Full data view for gene CAMK2D

Information The variants shown are described using the NM_001321571.1 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     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.196C>T r.(?) p.(Arg66Cys) Unknown - VUS g.114582893G>A - CAMK2D(NM_001321571.2):c.196C>T (p.(Arg66Cys)) - CAMK2D_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.236G>A r.(?) p.(Ser79Asn) Unknown ACMG pathogenic (dominant) g.114530347C>T g.113609191C>T - - CAMK2D_000007 ACMG PS2, PS3, PM2, PP3; loss-of-function varaint (in vitro analysis) 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 ACMG pathogenic (dominant) g.114530307C>A g.113609151C>A - - CAMK2D_000006 ACMG PVS1, PS2, PM2 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 - Belgium - - - - - 1 Johan den Dunnen
+?/. - c.416C>T r.(?) p.(Pro139Leu) Unknown ACMG pathogenic (dominant) g.114458598G>A g.113537442G>A - - CAMK2D_000005 ACMG PS2, PS3, PM2, PP3; gain-of-function varaint (in vitro analysis) 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 - Ethiopia - - - - - 1 Johan den Dunnen
+?/. - c.628G>A r.(?) p.(Gly210Arg) Unknown ACMG pathogenic (dominant) g.114438787C>T g.113517631C>T - - CAMK2D_000004 ACMG PS2, PS3, PM2, PP3; gain-of-function varaint (in vitro analysis) 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 - pathogenic (dominant) g.114435068T>G g.113513912T>G - - CAMK2D_000003 ACMG PS2, PS3, PM1, PM2, PP3; gain-of-function varaint (in vitro analysis) 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 - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.824G>A r.(?) p.(Arg275His) Paternal (inferred) ACMG pathogenic (dominant) g.114435065C>T g.113513909C>T - - CAMK2D_000002 ACMG PS3, PM1, PM2, PP1, PP3, PP4; gain-of-function varaint (in vitro analysis); patient carries a 16p11.2 microdeletion which may be associated with the neurodevelopmental features PubMed: Rigter 2024, Journal: Rigter 2024 SCV002103288 - Germline yes - - - - DNA arrayCGH, SEQ, SEQ-NG - WES NDD FamPat6 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 2 affected sibs (brother/sister), similarly affected father M - - - - - - - 2 Johan den Dunnen
+?/. - c.824G>A r.(?) p.(Arg275His) Paternal (inferred) ACMG pathogenic (dominant) g.114435065C>T g.113513909C>T - - CAMK2D_000002 ACMG PS3, PM1, PM2, PP1, PP3, PP4; gain-of-function varaint (in vitro analysis); patient carries a 16p11.2 microdeletion which may be associated with the neurodevelopmental features PubMed: Rigter 2024, Journal: Rigter 2024 SCV002103288 - Germline yes - - - - DNA arrayCGH, SEQ, SEQ-NG - WES NDD FamPat7 PubMed: Rigter 2024, Journal: Rigter 2024 sister 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 ACMG pathogenic (dominant) g.114435016C>G g.113513860C>G - - CAMK2D_000001 ACMG PS2, PS3, PM1, PM2, PP3; dominant negative varaint (in vitro analysis) 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
?/. - c.1597A>C r.(?) p.(Ile533Leu) Unknown - VUS g.114376916T>G - CAMK2D(NM_001321571.2):c.1597A>C (p.(Ile533Leu)) - CAMK2D_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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