Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200693106
rs200693106
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 25802884

2015
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
CUI: C0008780
Disease: Ciliary Motility Disorders
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: rs138320978
rs138320978
RSPH1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845

2015
dbSNP: rs1305797678
rs1305797678
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 GeneticVariation CLINVAR The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey. 24905662

2015
dbSNP: rs1060503388
rs1060503388
CCNO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845

2015
dbSNP: rs886043448
rs886043448
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. 24150548

2014
dbSNP: rs863224519
rs863224519
CCDC40 ; MIR1268B
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014
dbSNP: rs776791493
rs776791493
DNAH8 ; DNAH8-AS1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 GeneticVariation CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375

2014
dbSNP: rs775696136
rs775696136
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		TA 0.700 GeneticVariation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014
dbSNP: rs769458738
rs769458738
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014
dbSNP: rs767713588
rs767713588
DNAAF5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375

2014
dbSNP: rs767713588
rs767713588
DNAAF5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. 25232951

2014
dbSNP: rs756616538
rs756616538
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375

2014
dbSNP: rs752925056
rs752925056
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		AT 0.700 CausalMutation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
dbSNP: rs727502973
rs727502973
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
dbSNP: rs727502973
rs727502973
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 GeneticVariation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
dbSNP: rs587778822
rs587778822
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
dbSNP: rs587777635
rs587777635
RSPH1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. 24518672

2014
dbSNP: rs587777502
rs587777502
CCNO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		CGGGCT 0.700 CausalMutation CLINVAR Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639

2014
dbSNP: rs587777499
rs587777499
CCNO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		TGGGCC 0.700 CausalMutation CLINVAR Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639

2014
dbSNP: rs587777498
rs587777498
CCNO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		CGGGCA 0.700 CausalMutation CLINVAR Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639

2014
dbSNP: rs575017579
rs575017579
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
dbSNP: rs571919972
rs571919972
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014
dbSNP: rs397515540
rs397515540
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014
dbSNP: rs376903331
rs376903331
DNAH8 ; DNAH8-AS1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375

2014