Full data view for gene CALR3

Information The variants shown are described using the NM_145046.4 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.564del r.(?) p.(Gln189SerfsTer8) Unknown - VUS g.16594855del g.16484044del CALR3(NM_145046.4):c.564delT (p.Q189Sfs*8), CALR3(NM_145046.5):c.564delT (p.Q189Sfs*8) - CALR3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.564del r.(?) p.(Gln189SerfsTer8) Unknown - VUS g.16594855del g.16484044del CALR3(NM_145046.4):c.564delT (p.Q189Sfs*8), CALR3(NM_145046.5):c.564delT (p.Q189Sfs*8) - CALR3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.564del r.(?) p.(Gln189SerfsTer8) Unknown - VUS g.16594855del g.16484044del CALR3(NM_145046.4):c.564delT (p.Q189Sfs*8), CALR3(NM_145046.5):c.564delT (p.Q189Sfs*8) - CALR3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.564del r.(?) p.(Gln189SerfsTer8) Unknown - VUS g.16594855del g.16484044del CALR3(NM_145046.4):c.564delT (p.Q189Sfs*8), CALR3(NM_145046.5):c.564delT (p.Q189Sfs*8) - CALR3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Maternal (inferred) - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline no - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMH - PubMed: Verhagen 2018, Journal: Verhagen 2018 4-generation family, 8 affecteds (7M, 1F), 6 unaffected (3M, 3F) M - Netherlands white - - yes - 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Paternal (confirmed) - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMH - PubMed: Verhagen 2018, Journal: Verhagen 2018 3-generation family, 1 affected (F), 2 unaffected (M, F) F - Netherlands white - - yes septal myectomy 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Unknown - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMH - PubMed: Verhagen 2018, Journal: Verhagen 2018 2-generation family, 1 affected (M), 1 unaffected (F) M - Netherlands white - - yes alcohol septal ablation 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Paternal (confirmed) - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMD - PubMed: Verhagen 2018, Journal: Verhagen 2018 2-generation family, 1 affected (M), 1 unaffected (M) M - Netherlands white - - yes - 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Maternal (confirmed) - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline yes - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMD - PubMed: Verhagen 2018, Journal: Verhagen 2018 3-generation family, 2 affected siblings (2F), 3 unaffected (2M, 1F) F - Netherlands white 00y06m - yes - 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Unknown - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMD - PubMed: Verhagen 2018, Journal: Verhagen 2018 - F - Netherlands white - - yes - 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Unknown - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMH - PubMed: Verhagen 2018, Journal: Verhagen 2018 - M - Netherlands white - - yes left ventricular assist device 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Maternal (inferred) - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline no - - - - DNA SEQ-NG - Dutch core cardiomyopathy CMH - PubMed: Verhagen 2018, Journal: Verhagen 2018 4-generation family, 8 affecteds (7M, 1F), 6 unaffected (3M, 3F) M - Netherlands white - - yes implantable cardiac defibrillator 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Unknown - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMH - PubMed: Verhagen 2018, Journal: Verhagen 2018 - M - Netherlands white - - yes - 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Unknown - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline yes - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMH - PubMed: Verhagen 2018, Journal: Verhagen 2018 3-generation family, 2 affecteds (2M), 3 unaffected (2M, 1F) M - Netherlands white - - yes - 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Unknown - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline ? - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel LVNC - PubMed: Verhagen 2018, Journal: Verhagen 2018 2-generation family, 1 affected (F), 1 borderline (1F) F - Netherlands white - - yes - 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Unknown - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMH - PubMed: Verhagen 2018, Journal: Verhagen 2018 - M - Netherlands white - - yes - 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Maternal (confirmed) - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMH - PubMed: Verhagen 2018, Journal: Verhagen 2018 3-generation family, 1 affected (M), 1 unaffected (F) M - Netherlands white - - yes - 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Unknown - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMH - PubMed: Verhagen 2018, Journal: Verhagen 2018 - M - Netherlands white - - yes - 1 Judith Verhagen
+?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Unknown - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMD - PubMed: Verhagen 2018, Journal: Verhagen 2018 sudden death son 20y F - Netherlands white - - yes - 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Unknown - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMD - PubMed: Verhagen 2018, Journal: Verhagen 2018 - M - Netherlands white - - yes implantable cardiac defibrillator 1 Judith Verhagen
?/. 5 c.564del r.(?) p.(Gln189Serfs*8) Unknown - VUS g.16594855del g.16484044del - - CALR3_000052 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs747656642 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CM - PubMed: Verhagen 2018, Journal: Verhagen 2018 - M - Netherlands white - - yes - 1 Judith Verhagen
?/. - c.564del r.(?) p.(Gln189SerfsTer8) Unknown - VUS g.16594855del g.16484044del CALR3(NM_145046.4):c.564delT (p.Q189Sfs*8), CALR3(NM_145046.5):c.564delT (p.Q189Sfs*8) - CALR3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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