569C>T g.25702257C>T - - JAM2_000002 - PubMed: Schottlaender 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES brain calcification Fam2PatIII2 PubMed: Schottlaender 2020 3-generation family, 4 affected, (F, 3M) unaffected heterozygous carrier parents M yes Northern Ireland - - - - - 4 Johan den Dunnen
+/. - c.685C>T r.(?) p.(Arg229*) Both (homozygous) - pathogenic (recessive) g.27074569C>T g.25702257C>T - - JAM2_000002 - PubMed: Schottlaender 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES brain calcification Fam2PatIII3 PubMed: Schottlaender 2020 - F yes Northern Ireland - - - - - 1 Johan den Dunnen
+/. - c.685C>T r.(?) p.(Arg229*) Both (homozygous) - pathogenic (recessive) g.27074569C>T g.25702257C>T - - JAM2_000002 - PubMed: Schottlaender 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES brain calcification Fam2PatIII4 PubMed: Schottlaender 2020 - M yes Northern Ireland - - - - - 1 Johan den Dunnen
+/. - c.685C>T r.(?) p.(Arg229*) Both (homozygous) - pathogenic (recessive) g.27074569C>T g.25702257C>T - - JAM2_000002 - PubMed: Schottlaender 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES brain calcification Fam2PatIII3 PubMed: Schottlaender 2020 - F yes Northern Ireland - - - - - 1 Johan den Dunnen
-/. - c.*324del r.(?) p.(=) Unknown - benign g.27086941del - JAM2(NM_021219.4):c.865-11delT - JAM2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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