Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C3542550
Disease:
CILIARY DYSKINESIA, PRIMARY, 17 		C 0.800 GeneticVariation CLINVAR High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. 28790179 2018
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C3542550
Disease:
CILIARY DYSKINESIA, PRIMARY, 17 		C 0.800 CausalMutation CLINVAR Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300 2016
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C3542550
Disease:
CILIARY DYSKINESIA, PRIMARY, 17 		C 0.800 GeneticVariation CLINVAR A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. 26123568 2015
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C3542550
Disease:
CILIARY DYSKINESIA, PRIMARY, 17 		C 0.800 CausalMutation CLINVAR A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. 26123568 2015
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C3542550
Disease:
CILIARY DYSKINESIA, PRIMARY, 17 		0.800 GeneticVariation UNIPROT Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273 2014
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C3542550
Disease:
CILIARY DYSKINESIA, PRIMARY, 17 		C 0.800 CausalMutation CLINVAR Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. 24357714 2013
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C3542550
Disease:
CILIARY DYSKINESIA, PRIMARY, 17 		C 0.800 GeneticVariation CLINVAR Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. 24357714 2013
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C3542550
Disease:
CILIARY DYSKINESIA, PRIMARY, 17 		C 0.800 CausalMutation CLINVAR CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229 2012
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C3542550
Disease:
CILIARY DYSKINESIA, PRIMARY, 17 		C 0.800 GeneticVariation CLINVAR CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229 2012
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C3542550
Disease:
CILIARY DYSKINESIA, PRIMARY, 17 		0.800 GeneticVariation UNIPROT CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229 2012
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C0008780
Disease:
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. 28790179 2018
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C0008780
Disease:
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300 2016
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C0008780
Disease:
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. 26123568 2015
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C0008780
Disease:
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C0008780
Disease:
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. 24357714 2013
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C0008780
Disease:
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229 2012
dbSNP: rs1060503433
rs1060503433
Entrez Id: 9343;388389;100528020
Gene Symbol: EFTUD2;CCDC103;FAM187A
EFTUD2;CCDC103;FAM187A
CUI: C0008780
Disease:
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR
dbSNP: rs145457535
rs145457535
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C4551906
Disease:
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587776910
rs587776910
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C4551906
Disease:
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs587776910
rs587776910
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C3542550
Disease:
CILIARY DYSKINESIA, PRIMARY, 17 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs746242380
rs746242380
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C4022990
Disease:
Dynein arm defect of respiratory motile cilia 		CAG 0.700 CausalMutation CLINVAR
dbSNP: rs746242380
rs746242380
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C4022986
Disease:
Absent inner and outer dynein arms 		CAG 0.700 CausalMutation CLINVAR
dbSNP: rs746242380
rs746242380
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C0008780
Disease:
Ciliary Motility Disorders 		CAG 0.700 CausalMutation CLINVAR
dbSNP: rs746242380
rs746242380
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C4551493
Disease:
Situs inversus totalis 		CAG 0.700 CausalMutation CLINVAR
dbSNP: rs746242380
rs746242380
Entrez Id: 388389;100528020
Gene Symbol: CCDC103;FAM187A
CCDC103;FAM187A
CUI: C0008780
Disease:
Ciliary Motility Disorders 		CAG 0.700 GeneticVariation CLINVAR