Full data view for gene CAMSAP1

Information The variants shown are described using the NM_015447.3 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
Legend   How to query  

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.521C>T r.(?) p.(Thr174Met) Both (homozygous) - VUS g.138773543G>A g.135881697G>A - - CAMSAP1_000012 reported as candidate disease gene PubMed: Al-Kasbi 2022 - rs1187560194 Germline - - - - - DNA SEQ, SEQ-NG - WES ID 12DK11500 PubMed: Al-Kasbi 2022 patient, other affecteds in family M yes Oman - - - - - 1 Johan den Dunnen
-?/. - c.666+5A>C r.spl? p.? Unknown - likely benign g.138758297T>G - CAMSAP1(NM_015447.4):c.666+5A>C - CAMSAP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1224C>T r.(?) p.(=) Unknown - likely benign g.138716726G>A - CAMSAP1(NM_015447.4):c.1224C>T (p.(Leu408=)) - CAMSAP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1400+5G>A r.spl? p.? Unknown - likely benign g.138715791C>T - CAMSAP1(NM_015447.4):c.1400+5G>A - CAMSAP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1559C>T r.(?) p.(Thr520Met) Unknown - VUS g.138714948G>A - CAMSAP1(NM_015447.4):c.1559C>T (p.(Thr520Met)) - CAMSAP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1707dupT r.(?) p.(Thr570TyrfsTer17) Paternal (confirmed) - pathogenic (recessive) g.138714801dup g.135822955dup 1707dupT - CAMSAP1_000011 - PubMed: Khalaf-Nazzal 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam2PatII1 PubMed: Khalaf-Nazzal 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no United States - - - - - 1 Johan den Dunnen
+/. - c.1831A>T r.(?) p.(Lys611Ter) Both (homozygous) - pathogenic (recessive) g.138714676T>A g.135822830T>A - - CAMSAP1_000010 - PubMed: Khalaf-Nazzal 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam4PatII1 PubMed: Khalaf-Nazzal 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.2223T>A r.(?) p.(Asp741Glu) Unknown - likely benign g.138714284A>T g.135822438A>T CAMSAP1(NM_015447.3):c.2223T>A (p.(Asp741Glu)) - CAMSAP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2233A>G r.(?) p.(Ile745Val) Unknown - likely benign g.138714274T>C g.135822428T>C CAMSAP1(NM_015447.4):c.2233A>G (p.I745V) - CAMSAP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2285G>A r.(?) p.(Ser762Asn) Unknown - likely benign g.138714222C>T g.135822376C>T CAMSAP1(NM_015447.4):c.2285G>A (p.S762N) - CAMSAP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2638C>T r.(?) p.(Gln880Ter) Parent #2 - pathogenic (recessive) g.138713869G>A g.135822023G>A - - CAMSAP1_000009 - PubMed: Khalaf-Nazzal 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam3PatII1 PubMed: Khalaf-Nazzal 2022 2-generation family, 1 affected, unaffected parents M no United States - - - - - 1 Johan den Dunnen
+/. - c.2717_2738del r.(?) p.(Gln906LeufsTer7) Both (homozygous) - pathogenic (recessive) g.138713779_138713800del g.135821933_135821954del - - CAMSAP1_000008 - PubMed: Khalaf-Nazzal 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NDD Fam1PatV1 PubMed: Khalaf-Nazzal 2022 5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Palestine - - - - - 3 Johan den Dunnen
+/. - c.2717_2738del r.(?) p.(Gln906LeufsTer7) Both (homozygous) - pathogenic (recessive) g.138713779_138713800del g.135821933_135821954del - - CAMSAP1_000008 - PubMed: Khalaf-Nazzal 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NDD Fam1PatIV10 PubMed: Khalaf-Nazzal 2022 - F yes Palestine - - - - - 1 Johan den Dunnen
+/. - c.2717_2738del r.(?) p.(Gln906LeufsTer7) Both (homozygous) - pathogenic (recessive) g.138713779_138713800del g.135821933_135821954del - - CAMSAP1_000008 - PubMed: Khalaf-Nazzal 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NDD Fam1PatIV11 PubMed: Khalaf-Nazzal 2022 - M yes Palestine - - - - - 1 Johan den Dunnen
+/. - c.2717_2738del r.(?) p.(Gln906LeufsTer7) Parent #1 - pathogenic (recessive) g.138713779_138713800del g.135821933_135821954del - - CAMSAP1_000008 - PubMed: Khalaf-Nazzal 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam3PatII1 PubMed: Khalaf-Nazzal 2022 2-generation family, 1 affected, unaffected parents M no United States - - - - - 1 Johan den Dunnen
+/. - c.3130C>T r.(?) p.(Gln1044Ter) Maternal (confirmed) - pathogenic (recessive) g.138713377G>A g.135821531G>A - - CAMSAP1_000007 - PubMed: Khalaf-Nazzal 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam2PatII1 PubMed: Khalaf-Nazzal 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no United States - - - - - 1 Johan den Dunnen
?/. - c.3191C>T r.(?) p.(Ser1064Leu) Unknown - VUS g.138713316G>A - CAMSAP1(NM_015447.4):c.3191C>T (p.(Ser1064Leu)) - CAMSAP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3314C>T r.(?) p.(Ala1105Val) Unknown - likely benign g.138713193G>A - CAMSAP1(NM_015447.4):c.3314C>T (p.A1105V) - CAMSAP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3959+7G>A r.(=) p.(=) Unknown - likely benign g.138710849C>T - CAMSAP1(NM_015447.4):c.3959+7G>A - CAMSAP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4169-7C>T r.(=) p.(=) Unknown - likely benign g.138709932G>A - CAMSAP1(NM_015447.4):c.4169-7C>T - CAMSAP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4193C>G r.(?) p.(Ser1398Ter) Both (homozygous) - pathogenic (recessive) g.138709901G>C g.135818055G>C - - CAMSAP1_000006 - PubMed: Khalaf-Nazzal 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Fam5PatII1 PubMed: Khalaf-Nazzal 2022 2-generation family, 1 affected, unaffected parents F - United States - 5y6m - - - 1 Johan den Dunnen
?/. - c.4506+2C>T r.spl? p.? Unknown - VUS g.138706941G>A - CAMSAP1(NM_015447.4):c.4506+2C>T - CAMSAP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.