Full data view for gene JKAMP

Information The variants shown are described using the NM_016475.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.110G>A r.(?) p.(Gly37Glu) Both (homozygous) - likely pathogenic (recessive) g.59954405G>A g.59487687G>A - - JKAMP_000001 - PubMed: Chacon-Millan 2026 SCV006279837 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam6PatII1 PubMed: Chacon-Millan 2026 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Saudi Arabia Arab - - - - 1 Johan den Dunnen
+?/. - c.110G>A r.(?) p.(Gly37Glu) Both (homozygous) - likely pathogenic (recessive) g.59954405G>A g.59487687G>A - - JKAMP_000001 - PubMed: Chacon-Millan 2026 SCV006279837 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam6PatII2 PubMed: Chacon-Millan 2026 brother M yes Saudi Arabia Arab - - - - 1 Johan den Dunnen
+/. - c.243dup r.(?) p.(Lys82GlufsTer16) Both (homozygous) - pathogenic (recessive) g.59954538dup g.59487820dup - - JKAMP_000002 - PubMed: Chacon-Millan 2026 SCV006279772 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3PatII4 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey Europe - - - - 1 Johan den Dunnen
+/. - c.243dup r.(?) p.(Lys82GlufsTer16) Both (homozygous) - pathogenic (recessive) g.59954538dup g.59487820dup - - JKAMP_000002 - PubMed: Chacon-Millan 2026 SCV006279772 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatII1 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia Arab - - - - 1 Johan den Dunnen
+/. - c.243dup r.(?) p.(Lys82GlufsTer16) Both (homozygous) - pathogenic (recessive) g.59954538dup g.59487820dup - - JKAMP_000002 - PubMed: Chacon-Millan 2026 SCV006279772 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5PatVI3 PubMed: Chacon-Millan 2026 6-generation family, 1 affected, unaffected heterozygous carrier parents M yes Switzerland Europe - - - - 1 Johan den Dunnen
+/. - c.243dup r.(?) p.(Lys82GlufsTer16) Both (homozygous) - pathogenic (recessive) g.59954538dup g.59487820dup - - JKAMP_000002 - PubMed: Chacon-Millan 2026 SCV006279772 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam7PatII1 PubMed: Chacon-Millan 2026 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F yes United States Europe;Mennonite - - - - 1 Johan den Dunnen
+/. - c.243dup r.(?) p.(Lys82GlufsTer16) Both (homozygous) - pathogenic (recessive) g.59954538dup g.59487820dup - - JKAMP_000002 - PubMed: Chacon-Millan 2026 SCV006279772 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam7PatII2 PubMed: Chacon-Millan 2026 sister F yes United States Europe;Mennonite - - - - 1 Johan den Dunnen
+/. - c.243dup r.(?) p.(Lys82GlufsTer16) Both (homozygous) - pathogenic (recessive) g.59954538dup g.59487820dup - - JKAMP_000002 - PubMed: Chacon-Millan 2026 SCV006279772 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam7PatII3 PubMed: Chacon-Millan 2026 brother M yes United States Europe;Mennonite - - - - 1 Johan den Dunnen
+?/. - c.380A>G r.(?) p.(Asp127Gly) Parent #1 - likely pathogenic (recessive) g.59961864A>G g.59495146A>G - - JKAMP_000003 - PubMed: Chacon-Millan 2026 SCV006275840 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1PatII1 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy Europe - - - - 1 Johan den Dunnen
+?/. - c.443A>G r.(?) p.(Glu148Gly) Parent #1 - likely pathogenic (recessive) g.59961927A>G g.59495209A>G - - JKAMP_000004 - PubMed: Chacon-Millan 2026 SCV006279838 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8PatII1 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany;Ireland Europe - - - - 1 Johan den Dunnen
+/. - c.458+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.59961943G>C g.59495225G>C - - JKAMP_000005 - PubMed: Chacon-Millan 2026 SCV006311624 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam10PatII1 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Ukraine Europe - - - - 1 Johan den Dunnen
+/. - c.562C>T r.(?) p.(Arg188Ter) Parent #2 - pathogenic (recessive) g.59965548C>T g.59498830C>T - - JKAMP_000006 - PubMed: Chacon-Millan 2026 SCV006301795 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1PatII1 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy Europe - - - - 1 Johan den Dunnen
+/. - c.640+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.59965627G>T g.59498909G>T - - JKAMP_000007 - PubMed: Chacon-Millan 2026 SCV006279840 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam9PatII1 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France Arab - - - - 1 Johan den Dunnen
+/. - c.871dup r.(?) p.(Tyr291LeufsTer27) Both (homozygous) - pathogenic (recessive) g.59970725dup g.59504007dup - - JKAMP_000008 - PubMed: Chacon-Millan 2026 SCV006275841 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2PatIII1 PubMed: Chacon-Millan 2026 3-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Palestine Arab;muslim - - - - 1 Johan den Dunnen
+/. - c.871dup r.(?) p.(Tyr291LeufsTer27) Both (homozygous) - pathogenic (recessive) g.59970725dup g.59504007dup - - JKAMP_000008 - PubMed: Chacon-Millan 2026 SCV006275841 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2PatIII2 PubMed: Chacon-Millan 2026 brother M yes Palestine Arab - - - - 1 Johan den Dunnen
+/. - c.878del r.(?) p.(Phe293SerfsTer34) Parent #2 - pathogenic (recessive) g.59970732del g.59504014del - - JKAMP_000009 - PubMed: Chacon-Millan 2026 SCV006279839 - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8PatII1 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany;Ireland Europe - - - - 1 Johan den Dunnen
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