Full data view for gene MAP2K4

Information The variants shown are described using the NM_003010.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.274G>T r.(?) p.(Glu92Ter) Unknown - pathogenic (dominant) g.11984728G>T g.12081411G>T - - chr17_011067 - PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.337_345del r.(?) p.(Tyr113_Ser115del) Unknown - pathogenic (dominant) g.11984791_11984799del g.12081474_12081482del - - chr17_011066 - PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.425A>C r.(?) p.(Gln142Pro) Unknown - pathogenic (dominant) g.11998923A>C g.12095606A>C - - chr17_011069 - PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat10 PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.434_435inv r.(?) p.(Leu145Gln) Unknown - pathogenic (dominant) g.11998932_11998933inv g.12095615_12095616inv 434_435delinsAA - chr17_011068 - PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat9 PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.436C>T r.(?) p.(Leu146Phe) Unknown - VUS g.11998934C>T g.12095617C>T - - MAP2K4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.436C>T r.(?) p.(Leu146Phe) Unknown - pathogenic (dominant) g.11998934C>T g.12095617C>T - - MAP2K4_000001 - PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.495_513+9del r.spl p.? Unknown - pathogenic (dominant) g.11998993_11999020del g.12095676_12095703del - - chr17_011065 - PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.733_737del r.(?) p.(Leu245Ter) Unknown - pathogenic (dominant) g.12016597_12016601del g.12113280_12113284del (Leu245 Cys246delins) - chr17_011061 - PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 2-generation family, 1 affected, unaffected non-carrier mother M - - - - - - - 1 Johan den Dunnen
+/. - c.841C>T r.(?) p.(Arg281Ter) Unknown - pathogenic (dominant) g.12028638C>T g.12125321C>T - - chr17_011064 - PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.935G>T r.(?) p.(Ser312Ile) Unknown - pathogenic (dominant) g.12032499G>T g.12129182G>T - - chr17_011062 - PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.947A>T r.(?) p.(Gln316Leu) Unknown - pathogenic (dominant) g.12032511A>T g.12129194A>T - - chr17_011063 - PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat4 PubMed: Nomakuchi 2026, PubMed: Nomakuchi 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
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