Full data view for gene CAMK2D

Information The variants shown are described using the NM_001321571.1 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Data_av     

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Panel size     

Owner     
+?/. - c.236G>A r.(?) p.(Ser79Asn) Unknown - likely pathogenic (dominant) g.114530347C>T g.113609191C>T - - CAMK2D_000007 - PubMed: Rigter 2024, Journal: Rigter 2024 SCV002103285 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.275+1G>T r.spl p.? Unknown - likely pathogenic (dominant) g.114530307C>A g.113609151C>A - - CAMK2D_000006 - PubMed: Rigter 2024, Journal: Rigter 2024 SCV002103284 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.416C>T r.(?) p.(Pro139Leu) Unknown - likely pathogenic (dominant) g.114458598G>A g.113537442G>A - - CAMK2D_000005 - PubMed: Rigter 2024, Journal: Rigter 2024 SCV002103286 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.628G>A r.(?) p.(Gly210Arg) Unknown - likely pathogenic (dominant) g.114438787C>T g.113517631C>T - - CAMK2D_000004 - PubMed: Rigter 2024, Journal: Rigter 2024 SCV003799177 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.821A>C r.(?) p.(Gln274Pro) Unknown - likely pathogenic (dominant) g.114435068T>G g.113513912T>G - - CAMK2D_000003 - PubMed: Rigter 2024, Journal: Rigter 2024 SCV002103287 - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.824G>A r.(?) p.(Arg275His) Paternal (inferred) - likely pathogenic (dominant) g.114435065C>T g.113513909C>T - - CAMK2D_000002 patient carries a 16p11.2 microdeletion which may be associated with the neurodevelopmental features PubMed: Rigter 2024, Journal: Rigter 2024 SCV002103288 - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - WES NDD Pat6 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 2 affected sibs, similarly affected father M - - - - - - - 2 Johan den Dunnen
+?/. - c.824G>A r.(?) p.(Arg275His) Paternal (inferred) - likely pathogenic (dominant) g.114435065C>T g.113513909C>T - - CAMK2D_000002 patient carries a 16p11.2 microdeletion which may be associated with the neurodevelopmental features PubMed: Rigter 2024, Journal: Rigter 2024 SCV002103288 - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - WES NDD Pat7 PubMed: Rigter 2024, Journal: Rigter 2024 sib F - - - - - - - 1 Johan den Dunnen
+/. - c.824G>A r.(?) p.(Arg275His) Unknown - pathogenic (dominant) g.114435065C>T g.113513909C>T - - CAMK2D_000002 - PubMed: Tolmacheva 2023, Journal: Tolmacheva 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Tolmacheva 2023, Journal: Tolmacheva 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Russia - - - - - 1 Johan den Dunnen
+?/. - c.873G>C r.(?) p.(Leu291Phe) Unknown - likely pathogenic (dominant) g.114435016C>G g.113513860C>G - - CAMK2D_000001 - PubMed: Rigter 2024, Journal: Rigter 2024 SCV002103289 - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat8 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - 1 Johan den Dunnen
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