Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Bronchiectasis (D001987)
Parent Node: Ciliary Motility Disorders (D002925)
Parent Node: Dextrocardia (D003914)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Respiratory System Abnormalities (D015619)
..Starting node ..Kartagener Syndrome (D007619)
Child Nodes:
........Ciliary Dyskinesia, Primary, 7 (C567504)
........Ciliary Dyskinesia, Primary, 8 (C567373)
........Ciliary Dyskinesia, Primary, 9 (C567310)
........Primary ciliary dyskinesia, 2 (C535277)
........Primary ciliary dyskinesia, 3 (C535278)
........Primary ciliary dyskinesia, 4 (C535279)
Sister Nodes:
..Bronchogenic Cyst (D001994)
..Bronchopulmonary Sequestration (D001998)
..Choanal Atresia (D002754) 8
..Cystic Adenomatoid Malformation of Lung, Congenital (D015615)
..Fraser-Like Syndrome (C565562)
..Kartagener Syndrome (D007619) 6
..Laryngocele (D059608)
..Laryngostenosis (D007829)
..Oculoauriculofrontonasal syndrome (C537865)
..Scimitar Syndrome (D012587) 1
..Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs (C567517)
..Tracheobronchomegaly (D014137)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6027

Name:

Kartagener Syndrome

Definition:

An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.

Alternative IDs:

OMIM:244400

ParentIDs:

MESH:D001987|MESH:D002925|MESH:D003914|MESH:D015619|MESH:D030342

TreeNumbers:

C08.127.384.500 |C08.200.531 |C08.695.501 |C09.150.531 |C14.240.400.280.500 |C14.280.400.280.500 |C16.131.240.400.280.500 |C16.131.740.501 |C16.131.810.250.500 |C16.320.480

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease

Reference:

MedGen: D007619
MeSH: D007619
OMIM: 244400;

Genes: DNAI1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000481	Abnormal cornea morphology
3	HP:0005938	Abnormal respiratory motile cilium morphology
4	HP:0002688	Absent frontal sinuses
5	HP:0000458	Anosmia
6	HP:0001746	Asplenia
7	HP:0002110	Bronchiectasis
8	HP:0000389	Chronic otitis media
9	HP:0002257	Chronic rhinitis
10	HP:0011109	Chronic sinusitis
11	HP:0012265	Ciliary dyskinesia
12	HP:0001334	Communicating hydrocephalus
13	HP:0000405	Conductive hearing impairment
14	HP:0002315	Headache
15	HP:0001425	Heterogeneous
16	HP:0012263	Immotile cilia
17	HP:0003251	Male infertility
18	HP:0100582	Nasal polyposis
19	HP:0002090	Pneumonia
20	HP:0000246	Sinusitis
21	HP:0001696	Situs inversus totalis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_018076.4(ARMC4):c.2780T>G (p.Leu927Trp)	55130	ARMC4	Pathogenic	587777047	RCV000190922; RCV000056284;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3809548,OMIM:615451	10	28151382	28151382	NM_018076.4:c.2780T>G	NP_060546.2:p.Leu927Trp	10:g.28151382A>C	OMIM Allelic Variant:615408.0002	C0022521 244400 Kartagener syndrome; C3809548 615451 Primary ciliary dyskinesia 23
NM_018076.4(ARMC4):c.1669G>T (p.Glu557Ter)	55130	ARMC4	Pathogenic	145742175	RCV000190921;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	10	28233225	28233225	NM_018076.4:c.1669G>T	NP_060546.2:p.Glu557Ter	NC_000010.10:g.28233225C>A	-	C0022521 244400 Kartagener syndrome
NM_021254.2(C21orf59):c.792_795delTTTA (p.Tyr264Terfs)	56683	C21orf59	Pathogenic	398122401	RCV000190939; RCV000074373;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3809684,OMIM:615500	21	33974251	33974254	NM_021254.2:c.792_795delTTTA	NP_067077.1:p.Tyr264Terfs	NC_000021.8:g.33974251_33974254delTAAA	OMIM Allelic Variant:615494.0003	C3809684 615500 Ciliary dyskinesia, primary, 26; C0022521 244400 Kartagener syndrome
NM_021254.2(C21orf59):c.735C>G (p.Tyr245Ter)	56683	C21orf59	Pathogenic	202094637	RCV000190938; RCV000074371;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3809684,OMIM:615500	21	33974609	33974609	NM_021254.2:c.735C>G	NP_067077.1:p.Tyr245Ter	NC_000021.8:g.33974609G>C	OMIM Allelic Variant:615494.0001	C3809684 615500 Ciliary dyskinesia, primary, 26; C0022521 244400 Kartagener syndrome
NM_021254.2(C21orf59):c.292C>T (p.Arg98Ter)	56683	C21orf59	Pathogenic	143740376	RCV000190937; RCV000074372;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3809684,OMIM:615500	21	33982163	33982163	NM_021254.2:c.292C>T	NP_067077.1:p.Arg98Ter	NC_000021.8:g.33982163G>A	OMIM Allelic Variant:615494.0002	C3809684 615500 Ciliary dyskinesia, primary, 26; C0022521 244400 Kartagener syndrome
NM_213607.2(CCDC103):c.383dupG (p.Pro129Serfs)	388389	CCDC103	Pathogenic	587776910	RCV000190915; RCV000024375;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3542550,OMIM:614679	17	42979839	42979839	NM_213607.2:c.383dupG	NP_998772.1:p.Pro129Serfs		OMIM Allelic Variant:614677.0001	C3542550 614679 Ciliary dyskinesia, primary, 17; C0022521 244400 Kartagener syndrome
NM_213607.2(CCDC103):c.461A>C (p.His154Pro)	388389	CCDC103	Pathogenic	145457535	RCV000190916; RCV000024376;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3542550,OMIM:614679	17	42979917	42979917	NM_213607.2:c.461A>C	NP_998772.1:p.His154Pro	NC_000017.10:g.42979917A>C	OMIM Allelic Variant:614677.0002	C3542550 614679 Ciliary dyskinesia, primary, 17; C0022521 244400 Kartagener syndrome
NM_144577.3(CCDC114):c.742G>A (p.Ala248Thr)	93233	CCDC114	Pathogenic	147718607	RCV000190918; RCV000032837;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3540844,OMIM:615067	19	48807210	48807210	NM_144577.3:c.742G>A	NP_653178.3:p.Ala248Thr	NC_000019.9:g.48807210C>T	OMIM Allelic Variant:615038.0001	C3540844 615067 Ciliary dyskinesia, primary, 20; C0022521 244400 Kartagener syndrome
NM_145045.4(CCDC151):c.1256C>A (p.Ser419Ter)	115948	CCDC151	Pathogenic	587777780	RCV000190933; RCV000144450;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:CN219801,OMIM:616037	19	11533390	11533390	NM_145045.4:c.1256C>A	NP_659482.3:p.Ser419Ter	19:g.11533390G>T	OMIM Allelic Variant:615956.0002	CN219801 616037 Ciliary dyskinesia, primary, 30; C0022521 244400 Kartagener syndrome
NM_145045.4(CCDC151):c.925G>T (p.Glu309Ter)	115948	CCDC151	Pathogenic	587777779	RCV000190932; RCV000144449;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:CN219801,OMIM:616037	19	11537002	11537002	NM_145045.4:c.925G>T	NP_659482.3:p.Glu309Ter	19:g.11537002C>A	OMIM Allelic Variant:615956.0001	CN219801 616037 Ciliary dyskinesia, primary, 30; C0022521 244400 Kartagener syndrome
NM_021147.4(CCNO):c.961C>T (p.Gln321Ter)	10309	CCNO	Pathogenic	587777501	RCV000190947; RCV000128543;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:CN189713,OMIM:615872	5	54527295	54527295	NM_021147.4:c.961C>T	NP_066970.3:p.Gln321Ter	5:g.54527295G>A	OMIM Allelic Variant:607752.0004	CN189713 615872 Ciliary dyskinesia, primary, 29; C0022521 244400 Kartagener syndrome
NM_021147.4(CCNO):c.926delC (p.Pro309Argfs)	10309	CCNO	Pathogenic	587777500	RCV000190946; RCV000128542;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:CN189713,OMIM:615872	5	54527330	54527330	NM_021147.4:c.926delC	NP_066970.3:p.Pro309Argfs		OMIM Allelic Variant:607752.0003	CN189713 615872 Ciliary dyskinesia, primary, 29; C0022521 244400 Kartagener syndrome
NM_021147.4(CCNO):c.716A>G (p.His239Arg)	10309	CCNO	Pathogenic	797045150	RCV000190945;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	5	54527540	54527540	NM_021147.4:c.716A>G	NP_066970.3:p.His239Arg	NC_000005.9:g.54527540T>C	-	C0022521 244400 Kartagener syndrome
NM_021147.4(CCNO):c.481_482delCT (p.Leu161Glyfs)	10309	CCNO	Pathogenic	587777503	RCV000190944; RCV000128555;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:CN189713,OMIM:615872	5	54528274	54528275	NM_021147.4:c.481_482delCT	NP_066970.3:p.Leu161Glyfs	NC_000005.9:g.54528274_54528275delAG	OMIM Allelic Variant:607752.0006	CN189713 615872 Ciliary dyskinesia, primary, 29; C0022521 244400 Kartagener syndrome
NM_021147.4(CCNO):c.263_267dupAGCCC (p.Val90Serfs)	10309	CCNO	Pathogenic	587777502	RCV000190943; RCV000128544;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:CN189713,OMIM:615872	5	54529085	54529089	NM_021147.4:c.263_267dupAGCCC	NP_066970.3:p.Val90Serfs	NC_000005.9:g.54529085_54529089dupGGGCT	OMIM Allelic Variant:607752.0005	CN189713 615872 Ciliary dyskinesia, primary, 29; C0022521 244400 Kartagener syndrome
NM_021147.4(CCNO):c.258_262dupGGCCC (p.Gln88Argfs)	10309	CCNO	Pathogenic	587777499	RCV000190942; RCV000128541;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:CN189713,OMIM:615872	5	54529090	54529094	NM_021147.4:c.258_262dupGGCCC	NP_066970.3:p.Gln88Argfs		OMIM Allelic Variant:607752.0002	CN189713 615872 Ciliary dyskinesia, primary, 29; C0022521 244400 Kartagener syndrome
NM_021147.4(CCNO):c.248_252dupTGCCC (p.Gly85Cysfs)	10309	CCNO	Pathogenic	587777498	RCV000190941; RCV000128540;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:CN189713,OMIM:615872	5	54529100	54529104	NM_021147.4:c.248_252dupTGCCC	NP_066970.3:p.Gly85Cysfs		OMIM Allelic Variant:607752.0001	CN189713 615872 Ciliary dyskinesia, primary, 29; C0022521 244400 Kartagener syndrome
NM_178452.5(DNAAF1):c.524T>G (p.Leu175Arg)	123872	DNAAF1	Pathogenic	267607227	RCV000000291; RCV000190914;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C2750790,OMIM:613193	16	84188353	84188353	NM_178452.5:c.524T>G	NP_848547.4:p.Leu175Arg		OMIM Allelic Variant:613190.0005	C2750790 613193 Ciliary dyskinesia, primary, 13; C0022521 244400 Kartagener syndrome
NM_178452.5(DNAAF1):c.1349dupC (p.Pro451Alafs)	123872	DNAAF1	Pathogenic	397515339	RCV000000287; RCV000190867;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C2750790,OMIM:613193	16	84203783	84203783	NM_178452.5:c.1349dupC	NP_848547.4:p.Pro451Alafs		OMIM Allelic Variant:613190.0001	C2750790 613193 Ciliary dyskinesia, primary, 13; C0022521 244400 Kartagener syndrome
NM_018139.2(DNAAF2):c.1199_1214dup16 (p.Gly406Argfs)	55172	DNAAF2	Pathogenic	397515341	RCV000190873;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	14	50100654	50100669	NM_018139.2:c.1199_1214dup16	NP_060609.2:p.Gly406Argfs	NC_000014.8:g.50100653_50100654insGCCACGCAGGTATCGT,NC_000014.8:g.50100654_501006	-	C0022521 244400 Kartagener syndrome
NM_018139.2(DNAAF2):c.31delG (p.Glu11Argfs)	55172	DNAAF2	Pathogenic	797045146	RCV000190911;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	14	50101837	50101837	NM_018139.2:c.31delG	NP_060609.2:p.Glu11Argfs	NC_000014.8:g.50101837delC	-	C0022521 244400 Kartagener syndrome
NM_018139.2(DNAAF2):c.23C>A (p.Ser8Ter)	55172	DNAAF2	Pathogenic	137853191	RCV000000559; RCV000190866;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C2675867,OMIM:612518	14	50101845	50101845	NM_018139.2:c.23C>A	NP_060609.2:p.Ser8Ter	NC_000014.8:g.50101845G>T	OMIM Allelic Variant:612517.0002	C2675867 612518 Ciliary dyskinesia, primary, 10; C0022521 244400 Kartagener syndrome
NM_001256714.1(DNAAF3):c.825dupT (p.Val276Cysfs)	352909	DNAAF3	Pathogenic	397515395	RCV000190870; RCV000024245;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C1847554,OMIM:606763	19	55673053	55673053	NM_001256714.1:c.825dupT	NP_001243643.1:p.Val276Cysfs	NC_000019.9:g.55673053dupA	OMIM Allelic Variant:614566.0003	C1847554 606763 Ciliary dyskinesia, primary, 2; C0022521 244400 Kartagener syndrome
NM_001256714.1(DNAAF3):c.469C>T (p.Arg157Ter)	352909	DNAAF3	Pathogenic	387907152	RCV000190869; RCV000024244;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C1847554,OMIM:606763	19	55676795	55676795	NM_001256714.1:c.469C>T	NP_001243643.1:p.Arg157Ter	NC_000019.9:g.55676795G>A	OMIM Allelic Variant:614566.0002	C1847554 606763 Ciliary dyskinesia, primary, 2; C0022521 244400 Kartagener syndrome
NM_001256714.1(DNAAF3):c.386T>C (p.Leu129Pro)	352909	DNAAF3	Pathogenic	387907151	RCV000190868; RCV000024243;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C1847554,OMIM:606763	19	55677272	55677272	NM_001256714.1:c.386T>C	NP_001243643.1:p.Leu129Pro	NC_000019.9:g.55677272A>G	OMIM Allelic Variant:614566.0001	C1847554 606763 Ciliary dyskinesia, primary, 2; C0022521 244400 Kartagener syndrome
NM_015512.4(DNAH1):c.3460A>C (p.Lys1154Gln)	25981	DNAH1	Pathogenic	544674332	RCV000190948;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	3	52387629	52387629	NM_015512.4:c.3460A>C	NP_056327.4:p.Lys1154Gln	NC_000003.11:g.52387629A>C	-	C0022521 244400 Kartagener syndrome
NM_001369.2(DNAH5):c.4348C>T (p.Gln1450Ter)	1767	DNAH5	Pathogenic	771663107	RCV000190910;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	5	13865784	13865784	NM_001369.2:c.4348C>T	NP_001360.1:p.Gln1450Ter	NC_000005.9:g.13865784G>A	-	C0022521 244400 Kartagener syndrome
NM_001206927.1(DNAH8):c.2419C>T (p.Arg807Ter)	1769	DNAH8	Pathogenic;Uncertain significance	567050969	RCV000190949; RCV000144929;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:CN221809	6	38754564	38754564	NM_001206927.1:c.2419C>T	NP_001193856.1:p.Arg807Ter	NC_000006.11:g.38754564C>T	OMIM Allelic Variant:603337.0001	C0022521 244400 Kartagener syndrome; CN221809 not provided
NM_012144.3(DNAI1):c.48+2dupT (p.Ser17ValfsTer12)	27019	DNAI1	Pathogenic	397515363	RCV000005954;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	9	34459053	34459053	NM_012144.3:c.48+2dupT	NP_036276.1:p.Ser17ValfsTer12	NC_000009.11:g.34459053dupT	OMIM Allelic Variant:604366.0001	C0022521 244400 Kartagener syndrome
NM_012144.3(DNAI1):c.282_283insAATA (p.Gly95Asnfs)	27019	DNAI1	Pathogenic	606231164	RCV000005955;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	9	34489341	34489342	NM_012144.3:c.282_283insAATA	NP_036276.1:p.Gly95Asnfs	NC_000009.11:g.34489341_34489342insAATA	OMIM Allelic Variant:604366.0002	C0022521 244400 Kartagener syndrome
NM_012144.3(DNAI1):c.1490G>A (p.Gly497Asp)	27019	DNAI1	Pathogenic	376252276	RCV000055932;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	9	34513110	34513110	NM_012144.3:c.1490G>A	NP_036276.1:p.Gly497Asp	NC_000009.11:g.34513110G>A	-	C0022521 244400 Kartagener syndrome
NM_012144.3(DNAI1):c.1543G>A (p.Gly515Ser)	27019	DNAI1	Pathogenic	79833450	RCV000005956;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	9	34513163	34513163	NM_012144.3:c.1543G>A	NP_036276.1:p.Gly515Ser	NC_000009.11:g.34513163G>A	OMIM Allelic Variant:604366.0003	C0022521 244400 Kartagener syndrome
NM_012144.3(DNAI1):c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del)	27019	DNAI1	Pathogenic	606231165	RCV000005957;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	9	34514480	34514491	NM_012144.3:c.1658_1669delCCAAGGTCTTCA	NP_036276.1:p.Thr553_Phe556del	NC_000009.11:g.34514480_34514491delCCAAGGTCTTCA	OMIM Allelic Variant:604366.0004	C0022521 244400 Kartagener syndrome
NM_012144.3(DNAI1):c.2001+1G>A (p.Ala607_Lys667del)	27019	DNAI1	Pathogenic	397515563	RCV000055933;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	9	34517466	34517466	NM_012144.3:c.2001+1G>A	NP_036276.1:p.Ala607_Lys667del	NC_000009.11:g.34517466G>A	-	C0022521 244400 Kartagener syndrome
NM_023036.4(DNAI2):c.346-3T>G (p.Ile116GlyfsTer54)	64446	DNAI2	Pathogenic	397515358	RCV000005242; RCV000190865;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C2676235,OMIM:612444	17	72283113	72283113	NM_023036.4:c.346-3T>G	NP_075462.3:p.Ile116GlyfsTer54	NC_000017.10:g.72283113T>G	OMIM Allelic Variant:605483.0002	C2676235 612444 Ciliary dyskinesia, primary, 9; C0022521 244400 Kartagener syndrome
NM_023036.4(DNAI2):c.1494+1G>C (p.Val450_Ser498del)	64446	DNAI2	Pathogenic	397515565	RCV000055951;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	17	72306303	72306303	NM_023036.4:c.1494+1G>C	NP_075462.3:p.Val450_Ser498del	NC_000017.10:g.72306303G>C	-	C0022521 244400 Kartagener syndrome
NM_031427.3(DNAL1):c.449A>G (p.Asn150Ser)	83544	DNAL1	Pathogenic	387907021	RCV000190934; RCV000023801;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3151460,OMIM:614017	14	74156135	74156135	NM_031427.3:c.449A>G	NP_113615.2:p.Asn150Ser	NC_000014.8:g.74156135A>G	OMIM Allelic Variant:610062.0001	C3151460 614017 Ciliary dyskinesia, primary, 16; C0022521 244400 Kartagener syndrome
NM_145038.4(DRC1):c.352C>T (p.Gln118Ter)	92749	DRC1	Pathogenic	142371860	RCV000190935; RCV000049261;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3809087,OMIM:615294	2	26644264	26644264	NM_145038.4:c.352C>T	NP_659475.2:p.Gln118Ter	NC_000002.11:g.26644264C>T	OMIM Allelic Variant:615288.0002	C3809087 615294 Ciliary dyskinesia, primary, 21; C0022521 244400 Kartagener syndrome
NM_145038.4(DRC1):c.2056A>T (p.Lys686Ter)	92749	DRC1	Pathogenic	587776997	RCV000190936; RCV000049260;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3809087,OMIM:615294	2	26677651	26677651	NM_145038.4:c.2056A>T	NP_659475.2:p.Lys686Ter	2:g.26677651A>T	OMIM Allelic Variant:615288.0001	C3809087 615294 Ciliary dyskinesia, primary, 21; C0022521 244400 Kartagener syndrome
NM_001270974.2(HYDIN):c.3985G>T (p.Val1329Leu)	54768	HYDIN	Pathogenic	397515413	RCV000190872; RCV000032900;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C1837615,OMIM:608647	16	71022036	71022036	NM_001270974.2:c.3985G>T	NP_001257903.1:p.Val1329Leu		OMIM Allelic Variant:610812.0001	C1837615 608647 Ciliary dyskinesia, primary, 5; C0022521 244400 Kartagener syndrome
NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter)	54768	HYDIN	Pathogenic	397515414	RCV000190871; RCV000032901;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C1837615,OMIM:608647	16	71171175	71171175	NM_001270974.2:c.922A>T	NP_001257903.1:p.Lys308Ter		OMIM Allelic Variant:610812.0002	C1837615 608647 Ciliary dyskinesia, primary, 5; C0022521 244400 Kartagener syndrome
NM_012472.5(LRRC6):c.630delG (p.Trp210Cysfs)	23639	LRRC6	Pathogenic	760123202	RCV000190917;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	8	133645009	133645009	NM_012472.5:c.630delG	NP_036604.2:p.Trp210Cysfs	NC_000008.10:g.133645009delC	-	C0022521 244400 Kartagener syndrome
NM_001190787.1(MCIDAS):c.1142G>A (p.Arg381His)	345643	MCIDAS	Pathogenic	797045152	RCV000190952;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	5	54516210	54516210	NM_001190787.1:c.1142G>A	NP_001177716.1:p.Arg381His	NC_000005.9:g.54516210C>T	-	C0022521 244400 Kartagener syndrome
NM_001190787.1(MCIDAS):c.1097G>A (p.Gly366Asp)	345643	MCIDAS	Pathogenic	797045151	RCV000190951;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	5	54516255	54516255	NM_001190787.1:c.1097G>A	NP_001177716.1:p.Gly366Asp	NC_000005.9:g.54516255C>T	-	C0022521 244400 Kartagener syndrome
NM_001190787.1(MCIDAS):c.441C>A (p.Cys147Ter)	345643	MCIDAS	Pathogenic	777031813	RCV000190950;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	5	54518169	54518169	NM_001190787.1:c.441C>A	NP_001177716.1:p.Cys147Ter	NC_000005.9:g.54518169G>T	-	C0022521 244400 Kartagener syndrome
NM_080860.3(RSPH1):c.727+5G>A (p.Ala244ValfsTer22)	89765	RSPH1	Pathogenic	200382776	RCV000190928;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	21	43897396	43897396	NM_080860.3:c.727+5G>A	NP_543136.1:p.Ala244ValfsTer22	NC_000021.8:g.43897396C>T	-	C0022521 244400 Kartagener syndrome
NM_080860.3(RSPH1):c.407_410delAGTA (p.Lys136Metfs)	89765	RSPH1	Pathogenic	587777059	RCV000190927; RCV000057511;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3809634,OMIM:615481	21	43905870	43905873	NM_080860.3:c.407_410delAGTA	NP_543136.1:p.Lys136Metfs	NC_000021.8:g.43905870_43905873delTACT	OMIM Allelic Variant:609314.0003	C0022521 244400 Kartagener syndrome; C3809634 615481 Primary ciliary dyskinesia 24
NM_080860.3(RSPH1):c.366G>A (p.Arg122=)	89765	RSPH1	Pathogenic	797045148	RCV000190925;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	21	43905914	43905914	NM_080860.3:c.366G>A	NP_543136.1:p.Arg122=	NC_000021.8:g.43905914C>T	-	C0022521 244400 Kartagener syndrome
NM_080860.3(RSPH1):c.366-3C>A	89765	RSPH1	Pathogenic	587777058	RCV000190926; RCV000057510;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3809634,OMIM:615481	21	43905917	43905917	NM_080860.3:c.366-3C>A		21:g.43905917G>T	OMIM Allelic Variant:609314.0002	C0022521 244400 Kartagener syndrome; C3809634 615481 Primary ciliary dyskinesia 24
NM_080860.3(RSPH1):c.275-2A>C (p.Gly92AlafsTer10)	89765	RSPH1	Pathogenic	151107532	RCV000190924; RCV000057512;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3809634,OMIM:615481	21	43906573	43906573	NM_080860.3:c.275-2A>C	NP_543136.1:p.Gly92AlafsTer10	NC_000021.8:g.43906573T>G	OMIM Allelic Variant:609314.0004	C0022521 244400 Kartagener syndrome; C3809634 615481 Primary ciliary dyskinesia 24
NM_080860.3(RSPH1):c.85G>T (p.Glu29Ter)	89765	RSPH1	Pathogenic	138320978	RCV000190923; RCV000057509;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3809634,OMIM:615481	21	43913159	43913159	NM_080860.3:c.85G>T	NP_543136.1:p.Glu29Ter	NC_000021.8:g.43913159C>A	OMIM Allelic Variant:609314.0001	C0022521 244400 Kartagener syndrome; C3809634 615481 Primary ciliary dyskinesia 24
NM_031924.4(RSPH3):c.631-2A>G	83861	RSPH3	Pathogenic	142800871	RCV000190953; RCV000186568;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:CN231728,OMIM:616481	6	159407455	159407455	NM_031924.4:c.631-2A>G		NC_000006.11:g.159407455T>C	OMIM Allelic Variant:615876.0002	CN231728 616481 Ciliary dyskinesia, primary, 32; C0022521 244400 Kartagener syndrome
NM_001010892.2(RSPH4A):c.166dupC (p.Arg56Profs)	345895	RSPH4A	Pathogenic	797045147	RCV000190912;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	6	116937952	116937952	NM_001010892.2:c.166dupC	NP_001010892.1:p.Arg56Profs	NC_000006.11:g.116937952dupC	-	C0022521 244400 Kartagener syndrome
NM_152732.4(RSPH9):c.804_806delGAA (p.Lys268del)	221421	RSPH9	Pathogenic	397515340	RCV000057516; RCV000190874;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C2675228,OMIM:612650	6	43638659	43638661	NM_152732.4:c.804_806delGAA	NP_689945.2:p.Lys268del	NC_000006.11:g.43638659_43638661delGAA	OMIM Allelic Variant:612648.0001,OMIM Allelic Variant:612648.0002	C2675228 612650 Ciliary dyskinesia, primary, 12; C0022521 244400 Kartagener syndrome
NM_172218.2(SPAG1):c.902_906delAAGTA (p.Lys301Thrfs)	6674	SPAG1	Pathogenic	797045149	RCV000190930;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006	8	101203687	101203691	NM_172218.2:c.902_906delAAGTA	NP_757367.1:p.Lys301Thrfs	NC_000008.10:g.101203687_101203691delAAGTA	-	C0022521 244400 Kartagener syndrome
NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter)	6674	SPAG1	Pathogenic	201740530	RCV000190929; RCV000074366;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3554306,OMIM:615005	8	101245664	101245664	NM_172218.2:c.2014C>T	NP_757367.1:p.Gln672Ter	NC_000008.10:g.101245664C>T	OMIM Allelic Variant:603395.0004	C3554306 615005 Epilepsy, nocturnal frontal lobe, 5; C0022521 244400 Kartagener syndrome
NM_015896.3(ZMYND10):c.797T>C (p.Leu266Pro)	51364	ZMYND10	Pathogenic	200913791	RCV000190920; RCV000056269;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3809543,OMIM:615444	3	50379904	50379904	NM_015896.3:c.797T>C	NP_056980.2:p.Leu266Pro	NC_000003.11:g.50379904A>G	OMIM Allelic Variant:607070.0006	C3809543 615444 Ciliary dyskinesia, primary, 22; C0022521 244400 Kartagener syndrome
NM_015896.3(ZMYND10):c.47T>G (p.Val16Gly)	51364	ZMYND10	Pathogenic	138815960	RCV000190919; RCV000056264;	N	MedGen:C0022521,OMIM:244400, Orphanet:ORPHA98861,SNOMED CT:42402006; MedGen:C3809543,OMIM:615444	3	50382964	50382964	NM_015896.3:c.47T>G	NP_056980.2:p.Val16Gly	NC_000003.11:g.50382964A>C	OMIM Allelic Variant:607070.0001	C3809543 615444 Ciliary dyskinesia, primary, 22; C0022521 244400 Kartagener syndrome