DNAI2 (dynein axonemal intermediate chain 2) - Rat Genome Database

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Gene: DNAI2 (dynein axonemal intermediate chain 2) Homo sapiens
Analyze
Symbol: DNAI2
Name: dynein axonemal intermediate chain 2
RGD ID: 1347605
HGNC Page HGNC:18744
Description: Enables microtubule motor activity. Acts upstream of or within cilium movement; determination of left/right symmetry; and outer dynein arm assembly. Located in axoneme and sperm flagellum. Part of outer dynein arm. Implicated in primary ciliary dyskinesia 9.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CILD9; DIC2; dynein intermediate chain 2, axonemal; dynein, axonemal, intermediate chain 2; dynein, axonemal, intermediate polypeptide 2; oda6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381774,274,234 - 74,314,884 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1774,274,234 - 74,314,884 (+)EnsemblGRCh38hg38GRCh38
GRCh371772,270,373 - 72,311,023 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361769,782,007 - 69,822,618 (+)NCBINCBI36Build 36hg18NCBI36
Build 341769,789,245 - 69,822,617NCBI
Celera1768,862,977 - 68,903,740 (+)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1767,680,718 - 67,720,707 (+)NCBIHuRef
CHM1_11772,334,947 - 72,375,682 (+)NCBICHM1_1
T2T-CHM13v2.01775,165,033 - 75,205,531 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal atrial arrangement  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal inferior vena cava morphology  (IAGP)
Abnormal sperm motility  (IAGP)
Abnormal sputum  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the skeletal system  (IAGP)
Absent outer dynein arms  (IAGP)
Airway obstruction  (IAGP)
Anomalous pulmonary venous return  (IAGP)
Asplenia  (IAGP)
Atelectasis  (IAGP)
Atrial situs ambiguous  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bronchiectasis  (IAGP)
Chronic otitis media  (IAGP)
Chronic rhinitis  (IAGP)
Chronic sinusitis  (IAGP)
Ciliary dyskinesia  (IAGP)
Clubbing  (IAGP)
Conductive hearing impairment  (IAGP)
Cough  (IAGP)
Decreased nasal nitric oxide  (IAGP)
Delayed speech and language development  (IAGP)
Double outlet right ventricle  (IAGP)
Ectopic pregnancy  (IAGP)
Female infertility  (IAGP)
Hearing impairment  (IAGP)
Hydrocephalus  (IAGP)
Intestinal malrotation  (IAGP)
Lithoptysis  (IAGP)
Male infertility  (IAGP)
Morphological central nervous system abnormality  (IAGP)
Nasal congestion  (IAGP)
Nasal polyposis  (IAGP)
Neonatal onset  (IAGP)
Neonatal respiratory distress  (IAGP)
Peribronchovascular interstitial thickening  (IAGP)
Persistent left superior vena cava  (IAGP)
Pneumonia  (IAGP)
Polysplenia  (IAGP)
Productive cough  (IAGP)
Pulmonary situs ambiguus  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Recurrent sinusitis  (IAGP)
Respiratory failure  (IAGP)
Respiratory tract infection  (IAGP)
Rod-cone dystrophy  (IAGP)
Situs inversus totalis  (IAGP)
Transposition of the great arteries  (IAGP)
Ventriculomegaly  (IAGP)
Wheezing  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11153919   PMID:12477932   PMID:18950741   PMID:20301301   PMID:20379614   PMID:21130836   PMID:21873635   PMID:21953912   PMID:23261302   PMID:23849778   PMID:25015291   PMID:25232951  
PMID:28176794   PMID:28514442   PMID:33961781   PMID:36724073  


Genomics

Comparative Map Data
DNAI2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381774,274,234 - 74,314,884 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1774,274,234 - 74,314,884 (+)EnsemblGRCh38hg38GRCh38
GRCh371772,270,373 - 72,311,023 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361769,782,007 - 69,822,618 (+)NCBINCBI36Build 36hg18NCBI36
Build 341769,789,245 - 69,822,617NCBI
Celera1768,862,977 - 68,903,740 (+)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1767,680,718 - 67,720,707 (+)NCBIHuRef
CHM1_11772,334,947 - 72,375,682 (+)NCBICHM1_1
T2T-CHM13v2.01775,165,033 - 75,205,531 (+)NCBIT2T-CHM13v2.0
Dnai2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911114,614,634 - 114,648,715 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11114,618,234 - 114,648,715 (+)EnsemblGRCm39 Ensembl
GRCm3811114,721,341 - 114,757,889 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11114,727,408 - 114,757,889 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711114,836,463 - 114,869,084 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611114,545,238 - 114,551,798 (+)NCBIMGSCv36mm8
Celera11126,487,744 - 126,521,084 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1180.19NCBI
Dnai2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810100,259,022 - 100,292,427 (+)NCBIGRCr8
mRatBN7.21099,759,966 - 99,793,379 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1099,759,966 - 99,793,378 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10104,818,343 - 104,851,989 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010104,281,454 - 104,315,106 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01099,681,017 - 99,714,437 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010103,266,343 - 103,301,521 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10103,266,296 - 103,301,544 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010102,925,918 - 102,959,579 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410104,606,688 - 104,641,181 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110104,621,191 - 104,655,684 (+)NCBI
Celera1098,350,675 - 98,383,762 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Dnai2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555531,188,279 - 1,212,053 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555531,188,279 - 1,212,053 (+)NCBIChiLan1.0ChiLan1.0
DNAI2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21990,304,170 - 90,345,791 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11795,126,576 - 95,168,188 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01768,212,341 - 68,253,732 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11773,770,753 - 73,811,845 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1773,770,753 - 73,811,845 (+)Ensemblpanpan1.1panPan2
DNAI2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.196,085,021 - 6,114,187 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl96,085,459 - 6,114,351 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha96,706,851 - 6,735,967 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.096,757,488 - 6,786,578 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl96,757,914 - 6,786,618 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.196,797,985 - 6,827,061 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.096,901,554 - 6,930,610 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.096,961,473 - 6,990,611 (-)NCBIUU_Cfam_GSD_1.0
Dnai2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056026,665,719 - 6,697,307 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936655163,565 - 188,431 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNAI2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl126,809,335 - 6,832,766 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1126,808,966 - 6,832,767 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2126,776,343 - 6,799,288 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DNAI2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11647,318,477 - 47,348,767 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1647,319,138 - 47,348,839 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607718,131,998 - 18,167,196 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnai2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248014,252,814 - 4,280,227 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248014,252,779 - 4,284,432 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNAI2
715 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn) single nucleotide variant Primary ciliary dyskinesia 9 [RCV002497045]|Primary ciliary dyskinesia [RCV000548646] Chr17:74289715 [GRCh38]
Chr17:72285854 [GRCh37]
Chr17:17q25.1		 uncertain significance
DNAI2, TRP453TER single nucleotide variant Ciliary dyskinesia, primary, 9 [RCV000032857] Chr17:17q25 pathogenic
NM_023036.6(DNAI2):c.1494+1G>A single nucleotide variant Primary ciliary dyskinesia 9 [RCV000005241]|Primary ciliary dyskinesia [RCV001383568]|not provided [RCV004719624] Chr17:74310164 [GRCh38]
Chr17:72306303 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.70C>G (p.Gln24Glu) single nucleotide variant Primary ciliary dyskinesia [RCV000551980] Chr17:74281887 [GRCh38]
Chr17:72278026 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val) single nucleotide variant Primary ciliary dyskinesia 9 [RCV002506287]|Primary ciliary dyskinesia [RCV000549595] Chr17:74312171 [GRCh38]
Chr17:72308310 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.296A>C (p.Lys99Thr) single nucleotide variant Primary ciliary dyskinesia [RCV000542557] Chr17:74285152 [GRCh38]
Chr17:72281291 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.346-3T>G single nucleotide variant Primary ciliary dyskinesia 9 [RCV000005242]|Primary ciliary dyskinesia [RCV001385859]|not provided [RCV004719625] Chr17:74286974 [GRCh38]
Chr17:72283113 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000005243]|Primary ciliary dyskinesia [RCV000810716]|not provided [RCV004719626] Chr17:74299780 [GRCh38]
Chr17:72295919 [GRCh37]
Chr17:17q25.1		 pathogenic
GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3 copy number gain See cases [RCV000050454] Chr17:73851698..74610813 [GRCh38]
Chr17:71847837..72606952 [GRCh37]
Chr17:69359432..70118547 [NCBI36]
Chr17:17q25.1		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q25.1(chr17:73843095-74670538)x3 copy number gain See cases [RCV000053594] Chr17:73843095..74670538 [GRCh38]
Chr17:71839234..72666677 [GRCh37]
Chr17:69350829..70178272 [NCBI36]
Chr17:17q25.1		 benign
GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3 copy number gain See cases [RCV000053597] Chr17:73851698..74732123 [GRCh38]
Chr17:71847837..72728262 [GRCh37]
Chr17:69359432..70239857 [NCBI36]
Chr17:17q25.1		 benign
NM_023036.4(DNAI2):c.654A>C (p.Pro218=) single nucleotide variant Malignant melanoma [RCV000071654] Chr17:74291063 [GRCh38]
Chr17:72287202 [GRCh37]
Chr17:69798797 [NCBI36]
Chr17:17q25.1		 not provided
NM_023036.6(DNAI2):c.1494+1G>C single nucleotide variant Kartagener syndrome [RCV000055951] Chr17:74310164 [GRCh38]
Chr17:72306303 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094489]|Primary ciliary dyskinesia [RCV000298854]|not provided [RCV003322757]|not specified [RCV000174160] Chr17:74310077 [GRCh38]
Chr17:72306216 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.611-4A>G single nucleotide variant Primary ciliary dyskinesia [RCV001394556] Chr17:74291016 [GRCh38]
Chr17:72287155 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.526_527insTA (p.Arg176fs) insertion Ciliary dyskinesia, primary, 9 [RCV001331271] Chr17:74289651..74289652 [GRCh38]
Chr17:72285790..72285791 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile) single nucleotide variant Primary ciliary dyskinesia [RCV001243976]|not provided [RCV000174403] Chr17:74312123 [GRCh38]
Chr17:72308262 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1619A>T (p.Asp540Val) single nucleotide variant Primary ciliary dyskinesia [RCV002516630]|not provided [RCV000174404] Chr17:74312127 [GRCh38]
Chr17:72308266 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh38/hg38 17q25.1(chr17:73851718-74610906)x3 copy number gain See cases [RCV000134803] Chr17:73851718..74610906 [GRCh38]
Chr17:71847857..72607045 [GRCh37]
Chr17:69359452..70118640 [NCBI36]
Chr17:17q25.1		 benign
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q25.1(chr17:73967269-74610906)x3 copy number gain See cases [RCV000139306] Chr17:73967269..74610906 [GRCh38]
Chr17:71963408..72607045 [GRCh37]
Chr17:69475003..70118640 [NCBI36]
Chr17:17q25.1		 likely benign
GRCh38/hg38 17q25.1(chr17:73851698-74651858)x3 copy number gain See cases [RCV000141106] Chr17:73851698..74651858 [GRCh38]
Chr17:71847837..72647997 [GRCh37]
Chr17:69359432..70159592 [NCBI36]
Chr17:17q25.1		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3 copy number gain See cases [RCV000148091] Chr17:73851698..74610813 [GRCh38]
Chr17:71847837..72606952 [GRCh37]
Chr17:69359432..70118547 [NCBI36]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.834C>T (p.Thr278=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000610730]|Primary ciliary dyskinesia [RCV000275664]|not provided [RCV001705998]|not specified [RCV000150498] Chr17:74299827 [GRCh38]
Chr17:72295966 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_023036.6(DNAI2):c.1062A>G (p.Glu354=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000600469]|Primary ciliary dyskinesia [RCV000339895]|not provided [RCV001705999]|not specified [RCV000150499] Chr17:74305293 [GRCh38]
Chr17:72301432 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1347+7C>T single nucleotide variant Primary ciliary dyskinesia 9 [RCV000607542]|Primary ciliary dyskinesia [RCV000399799]|not provided [RCV004709343]|not specified [RCV000150500] Chr17:74309395 [GRCh38]
Chr17:72305534 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1644C>A (p.Ala548=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000664894]|Primary ciliary dyskinesia [RCV000270287]|not provided [RCV001706000]|not specified [RCV000150501] Chr17:74312152 [GRCh38]
Chr17:72308291 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_023036.6(DNAI2):c.1672G>A (p.Ala558Thr) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000613061]|Primary ciliary dyskinesia [RCV000384675]|not provided [RCV001706001]|not specified [RCV000150502] Chr17:74312180 [GRCh38]
Chr17:72308319 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.865-5A>G single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094531]|Primary ciliary dyskinesia [RCV000389843]|not provided [RCV001706053]|not specified [RCV000155524] Chr17:74301041 [GRCh38]
Chr17:72297180 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=) single nucleotide variant Primary ciliary dyskinesia [RCV001079629]|not provided [RCV000180683] Chr17:74305419 [GRCh38]
Chr17:72301558 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.522C>T (p.Gly174=) single nucleotide variant Primary ciliary dyskinesia [RCV000198553] Chr17:74289648 [GRCh38]
Chr17:72285787 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001124099]|Primary ciliary dyskinesia [RCV000226666]|not provided [RCV002285282]|not specified [RCV000220202] Chr17:74289716 [GRCh38]
Chr17:72285855 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000410372]|Primary ciliary dyskinesia [RCV000220262]|not provided [RCV004767162] Chr17:74309345 [GRCh38]
Chr17:72305484 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
NM_023036.6(DNAI2):c.*13G>A single nucleotide variant not specified [RCV000222647] Chr17:74314229 [GRCh38]
Chr17:72310368 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000665933]|Primary ciliary dyskinesia [RCV000231775]|not provided [RCV002285281]|not specified [RCV000216401] Chr17:74285090 [GRCh38]
Chr17:72281229 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_023036.6(DNAI2):c.1483G>A (p.Val495Ile) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094490]|Primary ciliary dyskinesia [RCV000356003]|not provided [RCV001706233]|not specified [RCV000223356] Chr17:74310152 [GRCh38]
Chr17:72306291 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000667140]|Primary ciliary dyskinesia [RCV000861979]|not specified [RCV000217045] Chr17:74289697 [GRCh38]
Chr17:72285836 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.759G>A (p.Ala253=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094495]|Primary ciliary dyskinesia [RCV000229451]|not specified [RCV000244008] Chr17:74299752 [GRCh38]
Chr17:72295891 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=) single nucleotide variant DNAI2-related disorder [RCV003967663]|Primary ciliary dyskinesia 9 [RCV001124194]|Primary ciliary dyskinesia [RCV000230112]|not provided [RCV003422157] Chr17:74312152 [GRCh38]
Chr17:72308291 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_023036.6(DNAI2):c.1318G>C (p.Glu440Gln) single nucleotide variant Primary ciliary dyskinesia [RCV000231927] Chr17:74309359 [GRCh38]
Chr17:72305498 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094498]|Primary ciliary dyskinesia [RCV000232038]|not provided [RCV003417837]|not specified [RCV000613204] Chr17:74312082 [GRCh38]
Chr17:72308221 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.854C>T (p.Thr285Met) single nucleotide variant Primary ciliary dyskinesia [RCV000232803]|not provided [RCV003329268] Chr17:74299847 [GRCh38]
Chr17:72295986 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1165C>G (p.Arg389Gly) single nucleotide variant Primary ciliary dyskinesia [RCV000234116] Chr17:74305396 [GRCh38]
Chr17:72301535 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1431C>G (p.Thr477=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001123106]|Primary ciliary dyskinesia [RCV000228066]|not provided [RCV004705065]|not specified [RCV000254366] Chr17:74310100 [GRCh38]
Chr17:72306239 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000668832]|Primary ciliary dyskinesia [RCV000226222] Chr17:74312108 [GRCh38]
Chr17:72308247 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1420G>A (p.Gly474Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000234217] Chr17:74310089 [GRCh38]
Chr17:72306228 [GRCh37]
Chr17:17q25.1		 pathogenic|uncertain significance
NM_023036.6(DNAI2):c.124G>A (p.Val42Met) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001127059]|Primary ciliary dyskinesia [RCV000229077]|not provided [RCV004705064]|not specified [RCV000246644] Chr17:74281941 [GRCh38]
Chr17:72278080 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter) single nucleotide variant Primary ciliary dyskinesia 9 [RCV002490939]|Primary ciliary dyskinesia [RCV000560492] Chr17:74310083 [GRCh38]
Chr17:72306222 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
NM_023036.6(DNAI2):c.1697del (p.Asp566fs) deletion Primary ciliary dyskinesia [RCV001859675]|not provided [RCV000321378] Chr17:74312205 [GRCh38]
Chr17:72308344 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1131G>A (p.Pro377=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000398227]|Primary ciliary dyskinesia [RCV000858142]|not provided [RCV001568723]|not specified [RCV000243505] Chr17:74305362 [GRCh38]
Chr17:72301501 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.865-18C>T single nucleotide variant Primary ciliary dyskinesia [RCV002058321]|not provided [RCV002225569]|not specified [RCV000253536] Chr17:74301028 [GRCh38]
Chr17:72297167 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000660505]|Primary ciliary dyskinesia [RCV000629582]|not specified [RCV000253780] Chr17:74312223 [GRCh38]
Chr17:72308362 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_023036.6(DNAI2):c.467+10T>C single nucleotide variant Primary ciliary dyskinesia [RCV001434013]|not specified [RCV000251376] Chr17:74287108 [GRCh38]
Chr17:72283247 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001124101]|Primary ciliary dyskinesia [RCV001257056]|not provided [RCV000724929]|not specified [RCV000253831] Chr17:74299747 [GRCh38]
Chr17:72295886 [GRCh37]
Chr17:17q25.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.43G>A (p.Gly15Arg) single nucleotide variant Primary ciliary dyskinesia [RCV002518653]|not specified [RCV000241834] Chr17:74281860 [GRCh38]
Chr17:72277999 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.45G>A (p.Gly15=) single nucleotide variant Primary ciliary dyskinesia [RCV000868571]|not specified [RCV000246630] Chr17:74281862 [GRCh38]
Chr17:72278001 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.747C>T (p.Gly249=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094494]|Primary ciliary dyskinesia [RCV000260280]|not provided [RCV001571171]|not specified [RCV000249074] Chr17:74299740 [GRCh38]
Chr17:72295879 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.1572G>A (p.Lys524=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094497]|Primary ciliary dyskinesia [RCV000275999]|not specified [RCV000254109] Chr17:74312080 [GRCh38]
Chr17:72308219 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.258C>T (p.Asn86=) single nucleotide variant not specified [RCV000246893] Chr17:74285114 [GRCh38]
Chr17:72281253 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1011C>T (p.Thr337=) single nucleotide variant Primary ciliary dyskinesia [RCV000546600]|not specified [RCV000242181] Chr17:74305242 [GRCh38]
Chr17:72301381 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.725-27C>T single nucleotide variant not provided [RCV001597024]|not specified [RCV000244492] Chr17:74299691 [GRCh38]
Chr17:72295830 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_023036.6(DNAI2):c.1446G>T (p.Ser482=) single nucleotide variant Primary ciliary dyskinesia [RCV001504444]|not specified [RCV000244523] Chr17:74310115 [GRCh38]
Chr17:72306254 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1053G>A (p.Thr351=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094537]|Primary ciliary dyskinesia [RCV000292014]|not provided [RCV001706361]|not specified [RCV000246980] Chr17:74305284 [GRCh38]
Chr17:72301423 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_023036.6(DNAI2):c.468-28C>T single nucleotide variant not provided [RCV001668584]|not specified [RCV000244808] Chr17:74289566 [GRCh38]
Chr17:72285705 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1380G>T (p.Val460=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001123105]|Primary ciliary dyskinesia [RCV000471278]|not specified [RCV000249578] Chr17:74310049 [GRCh38]
Chr17:72306188 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.*18C>T single nucleotide variant not specified [RCV000247293] Chr17:74314234 [GRCh38]
Chr17:72310373 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.345+27A>G single nucleotide variant Primary ciliary dyskinesia 9 [RCV001542919]|not provided [RCV001668583]|not specified [RCV000250083] Chr17:74285228 [GRCh38]
Chr17:72281367 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000673020]|Primary ciliary dyskinesia [RCV000288500]|not specified [RCV000250109] Chr17:74301114 [GRCh38]
Chr17:72297253 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.1722+41C>T single nucleotide variant Primary ciliary dyskinesia 9 [RCV001542925]|not provided [RCV001640572]|not specified [RCV000250339] Chr17:74312271 [GRCh38]
Chr17:72308410 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.610+31G>A single nucleotide variant Primary ciliary dyskinesia 9 [RCV001542921]|not provided [RCV001618468]|not specified [RCV000252703] Chr17:74289767 [GRCh38]
Chr17:72285906 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1722+34G>A single nucleotide variant Primary ciliary dyskinesia 9 [RCV001542924]|not provided [RCV001683111]|not specified [RCV000245604] Chr17:74312264 [GRCh38]
Chr17:72308403 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.*22G>A single nucleotide variant not specified [RCV000250406] Chr17:74314238 [GRCh38]
Chr17:72310377 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1348-39CT[2] microsatellite not specified [RCV000243191] Chr17:74309978..74309979 [GRCh38]
Chr17:72306117..72306118 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.981T>C (p.Ser327=) single nucleotide variant Primary ciliary dyskinesia [RCV001416646]|not specified [RCV000253250] Chr17:74301162 [GRCh38]
Chr17:72297301 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1165C>T (p.Arg389Cys) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000285918]|Primary ciliary dyskinesia [RCV002523009] Chr17:74305396 [GRCh38]
Chr17:72301535 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.325G>A (p.Ala109Thr) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000303661]|Primary ciliary dyskinesia [RCV002523006] Chr17:74285181 [GRCh38]
Chr17:72281320 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.-4C>T single nucleotide variant Primary ciliary dyskinesia 9 [RCV000288254] Chr17:74281814 [GRCh38]
Chr17:72277953 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.*19G>A single nucleotide variant Primary ciliary dyskinesia 9 [RCV000321983] Chr17:74314235 [GRCh38]
Chr17:72310374 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000311666]|Primary ciliary dyskinesia [RCV001242829]|not provided [RCV003229828] Chr17:74312041 [GRCh38]
Chr17:72308180 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1552C>T (p.Arg518Trp) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000368299]|Primary ciliary dyskinesia [RCV002402046] Chr17:74312060 [GRCh38]
Chr17:72308199 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1602T>C (p.Asp534=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000362489]|Primary ciliary dyskinesia [RCV001400509] Chr17:74312110 [GRCh38]
Chr17:72308249 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.253G>C (p.Val85Leu) single nucleotide variant not provided [RCV000340160] Chr17:74285109 [GRCh38]
Chr17:72281248 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094535]|Primary ciliary dyskinesia [RCV000327742]|not provided [RCV004705366] Chr17:74312168 [GRCh38]
Chr17:72308307 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.1489T>A (p.Ser497Thr) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000398972] Chr17:74310158 [GRCh38]
Chr17:72306297 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.-21C>T single nucleotide variant Primary ciliary dyskinesia 9 [RCV000351418] Chr17:74274336 [GRCh38]
Chr17:72270475 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094532]|Primary ciliary dyskinesia [RCV000327003]|not provided [RCV004703733] Chr17:74301130 [GRCh38]
Chr17:72297269 [GRCh37]
Chr17:17q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.1737AGA[2] (p.Glu581del) microsatellite Primary ciliary dyskinesia [RCV000263940] Chr17:74314135..74314137 [GRCh38]
Chr17:72310274..72310276 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.55+6G>A single nucleotide variant Primary ciliary dyskinesia 9 [RCV000378893]|not provided [RCV001572529] Chr17:74314277 [GRCh38]
Chr17:72310416 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.-72_-63del deletion Primary ciliary dyskinesia [RCV000331540] Chr17:74274285..74274294 [GRCh38]
Chr17:72270424..72270433 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.864+4C>T single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094530]|Primary ciliary dyskinesia [RCV000333022] Chr17:74299861 [GRCh38]
Chr17:72296000 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.318C>T (p.Tyr106=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000389949]|Primary ciliary dyskinesia [RCV001443496] Chr17:74285174 [GRCh38]
Chr17:72281313 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.828G>A (p.Thr276=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094496]|Primary ciliary dyskinesia [RCV000356335] Chr17:74299821 [GRCh38]
Chr17:72295960 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.565C>T (p.Arg189Trp) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000391089]|Primary ciliary dyskinesia [RCV002523007] Chr17:74289691 [GRCh38]
Chr17:72285830 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.468-4G>T single nucleotide variant DNAI2-related disorder [RCV003912348]|Primary ciliary dyskinesia 9 [RCV001094488]|Primary ciliary dyskinesia [RCV000358485]|not provided [RCV003418021] Chr17:74289590 [GRCh38]
Chr17:72285729 [GRCh37]
Chr17:17q25.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094533]|Primary ciliary dyskinesia [RCV000383990] Chr17:74305231 [GRCh38]
Chr17:72301370 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.-17C>A single nucleotide variant Primary ciliary dyskinesia 9 [RCV000394695] Chr17:74274340 [GRCh38]
Chr17:72270479 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.-21C>A single nucleotide variant Primary ciliary dyskinesia [RCV000296479] Chr17:74274336 [GRCh38]
Chr17:72270475 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.-54A>G single nucleotide variant Primary ciliary dyskinesia 9 [RCV000386036]|not provided [RCV004709741] Chr17:74274303 [GRCh38]
Chr17:72270442 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094536]|Primary ciliary dyskinesia [RCV000347857]|not provided [RCV003226921] Chr17:74281951 [GRCh38]
Chr17:72278090 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.610+12C>T single nucleotide variant Primary ciliary dyskinesia 9 [RCV000304866]|Primary ciliary dyskinesia [RCV002523008] Chr17:74289748 [GRCh38]
Chr17:72285887 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.*272C>G single nucleotide variant Primary ciliary dyskinesia 9 [RCV000286717] Chr17:74314805 [GRCh38]
Chr17:72310944 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.611-3T>C single nucleotide variant Primary ciliary dyskinesia 9 [RCV000355106] Chr17:74291017 [GRCh38]
Chr17:72287156 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1248C>T (p.Ser416=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001094538]|Primary ciliary dyskinesia [RCV000343228] Chr17:74309289 [GRCh38]
Chr17:72305428 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.610+1G>A single nucleotide variant Primary ciliary dyskinesia [RCV000527031]|Respiratory ciliopathies including non-CF bronchiectasis [RCV004584143] Chr17:74289737 [GRCh38]
Chr17:72285876 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp) single nucleotide variant Primary ciliary dyskinesia [RCV000629457] Chr17:74291110 [GRCh38]
Chr17:72287249 [GRCh37]
Chr17:17q25.1		 likely pathogenic|uncertain significance
NC_000017.10:g.(?_72277937)_(72310375_?)dup duplication Primary ciliary dyskinesia [RCV000629664] Chr17:74281798..74314236 [GRCh38]
Chr17:72277937..72310375 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1252G>A (p.Val418Met) single nucleotide variant Primary ciliary dyskinesia [RCV000806316] Chr17:74309293 [GRCh38]
Chr17:72305432 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.231C>T (p.Val77=) single nucleotide variant Primary ciliary dyskinesia [RCV000527715] Chr17:74285087 [GRCh38]
Chr17:72281226 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala) single nucleotide variant Primary ciliary dyskinesia [RCV000541645] Chr17:74291094 [GRCh38]
Chr17:72287233 [GRCh37]
Chr17:17q25.1		 benign|uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
NM_023036.6(DNAI2):c.1327G>A (p.Asp443Asn) single nucleotide variant Primary ciliary dyskinesia 9 [RCV002481658]|Primary ciliary dyskinesia [RCV001835831]|not provided [RCV000515061] Chr17:74309368 [GRCh38]
Chr17:72305507 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:71940807-72667784)x3 copy number gain See cases [RCV000445893] Chr17:71940807..72667784 [GRCh37]
Chr17:17q25.1		 likely benign
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
NC_000017.10:g.(?_72277946)_(72310410_?)dup duplication Primary ciliary dyskinesia [RCV000459252] Chr17:74281807..74314271 [GRCh38]
Chr17:72277946..72310410 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.876G>A (p.Trp292Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000474701] Chr17:74301057 [GRCh38]
Chr17:72297196 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1516C>T (p.Arg506Ter) single nucleotide variant DNAI2-related disorder [RCV004754437]|Primary ciliary dyskinesia [RCV000456361] Chr17:74312024 [GRCh38]
Chr17:72308163 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
NM_023036.6(DNAI2):c.883C>T (p.Arg295Ter) single nucleotide variant Primary ciliary dyskinesia 9 [RCV004698835]|Primary ciliary dyskinesia [RCV000471217]|not provided [RCV003223639] Chr17:74301064 [GRCh38]
Chr17:72297203 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
NM_023036.6(DNAI2):c.1179A>G (p.Glu393=) single nucleotide variant DNAI2-related disorder [RCV003942552]|Primary ciliary dyskinesia [RCV000456751] Chr17:74305410 [GRCh38]
Chr17:72301549 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.638T>G (p.Leu213Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000460949] Chr17:74291047 [GRCh38]
Chr17:72287186 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.467+5C>T single nucleotide variant Primary ciliary dyskinesia [RCV000464764] Chr17:74287103 [GRCh38]
Chr17:72283242 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.196C>T (p.Arg66Trp) single nucleotide variant DNAI2-related disorder [RCV003418182]|Primary ciliary dyskinesia [RCV000476012]|not provided [RCV004760507] Chr17:74285052 [GRCh38]
Chr17:72281191 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1506T>C (p.Arg502=) single nucleotide variant Primary ciliary dyskinesia [RCV000457680] Chr17:74312014 [GRCh38]
Chr17:72308153 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1660G>C (p.Asp554His) single nucleotide variant Primary ciliary dyskinesia [RCV000465073] Chr17:74312168 [GRCh38]
Chr17:72308307 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.788G>A (p.Arg263Gln) single nucleotide variant Primary ciliary dyskinesia [RCV000472685] Chr17:74299781 [GRCh38]
Chr17:72295920 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.119A>G (p.Gln40Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000461561] Chr17:74281936 [GRCh38]
Chr17:72278075 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001127062]|Primary ciliary dyskinesia [RCV000458143] Chr17:74285173 [GRCh38]
Chr17:72281312 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu) single nucleotide variant DNAI2-related disorder [RCV003932748]|Primary ciliary dyskinesia 9 [RCV001127060]|Primary ciliary dyskinesia [RCV000477163] Chr17:74285053 [GRCh38]
Chr17:72281192 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) single nucleotide variant Primary ciliary dyskinesia [RCV000466031]|not specified [RCV003235225] Chr17:74305373 [GRCh38]
Chr17:72301512 [GRCh37]
Chr17:17q25.1		 likely pathogenic|uncertain significance
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001123108]|Primary ciliary dyskinesia [RCV000466089]|not provided [RCV002285335] Chr17:74310131 [GRCh38]
Chr17:72306270 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys) single nucleotide variant Primary ciliary dyskinesia 9 [RCV002489053]|Primary ciliary dyskinesia [RCV000469954]|not provided [RCV002293440] Chr17:74281932 [GRCh38]
Chr17:72278071 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_023036.6(DNAI2):c.1357dup (p.Glu453fs) duplication Primary ciliary dyskinesia [RCV000550209] Chr17:74310025..74310026 [GRCh38]
Chr17:72306164..72306165 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1613C>T (p.Ala538Val) single nucleotide variant Primary ciliary dyskinesia [RCV004320192] Chr17:74312121 [GRCh38]
Chr17:72308260 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1682A>G (p.Lys561Arg) single nucleotide variant Primary ciliary dyskinesia [RCV004319481] Chr17:74312190 [GRCh38]
Chr17:72308329 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.598A>C (p.Ile200Leu) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001124100]|Primary ciliary dyskinesia [RCV000629593] Chr17:74289724 [GRCh38]
Chr17:72285863 [GRCh37]
Chr17:17q25.1		 benign|uncertain significance
NM_023036.6(DNAI2):c.1495-4C>A single nucleotide variant Primary ciliary dyskinesia [RCV000629612] Chr17:74311999 [GRCh38]
Chr17:72308138 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1134G>A (p.Lys378=) single nucleotide variant Primary ciliary dyskinesia [RCV003306354] Chr17:74305365 [GRCh38]
Chr17:72301504 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.853A>G (p.Thr285Ala) single nucleotide variant Primary ciliary dyskinesia [RCV003306355] Chr17:74299846 [GRCh38]
Chr17:72295985 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter) single nucleotide variant Primary ciliary dyskinesia 9 [RCV002477376]|Primary ciliary dyskinesia [RCV000629414] Chr17:74291127 [GRCh38]
Chr17:72287266 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr) single nucleotide variant Primary ciliary dyskinesia [RCV000557153] Chr17:74305433 [GRCh38]
Chr17:72301572 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.1415A>G (p.Gln472Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000534689] Chr17:74310084 [GRCh38]
Chr17:72306223 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1516C>A (p.Arg506=) single nucleotide variant Primary ciliary dyskinesia [RCV000629625] Chr17:74312024 [GRCh38]
Chr17:72308163 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001124193]|Primary ciliary dyskinesia [RCV000629649] Chr17:74312137 [GRCh38]
Chr17:72308276 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_023036.6(DNAI2):c.1723-1G>T single nucleotide variant Primary ciliary dyskinesia 9 [RCV000667141]|Primary ciliary dyskinesia [RCV000861095]|not provided [RCV003442012] Chr17:74314120 [GRCh38]
Chr17:72310259 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q25.1(chr17:71810700-72702515)x3 copy number gain not provided [RCV000683959] Chr17:71810700..72702515 [GRCh37]
Chr17:17q25.1		 likely benign
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NM_023036.6(DNAI2):c.546C>A (p.Tyr182Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000686069] Chr17:74289672 [GRCh38]
Chr17:72285811 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1422del (p.Thr475fs) deletion Primary ciliary dyskinesia [RCV000687614] Chr17:74310088 [GRCh38]
Chr17:72306227 [GRCh37]
Chr17:17q25.1		 pathogenic
NC_000017.11:g.(?_74299698)_(74305462_?)del deletion Primary ciliary dyskinesia [RCV000708373] Chr17:74299698..74305462 [GRCh38]
Chr17:72295837..72301601 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.284G>A (p.Arg95His) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001127061]|Primary ciliary dyskinesia [RCV000692330] Chr17:74285140 [GRCh38]
Chr17:72281279 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn) single nucleotide variant Primary ciliary dyskinesia 9 [RCV000765392]|Primary ciliary dyskinesia [RCV000687397]|not provided [RCV001756165] Chr17:74305384 [GRCh38]
Chr17:72301523 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp) single nucleotide variant Primary ciliary dyskinesia 9 [RCV002485657]|Primary ciliary dyskinesia [RCV000692808] Chr17:74301159 [GRCh38]
Chr17:72297298 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.11T>C (p.Val4Ala) single nucleotide variant Primary ciliary dyskinesia [RCV000704732] Chr17:74281828 [GRCh38]
Chr17:72277967 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.204G>C (p.Glu68Asp) single nucleotide variant Primary ciliary dyskinesia [RCV000703356] Chr17:74285060 [GRCh38]
Chr17:72281199 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1543C>T (p.Arg515Trp) single nucleotide variant Primary ciliary dyskinesia [RCV000806318] Chr17:74312051 [GRCh38]
Chr17:72308190 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.1(chr17:71822155-72690918)x3 copy number gain not provided [RCV000739661] Chr17:71822155..72690918 [GRCh37]
Chr17:17q25.1		 likely benign
GRCh37/hg19 17q25.1(chr17:71834001-72690918)x3 copy number gain not provided [RCV000739662] Chr17:71834001..72690918 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:71850605-72691928)x3 copy number gain not provided [RCV000739663] Chr17:71850605..72691928 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q25.1(chr17:72277879-72398544)x3 copy number gain not provided [RCV000739666] Chr17:72277879..72398544 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.468-207C>T single nucleotide variant not provided [RCV001707408] Chr17:74289387 [GRCh38]
Chr17:72285526 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.610+267T>C single nucleotide variant not provided [RCV001584649] Chr17:74290003 [GRCh38]
Chr17:72286142 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.324C>T (p.Asn108=) single nucleotide variant Primary ciliary dyskinesia [RCV000874451] Chr17:74285180 [GRCh38]
Chr17:72281319 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.184-157A>G single nucleotide variant not provided [RCV001571781] Chr17:74284883 [GRCh38]
Chr17:72281022 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.724+158G>A single nucleotide variant Primary ciliary dyskinesia 9 [RCV001542922]|not provided [RCV001692469] Chr17:74291291 [GRCh38]
Chr17:72287430 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1194G>A (p.Ser398=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001127178]|Primary ciliary dyskinesia [RCV000872695] Chr17:74305425 [GRCh38]
Chr17:72301564 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.184-88A>G single nucleotide variant not provided [RCV001574305] Chr17:74284952 [GRCh38]
Chr17:72281091 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1494+9C>T single nucleotide variant Primary ciliary dyskinesia [RCV001427350] Chr17:74310172 [GRCh38]
Chr17:72306311 [GRCh37]
Chr17:17q25.1		 likely benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2		 likely pathogenic
NM_023036.6(DNAI2):c.724+251G>A single nucleotide variant not provided [RCV001551205] Chr17:74291384 [GRCh38]
Chr17:72287523 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.346-267C>G single nucleotide variant not provided [RCV001570220] Chr17:74286710 [GRCh38]
Chr17:72282849 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.183+51C>G single nucleotide variant not provided [RCV001566749] Chr17:74282051 [GRCh38]
Chr17:72278190 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1347+161T>C single nucleotide variant not provided [RCV001679417] Chr17:74309549 [GRCh38]
Chr17:72305688 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.123C>T (p.Phe41=) single nucleotide variant DNAI2-related disorder [RCV003948100]|Primary ciliary dyskinesia 9 [RCV001127058]|Primary ciliary dyskinesia [RCV000865271] Chr17:74281940 [GRCh38]
Chr17:72278079 [GRCh37]
Chr17:17q25.1		 benign|likely benign|uncertain significance
NM_023036.6(DNAI2):c.837G>A (p.Glu279=) single nucleotide variant Primary ciliary dyskinesia [RCV001411656] Chr17:74299830 [GRCh38]
Chr17:72295969 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.396G>A (p.Glu132=) single nucleotide variant Primary ciliary dyskinesia [RCV000866845] Chr17:74287027 [GRCh38]
Chr17:72283166 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_023036.6(DNAI2):c.468-8C>T single nucleotide variant Primary ciliary dyskinesia [RCV001425573] Chr17:74289586 [GRCh38]
Chr17:72285725 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1563G>A (p.Glu521=) single nucleotide variant not provided [RCV000942283] Chr17:74312071 [GRCh38]
Chr17:72308210 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.346-8C>T single nucleotide variant Primary ciliary dyskinesia [RCV001502781] Chr17:74286969 [GRCh38]
Chr17:72283108 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1485A>G (p.Val495=) single nucleotide variant DNAI2-related disorder [RCV003930375]|Primary ciliary dyskinesia [RCV000868675] Chr17:74310154 [GRCh38]
Chr17:72306293 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=) single nucleotide variant Primary ciliary dyskinesia [RCV000865252] Chr17:74312206 [GRCh38]
Chr17:72308345 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.725-5A>G single nucleotide variant Primary ciliary dyskinesia [RCV000928941] Chr17:74299713 [GRCh38]
Chr17:72295852 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=) single nucleotide variant Primary ciliary dyskinesia [RCV000868022] Chr17:74305296 [GRCh38]
Chr17:72301435 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.421G>T (p.Glu141Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001056487] Chr17:74287052 [GRCh38]
Chr17:72283191 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1105G>A (p.Ala369Thr) single nucleotide variant Primary ciliary dyskinesia 9 [RCV003611545]|Primary ciliary dyskinesia [RCV001060740] Chr17:74305336 [GRCh38]
Chr17:72301475 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile) single nucleotide variant Primary ciliary dyskinesia [RCV002372368]|not specified [RCV000825752] Chr17:74301072 [GRCh38]
Chr17:72297211 [GRCh37]
Chr17:17q25.1		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266) copy number gain not provided [RCV000767767] Chr17:70720436..73175266 [GRCh37]
Chr17:17q24.3-25.1		 pathogenic
NM_023036.6(DNAI2):c.725-2A>C single nucleotide variant Primary ciliary dyskinesia 9 [RCV000778513]|Primary ciliary dyskinesia [RCV001869133] Chr17:74299716 [GRCh38]
Chr17:72295855 [GRCh37]
Chr17:17q25.1		 likely pathogenic|uncertain significance
NM_023036.6(DNAI2):c.1086C>T (p.Gly362=) single nucleotide variant not provided [RCV000978186] Chr17:74305317 [GRCh38]
Chr17:72301456 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1432C>T (p.Leu478=) single nucleotide variant Primary ciliary dyskinesia [RCV000875182] Chr17:74310101 [GRCh38]
Chr17:72306240 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.303G>A (p.Glu101=) single nucleotide variant Primary ciliary dyskinesia [RCV001464920] Chr17:74285159 [GRCh38]
Chr17:72281298 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.39G>A (p.Glu13=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001126667]|Primary ciliary dyskinesia [RCV000942587] Chr17:74281856 [GRCh38]
Chr17:72277995 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.516C>T (p.Pro172=) single nucleotide variant Primary ciliary dyskinesia [RCV001441724] Chr17:74289642 [GRCh38]
Chr17:72285781 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.111G>A (p.Leu37=) single nucleotide variant Primary ciliary dyskinesia [RCV000866014] Chr17:74281928 [GRCh38]
Chr17:72278067 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1317C>T (p.Phe439=) single nucleotide variant Primary ciliary dyskinesia [RCV001402262] Chr17:74309358 [GRCh38]
Chr17:72305497 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1407C>T (p.Cys469=) single nucleotide variant Primary ciliary dyskinesia [RCV000861822] Chr17:74310076 [GRCh38]
Chr17:72306215 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1614C>T (p.Ala538=) single nucleotide variant Primary ciliary dyskinesia [RCV001412092] Chr17:74312122 [GRCh38]
Chr17:72308261 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1023C>T (p.Ile341=) single nucleotide variant Primary ciliary dyskinesia [RCV000874360] Chr17:74305254 [GRCh38]
Chr17:72301393 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.75C>G (p.Ala25=) single nucleotide variant Primary ciliary dyskinesia [RCV000875594] Chr17:74281892 [GRCh38]
Chr17:72278031 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1326C>T (p.Cys442=) single nucleotide variant Primary ciliary dyskinesia [RCV000868439] Chr17:74309367 [GRCh38]
Chr17:72305506 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1287C>T (p.Asp429=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001563899]|Primary ciliary dyskinesia [RCV000862469] Chr17:74309328 [GRCh38]
Chr17:72305467 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=) single nucleotide variant Primary ciliary dyskinesia [RCV000862561] Chr17:74305377 [GRCh38]
Chr17:72301516 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=) single nucleotide variant Primary ciliary dyskinesia [RCV000875178] Chr17:74309301 [GRCh38]
Chr17:72305440 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1005G>T (p.Val335=) single nucleotide variant Primary ciliary dyskinesia [RCV001427497] Chr17:74305236 [GRCh38]
Chr17:72301375 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1095C>T (p.Gly365=) single nucleotide variant Primary ciliary dyskinesia [RCV000928993] Chr17:74305326 [GRCh38]
Chr17:72301465 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1275C>A (p.Thr425=) single nucleotide variant Primary ciliary dyskinesia [RCV000932552] Chr17:74309316 [GRCh38]
Chr17:72305455 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.408C>A (p.Asp136Glu) single nucleotide variant Primary ciliary dyskinesia [RCV000797252] Chr17:74287039 [GRCh38]
Chr17:72283178 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1672_1673del (p.Ala558fs) deletion Primary ciliary dyskinesia [RCV000826102] Chr17:74312179..74312180 [GRCh38]
Chr17:72308318..72308319 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1040G>A (p.Arg347His) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001126763]|Primary ciliary dyskinesia [RCV000819869] Chr17:74305271 [GRCh38]
Chr17:72301410 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.289C>T (p.Arg97Trp) single nucleotide variant Primary ciliary dyskinesia [RCV000795683] Chr17:74285145 [GRCh38]
Chr17:72281284 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.184-1G>A single nucleotide variant Primary ciliary dyskinesia [RCV000806403] Chr17:74285039 [GRCh38]
Chr17:72281178 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1459_1460delinsCATT (p.Thr487fs) indel Primary ciliary dyskinesia [RCV000800651] Chr17:74310128..74310129 [GRCh38]
Chr17:72306267..72306268 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1132A>T (p.Lys378Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000818675] Chr17:74305363 [GRCh38]
Chr17:72301502 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1699G>A (p.Ala567Thr) single nucleotide variant Primary ciliary dyskinesia [RCV000813272] Chr17:74312207 [GRCh38]
Chr17:72308346 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1401C>G (p.Ile467Met) single nucleotide variant Primary ciliary dyskinesia [RCV000800983] Chr17:74310070 [GRCh38]
Chr17:72306209 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.521G>A (p.Gly174Asp) single nucleotide variant Primary ciliary dyskinesia [RCV000807869] Chr17:74289647 [GRCh38]
Chr17:72285786 [GRCh37]
Chr17:17q25.1		 uncertain significance
NC_000017.11:g.(?_74299708)_(74305452_?)del deletion Primary ciliary dyskinesia [RCV001031975] Chr17:72295847..72301591 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1429dup (p.Thr477fs) duplication Primary ciliary dyskinesia [RCV001067024] Chr17:74310097..74310098 [GRCh38]
Chr17:72306236..72306237 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1130C>A (p.Pro377Gln) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001127177]|Primary ciliary dyskinesia [RCV000810628] Chr17:74305361 [GRCh38]
Chr17:72301500 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.467+6G>A single nucleotide variant Primary ciliary dyskinesia [RCV000795816] Chr17:74287104 [GRCh38]
Chr17:72283243 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.146C>T (p.Thr49Met) single nucleotide variant Primary ciliary dyskinesia [RCV000791664] Chr17:74281963 [GRCh38]
Chr17:72278102 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.674del (p.Asn225fs) deletion Primary ciliary dyskinesia 9 [RCV000991402] Chr17:74291082 [GRCh38]
Chr17:72287221 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=) single nucleotide variant Primary ciliary dyskinesia [RCV000862562] Chr17:74312107 [GRCh38]
Chr17:72308246 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1251C>T (p.Pro417=) single nucleotide variant DNAI2-related disorder [RCV003908163]|Primary ciliary dyskinesia [RCV000861679] Chr17:74309292 [GRCh38]
Chr17:72305431 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1104C>T (p.Tyr368=) single nucleotide variant Primary ciliary dyskinesia [RCV000874347]|not provided [RCV004705844] Chr17:74305335 [GRCh38]
Chr17:72301474 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1401C>T (p.Ile467=) single nucleotide variant Primary ciliary dyskinesia [RCV000872156] Chr17:74310070 [GRCh38]
Chr17:72306209 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1389T>C (p.Asn463=) single nucleotide variant Primary ciliary dyskinesia [RCV001490625] Chr17:74310058 [GRCh38]
Chr17:72306197 [GRCh37]
Chr17:17q25.1		 likely benign
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NC_000017.11:g.(?_74309243)_(74310173_?)dup duplication Primary ciliary dyskinesia [RCV001032446] Chr17:72305382..72306312 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1683G>A (p.Lys561=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001126879]|Primary ciliary dyskinesia [RCV000870835] Chr17:74312191 [GRCh38]
Chr17:72308330 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.864+1G>T single nucleotide variant Primary ciliary dyskinesia [RCV001202302] Chr17:74299858 [GRCh38]
Chr17:72295997 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.866T>C (p.Val289Ala) single nucleotide variant Primary ciliary dyskinesia [RCV001245660] Chr17:74301047 [GRCh38]
Chr17:72297186 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.215G>A (p.Arg72Gln) single nucleotide variant Primary ciliary dyskinesia [RCV001243237] Chr17:74285071 [GRCh38]
Chr17:72281210 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.265G>A (p.Glu89Lys) single nucleotide variant Primary ciliary dyskinesia [RCV001242842] Chr17:74285121 [GRCh38]
Chr17:72281260 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.855G>A (p.Thr285=) single nucleotide variant DNAI2-related disorder [RCV003918798]|Primary ciliary dyskinesia [RCV001242399] Chr17:74299848 [GRCh38]
Chr17:72295987 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.1712C>T (p.Thr571Met) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001126880]|Primary ciliary dyskinesia [RCV002556766] Chr17:74312220 [GRCh38]
Chr17:72308359 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.319G>A (p.Val107Ile) single nucleotide variant Primary ciliary dyskinesia [RCV001247529] Chr17:74285175 [GRCh38]
Chr17:72281314 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.566G>A (p.Arg189Gln) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001123032]|Primary ciliary dyskinesia [RCV002348568]|not provided [RCV002293504] Chr17:74289692 [GRCh38]
Chr17:72285831 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.110T>C (p.Leu37Pro) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001126668] Chr17:74281927 [GRCh38]
Chr17:72278066 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1212-199G>C single nucleotide variant not provided [RCV001608980] Chr17:74309054 [GRCh38]
Chr17:72305193 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.892A>C (p.Ser298Arg) single nucleotide variant Primary ciliary dyskinesia [RCV001580360] Chr17:74301073 [GRCh38]
Chr17:72297212 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1212-116A>G single nucleotide variant not provided [RCV001544638] Chr17:74309137 [GRCh38]
Chr17:72305276 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1776G>A (p.Ala592=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001126881]|Primary ciliary dyskinesia [RCV000864501] Chr17:74314174 [GRCh38]
Chr17:72310313 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.483C>T (p.Ile161=) single nucleotide variant Primary ciliary dyskinesia [RCV001467662] Chr17:74289609 [GRCh38]
Chr17:72285748 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1758G>A (p.Glu586=) single nucleotide variant Primary ciliary dyskinesia [RCV001395419] Chr17:74314156 [GRCh38]
Chr17:72310295 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1761G>A (p.Glu587=) single nucleotide variant Primary ciliary dyskinesia [RCV001427895] Chr17:74314159 [GRCh38]
Chr17:72310298 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.657C>T (p.Leu219=) single nucleotide variant DNAI2-related disorder [RCV003948156]|Primary ciliary dyskinesia [RCV000869421] Chr17:74291066 [GRCh38]
Chr17:72287205 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1017G>A (p.Gln339=) single nucleotide variant Primary ciliary dyskinesia [RCV000870473] Chr17:74305248 [GRCh38]
Chr17:72301387 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1212-7C>T single nucleotide variant Primary ciliary dyskinesia [RCV001504212] Chr17:74309246 [GRCh38]
Chr17:72305385 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln) single nucleotide variant Primary ciliary dyskinesia [RCV000861287] Chr17:74285146 [GRCh38]
Chr17:72281285 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.798G>A (p.Val266=) single nucleotide variant Primary ciliary dyskinesia [RCV000928942] Chr17:74299791 [GRCh38]
Chr17:72295930 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.21C>T (p.Tyr7=) single nucleotide variant Primary ciliary dyskinesia [RCV000886402] Chr17:74281838 [GRCh38]
Chr17:72277977 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.339C>T (p.Leu113=) single nucleotide variant Primary ciliary dyskinesia [RCV000885781] Chr17:74285195 [GRCh38]
Chr17:72281334 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.966C>G (p.Ser322=) single nucleotide variant Primary ciliary dyskinesia [RCV001405903] Chr17:74301147 [GRCh38]
Chr17:72297286 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.340G>A (p.Gly114Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001244424] Chr17:74285196 [GRCh38]
Chr17:72281335 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.-22G>A single nucleotide variant Primary ciliary dyskinesia 9 [RCV001126666] Chr17:74274335 [GRCh38]
Chr17:72270474 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.*339C>T single nucleotide variant Primary ciliary dyskinesia 9 [RCV001127274] Chr17:74314872 [GRCh38]
Chr17:72311011 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1683del (p.Lys562fs) deletion Primary ciliary dyskinesia [RCV001244997] Chr17:74312191 [GRCh38]
Chr17:72308330 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1763del (p.Gly588fs) deletion Primary ciliary dyskinesia [RCV001223601] Chr17:74314159 [GRCh38]
Chr17:72310298 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.341G>T (p.Gly114Val) single nucleotide variant Primary ciliary dyskinesia [RCV001244116] Chr17:74285197 [GRCh38]
Chr17:72281336 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.988-172G>T single nucleotide variant not provided [RCV001720931] Chr17:74305047 [GRCh38]
Chr17:72301186 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1211+249_1211+250del deletion not provided [RCV001637312] Chr17:74305671..74305672 [GRCh38]
Chr17:72301810..72301811 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.*55+66G>A single nucleotide variant not provided [RCV001693603] Chr17:74314337 [GRCh38]
Chr17:72310476 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.724+95T>C single nucleotide variant not provided [RCV001558718] Chr17:74291228 [GRCh38]
Chr17:72287367 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1040G>C (p.Arg347Pro) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001563900] Chr17:74305271 [GRCh38]
Chr17:72301410 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.341_344del (p.Gly114fs) deletion Primary ciliary dyskinesia 9 [RCV002250936] Chr17:74285197..74285200 [GRCh38]
Chr17:72281336..72281339 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1211+127C>T single nucleotide variant not provided [RCV001676204] Chr17:74305569 [GRCh38]
Chr17:72301708 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.346-255G>C single nucleotide variant not provided [RCV001656401] Chr17:74286722 [GRCh38]
Chr17:72282861 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1494+308dup duplication not provided [RCV001569289] Chr17:74310459..74310460 [GRCh38]
Chr17:72306598..72306599 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.724+331G>A single nucleotide variant not provided [RCV001688356] Chr17:74291464 [GRCh38]
Chr17:72287603 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.-11-257G>A single nucleotide variant not provided [RCV001656888] Chr17:74281550 [GRCh38]
Chr17:72277689 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1211+92T>C single nucleotide variant not provided [RCV001593494] Chr17:74305534 [GRCh38]
Chr17:72301673 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1347+266C>T single nucleotide variant not provided [RCV001597728] Chr17:74309654 [GRCh38]
Chr17:72305793 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1211+250del deletion not provided [RCV001637432] Chr17:74305671 [GRCh38]
Chr17:72301810 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1495-152C>A single nucleotide variant not provided [RCV001652621] Chr17:74311851 [GRCh38]
Chr17:72307990 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.865-66G>A single nucleotide variant not provided [RCV001613750] Chr17:74300980 [GRCh38]
Chr17:72297119 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1347+288G>A single nucleotide variant not provided [RCV001677325] Chr17:74309676 [GRCh38]
Chr17:72305815 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.*138C>A single nucleotide variant Primary ciliary dyskinesia 9 [RCV001127272] Chr17:74314671 [GRCh38]
Chr17:72310810 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.*299A>G single nucleotide variant Primary ciliary dyskinesia 9 [RCV001127273] Chr17:74314832 [GRCh38]
Chr17:72310971 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.982A>G (p.Thr328Ala) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001126762] Chr17:74301163 [GRCh38]
Chr17:72297302 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1348-15C>G single nucleotide variant Primary ciliary dyskinesia 9 [RCV001123104]|Primary ciliary dyskinesia [RCV003537479] Chr17:74310002 [GRCh38]
Chr17:72306141 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.1455C>G (p.Leu485=) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001123107]|Primary ciliary dyskinesia [RCV001458247] Chr17:74310124 [GRCh38]
Chr17:72306263 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.1212-174dup duplication not provided [RCV001585466] Chr17:74309060..74309061 [GRCh38]
Chr17:72305199..72305200 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.-11-67A>G single nucleotide variant Primary ciliary dyskinesia 9 [RCV001542918]|not provided [RCV001658265] Chr17:74281740 [GRCh38]
Chr17:72277879 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.467+77G>T single nucleotide variant Primary ciliary dyskinesia 9 [RCV001542920]|not provided [RCV001655834] Chr17:74287175 [GRCh38]
Chr17:72283314 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1722+78G>A single nucleotide variant Primary ciliary dyskinesia 9 [RCV001542926]|not provided [RCV001685462] Chr17:74312308 [GRCh38]
Chr17:72308447 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1723-253C>T single nucleotide variant not provided [RCV001612487] Chr17:74313868 [GRCh38]
Chr17:72310007 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1495-53G>A single nucleotide variant not provided [RCV001616354] Chr17:74311950 [GRCh38]
Chr17:72308089 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.587G>A (p.Ser196Asn) single nucleotide variant Primary ciliary dyskinesia [RCV001204712] Chr17:74289713 [GRCh38]
Chr17:72285852 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1177G>A (p.Glu393Lys) single nucleotide variant Primary ciliary dyskinesia [RCV001212614] Chr17:74305408 [GRCh38]
Chr17:72301547 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1347+6G>A single nucleotide variant Primary ciliary dyskinesia [RCV001071466] Chr17:74309394 [GRCh38]
Chr17:72305533 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.433G>T (p.Glu145Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001056656] Chr17:74287064 [GRCh38]
Chr17:72283203 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.467+3A>G single nucleotide variant Primary ciliary dyskinesia 9 [RCV001123029]|not provided [RCV004773297] Chr17:74287101 [GRCh38]
Chr17:72283240 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1244G>A (p.Trp415Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001057264] Chr17:74309285 [GRCh38]
Chr17:72305424 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.947A>T (p.Asn316Ile) single nucleotide variant Primary ciliary dyskinesia [RCV001202943] Chr17:74301128 [GRCh38]
Chr17:72297267 [GRCh37]
Chr17:17q25.1		 uncertain significance
NC_000017.11:g.(?_74274200)_(74289746_?)del deletion Primary ciliary dyskinesia [RCV001032967] Chr17:72270339..72285885 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.531G>T (p.Lys177Asn) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001123030]|Primary ciliary dyskinesia [RCV002348567] Chr17:74289657 [GRCh38]
Chr17:72285796 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:71811005-72681118)x3 copy number gain not provided [RCV001006916] Chr17:71811005..72681118 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.535G>T (p.Ala179Ser) single nucleotide variant Primary ciliary dyskinesia 9 [RCV001123031] Chr17:74289661 [GRCh38]
Chr17:72285800 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.487A>G (p.Arg163Gly) single nucleotide variant Primary ciliary dyskinesia [RCV001039549] Chr17:74289613 [GRCh38]
Chr17:72285752 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1130C>T (p.Pro377Leu) single nucleotide variant Primary ciliary dyskinesia 9 [RCV002485998]|Primary ciliary dyskinesia [RCV001255264] Chr17:74305361 [GRCh38]
Chr17:72301500 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.346-10T>C single nucleotide variant Primary ciliary dyskinesia [RCV001481291] Chr17:74286967 [GRCh38]
Chr17:72283106 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1571A>G (p.Lys524Arg) single nucleotide variant Primary ciliary dyskinesia [RCV001338197] Chr17:74312079 [GRCh38]
Chr17:72308218 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.335A>G (p.Gln112Arg) single nucleotide variant Primary ciliary dyskinesia [RCV001305197] Chr17:74285191 [GRCh38]
Chr17:72281330 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.965C>A (p.Ser322Tyr) single nucleotide variant Primary ciliary dyskinesia [RCV001341028] Chr17:74301146 [GRCh38]
Chr17:72297285 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.969G>C (p.Leu323=) single nucleotide variant Primary ciliary dyskinesia [RCV001433023] Chr17:74301150 [GRCh38]
Chr17:72297289 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.51G>A (p.Gln17=) single nucleotide variant Primary ciliary dyskinesia [RCV001421173] Chr17:74281868 [GRCh38]
Chr17:72278007 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.810C>G (p.Ile270Met) single nucleotide variant Primary ciliary dyskinesia [RCV001279290] Chr17:74299803 [GRCh38]
Chr17:72295942 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.336G>A (p.Gln112=) single nucleotide variant Primary ciliary dyskinesia [RCV001433915] Chr17:74285192 [GRCh38]
Chr17:72281331 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1773A>G (p.Ala591=) single nucleotide variant Primary ciliary dyskinesia [RCV001422787] Chr17:74314171 [GRCh38]
Chr17:72310310 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.664T>C (p.Leu222=) single nucleotide variant Primary ciliary dyskinesia [RCV001421991] Chr17:74291073 [GRCh38]
Chr17:72287212 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1722+1G>A single nucleotide variant Primary ciliary dyskinesia [RCV001351283] Chr17:74312231 [GRCh38]
Chr17:72308370 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.804C>G (p.Gly268=) single nucleotide variant Primary ciliary dyskinesia [RCV001396001] Chr17:74299797 [GRCh38]
Chr17:72295936 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.663G>A (p.Thr221=) single nucleotide variant Primary ciliary dyskinesia [RCV001279289] Chr17:74291072 [GRCh38]
Chr17:72287211 [GRCh37]
Chr17:17q25.1		 likely benign|uncertain significance
NM_023036.6(DNAI2):c.1527C>A (p.Ile509=) single nucleotide variant Primary ciliary dyskinesia [RCV001395174] Chr17:74312035 [GRCh38]
Chr17:72308174 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.940T>C (p.Leu314=) single nucleotide variant Primary ciliary dyskinesia [RCV001421422] Chr17:74301121 [GRCh38]
Chr17:72297260 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.409G>A (p.Glu137Lys) single nucleotide variant Primary ciliary dyskinesia [RCV001372050] Chr17:74287040 [GRCh38]
Chr17:72283179 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1786G>A (p.Gly596Arg) single nucleotide variant Primary ciliary dyskinesia [RCV001365921] Chr17:74314184 [GRCh38]
Chr17:72310323 [GRCh37]
Chr17:17q25.1		 uncertain significance
NC_000017.10:g.(?_72297175)_(72301591_?)dup duplication Primary ciliary dyskinesia [RCV001377555] Chr17:72297175..72301591 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.162G>A (p.Ser54=) single nucleotide variant Primary ciliary dyskinesia [RCV001417026] Chr17:74281979 [GRCh38]
Chr17:72278118 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.621C>T (p.Asn207=) single nucleotide variant Primary ciliary dyskinesia [RCV001495719] Chr17:74291030 [GRCh38]
Chr17:72287169 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1713G>C (p.Thr571=) single nucleotide variant Primary ciliary dyskinesia [RCV001468592] Chr17:74312221 [GRCh38]
Chr17:72308360 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.657C>G (p.Leu219=) single nucleotide variant Primary ciliary dyskinesia [RCV001405030] Chr17:74291066 [GRCh38]
Chr17:72287205 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1071G>A (p.Val357=) single nucleotide variant Primary ciliary dyskinesia [RCV001490998] Chr17:74305302 [GRCh38]
Chr17:72301441 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1200C>T (p.Ile400=) single nucleotide variant Primary ciliary dyskinesia [RCV001473765] Chr17:74305431 [GRCh38]
Chr17:72301570 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1713G>A (p.Thr571=) single nucleotide variant Primary ciliary dyskinesia [RCV001468761] Chr17:74312221 [GRCh38]
Chr17:72308360 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.903T>C (p.Thr301=) single nucleotide variant Primary ciliary dyskinesia [RCV001451755] Chr17:74301084 [GRCh38]
Chr17:72297223 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1659C>T (p.Phe553=) single nucleotide variant Primary ciliary dyskinesia [RCV001400082] Chr17:74312167 [GRCh38]
Chr17:72308306 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.495C>T (p.Ala165=) single nucleotide variant Primary ciliary dyskinesia [RCV001483246] Chr17:74289621 [GRCh38]
Chr17:72285760 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.725-8C>T single nucleotide variant Primary ciliary dyskinesia [RCV001467720] Chr17:74299710 [GRCh38]
Chr17:72295849 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.816G>A (p.Leu272=) single nucleotide variant Primary ciliary dyskinesia [RCV001491419] Chr17:74299809 [GRCh38]
Chr17:72295948 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.865-6_865-5inv inversion Primary ciliary dyskinesia [RCV001475609] Chr17:74301040..74301041 [GRCh38]
Chr17:72297179..72297180 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.42C>T (p.Phe14=) single nucleotide variant Primary ciliary dyskinesia [RCV001480411] Chr17:74281859 [GRCh38]
Chr17:72277998 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.252C>T (p.Asp84=) single nucleotide variant Primary ciliary dyskinesia [RCV001439889] Chr17:74285108 [GRCh38]
Chr17:72281247 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.9T>C (p.Ile3=) single nucleotide variant Primary ciliary dyskinesia [RCV001504442] Chr17:74281826 [GRCh38]
Chr17:72277965 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1209C>A (p.Thr403=) single nucleotide variant Primary ciliary dyskinesia [RCV001484363] Chr17:74305440 [GRCh38]
Chr17:72301579 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.467+7C>T single nucleotide variant Primary ciliary dyskinesia [RCV001464194] Chr17:74287105 [GRCh38]
Chr17:72283244 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.720G>A (p.Gln240=) single nucleotide variant Primary ciliary dyskinesia [RCV001501722] Chr17:74291129 [GRCh38]
Chr17:72287268 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.184-8C>T single nucleotide variant Primary ciliary dyskinesia [RCV001416243] Chr17:74285032 [GRCh38]
Chr17:72281171 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.468-2A>G single nucleotide variant Primary ciliary dyskinesia [RCV001377385] Chr17:74289592 [GRCh38]
Chr17:72285731 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.747C>A (p.Gly249=) single nucleotide variant Primary ciliary dyskinesia [RCV001456743] Chr17:74299740 [GRCh38]
Chr17:72295879 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.21C>G (p.Tyr7Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001387980] Chr17:74281838 [GRCh38]
Chr17:72277977 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.669G>A (p.Glu223=) single nucleotide variant Primary ciliary dyskinesia [RCV001448566] Chr17:74291078 [GRCh38]
Chr17:72287217 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.739C>T (p.Arg247Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001389419] Chr17:74299732 [GRCh38]
Chr17:72295871 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.585C>T (p.Ser195=) single nucleotide variant Primary ciliary dyskinesia [RCV001399024] Chr17:74289711 [GRCh38]
Chr17:72285850 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1626G>A (p.Glu542=) single nucleotide variant Primary ciliary dyskinesia [RCV001400764] Chr17:74312134 [GRCh38]
Chr17:72308273 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.675C>T (p.Asn225=) single nucleotide variant Primary ciliary dyskinesia [RCV001448798] Chr17:74291084 [GRCh38]
Chr17:72287223 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.987+9C>G single nucleotide variant Primary ciliary dyskinesia [RCV001394286] Chr17:74301177 [GRCh38]
Chr17:72297316 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1356C>T (p.Asp452=) single nucleotide variant Primary ciliary dyskinesia [RCV001403184] Chr17:74310025 [GRCh38]
Chr17:72306164 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.732G>A (p.Trp244Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001382308] Chr17:74299725 [GRCh38]
Chr17:72295864 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.198G>A (p.Arg66=) single nucleotide variant Primary ciliary dyskinesia [RCV001446424] Chr17:74285054 [GRCh38]
Chr17:72281193 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.126G>A (p.Val42=) single nucleotide variant Primary ciliary dyskinesia [RCV001402235] Chr17:74281943 [GRCh38]
Chr17:72278082 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1212-9C>T single nucleotide variant Primary ciliary dyskinesia [RCV001446482] Chr17:74309244 [GRCh38]
Chr17:72305383 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.144C>T (p.Asp48=) single nucleotide variant Primary ciliary dyskinesia [RCV001446798] Chr17:74281961 [GRCh38]
Chr17:72278100 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1494+7A>G single nucleotide variant Primary ciliary dyskinesia [RCV001446714] Chr17:74310170 [GRCh38]
Chr17:72306309 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.87C>T (p.Ile29=) single nucleotide variant Primary ciliary dyskinesia [RCV001417378] Chr17:74281904 [GRCh38]
Chr17:72278043 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1782A>G (p.Glu594=) single nucleotide variant Primary ciliary dyskinesia [RCV001426911] Chr17:74314180 [GRCh38]
Chr17:72310319 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.865-81C>T single nucleotide variant Primary ciliary dyskinesia 9 [RCV001542923]|not provided [RCV001598691] Chr17:74300965 [GRCh38]
Chr17:72297104 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.849T>C (p.Ala283=) single nucleotide variant Primary ciliary dyskinesia [RCV001393107] Chr17:74299842 [GRCh38]
Chr17:72295981 [GRCh37]
Chr17:17q25.1		 likely benign
NC_000017.10:g.(?_72283106)_(72283247_?)del deletion Primary ciliary dyskinesia [RCV001384015] Chr17:72283106..72283247 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.810C>A (p.Ile270=) single nucleotide variant Primary ciliary dyskinesia [RCV001431637] Chr17:74299803 [GRCh38]
Chr17:72295942 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.989C>T (p.Pro330Leu) single nucleotide variant Primary ciliary dyskinesia [RCV001424170] Chr17:74305220 [GRCh38]
Chr17:72301359 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1212-6C>T single nucleotide variant Primary ciliary dyskinesia [RCV001429532] Chr17:74309247 [GRCh38]
Chr17:72305386 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1644C>G (p.Ala548=) single nucleotide variant Primary ciliary dyskinesia [RCV001432130] Chr17:74312152 [GRCh38]
Chr17:72308291 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1299T>C (p.Asp433=) single nucleotide variant Primary ciliary dyskinesia [RCV001445631] Chr17:74309340 [GRCh38]
Chr17:72305479 [GRCh37]
Chr17:17q25.1		 likely benign
NC_000017.10:g.(?_72277936)_(72281350_?)del deletion Primary ciliary dyskinesia [RCV001389128] Chr17:72277936..72281350 [GRCh37]
Chr17:17q25.1		 pathogenic
NC_000017.10:g.(?_72285723)_(72287282_?)del deletion Primary ciliary dyskinesia [RCV001389129] Chr17:72285723..72287282 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1071G>C (p.Val357=) single nucleotide variant Primary ciliary dyskinesia [RCV001435661] Chr17:74305302 [GRCh38]
Chr17:72301441 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.957G>A (p.Gly319=) single nucleotide variant Primary ciliary dyskinesia [RCV001454031] Chr17:74301138 [GRCh38]
Chr17:72297277 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.159C>T (p.Cys53=) single nucleotide variant Primary ciliary dyskinesia [RCV001501723] Chr17:74281976 [GRCh38]
Chr17:72278115 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.345+219A>G single nucleotide variant not provided [RCV001619272] Chr17:74285420 [GRCh38]
Chr17:72281559 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.147G>A (p.Thr49=) single nucleotide variant Primary ciliary dyskinesia [RCV001458523] Chr17:74281964 [GRCh38]
Chr17:72278103 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.725-6C>G single nucleotide variant Primary ciliary dyskinesia [RCV001474010] Chr17:74299712 [GRCh38]
Chr17:72295851 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.147G>T (p.Thr49=) single nucleotide variant Primary ciliary dyskinesia [RCV001491349] Chr17:74281964 [GRCh38]
Chr17:72278103 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.468-60dup duplication not provided [RCV001713500] Chr17:74289520..74289521 [GRCh38]
Chr17:72285659..72285660 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.408C>T (p.Asp136=) single nucleotide variant Primary ciliary dyskinesia [RCV001462532] Chr17:74287039 [GRCh38]
Chr17:72283178 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1530G>A (p.Leu510=) single nucleotide variant Primary ciliary dyskinesia [RCV001510306] Chr17:74312038 [GRCh38]
Chr17:72308177 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1338C>G (p.Leu446=) single nucleotide variant Primary ciliary dyskinesia [RCV001459206] Chr17:74309379 [GRCh38]
Chr17:72305518 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1650G>A (p.Glu550=) single nucleotide variant Primary ciliary dyskinesia [RCV001455559] Chr17:74312158 [GRCh38]
Chr17:72308297 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.738C>T (p.Thr246=) single nucleotide variant Primary ciliary dyskinesia [RCV001469681] Chr17:74299731 [GRCh38]
Chr17:72295870 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.611-332AG[2] microsatellite not provided [RCV001617358] Chr17:74290688..74290689 [GRCh38]
Chr17:72286827..72286828 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.75C>T (p.Ala25=) single nucleotide variant Primary ciliary dyskinesia [RCV001497175] Chr17:74281892 [GRCh38]
Chr17:72278031 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.147G>C (p.Thr49=) single nucleotide variant Primary ciliary dyskinesia [RCV001497277] Chr17:74281964 [GRCh38]
Chr17:72278103 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.468-7C>T single nucleotide variant Primary ciliary dyskinesia [RCV001455827] Chr17:74289587 [GRCh38]
Chr17:72285726 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1278C>T (p.Thr426=) single nucleotide variant Primary ciliary dyskinesia [RCV001460761]|not provided [RCV003416349] Chr17:74309319 [GRCh38]
Chr17:72305458 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.924C>A (p.Ile308=) single nucleotide variant Primary ciliary dyskinesia [RCV001498330] Chr17:74301105 [GRCh38]
Chr17:72297244 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.480A>G (p.Glu160=) single nucleotide variant Primary ciliary dyskinesia [RCV001460623] Chr17:74289606 [GRCh38]
Chr17:72285745 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.588C>T (p.Ser196=) single nucleotide variant Primary ciliary dyskinesia [RCV001463921] Chr17:74289714 [GRCh38]
Chr17:72285853 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1368C>T (p.Phe456=) single nucleotide variant Primary ciliary dyskinesia [RCV001461180] Chr17:74310037 [GRCh38]
Chr17:72306176 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.267G>A (p.Glu89=) single nucleotide variant Primary ciliary dyskinesia [RCV001456972] Chr17:74285123 [GRCh38]
Chr17:72281262 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1347+226C>T single nucleotide variant not provided [RCV001614326] Chr17:74309614 [GRCh38]
Chr17:72305753 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1260G>T (p.Pro420=) single nucleotide variant Primary ciliary dyskinesia [RCV001486874] Chr17:74309301 [GRCh38]
Chr17:72305440 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.822G>A (p.Ser274=) single nucleotide variant Primary ciliary dyskinesia [RCV001438014] Chr17:74299815 [GRCh38]
Chr17:72295954 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1357del (p.Glu453fs) deletion Primary ciliary dyskinesia [RCV001390892] Chr17:74310026 [GRCh38]
Chr17:72306165 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1347+8G>A single nucleotide variant Primary ciliary dyskinesia [RCV001442761] Chr17:74309396 [GRCh38]
Chr17:72305535 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.346-4C>T single nucleotide variant Primary ciliary dyskinesia [RCV001502611] Chr17:74286973 [GRCh38]
Chr17:72283112 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1044G>A (p.Lys348=) single nucleotide variant Primary ciliary dyskinesia [RCV001480424] Chr17:74305275 [GRCh38]
Chr17:72301414 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.270G>A (p.Leu90=) single nucleotide variant Primary ciliary dyskinesia [RCV001451991] Chr17:74285126 [GRCh38]
Chr17:72281265 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.184-9T>C single nucleotide variant Primary ciliary dyskinesia [RCV001438637] Chr17:74285031 [GRCh38]
Chr17:72281170 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1167C>A (p.Arg389=) single nucleotide variant Primary ciliary dyskinesia [RCV001415828] Chr17:74305398 [GRCh38]
Chr17:72301537 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.741A>G (p.Arg247=) single nucleotide variant Primary ciliary dyskinesia [RCV001418491] Chr17:74299734 [GRCh38]
Chr17:72295873 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.250del (p.Asp84fs) deletion Primary ciliary dyskinesia [RCV001384248] Chr17:74285105 [GRCh38]
Chr17:72281244 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1365C>T (p.Leu455=) single nucleotide variant Primary ciliary dyskinesia [RCV001398549] Chr17:74310034 [GRCh38]
Chr17:72306173 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.114C>G (p.Ala38=) single nucleotide variant Primary ciliary dyskinesia [RCV001501187] Chr17:74281931 [GRCh38]
Chr17:72278070 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.795T>C (p.Pro265=) single nucleotide variant Primary ciliary dyskinesia [RCV001419260] Chr17:74299788 [GRCh38]
Chr17:72295927 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1212-10C>T single nucleotide variant Primary ciliary dyskinesia [RCV001472304] Chr17:74309243 [GRCh38]
Chr17:72305382 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1575G>A (p.Ala525=) single nucleotide variant Primary ciliary dyskinesia [RCV001418797] Chr17:74312083 [GRCh38]
Chr17:72308222 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1264G>A (p.Val422Ile) single nucleotide variant Primary ciliary dyskinesia [RCV001484152] Chr17:74309305 [GRCh38]
Chr17:72305444 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.978A>G (p.Glu326=) single nucleotide variant Primary ciliary dyskinesia [RCV001436060] Chr17:74301159 [GRCh38]
Chr17:72297298 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.740G>A (p.Arg247Gln) single nucleotide variant Primary ciliary dyskinesia [RCV002539154]|not provided [RCV001755147] Chr17:74299733 [GRCh38]
Chr17:72295872 [GRCh37]
Chr17:17q25.1		 pathogenic|likely pathogenic|uncertain significance
NM_023036.6(DNAI2):c.1212-175_1212-174dup duplication not provided [RCV001753948] Chr17:74309060..74309061 [GRCh38]
Chr17:72305199..72305200 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.988-213C>T single nucleotide variant not provided [RCV001733075] Chr17:74305006 [GRCh38]
Chr17:72301145 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.928A>T (p.Lys310Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001896711] Chr17:74301109 [GRCh38]
Chr17:72297248 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1348-1G>A single nucleotide variant Primary ciliary dyskinesia [RCV002043982] Chr17:74310016 [GRCh38]
Chr17:72306155 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1428del (p.Thr477fs) deletion Primary ciliary dyskinesia [RCV001946835] Chr17:74310096 [GRCh38]
Chr17:72306235 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.609G>A (p.Leu203=) single nucleotide variant Primary ciliary dyskinesia [RCV002044658] Chr17:74289735 [GRCh38]
Chr17:72285874 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.922A>G (p.Ile308Val) single nucleotide variant Primary ciliary dyskinesia [RCV002006743] Chr17:74301103 [GRCh38]
Chr17:72297242 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1348-1G>T single nucleotide variant Primary ciliary dyskinesia [RCV001983404] Chr17:74310016 [GRCh38]
Chr17:72306155 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.246_250del (p.Lys83fs) deletion Primary ciliary dyskinesia [RCV001984747] Chr17:74285102..74285106 [GRCh38]
Chr17:72281241..72281245 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1495-3C>T single nucleotide variant Primary ciliary dyskinesia [RCV001908421] Chr17:74312000 [GRCh38]
Chr17:72308139 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.85A>G (p.Ile29Val) single nucleotide variant Primary ciliary dyskinesia [RCV001985473] Chr17:74281902 [GRCh38]
Chr17:72278041 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:71813960-72707349)x3 copy number gain not provided [RCV001829043] Chr17:71813960..72707349 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.225C>G (p.Asn75Lys) single nucleotide variant Primary ciliary dyskinesia [RCV001895614] Chr17:74285081 [GRCh38]
Chr17:72281220 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1795G>T (p.Glu599Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001949220] Chr17:74314193 [GRCh38]
Chr17:72310332 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.895del (p.Glu299fs) deletion Primary ciliary dyskinesia [RCV001891115] Chr17:74301076 [GRCh38]
Chr17:72297215 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.738C>A (p.Thr246=) single nucleotide variant Primary ciliary dyskinesia [RCV002006253] Chr17:74299731 [GRCh38]
Chr17:72295870 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.787C>G (p.Arg263Gly) single nucleotide variant Primary ciliary dyskinesia 9 [RCV002492300]|Primary ciliary dyskinesia [RCV002019254] Chr17:74299780 [GRCh38]
Chr17:72295919 [GRCh37]
Chr17:17q25.1		 uncertain significance
NC_000017.10:g.(?_72295847)_(72296006_?)del deletion Primary ciliary dyskinesia [RCV001953426] Chr17:72295847..72296006 [GRCh37]
Chr17:17q25.1		 pathogenic
NC_000017.10:g.(?_72281159)_(72283257_?)dup duplication Primary ciliary dyskinesia [RCV002031614] Chr17:72281159..72283257 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1407C>A (p.Cys469Ter) single nucleotide variant Primary ciliary dyskinesia 9 [RCV003989732]|Primary ciliary dyskinesia [RCV001937715] Chr17:74310076 [GRCh38]
Chr17:72306215 [GRCh37]
Chr17:17q25.1		 pathogenic|uncertain significance
NM_023036.6(DNAI2):c.380T>C (p.Ile127Thr) single nucleotide variant Primary ciliary dyskinesia [RCV001996866] Chr17:74287011 [GRCh38]
Chr17:72283150 [GRCh37]
Chr17:17q25.1		 uncertain significance
NC_000017.10:g.(?_72305382)_(72306312_?)del deletion Primary ciliary dyskinesia [RCV001972471] Chr17:72305382..72306312 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1260_1293del (p.Thr421fs) deletion Primary ciliary dyskinesia [RCV002037644] Chr17:74309299..74309332 [GRCh38]
Chr17:72305438..72305471 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.900_905del (p.Thr301_Glu302del) deletion Primary ciliary dyskinesia [RCV002047133] Chr17:74301081..74301086 [GRCh38]
Chr17:72297220..72297225 [GRCh37]
Chr17:17q25.1		 uncertain significance
NC_000017.10:g.(?_72283110)_(72283243_?)dup duplication Primary ciliary dyskinesia [RCV002031607] Chr17:72283110..72283243 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1347+1G>T single nucleotide variant Primary ciliary dyskinesia [RCV002013322] Chr17:74309389 [GRCh38]
Chr17:72305528 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.865-1G>C single nucleotide variant Primary ciliary dyskinesia [RCV002048662] Chr17:74301045 [GRCh38]
Chr17:72297184 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NC_000017.10:g.(?_72295847)_(72309109_?)dup duplication Primary ciliary dyskinesia [RCV002049120] Chr17:72295847..72309109 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1211+2_1211+5del deletion Primary ciliary dyskinesia [RCV002029263] Chr17:74305441..74305444 [GRCh38]
Chr17:72301580..72301583 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NC_000017.10:g.(?_72295837)_(72297327_?)del deletion Primary ciliary dyskinesia [RCV001975181] Chr17:72295837..72297327 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1517G>A (p.Arg506Gln) single nucleotide variant Primary ciliary dyskinesia [RCV002046981] Chr17:74312025 [GRCh38]
Chr17:72308164 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.184-15C>A single nucleotide variant Primary ciliary dyskinesia [RCV001934014] Chr17:74285025 [GRCh38]
Chr17:72281164 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1375del (p.Arg459fs) deletion Primary ciliary dyskinesia [RCV001951047] Chr17:74310043 [GRCh38]
Chr17:72306182 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1494+1G>T single nucleotide variant Primary ciliary dyskinesia [RCV001960164] Chr17:74310164 [GRCh38]
Chr17:72306303 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.120G>T (p.Gln40His) single nucleotide variant Primary ciliary dyskinesia [RCV001880802] Chr17:74281937 [GRCh38]
Chr17:72278076 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1567G>T (p.Gly523Cys) single nucleotide variant Primary ciliary dyskinesia [RCV001882377] Chr17:74312075 [GRCh38]
Chr17:72308214 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1804G>A (p.Glu602Lys) single nucleotide variant Primary ciliary dyskinesia [RCV002028988] Chr17:74314202 [GRCh38]
Chr17:72310341 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1348-6C>T single nucleotide variant Primary ciliary dyskinesia [RCV001953803] Chr17:74310011 [GRCh38]
Chr17:72306150 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1375C>T (p.Arg459Trp) single nucleotide variant Primary ciliary dyskinesia [RCV001880589] Chr17:74310044 [GRCh38]
Chr17:72306183 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=) single nucleotide variant Primary ciliary dyskinesia [RCV002033913] Chr17:74310163 [GRCh38]
Chr17:72306302 [GRCh37]
Chr17:17q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.1790del (p.Asp597fs) deletion Primary ciliary dyskinesia [RCV001953410] Chr17:74314188 [GRCh38]
Chr17:72310327 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.865-10C>T single nucleotide variant Primary ciliary dyskinesia [RCV002147051] Chr17:74301036 [GRCh38]
Chr17:72297175 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.467+9A>G single nucleotide variant Primary ciliary dyskinesia [RCV002210256] Chr17:74287107 [GRCh38]
Chr17:72283246 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.725-6C>A single nucleotide variant Primary ciliary dyskinesia [RCV002091053] Chr17:74299712 [GRCh38]
Chr17:72295851 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.702T>C (p.Gly234=) single nucleotide variant Primary ciliary dyskinesia [RCV002207906] Chr17:74291111 [GRCh38]
Chr17:72287250 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.63G>C (p.Ser21=) single nucleotide variant Primary ciliary dyskinesia [RCV002074709] Chr17:74281880 [GRCh38]
Chr17:72278019 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.543A>T (p.Ala181=) single nucleotide variant Primary ciliary dyskinesia [RCV002085984] Chr17:74289669 [GRCh38]
Chr17:72285808 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1495-10G>C single nucleotide variant Primary ciliary dyskinesia [RCV002092472] Chr17:74311993 [GRCh38]
Chr17:72308132 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1263C>A (p.Thr421=) single nucleotide variant Primary ciliary dyskinesia [RCV002145893] Chr17:74309304 [GRCh38]
Chr17:72305443 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1723-4G>A single nucleotide variant Primary ciliary dyskinesia [RCV002189671] Chr17:74314117 [GRCh38]
Chr17:72310256 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.69C>T (p.Arg23=) single nucleotide variant Primary ciliary dyskinesia [RCV002210326] Chr17:74281886 [GRCh38]
Chr17:72278025 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.724+24del deletion Primary ciliary dyskinesia [RCV002071037] Chr17:74291152 [GRCh38]
Chr17:72287291 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1125C>T (p.Phe375=) single nucleotide variant Primary ciliary dyskinesia [RCV002126605] Chr17:74305356 [GRCh38]
Chr17:72301495 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1491T>C (p.Ser497=) single nucleotide variant Primary ciliary dyskinesia [RCV002108022] Chr17:74310160 [GRCh38]
Chr17:72306299 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.611-13T>C single nucleotide variant Primary ciliary dyskinesia [RCV002073706] Chr17:74291007 [GRCh38]
Chr17:72287146 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1212-17T>C single nucleotide variant Primary ciliary dyskinesia [RCV002106106] Chr17:74309236 [GRCh38]
Chr17:72305375 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.346-9C>T single nucleotide variant Primary ciliary dyskinesia [RCV002166699] Chr17:74286968 [GRCh38]
Chr17:72283107 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1482C>T (p.Asn494=) single nucleotide variant Primary ciliary dyskinesia [RCV002207404] Chr17:74310151 [GRCh38]
Chr17:72306290 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1074C>T (p.Cys358=) single nucleotide variant Primary ciliary dyskinesia [RCV002189361] Chr17:74305305 [GRCh38]
Chr17:72301444 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.678C>T (p.Pro226=) single nucleotide variant Primary ciliary dyskinesia [RCV002128581] Chr17:74291087 [GRCh38]
Chr17:72287226 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.988-10C>T single nucleotide variant Primary ciliary dyskinesia [RCV002129235] Chr17:74305209 [GRCh38]
Chr17:72301348 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.610+10A>G single nucleotide variant Primary ciliary dyskinesia [RCV002148532] Chr17:74289746 [GRCh38]
Chr17:72285885 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.610+13G>A single nucleotide variant Primary ciliary dyskinesia [RCV002112243] Chr17:74289749 [GRCh38]
Chr17:72285888 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.27G>A (p.Lys9=) single nucleotide variant Primary ciliary dyskinesia [RCV002167847] Chr17:74281844 [GRCh38]
Chr17:72277983 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.814C>T (p.Leu272=) single nucleotide variant Primary ciliary dyskinesia [RCV002080691] Chr17:74299807 [GRCh38]
Chr17:72295946 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1446G>A (p.Ser482=) single nucleotide variant Primary ciliary dyskinesia [RCV002117447] Chr17:74310115 [GRCh38]
Chr17:72306254 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.18G>A (p.Val6=) single nucleotide variant Primary ciliary dyskinesia [RCV002168750] Chr17:74281835 [GRCh38]
Chr17:72277974 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1350G>T (p.Val450=) single nucleotide variant Primary ciliary dyskinesia [RCV002153073] Chr17:74310019 [GRCh38]
Chr17:72306158 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.498A>G (p.Thr166=) single nucleotide variant Primary ciliary dyskinesia [RCV002116685] Chr17:74289624 [GRCh38]
Chr17:72285763 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1722+8C>A single nucleotide variant Primary ciliary dyskinesia [RCV002126567] Chr17:74312238 [GRCh38]
Chr17:72308377 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.411G>A (p.Glu137=) single nucleotide variant Primary ciliary dyskinesia [RCV002096465] Chr17:74287042 [GRCh38]
Chr17:72283181 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1186C>A (p.Arg396=) single nucleotide variant Primary ciliary dyskinesia [RCV002195393] Chr17:74305417 [GRCh38]
Chr17:72301556 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.865-15C>T single nucleotide variant Primary ciliary dyskinesia [RCV002215759] Chr17:74301031 [GRCh38]
Chr17:72297170 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1347+6_1347+7delinsTT indel Primary ciliary dyskinesia [RCV002078899] Chr17:74309394..74309395 [GRCh38]
Chr17:72305533..72305534 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1128C>T (p.Tyr376=) single nucleotide variant Primary ciliary dyskinesia [RCV002095500] Chr17:74305359 [GRCh38]
Chr17:72301498 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1347+8G>C single nucleotide variant Primary ciliary dyskinesia [RCV002114742] Chr17:74309396 [GRCh38]
Chr17:72305535 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.279C>T (p.Thr93=) single nucleotide variant Primary ciliary dyskinesia [RCV002213853] Chr17:74285135 [GRCh38]
Chr17:72281274 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1788G>C (p.Gly596=) single nucleotide variant Primary ciliary dyskinesia [RCV002170899] Chr17:74314186 [GRCh38]
Chr17:72310325 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.444A>G (p.Ser148=) single nucleotide variant Primary ciliary dyskinesia [RCV002196124] Chr17:74287075 [GRCh38]
Chr17:72283214 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1437G>A (p.Leu479=) single nucleotide variant Primary ciliary dyskinesia [RCV002151179] Chr17:74310106 [GRCh38]
Chr17:72306245 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.865-11C>T single nucleotide variant Primary ciliary dyskinesia [RCV002193109] Chr17:74301035 [GRCh38]
Chr17:72297174 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1026C>G (p.Val342=) single nucleotide variant Primary ciliary dyskinesia [RCV002128444] Chr17:74305257 [GRCh38]
Chr17:72301396 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1794A>G (p.Glu598=) single nucleotide variant Primary ciliary dyskinesia [RCV002094339] Chr17:74314192 [GRCh38]
Chr17:72310331 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1512C>T (p.Thr504=) single nucleotide variant Primary ciliary dyskinesia [RCV002157709] Chr17:74312020 [GRCh38]
Chr17:72308159 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.15C>T (p.Tyr5=) single nucleotide variant Primary ciliary dyskinesia [RCV002179379] Chr17:74281832 [GRCh38]
Chr17:72277971 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.346-5C>T single nucleotide variant Primary ciliary dyskinesia [RCV002100920] Chr17:74286972 [GRCh38]
Chr17:72283111 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1362C>T (p.Ala454=) single nucleotide variant Primary ciliary dyskinesia [RCV002136409] Chr17:74310031 [GRCh38]
Chr17:72306170 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1347+7C>G single nucleotide variant Primary ciliary dyskinesia [RCV002180263] Chr17:74309395 [GRCh38]
Chr17:72305534 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.33C>T (p.Arg11=) single nucleotide variant Primary ciliary dyskinesia [RCV002202035] Chr17:74281850 [GRCh38]
Chr17:72277989 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1671C>T (p.Phe557=) single nucleotide variant Primary ciliary dyskinesia [RCV002204054] Chr17:74312179 [GRCh38]
Chr17:72308318 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1347+13T>G single nucleotide variant Primary ciliary dyskinesia [RCV002118120] Chr17:74309401 [GRCh38]
Chr17:72305540 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.1140C>T (p.Phe380=) single nucleotide variant Primary ciliary dyskinesia [RCV002141971] Chr17:74305371 [GRCh38]
Chr17:72301510 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1723-13T>C single nucleotide variant Primary ciliary dyskinesia [RCV002120431] Chr17:74314108 [GRCh38]
Chr17:72310247 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1596G>A (p.Gln532=) single nucleotide variant Primary ciliary dyskinesia [RCV002180082] Chr17:74312104 [GRCh38]
Chr17:72308243 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1263C>G (p.Thr421=) single nucleotide variant Primary ciliary dyskinesia [RCV002162805] Chr17:74309304 [GRCh38]
Chr17:72305443 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.975C>T (p.Phe325=) single nucleotide variant Primary ciliary dyskinesia [RCV002142597] Chr17:74301156 [GRCh38]
Chr17:72297295 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1452G>C (p.Gly484=) single nucleotide variant Primary ciliary dyskinesia [RCV002082779] Chr17:74310121 [GRCh38]
Chr17:72306260 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.528G>A (p.Arg176=) single nucleotide variant Primary ciliary dyskinesia [RCV002103655] Chr17:74289654 [GRCh38]
Chr17:72285793 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.900C>T (p.Pro300=) single nucleotide variant Primary ciliary dyskinesia [RCV002098620] Chr17:74301081 [GRCh38]
Chr17:72297220 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1806A>G (p.Glu602=) single nucleotide variant Primary ciliary dyskinesia [RCV002219272] Chr17:74314204 [GRCh38]
Chr17:72310343 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1632G>A (p.Leu544=) single nucleotide variant Primary ciliary dyskinesia [RCV002141150] Chr17:74312140 [GRCh38]
Chr17:72308279 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.865-15C>G single nucleotide variant Primary ciliary dyskinesia [RCV002203686] Chr17:74301031 [GRCh38]
Chr17:72297170 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.57T>C (p.Asn19=) single nucleotide variant Primary ciliary dyskinesia [RCV002159425] Chr17:74281874 [GRCh38]
Chr17:72278013 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1557G>A (p.Leu519=) single nucleotide variant Primary ciliary dyskinesia [RCV002157862] Chr17:74312065 [GRCh38]
Chr17:72308204 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.196C>A (p.Arg66=) single nucleotide variant Primary ciliary dyskinesia [RCV002119901] Chr17:74285052 [GRCh38]
Chr17:72281191 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.378C>T (p.Ala126=) single nucleotide variant Primary ciliary dyskinesia [RCV002118565] Chr17:74287009 [GRCh38]
Chr17:72283148 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.611-7T>G single nucleotide variant Primary ciliary dyskinesia [RCV002198869] Chr17:74291013 [GRCh38]
Chr17:72287152 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.342C>T (p.Gly114=) single nucleotide variant Primary ciliary dyskinesia [RCV002178531] Chr17:74285198 [GRCh38]
Chr17:72281337 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1293C>A (p.Thr431=) single nucleotide variant Primary ciliary dyskinesia [RCV002142765] Chr17:74309334 [GRCh38]
Chr17:72305473 [GRCh37]
Chr17:17q25.1		 likely benign
NC_000017.10:g.(?_72277957)_(72310355_?)dup duplication Primary ciliary dyskinesia [RCV003111521] Chr17:72277957..72310355 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1211+10G>A single nucleotide variant Primary ciliary dyskinesia [RCV003114778] Chr17:74305452 [GRCh38]
Chr17:72301591 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.345+20C>T single nucleotide variant Primary ciliary dyskinesia [RCV003121388] Chr17:74285221 [GRCh38]
Chr17:72281360 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.527_529delinsTAGTGAGACTTCATTTCTACACTTTTTTTTTAATTACCC (p.Arg176_Lys177delinsIleValArgLeuHisPheTyrThrPhePheLeuIleThrGln) indel Primary ciliary dyskinesia [RCV003096209]|not provided [RCV002276050] Chr17:74289653..74289655 [GRCh38]
Chr17:72285792..72285794 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1212-193C>A single nucleotide variant not provided [RCV002286072] Chr17:74309060 [GRCh38]
Chr17:72305199 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.337C>T (p.Leu113Phe) single nucleotide variant Primary ciliary dyskinesia [RCV002451813] Chr17:74285193 [GRCh38]
Chr17:72281332 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.618CAA[1] (p.Asn207del) microsatellite Primary ciliary dyskinesia [RCV002366472] Chr17:74291027..74291029 [GRCh38]
Chr17:72287166..72287168 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.-11-201G>C single nucleotide variant not provided [RCV002285852] Chr17:74281606 [GRCh38]
Chr17:72277745 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.973T>A (p.Phe325Ile) single nucleotide variant Primary ciliary dyskinesia [RCV002387079] Chr17:74301154 [GRCh38]
Chr17:72297293 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1193C>T (p.Ser398Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002351521] Chr17:74305424 [GRCh38]
Chr17:72301563 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.130C>T (p.Arg44Trp) single nucleotide variant Primary ciliary dyskinesia [RCV002385402] Chr17:74281947 [GRCh38]
Chr17:72278086 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.32G>A (p.Arg11His) single nucleotide variant Primary ciliary dyskinesia [RCV002454683] Chr17:74281849 [GRCh38]
Chr17:72277988 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.793C>T (p.Pro265Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002416816] Chr17:74299786 [GRCh38]
Chr17:72295925 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.648G>A (p.Ser216=) single nucleotide variant DNAI2-related disorder [RCV003926379]|Primary ciliary dyskinesia [RCV002356241] Chr17:74291057 [GRCh38]
Chr17:72287196 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.12G>T (p.Val4=) single nucleotide variant Primary ciliary dyskinesia [RCV002380813] Chr17:74281829 [GRCh38]
Chr17:72277968 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1122del (p.Phe375fs) deletion Primary ciliary dyskinesia [RCV002442006] Chr17:74305350 [GRCh38]
Chr17:72301489 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1213T>A (p.Tyr405Asn) single nucleotide variant Primary ciliary dyskinesia [RCV002358010] Chr17:74309254 [GRCh38]
Chr17:72305393 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.579C>T (p.Gly193=) single nucleotide variant Primary ciliary dyskinesia [RCV002359808] Chr17:74289705 [GRCh38]
Chr17:72285844 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1309T>C (p.Phe437Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002381042] Chr17:74309350 [GRCh38]
Chr17:72305489 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.253G>A (p.Val85Met) single nucleotide variant Primary ciliary dyskinesia [RCV002455772] Chr17:74285109 [GRCh38]
Chr17:72281248 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.712A>G (p.Asn238Asp) single nucleotide variant Primary ciliary dyskinesia [RCV002378335] Chr17:74291121 [GRCh38]
Chr17:72287260 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1700C>A (p.Ala567Asp) single nucleotide variant Primary ciliary dyskinesia [RCV002301345] Chr17:74312208 [GRCh38]
Chr17:72308347 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.884G>A (p.Arg295Gln) single nucleotide variant Primary ciliary dyskinesia [RCV002449827] Chr17:74301065 [GRCh38]
Chr17:72297204 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1553G>A (p.Arg518Gln) single nucleotide variant Primary ciliary dyskinesia [RCV002392596] Chr17:74312061 [GRCh38]
Chr17:72308200 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.336G>T (p.Gln112His) single nucleotide variant Primary ciliary dyskinesia [RCV002451730] Chr17:74285192 [GRCh38]
Chr17:72281331 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.215G>T (p.Arg72Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002432577] Chr17:74285071 [GRCh38]
Chr17:72281210 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.705C>T (p.Gly235=) single nucleotide variant Primary ciliary dyskinesia [RCV002365016] Chr17:74291114 [GRCh38]
Chr17:72287253 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1368C>A (p.Phe456Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002383622] Chr17:74310037 [GRCh38]
Chr17:72306176 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.404A>G (p.Asn135Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002321257] Chr17:74287035 [GRCh38]
Chr17:72283174 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1095C>G (p.Gly365=) single nucleotide variant Primary ciliary dyskinesia [RCV002457823] Chr17:74305326 [GRCh38]
Chr17:72301465 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.173C>T (p.Ser58Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002401379] Chr17:74281990 [GRCh38]
Chr17:72278129 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1096C>G (p.Pro366Ala) single nucleotide variant Primary ciliary dyskinesia [RCV002450230] Chr17:74305327 [GRCh38]
Chr17:72301466 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1212-2A>C single nucleotide variant Primary ciliary dyskinesia [RCV002355874] Chr17:74309251 [GRCh38]
Chr17:72305390 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.523A>C (p.Asn175His) single nucleotide variant Primary ciliary dyskinesia [RCV002340883] Chr17:74289649 [GRCh38]
Chr17:72285788 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1419G>A (p.Leu473=) single nucleotide variant Primary ciliary dyskinesia [RCV002391764] Chr17:74310088 [GRCh38]
Chr17:72306227 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.704G>T (p.Gly235Val) single nucleotide variant Primary ciliary dyskinesia [RCV002364973] Chr17:74291113 [GRCh38]
Chr17:72287252 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1069G>A (p.Val357Met) single nucleotide variant Primary ciliary dyskinesia [RCV002410802] Chr17:74305300 [GRCh38]
Chr17:72301439 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.611-5T>G single nucleotide variant Primary ciliary dyskinesia [RCV002360245] Chr17:74291015 [GRCh38]
Chr17:72287154 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.477G>A (p.Gln159=) single nucleotide variant Primary ciliary dyskinesia [RCV002330682] Chr17:74289603 [GRCh38]
Chr17:72285742 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1348-3T>C single nucleotide variant Primary ciliary dyskinesia [RCV002387864] Chr17:74310014 [GRCh38]
Chr17:72306153 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1743A>C (p.Glu581Asp) single nucleotide variant Primary ciliary dyskinesia [RCV002407493] Chr17:74314141 [GRCh38]
Chr17:72310280 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.474C>T (p.Pro158=) single nucleotide variant Primary ciliary dyskinesia [RCV002774806] Chr17:74289600 [GRCh38]
Chr17:72285739 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.225C>T (p.Asn75=) single nucleotide variant Primary ciliary dyskinesia [RCV002863382] Chr17:74285081 [GRCh38]
Chr17:72281220 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.724+20TTTTTA[4] microsatellite Primary ciliary dyskinesia [RCV002971707] Chr17:74291152..74291153 [GRCh38]
Chr17:72287291..72287292 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1495-12C>G single nucleotide variant Primary ciliary dyskinesia [RCV002903127] Chr17:74311991 [GRCh38]
Chr17:72308130 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1497G>A (p.Met499Ile) single nucleotide variant Primary ciliary dyskinesia [RCV004156278] Chr17:74312005 [GRCh38]
Chr17:72308144 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.467+7C>A single nucleotide variant Primary ciliary dyskinesia [RCV003075123] Chr17:74287105 [GRCh38]
Chr17:72283244 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1288G>A (p.Gly430Arg) single nucleotide variant Primary ciliary dyskinesia [RCV003077091]|not specified [RCV004700926] Chr17:74309329 [GRCh38]
Chr17:72305468 [GRCh37]
Chr17:17q25.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_023036.6(DNAI2):c.1458T>C (p.Ser486=) single nucleotide variant Primary ciliary dyskinesia [RCV002726689] Chr17:74310127 [GRCh38]
Chr17:72306266 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.346-9C>G single nucleotide variant Primary ciliary dyskinesia [RCV002756393] Chr17:74286968 [GRCh38]
Chr17:72283107 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.614del (p.Asn205fs) deletion Primary ciliary dyskinesia [RCV002819899] Chr17:74291020 [GRCh38]
Chr17:72287159 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.725-5A>T single nucleotide variant Primary ciliary dyskinesia [RCV002615992] Chr17:74299713 [GRCh38]
Chr17:72295852 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.36C>T (p.Ser12=) single nucleotide variant Primary ciliary dyskinesia [RCV002975013] Chr17:74281853 [GRCh38]
Chr17:72277992 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1599C>G (p.Thr533=) single nucleotide variant Primary ciliary dyskinesia [RCV002775305] Chr17:74312107 [GRCh38]
Chr17:72308246 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1762G>A (p.Gly588Arg) single nucleotide variant Primary ciliary dyskinesia [RCV002771436] Chr17:74314160 [GRCh38]
Chr17:72310299 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.103C>G (p.Pro35Ala) single nucleotide variant Primary ciliary dyskinesia [RCV002775825] Chr17:74281920 [GRCh38]
Chr17:72278059 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1012G>A (p.Glu338Lys) single nucleotide variant Primary ciliary dyskinesia [RCV004139231] Chr17:74305243 [GRCh38]
Chr17:72301382 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.725-9C>T single nucleotide variant Primary ciliary dyskinesia [RCV002994806] Chr17:74299709 [GRCh38]
Chr17:72295848 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.183+14C>T single nucleotide variant Primary ciliary dyskinesia [RCV002730918] Chr17:74282014 [GRCh38]
Chr17:72278153 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1263C>T (p.Thr421=) single nucleotide variant Primary ciliary dyskinesia [RCV002908023] Chr17:74309304 [GRCh38]
Chr17:72305443 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.840C>T (p.Cys280=) single nucleotide variant Primary ciliary dyskinesia [RCV003074346] Chr17:74299833 [GRCh38]
Chr17:72295972 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.369G>A (p.Gln123=) single nucleotide variant Primary ciliary dyskinesia [RCV002819447] Chr17:74287000 [GRCh38]
Chr17:72283139 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.865-5A>T single nucleotide variant Primary ciliary dyskinesia [RCV002908459] Chr17:74301041 [GRCh38]
Chr17:72297180 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.987+17G>T single nucleotide variant Primary ciliary dyskinesia [RCV002995417] Chr17:74301185 [GRCh38]
Chr17:72297324 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.447T>C (p.Ala149=) single nucleotide variant Primary ciliary dyskinesia [RCV002881831] Chr17:74287078 [GRCh38]
Chr17:72283217 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1737A>G (p.Pro579=) single nucleotide variant Primary ciliary dyskinesia [RCV002726830] Chr17:74314135 [GRCh38]
Chr17:72310274 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.801T>C (p.Tyr267=) single nucleotide variant Primary ciliary dyskinesia [RCV002871292] Chr17:74299794 [GRCh38]
Chr17:72295933 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1637del (p.Ser546fs) deletion Primary ciliary dyskinesia [RCV002690842] Chr17:74312145 [GRCh38]
Chr17:72308284 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1376G>A (p.Arg459Gln) single nucleotide variant Primary ciliary dyskinesia [RCV002923610] Chr17:74310045 [GRCh38]
Chr17:72306184 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.95T>A (p.Met32Lys) single nucleotide variant Primary ciliary dyskinesia [RCV003081527] Chr17:74281912 [GRCh38]
Chr17:72278051 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.502C>T (p.Leu168Phe) single nucleotide variant Primary ciliary dyskinesia [RCV002889316] Chr17:74289628 [GRCh38]
Chr17:72285767 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1494+18G>A single nucleotide variant Primary ciliary dyskinesia [RCV003081258] Chr17:74310181 [GRCh38]
Chr17:72306320 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.33C>A (p.Arg11=) single nucleotide variant Primary ciliary dyskinesia [RCV002913652] Chr17:74281850 [GRCh38]
Chr17:72277989 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.474C>A (p.Pro158=) single nucleotide variant Primary ciliary dyskinesia [RCV002976267] Chr17:74289600 [GRCh38]
Chr17:72285739 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.468-5T>C single nucleotide variant Primary ciliary dyskinesia [RCV002638421] Chr17:74289589 [GRCh38]
Chr17:72285728 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.50A>C (p.Gln17Pro) single nucleotide variant Primary ciliary dyskinesia [RCV002949036] Chr17:74281867 [GRCh38]
Chr17:72278006 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1259C>T (p.Pro420Leu) single nucleotide variant Primary ciliary dyskinesia [RCV002620492] Chr17:74309300 [GRCh38]
Chr17:72305439 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.197G>A (p.Arg66Gln) single nucleotide variant Primary ciliary dyskinesia [RCV002885615] Chr17:74285053 [GRCh38]
Chr17:72281192 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1645GAG[2] (p.Glu551del) microsatellite Primary ciliary dyskinesia [RCV003053291] Chr17:74312153..74312155 [GRCh38]
Chr17:72308292..72308294 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.120G>A (p.Gln40=) single nucleotide variant Primary ciliary dyskinesia [RCV002695249] Chr17:74281937 [GRCh38]
Chr17:72278076 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.611-6T>G single nucleotide variant Primary ciliary dyskinesia [RCV003021219] Chr17:74291014 [GRCh38]
Chr17:72287153 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1173G>A (p.Trp391Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003054727] Chr17:74305404 [GRCh38]
Chr17:72301543 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.486G>A (p.Lys162=) single nucleotide variant Primary ciliary dyskinesia [RCV002659031] Chr17:74289612 [GRCh38]
Chr17:72285751 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1052C>T (p.Thr351Met) single nucleotide variant Primary ciliary dyskinesia [RCV002913087]|not provided [RCV004763474] Chr17:74305283 [GRCh38]
Chr17:72301422 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.165C>T (p.Ile55=) single nucleotide variant Primary ciliary dyskinesia [RCV003080308] Chr17:74281982 [GRCh38]
Chr17:72278121 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1552C>A (p.Arg518=) single nucleotide variant Primary ciliary dyskinesia [RCV002785482] Chr17:74312060 [GRCh38]
Chr17:72308199 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.354G>A (p.Glu118=) single nucleotide variant Primary ciliary dyskinesia [RCV002867034] Chr17:74286985 [GRCh38]
Chr17:72283124 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.344C>A (p.Ser115Tyr) single nucleotide variant Primary ciliary dyskinesia [RCV003018841] Chr17:74285200 [GRCh38]
Chr17:72281339 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.939G>A (p.Gln313=) single nucleotide variant Primary ciliary dyskinesia [RCV002847215] Chr17:74301120 [GRCh38]
Chr17:72297259 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1309T>A (p.Phe437Ile) single nucleotide variant Primary ciliary dyskinesia [RCV003079259] Chr17:74309350 [GRCh38]
Chr17:72305489 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1494+10G>A single nucleotide variant Primary ciliary dyskinesia [RCV002953285] Chr17:74310173 [GRCh38]
Chr17:72306312 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.594A>G (p.Ser198=) single nucleotide variant Primary ciliary dyskinesia [RCV002867695] Chr17:74289720 [GRCh38]
Chr17:72285859 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1599C>A (p.Thr533=) single nucleotide variant Primary ciliary dyskinesia [RCV002756819] Chr17:74312107 [GRCh38]
Chr17:72308246 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.410A>C (p.Glu137Ala) single nucleotide variant Primary ciliary dyskinesia [RCV002575452] Chr17:74287041 [GRCh38]
Chr17:72283180 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.875G>A (p.Trp292Ter) single nucleotide variant Primary ciliary dyskinesia [RCV002876644] Chr17:74301056 [GRCh38]
Chr17:72297195 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1007G>A (p.Gly336Glu) single nucleotide variant Primary ciliary dyskinesia [RCV004127161] Chr17:74305238 [GRCh38]
Chr17:72301377 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.645A>G (p.Pro215=) single nucleotide variant Primary ciliary dyskinesia [RCV002575453] Chr17:74291054 [GRCh38]
Chr17:72287193 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.170T>C (p.Met57Thr) single nucleotide variant Primary ciliary dyskinesia [RCV002805462] Chr17:74281987 [GRCh38]
Chr17:72278126 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.690C>T (p.His230=) single nucleotide variant Primary ciliary dyskinesia [RCV002596910] Chr17:74291099 [GRCh38]
Chr17:72287238 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1722+10T>C single nucleotide variant Primary ciliary dyskinesia [RCV002574977] Chr17:74312240 [GRCh38]
Chr17:72308379 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.132del (p.Asn45fs) deletion Primary ciliary dyskinesia [RCV003083103] Chr17:74281948 [GRCh38]
Chr17:72278087 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.781A>G (p.Ser261Gly) single nucleotide variant Primary ciliary dyskinesia [RCV002623397] Chr17:74299774 [GRCh38]
Chr17:72295913 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1348-14G>A single nucleotide variant Primary ciliary dyskinesia [RCV002664049] Chr17:74310003 [GRCh38]
Chr17:72306142 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1348-16C>T single nucleotide variant DNAI2-related disorder [RCV003943679]|Primary ciliary dyskinesia [RCV002982293] Chr17:74310001 [GRCh38]
Chr17:72306140 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.517G>A (p.Asp173Asn) single nucleotide variant Primary ciliary dyskinesia [RCV002624329] Chr17:74289643 [GRCh38]
Chr17:72285782 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.714T>C (p.Asn238=) single nucleotide variant Primary ciliary dyskinesia [RCV002828955] Chr17:74291123 [GRCh38]
Chr17:72287262 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1360del (p.Ala454fs) deletion Primary ciliary dyskinesia [RCV003058748] Chr17:74310028 [GRCh38]
Chr17:72306167 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1398C>T (p.Leu466=) single nucleotide variant Primary ciliary dyskinesia [RCV002644064] Chr17:74310067 [GRCh38]
Chr17:72306206 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.894C>T (p.Ser298=) single nucleotide variant Primary ciliary dyskinesia [RCV002805499] Chr17:74301075 [GRCh38]
Chr17:72297214 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.297A>G (p.Lys99=) single nucleotide variant Primary ciliary dyskinesia [RCV002829406] Chr17:74285153 [GRCh38]
Chr17:72281292 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1749G>A (p.Gln583=) single nucleotide variant Primary ciliary dyskinesia [RCV002745244] Chr17:74314147 [GRCh38]
Chr17:72310286 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.864+9C>T single nucleotide variant Primary ciliary dyskinesia [RCV002918399] Chr17:74299866 [GRCh38]
Chr17:72296005 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1163C>A (p.Ala388Asp) single nucleotide variant Primary ciliary dyskinesia [RCV002890614] Chr17:74305394 [GRCh38]
Chr17:72301533 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.345+18C>T single nucleotide variant Primary ciliary dyskinesia [RCV002594066] Chr17:74285219 [GRCh38]
Chr17:72281358 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1402G>A (p.Ala468Thr) single nucleotide variant Primary ciliary dyskinesia [RCV002599801] Chr17:74310071 [GRCh38]
Chr17:72306210 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.823A>T (p.Lys275Ter) single nucleotide variant Primary ciliary dyskinesia [RCV002937543] Chr17:74299816 [GRCh38]
Chr17:72295955 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1255A>T (p.Arg419Trp) single nucleotide variant Primary ciliary dyskinesia [RCV004137597] Chr17:74309296 [GRCh38]
Chr17:72305435 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1495-4C>T single nucleotide variant Primary ciliary dyskinesia [RCV002720312] Chr17:74311999 [GRCh38]
Chr17:72308138 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1008G>T (p.Gly336=) single nucleotide variant Primary ciliary dyskinesia [RCV002806845] Chr17:74305239 [GRCh38]
Chr17:72301378 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1152C>T (p.Gly384=) single nucleotide variant Primary ciliary dyskinesia [RCV002770360] Chr17:74305383 [GRCh38]
Chr17:72301522 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1513C>T (p.Arg505Trp) single nucleotide variant Primary ciliary dyskinesia [RCV004152652] Chr17:74312021 [GRCh38]
Chr17:72308160 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1306G>A (p.Asp436Asn) single nucleotide variant Primary ciliary dyskinesia [RCV004172005] Chr17:74309347 [GRCh38]
Chr17:72305486 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.680A>G (p.Lys227Arg) single nucleotide variant Primary ciliary dyskinesia [RCV002598898] Chr17:74291089 [GRCh38]
Chr17:72287228 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1544G>A (p.Arg515Gln) single nucleotide variant Primary ciliary dyskinesia [RCV002630226] Chr17:74312052 [GRCh38]
Chr17:72308191 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1557G>T (p.Leu519=) single nucleotide variant Primary ciliary dyskinesia [RCV002598483] Chr17:74312065 [GRCh38]
Chr17:72308204 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1555_1561del (p.Leu519fs) deletion Primary ciliary dyskinesia [RCV002895655] Chr17:74312061..74312067 [GRCh38]
Chr17:72308200..72308206 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.78G>A (p.Glu26=) single nucleotide variant Primary ciliary dyskinesia [RCV002895777] Chr17:74281895 [GRCh38]
Chr17:72278034 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.489G>A (p.Arg163=) single nucleotide variant Primary ciliary dyskinesia [RCV002792009] Chr17:74289615 [GRCh38]
Chr17:72285754 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1723-5T>C single nucleotide variant Primary ciliary dyskinesia [RCV003028371] Chr17:74314116 [GRCh38]
Chr17:72310255 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1122C>T (p.Pro374=) single nucleotide variant Primary ciliary dyskinesia [RCV003030190] Chr17:74305353 [GRCh38]
Chr17:72301492 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.966C>T (p.Ser322=) single nucleotide variant Primary ciliary dyskinesia [RCV003061584] Chr17:74301147 [GRCh38]
Chr17:72297286 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1628C>T (p.Ala543Val) single nucleotide variant Primary ciliary dyskinesia [RCV002899860]|not provided [RCV004763471] Chr17:74312136 [GRCh38]
Chr17:72308275 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.213C>T (p.Thr71=) single nucleotide variant Primary ciliary dyskinesia [RCV002899061] Chr17:74285069 [GRCh38]
Chr17:72281208 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.339C>G (p.Leu113=) single nucleotide variant Primary ciliary dyskinesia [RCV003088434] Chr17:74285195 [GRCh38]
Chr17:72281334 [GRCh37]
Chr17:17q25.1		 likely benign
NC_000017.11:g.74285040del deletion Primary ciliary dyskinesia [RCV002899114] Chr17:74285039 [GRCh38]
Chr17:72281178 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.760G>A (p.Glu254Lys) single nucleotide variant Primary ciliary dyskinesia [RCV002577741] Chr17:74299753 [GRCh38]
Chr17:72295892 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.773T>C (p.Ile258Thr) single nucleotide variant Primary ciliary dyskinesia [RCV003065295] Chr17:74299766 [GRCh38]
Chr17:72295905 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1011C>A (p.Thr337=) single nucleotide variant Primary ciliary dyskinesia [RCV002582718] Chr17:74305242 [GRCh38]
Chr17:72301381 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.691G>A (p.Val231Ile) single nucleotide variant Primary ciliary dyskinesia [RCV003050979] Chr17:74291100 [GRCh38]
Chr17:72287239 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.371A>C (p.Asn124Thr) single nucleotide variant Primary ciliary dyskinesia [RCV003068845] Chr17:74287002 [GRCh38]
Chr17:72283141 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.525C>T (p.Asn175=) single nucleotide variant Primary ciliary dyskinesia [RCV003072781] Chr17:74289651 [GRCh38]
Chr17:72285790 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.631C>A (p.Leu211Ile) single nucleotide variant Primary ciliary dyskinesia [RCV003071737] Chr17:74291040 [GRCh38]
Chr17:72287179 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1103A>G (p.Tyr368Cys) single nucleotide variant Primary ciliary dyskinesia 9 [RCV003485810]|Primary ciliary dyskinesia [RCV003070746] Chr17:74305334 [GRCh38]
Chr17:72301473 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1645G>A (p.Glu549Lys) single nucleotide variant Primary ciliary dyskinesia [RCV003070884] Chr17:74312153 [GRCh38]
Chr17:72308292 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.882C>A (p.Ile294=) single nucleotide variant Primary ciliary dyskinesia [RCV002585417] Chr17:74301063 [GRCh38]
Chr17:72297202 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.658G>A (p.Val220Met) single nucleotide variant Primary ciliary dyskinesia [RCV002611190] Chr17:74291067 [GRCh38]
Chr17:72287206 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1028T>G (p.Ile343Ser) single nucleotide variant Primary ciliary dyskinesia [RCV002589246] Chr17:74305259 [GRCh38]
Chr17:72301398 [GRCh37]
Chr17:17q25.1		 likely pathogenic|uncertain significance
NM_023036.6(DNAI2):c.63G>A (p.Ser21=) single nucleotide variant Primary ciliary dyskinesia [RCV002606625] Chr17:74281880 [GRCh38]
Chr17:72278019 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1348-4A>G single nucleotide variant Primary ciliary dyskinesia [RCV003067307] Chr17:74310013 [GRCh38]
Chr17:72306152 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1504C>T (p.Arg502Cys) single nucleotide variant Primary ciliary dyskinesia [RCV002612450] Chr17:74312012 [GRCh38]
Chr17:72308151 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1147G>C (p.Val383Leu) single nucleotide variant Primary ciliary dyskinesia [RCV003066141] Chr17:74305378 [GRCh38]
Chr17:72301517 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1631_1632insAGCG (p.Val545fs) insertion Primary ciliary dyskinesia 9 [RCV003144790] Chr17:74312139..74312140 [GRCh38]
Chr17:72308278..72308279 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.87dup (p.Asp30fs) duplication Primary ciliary dyskinesia 9 [RCV003227564] Chr17:74281903..74281904 [GRCh38]
Chr17:72278042..72278043 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1039C>T (p.Arg347Cys) single nucleotide variant Primary ciliary dyskinesia [RCV003168466] Chr17:74305270 [GRCh38]
Chr17:72301409 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.987+1G>A single nucleotide variant Primary ciliary dyskinesia 9 [RCV003324233] Chr17:74301169 [GRCh38]
Chr17:72297308 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.865-7C>A single nucleotide variant Primary ciliary dyskinesia [RCV003872560] Chr17:74301039 [GRCh38]
Chr17:72297178 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1291_1293del (p.Thr431del) deletion not provided [RCV003329623] Chr17:74309332..74309334 [GRCh38]
Chr17:72305471..72305473 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1722+15A>G single nucleotide variant Primary ciliary dyskinesia [RCV003873253] Chr17:74312245 [GRCh38]
Chr17:72308384 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.314_318del (p.Asn105fs) deletion DNAI2-related disorder [RCV003406223] Chr17:74285170..74285174 [GRCh38]
Chr17:72281309..72281313 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1348-18G>T single nucleotide variant Primary ciliary dyskinesia [RCV003880124] Chr17:74309999 [GRCh38]
Chr17:72306138 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1509G>A (p.Glu503=) single nucleotide variant Primary ciliary dyskinesia [RCV003653871] Chr17:74312017 [GRCh38]
Chr17:72308156 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1441del (p.Val481fs) deletion Primary ciliary dyskinesia [RCV003653704] Chr17:74310109 [GRCh38]
Chr17:72306248 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1416G>A (p.Gln472=) single nucleotide variant Primary ciliary dyskinesia [RCV003648153] Chr17:74310085 [GRCh38]
Chr17:72306224 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1448del (p.Pro483fs) deletion Primary ciliary dyskinesia [RCV003653883] Chr17:74310116 [GRCh38]
Chr17:72306255 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1723-9C>G single nucleotide variant Primary ciliary dyskinesia [RCV003653889] Chr17:74314112 [GRCh38]
Chr17:72310251 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.475del (p.Gln159fs) deletion Primary ciliary dyskinesia [RCV003650044] Chr17:74289597 [GRCh38]
Chr17:72285736 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1347+18C>T single nucleotide variant Primary ciliary dyskinesia [RCV003651789] Chr17:74309406 [GRCh38]
Chr17:72305545 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1005G>C (p.Val335=) single nucleotide variant Primary ciliary dyskinesia [RCV003653737] Chr17:74305236 [GRCh38]
Chr17:72301375 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1236T>C (p.Asp412=) single nucleotide variant Primary ciliary dyskinesia [RCV003650095] Chr17:74309277 [GRCh38]
Chr17:72305416 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.864+16A>C single nucleotide variant Primary ciliary dyskinesia [RCV003649896] Chr17:74299873 [GRCh38]
Chr17:72296012 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1495-2A>T single nucleotide variant Primary ciliary dyskinesia [RCV003654169] Chr17:74312001 [GRCh38]
Chr17:72308140 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1077C>T (p.Thr359=) single nucleotide variant Primary ciliary dyskinesia [RCV003880671] Chr17:74305308 [GRCh38]
Chr17:72301447 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.183+12C>T single nucleotide variant Primary ciliary dyskinesia [RCV003879658] Chr17:74282012 [GRCh38]
Chr17:72278151 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1473T>C (p.Asn491=) single nucleotide variant Primary ciliary dyskinesia [RCV003650994] Chr17:74310142 [GRCh38]
Chr17:72306281 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.780C>T (p.Ser260=) single nucleotide variant Primary ciliary dyskinesia [RCV003653702] Chr17:74299773 [GRCh38]
Chr17:72295912 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.987+14dup duplication Primary ciliary dyskinesia [RCV003654086] Chr17:74301181..74301182 [GRCh38]
Chr17:72297320..72297321 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.467+14C>G single nucleotide variant Primary ciliary dyskinesia [RCV003653789] Chr17:74287112 [GRCh38]
Chr17:72283251 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1428C>G (p.Thr476=) single nucleotide variant Primary ciliary dyskinesia [RCV003653972] Chr17:74310097 [GRCh38]
Chr17:72306236 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1326C>A (p.Cys442Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003651297] Chr17:74309367 [GRCh38]
Chr17:72305506 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.183+15C>T single nucleotide variant Primary ciliary dyskinesia [RCV003653816] Chr17:74282015 [GRCh38]
Chr17:72278154 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.610+1G>T single nucleotide variant Primary ciliary dyskinesia [RCV003651133] Chr17:74289737 [GRCh38]
Chr17:72285876 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.660G>T (p.Val220=) single nucleotide variant Primary ciliary dyskinesia [RCV003647573] Chr17:74291069 [GRCh38]
Chr17:72287208 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1600del (p.Asp534fs) deletion Primary ciliary dyskinesia [RCV003653990] Chr17:74312108 [GRCh38]
Chr17:72308247 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.90C>T (p.Asp30=) single nucleotide variant Primary ciliary dyskinesia [RCV003653992] Chr17:74281907 [GRCh38]
Chr17:72278046 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1212-20_1212-19del deletion Primary ciliary dyskinesia [RCV003825033] Chr17:74309233..74309234 [GRCh38]
Chr17:72305372..72305373 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.412G>T (p.Glu138Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003651187] Chr17:74287043 [GRCh38]
Chr17:72283182 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1113G>A (p.Gln371=) single nucleotide variant Primary ciliary dyskinesia [RCV003654097] Chr17:74305344 [GRCh38]
Chr17:72301483 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1515G>A (p.Arg505=) single nucleotide variant Primary ciliary dyskinesia [RCV003651287] Chr17:74312023 [GRCh38]
Chr17:72308162 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1211+17G>T single nucleotide variant Primary ciliary dyskinesia [RCV003653958] Chr17:74305459 [GRCh38]
Chr17:72301598 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1433del (p.Leu478fs) deletion Primary ciliary dyskinesia [RCV003826648] Chr17:74310102 [GRCh38]
Chr17:72306241 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1674A>G (p.Ala558=) single nucleotide variant Primary ciliary dyskinesia [RCV003651358] Chr17:74312182 [GRCh38]
Chr17:72308321 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.864+19C>T single nucleotide variant Primary ciliary dyskinesia [RCV003651593] Chr17:74299876 [GRCh38]
Chr17:72296015 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.300G>C (p.Val100=) single nucleotide variant Primary ciliary dyskinesia [RCV003652544] Chr17:74285156 [GRCh38]
Chr17:72281295 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1323G>A (p.Gln441=) single nucleotide variant Primary ciliary dyskinesia [RCV003650967] Chr17:74309364 [GRCh38]
Chr17:72305503 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1347+19C>T single nucleotide variant Primary ciliary dyskinesia [RCV003649712] Chr17:74309407 [GRCh38]
Chr17:72305546 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.405T>C (p.Asn135=) single nucleotide variant Primary ciliary dyskinesia [RCV003649715] Chr17:74287036 [GRCh38]
Chr17:72283175 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1348-11C>G single nucleotide variant Primary ciliary dyskinesia [RCV003648119] Chr17:74310006 [GRCh38]
Chr17:72306145 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1653G>A (p.Glu551=) single nucleotide variant Primary ciliary dyskinesia [RCV003649889] Chr17:74312161 [GRCh38]
Chr17:72308300 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1182C>T (p.Asp394=) single nucleotide variant Primary ciliary dyskinesia [RCV003649897] Chr17:74305413 [GRCh38]
Chr17:72301552 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1495-2_1495-1delinsTT indel Primary ciliary dyskinesia [RCV003652305] Chr17:74312001..74312002 [GRCh38]
Chr17:72308140..72308141 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1495-12C>T single nucleotide variant Primary ciliary dyskinesia [RCV003651135] Chr17:74311991 [GRCh38]
Chr17:72308130 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.444A>T (p.Ser148=) single nucleotide variant Primary ciliary dyskinesia [RCV003647474] Chr17:74287075 [GRCh38]
Chr17:72283214 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.864+14A>G single nucleotide variant Primary ciliary dyskinesia [RCV003829649] Chr17:74299871 [GRCh38]
Chr17:72296010 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.606C>T (p.Asp202=) single nucleotide variant Primary ciliary dyskinesia [RCV003652425] Chr17:74289732 [GRCh38]
Chr17:72285871 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1440G>A (p.Glu480=) single nucleotide variant Primary ciliary dyskinesia [RCV003647309] Chr17:74310109 [GRCh38]
Chr17:72306248 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.750C>T (p.Ser250=) single nucleotide variant Primary ciliary dyskinesia [RCV003881630] Chr17:74299743 [GRCh38]
Chr17:72295882 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1245G>A (p.Trp415Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003649707] Chr17:74309286 [GRCh38]
Chr17:72305425 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1665C>A (p.Ile555=) single nucleotide variant Primary ciliary dyskinesia [RCV003649709] Chr17:74312173 [GRCh38]
Chr17:72308312 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.357C>T (p.His119=) single nucleotide variant Primary ciliary dyskinesia [RCV003649717] Chr17:74286988 [GRCh38]
Chr17:72283127 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.468-12T>C single nucleotide variant Primary ciliary dyskinesia [RCV003650335] Chr17:74289582 [GRCh38]
Chr17:72285721 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.184-15C>T single nucleotide variant Primary ciliary dyskinesia [RCV003652635] Chr17:74285025 [GRCh38]
Chr17:72281164 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1141C>T (p.Leu381=) single nucleotide variant Primary ciliary dyskinesia [RCV003652946] Chr17:74305372 [GRCh38]
Chr17:72301511 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.66C>T (p.Asp22=) single nucleotide variant Primary ciliary dyskinesia [RCV003651341] Chr17:74281883 [GRCh38]
Chr17:72278022 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1818G>A (p.Ter606=) single nucleotide variant Primary ciliary dyskinesia [RCV003647439] Chr17:74314216 [GRCh38]
Chr17:72310355 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1161A>G (p.Thr387=) single nucleotide variant Primary ciliary dyskinesia [RCV003650909] Chr17:74305392 [GRCh38]
Chr17:72301531 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1045_1057del (p.Ala349fs) deletion Primary ciliary dyskinesia [RCV003652712] Chr17:74305274..74305286 [GRCh38]
Chr17:72301413..72301425 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.611-19A>T single nucleotide variant Primary ciliary dyskinesia [RCV003652732] Chr17:74291001 [GRCh38]
Chr17:72287140 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.562C>T (p.Gln188Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003647505] Chr17:74289688 [GRCh38]
Chr17:72285827 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.864+10A>T single nucleotide variant Primary ciliary dyskinesia [RCV003652347] Chr17:74299867 [GRCh38]
Chr17:72296006 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.654A>T (p.Pro218=) single nucleotide variant Primary ciliary dyskinesia [RCV003651058] Chr17:74291063 [GRCh38]
Chr17:72287202 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.576G>A (p.Val192=) single nucleotide variant Primary ciliary dyskinesia [RCV003653111] Chr17:74289702 [GRCh38]
Chr17:72285841 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.183+20G>T single nucleotide variant Primary ciliary dyskinesia [RCV003652500] Chr17:74282020 [GRCh38]
Chr17:72278159 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.184-13G>A single nucleotide variant Primary ciliary dyskinesia [RCV003652501] Chr17:74285027 [GRCh38]
Chr17:72281166 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.725-13_725-11del deletion Primary ciliary dyskinesia [RCV003653051] Chr17:74299703..74299705 [GRCh38]
Chr17:72295842..72295844 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.30G>A (p.Lys10=) single nucleotide variant Primary ciliary dyskinesia [RCV003651208] Chr17:74281847 [GRCh38]
Chr17:72277986 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1723-20T>C single nucleotide variant Primary ciliary dyskinesia [RCV003647433] Chr17:74314101 [GRCh38]
Chr17:72310240 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1347+13T>A single nucleotide variant Primary ciliary dyskinesia [RCV003878180] Chr17:74309401 [GRCh38]
Chr17:72305540 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.611-19A>C single nucleotide variant Primary ciliary dyskinesia [RCV003647449] Chr17:74291001 [GRCh38]
Chr17:72287140 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1199T>A (p.Ile400Asn) single nucleotide variant Primary ciliary dyskinesia 9 [RCV003486399] Chr17:74305430 [GRCh38]
Chr17:72301569 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1347+14C>A single nucleotide variant Primary ciliary dyskinesia [RCV003647593] Chr17:74309402 [GRCh38]
Chr17:72305541 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.262del (p.Leu88fs) deletion Primary ciliary dyskinesia [RCV003648221] Chr17:74285114 [GRCh38]
Chr17:72281253 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1211+7G>A single nucleotide variant Primary ciliary dyskinesia [RCV003647321] Chr17:74305449 [GRCh38]
Chr17:72301588 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1212-19T>A single nucleotide variant Primary ciliary dyskinesia [RCV003536413] Chr17:74309234 [GRCh38]
Chr17:72305373 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1512C>G (p.Thr504=) single nucleotide variant Primary ciliary dyskinesia [RCV003536436] Chr17:74312020 [GRCh38]
Chr17:72308159 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.345+19C>A single nucleotide variant Primary ciliary dyskinesia [RCV003850525] Chr17:74285220 [GRCh38]
Chr17:72281359 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.618del (p.Asn207fs) deletion Primary ciliary dyskinesia [RCV003835033] Chr17:74291024 [GRCh38]
Chr17:72287163 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.15C>A (p.Tyr5Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003536874] Chr17:74281832 [GRCh38]
Chr17:72277971 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1211+7G>C single nucleotide variant Primary ciliary dyskinesia [RCV003536959] Chr17:74305449 [GRCh38]
Chr17:72301588 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.231dup (p.Glu78fs) duplication Primary ciliary dyskinesia [RCV003535414] Chr17:74285086..74285087 [GRCh38]
Chr17:72281225..72281226 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.325_326del (p.Ala109fs) deletion Primary ciliary dyskinesia [RCV003535508] Chr17:74285180..74285181 [GRCh38]
Chr17:72281319..72281320 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.611-17T>A single nucleotide variant Primary ciliary dyskinesia [RCV003536322] Chr17:74291003 [GRCh38]
Chr17:72287142 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.546C>G (p.Tyr182Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003536531] Chr17:74289672 [GRCh38]
Chr17:72285811 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.951C>T (p.Ala317=) single nucleotide variant Primary ciliary dyskinesia [RCV003536544] Chr17:74301132 [GRCh38]
Chr17:72297271 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1209C>T (p.Thr403=) single nucleotide variant Primary ciliary dyskinesia [RCV003538017] Chr17:74305440 [GRCh38]
Chr17:72301579 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1723-19G>A single nucleotide variant Primary ciliary dyskinesia [RCV003536627] Chr17:74314102 [GRCh38]
Chr17:72310241 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.864+19C>G single nucleotide variant Primary ciliary dyskinesia [RCV003537691] Chr17:74299876 [GRCh38]
Chr17:72296015 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1611G>T (p.Leu537=) single nucleotide variant Primary ciliary dyskinesia [RCV003539192] Chr17:74312119 [GRCh38]
Chr17:72308258 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.831C>T (p.Gly277=) single nucleotide variant Primary ciliary dyskinesia [RCV003539258] Chr17:74299824 [GRCh38]
Chr17:72295963 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1722+14C>T single nucleotide variant Primary ciliary dyskinesia [RCV003535057] Chr17:74312244 [GRCh38]
Chr17:72308383 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.611-16T>A single nucleotide variant Primary ciliary dyskinesia [RCV003538900] Chr17:74291004 [GRCh38]
Chr17:72287143 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1422G>A (p.Gly474=) single nucleotide variant Primary ciliary dyskinesia [RCV003536774] Chr17:74310091 [GRCh38]
Chr17:72306230 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.184-20T>G single nucleotide variant Primary ciliary dyskinesia [RCV003538214] Chr17:74285020 [GRCh38]
Chr17:72281159 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.724+24dup duplication Primary ciliary dyskinesia [RCV003539011] Chr17:74291151..74291152 [GRCh38]
Chr17:72287290..72287291 [GRCh37]
Chr17:17q25.1		 benign
NM_023036.6(DNAI2):c.610+20T>C single nucleotide variant Primary ciliary dyskinesia [RCV003535147] Chr17:74289756 [GRCh38]
Chr17:72285895 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.611-7T>C single nucleotide variant Primary ciliary dyskinesia [RCV003538236] Chr17:74291013 [GRCh38]
Chr17:72287152 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.228T>C (p.His76=) single nucleotide variant Primary ciliary dyskinesia [RCV003538248] Chr17:74285084 [GRCh38]
Chr17:72281223 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.724+20TTTTTA[2] microsatellite Primary ciliary dyskinesia [RCV003535312] Chr17:74291153..74291158 [GRCh38]
Chr17:72287292..72287297 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.724+20T>G single nucleotide variant Primary ciliary dyskinesia [RCV003817046] Chr17:74291153 [GRCh38]
Chr17:72287292 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1338C>T (p.Leu446=) single nucleotide variant Primary ciliary dyskinesia [RCV003537614] Chr17:74309379 [GRCh38]
Chr17:72305518 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1495-13C>G single nucleotide variant Primary ciliary dyskinesia [RCV003536507] Chr17:74311990 [GRCh38]
Chr17:72308129 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.345+2T>C single nucleotide variant Primary ciliary dyskinesia [RCV003536510] Chr17:74285203 [GRCh38]
Chr17:72281342 [GRCh37]
Chr17:17q25.1		 likely pathogenic
NM_023036.6(DNAI2):c.1347+10A>G single nucleotide variant Primary ciliary dyskinesia [RCV003538254] Chr17:74309398 [GRCh38]
Chr17:72305537 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1513del (p.Arg505fs) deletion Primary ciliary dyskinesia [RCV003537013] Chr17:74312019 [GRCh38]
Chr17:72308158 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.610+9C>G single nucleotide variant Primary ciliary dyskinesia [RCV003536880] Chr17:74289745 [GRCh38]
Chr17:72285884 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1347+12G>A single nucleotide variant Primary ciliary dyskinesia [RCV003537577] Chr17:74309400 [GRCh38]
Chr17:72305539 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.114C>T (p.Ala38=) single nucleotide variant Primary ciliary dyskinesia [RCV003538969] Chr17:74281931 [GRCh38]
Chr17:72278070 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1495-14C>G single nucleotide variant Primary ciliary dyskinesia [RCV003539020] Chr17:74311989 [GRCh38]
Chr17:72308128 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1137C>T (p.Asn379=) single nucleotide variant Primary ciliary dyskinesia [RCV003539247] Chr17:74305368 [GRCh38]
Chr17:72301507 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1722+15_1722+16del deletion Primary ciliary dyskinesia [RCV003538316] Chr17:74312245..74312246 [GRCh38]
Chr17:72308384..72308385 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.154C>T (p.Gln52Ter) single nucleotide variant Primary ciliary dyskinesia [RCV003537695] Chr17:74281971 [GRCh38]
Chr17:72278110 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.864+17C>A single nucleotide variant Primary ciliary dyskinesia [RCV003537690] Chr17:74299874 [GRCh38]
Chr17:72296013 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.865-17G>A single nucleotide variant Primary ciliary dyskinesia [RCV003537863] Chr17:74301029 [GRCh38]
Chr17:72297168 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.663G>T (p.Thr221=) single nucleotide variant Primary ciliary dyskinesia [RCV003537821] Chr17:74291072 [GRCh38]
Chr17:72287211 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.819G>A (p.Gln273=) single nucleotide variant Primary ciliary dyskinesia [RCV003537875] Chr17:74299812 [GRCh38]
Chr17:72295951 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1212-23_1212-9del deletion Primary ciliary dyskinesia [RCV003537894] Chr17:74309227..74309241 [GRCh38]
Chr17:72305366..72305380 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.261_262dup (p.Leu88fs) duplication Primary ciliary dyskinesia [RCV003536496] Chr17:74285113..74285114 [GRCh38]
Chr17:72281252..72281253 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.192A>T (p.Ser64=) single nucleotide variant Primary ciliary dyskinesia [RCV003538083] Chr17:74285048 [GRCh38]
Chr17:72281187 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.724+18C>T single nucleotide variant Primary ciliary dyskinesia [RCV003538889] Chr17:74291151 [GRCh38]
Chr17:72287290 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.861G>A (p.Gly287=) single nucleotide variant Primary ciliary dyskinesia [RCV003538230] Chr17:74299854 [GRCh38]
Chr17:72295993 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.180C>T (p.His60=) single nucleotide variant Primary ciliary dyskinesia [RCV003536722] Chr17:74281997 [GRCh38]
Chr17:72278136 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.724+12C>A single nucleotide variant Primary ciliary dyskinesia [RCV003536684] Chr17:74291145 [GRCh38]
Chr17:72287284 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1211+9C>G single nucleotide variant Primary ciliary dyskinesia [RCV003536476] Chr17:74305451 [GRCh38]
Chr17:72301590 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.697C>T (p.Leu233=) single nucleotide variant Primary ciliary dyskinesia [RCV003536625] Chr17:74291106 [GRCh38]
Chr17:72287245 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1146G>C (p.Thr382=) single nucleotide variant Primary ciliary dyskinesia [RCV003536943] Chr17:74305377 [GRCh38]
Chr17:72301516 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1186_1193del (p.Arg396fs) deletion Primary ciliary dyskinesia [RCV003536313] Chr17:74305416..74305423 [GRCh38]
Chr17:72301555..72301562 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.921C>T (p.Asp307=) single nucleotide variant Primary ciliary dyskinesia [RCV003535325] Chr17:74301102 [GRCh38]
Chr17:72297241 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1155C>T (p.Asp385=) single nucleotide variant Primary ciliary dyskinesia [RCV003535396] Chr17:74305386 [GRCh38]
Chr17:72301525 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1461C>T (p.Thr487=) single nucleotide variant Primary ciliary dyskinesia [RCV003536533] Chr17:74310130 [GRCh38]
Chr17:72306269 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1348-15C>T single nucleotide variant Primary ciliary dyskinesia [RCV003816191] Chr17:74310002 [GRCh38]
Chr17:72306141 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.988-16G>A single nucleotide variant Primary ciliary dyskinesia [RCV003838479] Chr17:74305203 [GRCh38]
Chr17:72301342 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1494+20G>A single nucleotide variant Primary ciliary dyskinesia [RCV003822858] Chr17:74310183 [GRCh38]
Chr17:72306322 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1723-17G>A single nucleotide variant Primary ciliary dyskinesia [RCV003865152] Chr17:74314104 [GRCh38]
Chr17:72310243 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1047C>T (p.Ala349=) single nucleotide variant Primary ciliary dyskinesia [RCV003840679] Chr17:74305278 [GRCh38]
Chr17:72301417 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1716A>C (p.Pro572=) single nucleotide variant Primary ciliary dyskinesia [RCV003861490] Chr17:74312224 [GRCh38]
Chr17:72308363 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.346-13G>A single nucleotide variant Primary ciliary dyskinesia [RCV003853423] Chr17:74286964 [GRCh38]
Chr17:72283103 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1239T>C (p.Ala413=) single nucleotide variant Primary ciliary dyskinesia [RCV003818510] Chr17:74309280 [GRCh38]
Chr17:72305419 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.467+17G>T single nucleotide variant Primary ciliary dyskinesia [RCV003854049] Chr17:74287115 [GRCh38]
Chr17:72283254 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1227C>T (p.Tyr409=) single nucleotide variant Primary ciliary dyskinesia [RCV003845337] Chr17:74309268 [GRCh38]
Chr17:72305407 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1348-14G>T single nucleotide variant Primary ciliary dyskinesia [RCV003847610] Chr17:74310003 [GRCh38]
Chr17:72306142 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1495-14C>T single nucleotide variant Primary ciliary dyskinesia [RCV003841911] Chr17:74311989 [GRCh38]
Chr17:72308128 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.300G>A (p.Val100=) single nucleotide variant Primary ciliary dyskinesia [RCV003844950] Chr17:74285156 [GRCh38]
Chr17:72281295 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.459T>C (p.Asn153=) single nucleotide variant Primary ciliary dyskinesia [RCV003843752] Chr17:74287090 [GRCh38]
Chr17:72283229 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1494+12G>C single nucleotide variant Primary ciliary dyskinesia [RCV003864765] Chr17:74310175 [GRCh38]
Chr17:72306314 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.1751T>C (p.Val584Ala) single nucleotide variant Primary ciliary dyskinesia [RCV004517572] Chr17:74314149 [GRCh38]
Chr17:72310288 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.-7C>T single nucleotide variant DNAI2-related disorder [RCV003934361] Chr17:74281811 [GRCh38]
Chr17:72277950 [GRCh37]
Chr17:17q25.1		 likely benign
NM_023036.6(DNAI2):c.776A>C (p.Glu259Ala) single nucleotide variant Primary ciliary dyskinesia [RCV004379133] Chr17:74299769 [GRCh38]
Chr17:72295908 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1347G>T (p.Lys449Asn) single nucleotide variant Respiratory ciliopathies including non-CF bronchiectasis [RCV004584170] Chr17:74309388 [GRCh38]
Chr17:72305527 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.977A>G (p.Glu326Gly) single nucleotide variant Primary ciliary dyskinesia [RCV004622101] Chr17:74301158 [GRCh38]
Chr17:72297297 [GRCh37]
Chr17:17q25.1		 uncertain significance
NC_000017.10:g.(?_72277957)_(72310355_?)del deletion Primary ciliary dyskinesia [RCV004579881] Chr17:72277957..72310355 [GRCh37]
Chr17:17q25.1		 pathogenic
NC_000017.10:g.(?_72287139)_(72287292_?)del deletion Primary ciliary dyskinesia [RCV004579882] Chr17:72287139..72287292 [GRCh37]
Chr17:17q25.1		 pathogenic
NC_000017.10:g.(?_72281159)_(72285895_?)del deletion Primary ciliary dyskinesia [RCV004579883] Chr17:72281159..72285895 [GRCh37]
Chr17:17q25.1		 pathogenic
NC_000017.10:g.(?_72297165)_(72310355_?)del deletion Primary ciliary dyskinesia [RCV004579884] Chr17:72297165..72310355 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_023036.6(DNAI2):c.1445C>T (p.Ser482Leu) single nucleotide variant Primary ciliary dyskinesia [RCV004622099] Chr17:74310114 [GRCh38]
Chr17:72306253 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1082C>T (p.Pro361Leu) single nucleotide variant Primary ciliary dyskinesia [RCV004622100] Chr17:74305313 [GRCh38]
Chr17:72301452 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_023036.6(DNAI2):c.1153G>T (p.Asp385Tyr) single nucleotide variant not provided [RCV004776068] Chr17:74305384 [GRCh38]
Chr17:72301523 [GRCh37]
Chr17:17q25.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2011
Count of miRNA genes:622
Interacting mature miRNAs:700
Transcripts:ENST00000307504, ENST00000311014, ENST00000446837, ENST00000579055, ENST00000579312, ENST00000579490, ENST00000582036
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406994275GWAS643251_HAlzheimer disease, dementia, family history of Alzheimer’s disease QTL GWAS643251 (human)0.0000005Alzheimer disease, dementia, family history of Alzheimer’s disease177427746974277470Human
406956889GWAS605865_Harginine measurement QTL GWAS605865 (human)5e-08arginine measurement177430657774306578Human

Markers in Region
SHGC-149208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371772,294,139 - 72,294,425UniSTSGRCh37
Build 361769,805,734 - 69,806,020RGDNCBI36
Celera1768,887,058 - 68,887,344RGD
Cytogenetic Map17q25UniSTS
HuRef1767,704,022 - 67,704,308UniSTS
TNG Radiation Hybrid Map1733146.0UniSTS
G19286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371772,281,921 - 72,282,064UniSTSGRCh37
Build 361769,793,516 - 69,793,659RGDNCBI36
Celera1768,874,511 - 68,874,654RGD
Cytogenetic Map17q25UniSTS
HuRef1767,692,145 - 67,692,288UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1060 1866 1827 1333 4251 1384 1889 1 353 1648 227 1871 4823 4890 17 3300 611 1512 1425 128

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_023036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC103809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF250288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ295276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG723530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI462861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI464166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB514781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000311014   ⟹   ENSP00000308312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,274,234 - 74,314,884 (+)Ensembl
Ensembl Acc Id: ENST00000446837   ⟹   ENSP00000400252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,281,512 - 74,314,883 (+)Ensembl
Ensembl Acc Id: ENST00000579055   ⟹   ENSP00000462767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,274,256 - 74,314,884 (+)Ensembl
Ensembl Acc Id: ENST00000579312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,313,844 - 74,314,880 (+)Ensembl
Ensembl Acc Id: ENST00000579490   ⟹   ENSP00000464197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,281,512 - 74,314,884 (+)Ensembl
Ensembl Acc Id: ENST00000582036   ⟹   ENSP00000461950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,274,247 - 74,314,884 (+)Ensembl
RefSeq Acc Id: NM_001172810   ⟹   NP_001166281
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,884 (+)NCBI
GRCh371772,270,386 - 72,311,023 (+)RGD
GRCh371772,270,386 - 72,311,023 (+)NCBI
Celera1768,862,977 - 68,903,740 (+)RGD
HuRef1767,680,718 - 67,720,707 (+)ENTREZGENE
CHM1_11772,334,947 - 72,375,682 (+)NCBI
T2T-CHM13v2.01775,165,034 - 75,205,531 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353167   ⟹   NP_001340096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,884 (+)NCBI
T2T-CHM13v2.01775,165,034 - 75,205,531 (+)NCBI
Sequence:
RefSeq Acc Id: NM_023036   ⟹   NP_075462
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,884 (+)NCBI
GRCh371772,270,386 - 72,311,023 (+)RGD
GRCh371772,270,386 - 72,311,023 (+)NCBI
Build 361769,782,007 - 69,822,618 (+)NCBI Archive
Celera1768,862,977 - 68,903,740 (+)RGD
HuRef1767,680,718 - 67,720,707 (+)ENTREZGENE
CHM1_11772,334,947 - 72,375,682 (+)NCBI
T2T-CHM13v2.01775,165,034 - 75,205,531 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148379
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,884 (+)NCBI
T2T-CHM13v2.01775,165,034 - 75,205,531 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525125   ⟹   XP_011523427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,884 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054316918   ⟹   XP_054172893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,165,034 - 75,205,531 (+)NCBI
RefSeq Acc Id: XR_007065388
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,884 (+)NCBI
RefSeq Acc Id: XR_007065389
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,884 (+)NCBI
RefSeq Acc Id: XR_007065390
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,370 - 74,314,884 (+)NCBI
RefSeq Acc Id: XR_007065391
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,330 - 74,314,884 (+)NCBI
RefSeq Acc Id: XR_007065393
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,380 - 74,314,884 (+)NCBI
RefSeq Acc Id: XR_007065394
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,206 (+)NCBI
RefSeq Acc Id: XR_007065395
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,884 (+)NCBI
RefSeq Acc Id: XR_007065396
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,884 (+)NCBI
RefSeq Acc Id: XR_007065397
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,884 (+)NCBI
RefSeq Acc Id: XR_007065398
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,884 (+)NCBI
RefSeq Acc Id: XR_007065399
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,234 - 74,314,884 (+)NCBI
RefSeq Acc Id: XR_007065400
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,285,076 - 74,314,884 (+)NCBI
RefSeq Acc Id: XR_008484878
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,165,033 - 75,205,531 (+)NCBI
RefSeq Acc Id: XR_008484879
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,165,034 - 75,205,531 (+)NCBI
RefSeq Acc Id: XR_008484880
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,165,170 - 75,205,531 (+)NCBI
RefSeq Acc Id: XR_008484881
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,165,130 - 75,205,531 (+)NCBI
RefSeq Acc Id: XR_008484882
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,165,180 - 75,205,531 (+)NCBI
RefSeq Acc Id: XR_008484883
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,165,034 - 75,204,853 (+)NCBI
RefSeq Acc Id: XR_008484884
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,165,034 - 75,205,531 (+)NCBI
RefSeq Acc Id: XR_008484885
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,165,034 - 75,205,531 (+)NCBI
RefSeq Acc Id: XR_008484886
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,165,034 - 75,205,531 (+)NCBI
RefSeq Acc Id: XR_008484887
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,165,034 - 75,205,531 (+)NCBI
RefSeq Acc Id: XR_008484888
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,165,034 - 75,205,531 (+)NCBI
RefSeq Acc Id: XR_008484889
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,175,874 - 75,205,531 (+)NCBI
RefSeq Acc Id: NP_075462   ⟸   NM_023036
- Peptide Label: isoform 1
- UniProtKB: Q9H179 (UniProtKB/Swiss-Prot),   Q8IUW4 (UniProtKB/Swiss-Prot),   C9J0S6 (UniProtKB/Swiss-Prot),   Q9NT53 (UniProtKB/Swiss-Prot),   Q9GZS0 (UniProtKB/Swiss-Prot),   J3QRG2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001166281   ⟸   NM_001172810
- Peptide Label: isoform 2
- UniProtKB: J3QRG2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523427   ⟸   XM_011525125
- Peptide Label: isoform X1
- UniProtKB: J3QRG2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340096   ⟸   NM_001353167
- Peptide Label: isoform 3
- UniProtKB: J3QRG2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000461950   ⟸   ENST00000582036
Ensembl Acc Id: ENSP00000308312   ⟸   ENST00000311014
Ensembl Acc Id: ENSP00000400252   ⟸   ENST00000446837
Ensembl Acc Id: ENSP00000462767   ⟸   ENST00000579055
Ensembl Acc Id: ENSP00000464197   ⟸   ENST00000579490
RefSeq Acc Id: XP_054172893   ⟸   XM_054316918
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9GZS0-F1-model_v2 AlphaFold Q9GZS0 1-605 view protein structure

Promoters
RGD ID:7236191
Promoter ID:EPDNEW_H23841
Type:initiation region
Name:DNAI2_1
Description:dynein axonemal intermediate chain 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,274,199 - 74,274,259EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18744 AgrOrtholog
COSMIC DNAI2 COSMIC
Ensembl Genes ENSG00000171595 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000311014 ENTREZGENE
  ENST00000311014.11 UniProtKB/Swiss-Prot
  ENST00000446837.2 UniProtKB/Swiss-Prot
  ENST00000579055 ENTREZGENE
  ENST00000579055.5 UniProtKB/TrEMBL
  ENST00000579490.5 UniProtKB/TrEMBL
  ENST00000582036 ENTREZGENE
  ENST00000582036.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171595 GTEx
HGNC ID HGNC:18744 ENTREZGENE
Human Proteome Map DNAI2 Human Proteome Map
InterPro Dynein_IC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64446 UniProtKB/Swiss-Prot
NCBI Gene 64446 ENTREZGENE
OMIM 605483 OMIM
PANTHER DYNEIN AXONEMAL INTERMEDIATE CHAIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DYNEIN INTERMEDIATE CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38669 PharmGKB
PROSITE WD_REPEATS_REGION UniProtKB/Swiss-Prot
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9J0S6 ENTREZGENE
  DNAI2_HUMAN UniProtKB/Swiss-Prot
  J3KT23_HUMAN UniProtKB/TrEMBL
  J3QRG2 ENTREZGENE, UniProtKB/TrEMBL
  Q4G115_HUMAN UniProtKB/TrEMBL
  Q8IUW4 ENTREZGENE
  Q9GZS0 ENTREZGENE
  Q9H179 ENTREZGENE
  Q9NT53 ENTREZGENE
UniProt Secondary C9J0S6 UniProtKB/Swiss-Prot
  Q8IUW4 UniProtKB/Swiss-Prot
  Q9H179 UniProtKB/Swiss-Prot
  Q9NT53 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 DNAI2  dynein axonemal intermediate chain 2    dynein, axonemal, intermediate chain 2  Symbol and/or name change 5135510 APPROVED