SPAG1 (sperm associated antigen 1) - Rat Genome Database

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Gene: SPAG1 (sperm associated antigen 1) Homo sapiens
Analyze
Symbol: SPAG1
Name: sperm associated antigen 1
RGD ID: 1321762
HGNC Page HGNC
Description: Predicted to have GTP binding activity and hydrolase activity. Predicted to be involved in axonemal dynein complex assembly. Localizes to cytosol. Implicated in primary ciliary dyskinesia 28.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CILD28; CT140; DNAAF13; epididymis secretory protein Li 268; FLJ32920; HEL-S-268; HSD-3.8; infertility-related sperm protein Spag-1; SP75; sperm-associated antigen 1; tetratricopeptide repeat-containing protein; TPIS; TPR-containing protein involved in spermatogenesis
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8100,157,906 - 100,259,278 (+)EnsemblGRCh38hg38GRCh38
GRCh388100,157,869 - 100,241,904 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378101,170,266 - 101,254,132 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368101,239,439 - 101,323,306 (+)NCBINCBI36hg18NCBI36
Build 348101,239,438 - 101,323,306NCBI
Celera897,355,644 - 97,439,501 (+)NCBI
Cytogenetic Map8q22.2NCBI
HuRef896,373,019 - 96,457,131 (+)NCBIHuRef
CHM1_18101,210,561 - 101,294,468 (+)NCBICHM1_1
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
cytoplasm  (IDA)
cytosol  (IBA,IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1299558   PMID:8849440   PMID:8889548   PMID:9138444   PMID:10527845   PMID:11517287   PMID:12477932   PMID:12509440   PMID:12846798   PMID:14702039   PMID:15489334   PMID:16344560  
PMID:16368546   PMID:16983343   PMID:20301301   PMID:20849852   PMID:21873635   PMID:23314748   PMID:24055112   PMID:25468996   PMID:26186194   PMID:26496610   PMID:27173435   PMID:28514442  
PMID:28561026   PMID:29987050   PMID:30021884   PMID:30344098   PMID:30639242   PMID:31118266  


Genomics

Comparative Map Data
SPAG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8100,157,906 - 100,259,278 (+)EnsemblGRCh38hg38GRCh38
GRCh388100,157,869 - 100,241,904 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378101,170,266 - 101,254,132 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368101,239,439 - 101,323,306 (+)NCBINCBI36hg18NCBI36
Build 348101,239,438 - 101,323,306NCBI
Celera897,355,644 - 97,439,501 (+)NCBI
Cytogenetic Map8q22.2NCBI
HuRef896,373,019 - 96,457,131 (+)NCBIHuRef
CHM1_18101,210,561 - 101,294,468 (+)NCBICHM1_1
Spag1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391536,175,629 - 36,235,767 (+)NCBIGRCm39mm39
GRCm39 Ensembl1536,178,245 - 36,235,767 (+)Ensembl
GRCm381536,176,229 - 36,235,621 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1536,178,099 - 36,235,621 (+)EnsemblGRCm38mm10GRCm38
MGSCv371536,109,285 - 36,164,932 (+)NCBIGRCm37mm9NCBIm37
MGSCv361536,123,957 - 36,180,199 (+)NCBImm8
Celera1536,807,290 - 36,863,102 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
Spag1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2767,361,474 - 67,421,369 (+)NCBI
Rnor_6.0 Ensembl774,994,605 - 75,054,293 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0774,994,379 - 75,054,294 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0775,143,486 - 75,202,278 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4771,699,341 - 71,759,373 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1771,720,070 - 71,780,102 (+)NCBI
Celera764,442,618 - 64,502,487 (+)NCBICelera
Cytogenetic Map7q22NCBI
Spag1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541715,421,737 - 15,481,797 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541715,417,604 - 15,482,650 (+)NCBIChiLan1.0ChiLan1.0
SPAG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1898,973,277 - 99,055,728 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl898,977,469 - 99,054,849 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0896,798,887 - 96,882,982 (+)NCBIMhudiblu_PPA_v0panPan3
SPAG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1132,065,726 - 2,127,199 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha132,063,133 - 2,124,525 (+)NCBI
ROS_Cfam_1.0132,218,823 - 2,280,267 (+)NCBI
UMICH_Zoey_3.1132,063,009 - 2,124,472 (+)NCBI
UNSW_CanFamBas_1.0132,175,065 - 2,236,504 (+)NCBI
UU_Cfam_GSD_1.0132,176,064 - 2,237,493 (+)NCBI
Spag1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530335,589,586 - 35,651,659 (-)NCBI
SpeTri2.0NW_00493647043,015,688 - 43,078,158 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPAG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl436,746,800 - 36,844,512 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1436,746,798 - 36,844,662 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2439,668,767 - 39,757,888 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SPAG1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1895,008,812 - 95,093,315 (+)NCBI
ChlSab1.1 Ensembl895,013,250 - 95,092,451 (+)Ensembl
Spag1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247637,074,468 - 7,141,388 (+)NCBI

Position Markers
SHGC-149057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,203,849 - 101,204,160UniSTSGRCh37
Build 368101,273,025 - 101,273,336RGDNCBI36
Celera897,389,236 - 97,389,547RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,406,667 - 96,406,978UniSTS
SPAG1_8638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,253,439 - 101,254,157UniSTSGRCh37
Build 368101,322,615 - 101,323,333RGDNCBI36
Celera897,438,810 - 97,439,528RGD
HuRef896,456,438 - 96,457,156UniSTS
SHGC-31092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,233,658 - 101,233,794UniSTSGRCh37
Build 368101,302,834 - 101,302,970RGDNCBI36
Celera897,419,031 - 97,419,167RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,436,532 - 96,436,668UniSTS
Stanford-G3 RH Map83587.0UniSTS
NCBI RH Map81085.7UniSTS
GeneMap99-G3 RH Map83677.0UniSTS
D8S1602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,253,661 - 101,254,004UniSTSGRCh37
Build 368101,322,837 - 101,323,180RGDNCBI36
Celera897,439,032 - 97,439,375RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,456,660 - 96,457,003UniSTS
Stanford-G3 RH Map83551.0UniSTS
GeneMap99-GB4 RH Map8438.29UniSTS
Whitehead-RH Map8584.3UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map81030.0UniSTS
GeneMap99-G3 RH Map83641.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:913
Count of miRNA genes:431
Interacting mature miRNAs:471
Transcripts:ENST00000251809, ENST00000388798, ENST00000519409, ENST00000519424, ENST00000520508, ENST00000520643, ENST00000523302
Prediction methods:Microtar, Miranda, 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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 257 2 135 42 477 37 365 12 190 69 485 237 16 240
Low 2181 2705 1584 579 1309 426 3312 1379 3520 349 973 1370 155 1204 1869 4 1
Below cutoff 1 282 7 2 164 2 679 802 23 1 2 5 4 1 679 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF311312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI624411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC055091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM557203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM981630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX480304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB028984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ472210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000251809   ⟹   ENSP00000251809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,158,035 - 100,241,903 (+)Ensembl
RefSeq Acc Id: ENST00000388798   ⟹   ENSP00000373450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,158,587 - 100,241,904 (+)Ensembl
RefSeq Acc Id: ENST00000519409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,240,559 - 100,259,278 (+)Ensembl
RefSeq Acc Id: ENST00000519424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,233,171 - 100,240,515 (+)Ensembl
RefSeq Acc Id: ENST00000520508   ⟹   ENSP00000428070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,158,335 - 100,194,684 (+)Ensembl
RefSeq Acc Id: ENST00000520643   ⟹   ENSP00000427716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,157,906 - 100,194,680 (+)Ensembl
RefSeq Acc Id: ENST00000523302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,213,087 - 100,231,284 (+)Ensembl
RefSeq Acc Id: NM_001374321   ⟹   NP_001361250
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,158,038 - 100,241,904 (+)NCBI
RefSeq Acc Id: NM_003114   ⟹   NP_003105
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,158,587 - 100,241,904 (+)NCBI
GRCh378101,170,263 - 101,254,132 (+)ENTREZGENE
Build 368101,239,832 - 101,323,306 (+)NCBI Archive
Celera897,355,644 - 97,439,501 (+)RGD
HuRef896,373,019 - 96,457,131 (+)ENTREZGENE
CHM1_18101,210,861 - 101,294,468 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172218   ⟹   NP_757367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,158,038 - 100,241,904 (+)NCBI
GRCh378101,170,263 - 101,254,132 (+)ENTREZGENE
Build 368101,239,439 - 101,323,306 (+)NCBI Archive
Celera897,355,644 - 97,439,501 (+)RGD
HuRef896,373,019 - 96,457,131 (+)ENTREZGENE
CHM1_18101,210,561 - 101,294,468 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517240   ⟹   XP_011515542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,158,035 - 100,241,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517241   ⟹   XP_011515543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,158,035 - 100,241,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517243   ⟹   XP_011515545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,159,020 - 100,241,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517245   ⟹   XP_011515547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,158,035 - 100,221,072 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013754   ⟹   XP_016869243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,157,869 - 100,241,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013755   ⟹   XP_016869244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,157,906 - 100,241,904 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745580
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,158,035 - 100,241,902 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745581
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,158,035 - 100,241,902 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745582
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,158,035 - 100,241,902 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745583
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,158,035 - 100,231,252 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_757367   ⟸   NM_172218
- UniProtKB: Q07617 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003105   ⟸   NM_003114
- UniProtKB: Q07617 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515543   ⟸   XM_011517241
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515542   ⟸   XM_011517240
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515547   ⟸   XM_011517245
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011515545   ⟸   XM_011517243
- Peptide Label: isoform X4
- UniProtKB: Q07617 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869243   ⟸   XM_017013754
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869244   ⟸   XM_017013755
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001361250   ⟸   NM_001374321
RefSeq Acc Id: ENSP00000373450   ⟸   ENST00000388798
RefSeq Acc Id: ENSP00000427716   ⟸   ENST00000520643
RefSeq Acc Id: ENSP00000428070   ⟸   ENST00000520508
RefSeq Acc Id: ENSP00000251809   ⟸   ENST00000251809
Protein Domains
TPR_REGION

Promoters
RGD ID:7213889
Promoter ID:EPDNEW_H12690
Type:initiation region
Name:SPAG1_1
Description:sperm associated antigen 1
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
GRCh388100,150,661 - 100,150,721EPDNEW
RGD ID:6806693
Promoter ID:HG_KWN:61802
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000365440,   NM_003114,   NM_172218,   UC003YJG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368101,239,206 - 101,240,007 (+)MPROMDB
RGD ID:6813529
Promoter ID:HG_ACW:78142
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:SPAG1.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368101,294,366 - 101,294,902 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_172218.2(SPAG1):c.2623T>C (p.Tyr875His) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000526054] Chr8:100240745 [GRCh38]
Chr8:101252973 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.1057A>G (p.Lys353Glu) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000553519] Chr8:100194229 [GRCh38]
Chr8:101206457 [GRCh37]
Chr8:8q22.2
likely benign
NM_172218.2(SPAG1):c.427-3T>C single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000551240] Chr8:100183372 [GRCh38]
Chr8:101195600 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.825C>T (p.Asn275=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000552457] Chr8:100187243 [GRCh38]
Chr8:101199471 [GRCh37]
Chr8:8q22.2
benign
NM_003114.4(SPAG1):c.1562T>C (p.Met521Thr) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000545007] Chr8:100220305 [GRCh38]
Chr8:101232533 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.4(SPAG1):c.1307C>T (p.Pro436Leu) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000543358] Chr8:100213300 [GRCh38]
Chr8:101225528 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.4(SPAG1):c.1293_1316del (p.Ala432_Gly439del) deletion Ciliary dyskinesia, primary, 28 [RCV000531025] Chr8:100213276..100213299 [GRCh38]
Chr8:101225504..101225527 [GRCh37]
Chr8:8q22.2
uncertain significance
NC_000008.11:g.100151617_100163589del deletion Ciliary dyskinesia, primary, 28 [RCV000074364]|Kartagener syndrome [RCV000190931] Chr8:100151617..100163589 [GRCh38]
Chr8:101163845..101175817 [GRCh37]
Chr8:8q22
pathogenic
NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000556639]|Epilepsy, nocturnal frontal lobe, 5 [RCV000074366]|Kartagener syndrome [RCV000190929]|Primary ciliary dyskinesia [RCV001255310] Chr8:100233436 [GRCh38]
Chr8:101245664 [GRCh37]
Chr8:8q22.2
pathogenic|likely pathogenic
NM_172218.2(SPAG1):c.2542del (p.Asp848fs) deletion Ciliary dyskinesia, primary, 28 [RCV001058984]|Epilepsy, nocturnal frontal lobe, 5 [RCV000074367] Chr8:100240661 [GRCh38]
Chr8:101252889 [GRCh37]
Chr8:8q22.2
pathogenic
GRCh38/hg38 8q22.2-22.3(chr8:100023254-101190270)x3 copy number gain See cases [RCV000050759] Chr8:100023254..101190270 [GRCh38]
Chr8:101035482..102202498 [GRCh37]
Chr8:101104658..102271674 [NCBI36]
Chr8:8q22.2-22.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_003114.4(SPAG1):c.2T>G (p.Met1Arg) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000074363] Chr8:100162282 [GRCh38]
Chr8:101174510 [GRCh37]
Chr8:8q22.2
pathogenic
NM_003114.4(SPAG1):c.679G>T (p.Glu227Ter) single nucleotide variant Epilepsy, nocturnal frontal lobe, 5 [RCV000074365] Chr8:100184711 [GRCh38]
Chr8:101196939 [GRCh37]
Chr8:8q22.2
pathogenic
NM_003114.5(SPAG1):c.600_603del (p.Thr201fs) deletion Ciliary dyskinesia, primary, 28 [RCV001202736] Chr8:100184630..100184633 [GRCh38]
Chr8:101196858..101196861 [GRCh37]
Chr8:8q22.2
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1 copy number loss See cases [RCV000137322] Chr8:99580206..101547228 [GRCh38]
Chr8:100592434..102559456 [GRCh37]
Chr8:100661610..102628632 [NCBI36]
Chr8:8q22.2-22.3
likely pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_003114.4(SPAG1):c.902_906del (p.Lys301fs) deletion Kartagener syndrome [RCV000190930] Chr8:100191455..100191459 [GRCh38]
Chr8:101203683..101203687 [GRCh37]
Chr8:8q22.2
pathogenic
NM_172218.2(SPAG1):c.1059_1060insGAC (p.Ser354_Gly355insAsp) insertion Ciliary dyskinesia, primary, 28 [RCV000205387]|not specified [RCV000242254] Chr8:100194231..100194232 [GRCh38]
Chr8:101206459..101206460 [GRCh37]
Chr8:8q22.2
benign
GRCh37/hg19 8q22.2(chr8:100871620-101253185)x3 copy number gain Ductal breast carcinoma [RCV000207177] Chr8:100871620..101253185 [GRCh37]
Chr8:8q22.2
uncertain significance
Single allele variation Kartagener syndrome [RCV000190931] Chr8:8q22.2 pathogenic
NM_172218.2(SPAG1):c.1103C>T (p.Ala368Val) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000228451] Chr8:100213096 [GRCh38]
Chr8:101225324 [GRCh37]
Chr8:8q22.2
benign|uncertain significance
NM_172218.2(SPAG1):c.639G>A (p.Lys213=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000229359] Chr8:100184671 [GRCh38]
Chr8:101196899 [GRCh37]
Chr8:8q22.2
likely benign
NM_172218.2(SPAG1):c.1360G>C (p.Glu454Gln) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000232428] Chr8:100213353 [GRCh38]
Chr8:101225581 [GRCh37]
Chr8:8q22.2
likely pathogenic|uncertain significance
NM_172218.2(SPAG1):c.1414A>G (p.Ile472Val) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000226127] Chr8:100213407 [GRCh38]
Chr8:101225635 [GRCh37]
Chr8:8q22.2
benign|likely benign
NM_172218.2(SPAG1):c.205G>A (p.Ala69Thr) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000231674] Chr8:100165878 [GRCh38]
Chr8:101178106 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.2714C>T (p.Ser905Leu) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000226642] Chr8:100240955 [GRCh38]
Chr8:101253183 [GRCh37]
Chr8:8q22.2
likely benign|conflicting interpretations of pathogenicity
NM_172218.2(SPAG1):c.957T>A (p.Val319=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000233353] Chr8:100194129 [GRCh38]
Chr8:101206357 [GRCh37]
Chr8:8q22.2
benign
NM_172218.2(SPAG1):c.1586T>C (p.Met529Thr) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000228981] Chr8:100220329 [GRCh38]
Chr8:101232557 [GRCh37]
Chr8:8q22.2
benign
NM_172218.2(SPAG1):c.1730G>A (p.Arg577Gln) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000548637] Chr8:100225214 [GRCh38]
Chr8:101237442 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.991G>A (p.Glu331Lys) single nucleotide variant not specified [RCV000241694] Chr8:100194163 [GRCh38]
Chr8:101206391 [GRCh37]
Chr8:8q22.2
benign
NM_172218.2(SPAG1):c.2330T>C (p.Met777Thr) single nucleotide variant not specified [RCV000241788] Chr8:100240452 [GRCh38]
Chr8:101252680 [GRCh37]
Chr8:8q22.2
benign
NM_172218.2(SPAG1):c.2715G>A (p.Ser905=) single nucleotide variant not specified [RCV000246772] Chr8:100240956 [GRCh38]
Chr8:101253184 [GRCh37]
Chr8:8q22.2
benign
NM_172218.2(SPAG1):c.939+13T>C single nucleotide variant not specified [RCV000249730] Chr8:100191509 [GRCh38]
Chr8:101203737 [GRCh37]
Chr8:8q22.2
benign
NM_172218.2(SPAG1):c.1097-20C>T single nucleotide variant not specified [RCV000245223] Chr8:100213070 [GRCh38]
Chr8:101225298 [GRCh37]
Chr8:8q22.2
benign
NM_172218.2(SPAG1):c.1338C>G (p.Ala446=) single nucleotide variant not specified [RCV000250182] Chr8:100213331 [GRCh38]
Chr8:101225559 [GRCh37]
Chr8:8q22.2
benign
NM_172218.2(SPAG1):c.141A>T (p.Arg47Ser) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000532381] Chr8:100165814 [GRCh38]
Chr8:101178042 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.476C>T (p.Ala159Val) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000527233] Chr8:100183424 [GRCh38]
Chr8:101195652 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.1119C>T (p.Ala373=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000529368] Chr8:100213112 [GRCh38]
Chr8:101225340 [GRCh37]
Chr8:8q22.2
likely benign
NM_003114.4(SPAG1):c.2256G>C (p.Glu752Asp) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000549705] Chr8:100239380 [GRCh38]
Chr8:101251608 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.4(SPAG1):c.1271_1273CGG[6] (p.Ala428dup) microsatellite Ciliary dyskinesia, primary, 28 [RCV000554852] Chr8:100213262..100213263 [GRCh38]
Chr8:101225490..101225491 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.648A>C (p.Gly216=) single nucleotide variant not provided [RCV000539976] Chr8:100184680 [GRCh38]
Chr8:101196908 [GRCh37]
Chr8:8q22.2
likely benign
NM_172218.2(SPAG1):c.1713G>A (p.Leu571=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000537986] Chr8:100225197 [GRCh38]
Chr8:101237425 [GRCh37]
Chr8:8q22.2
likely benign
NM_172218.2(SPAG1):c.1156C>T (p.Gln386Ter) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000541958] Chr8:100213149 [GRCh38]
Chr8:101225377 [GRCh37]
Chr8:8q22.2
pathogenic
NM_172218.2(SPAG1):c.311C>A (p.Ser104Ter) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000538474] Chr8:100177826 [GRCh38]
Chr8:101190054 [GRCh37]
Chr8:8q22.2
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_172218.2(SPAG1):c.877C>T (p.Arg293Trp) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000541180] Chr8:100191434 [GRCh38]
Chr8:101203662 [GRCh37]
Chr8:8q22.2
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
NM_172218.2(SPAG1):c.2515A>T (p.Met839Leu) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000466776] Chr8:100240637 [GRCh38]
Chr8:101252865 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.1229C>G (p.Pro410Arg) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000459457] Chr8:100213222 [GRCh38]
Chr8:101225450 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.1226C>G (p.Thr409Ser) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000463219] Chr8:100213219 [GRCh38]
Chr8:101225447 [GRCh37]
Chr8:8q22.2
likely benign|uncertain significance
NM_172218.2(SPAG1):c.474C>T (p.Tyr158=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000467020] Chr8:100183422 [GRCh38]
Chr8:101195650 [GRCh37]
Chr8:8q22.2
benign
NM_172218.2(SPAG1):c.734A>G (p.Tyr245Cys) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000470697] Chr8:100187152 [GRCh38]
Chr8:101199380 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.4(SPAG1):c.1954A>T (p.Ile652Phe) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000470954] Chr8:100231254 [GRCh38]
Chr8:101243482 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.301-8A>G single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000474652] Chr8:100177808 [GRCh38]
Chr8:101190036 [GRCh37]
Chr8:8q22.2
likely benign
NM_172218.2(SPAG1):c.669A>G (p.Gly223=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000474717] Chr8:100184701 [GRCh38]
Chr8:101196929 [GRCh37]
Chr8:8q22.2
benign
NM_172218.2(SPAG1):c.2625C>T (p.Tyr875=) single nucleotide variant not provided [RCV000460115] Chr8:100240747 [GRCh38]
Chr8:101252975 [GRCh37]
Chr8:8q22.2
likely benign
NM_172218.2(SPAG1):c.1536-9C>G single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000463898] Chr8:100220270 [GRCh38]
Chr8:101232498 [GRCh37]
Chr8:8q22.2
benign
NC_000008.11:g.(?_100162279)_(100162420_?)del deletion Ciliary dyskinesia, primary, 28 [RCV000463930] Chr8:100162279..100162420 [GRCh38]
Chr8:101174507..101174648 [GRCh37]
Chr8:8q22.2
pathogenic
NM_172218.2(SPAG1):c.1542G>A (p.Leu514=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000460373] Chr8:100220285 [GRCh38]
Chr8:101232513 [GRCh37]
Chr8:8q22.2
benign
NM_003114.4(SPAG1):c.2707G>A (p.Asp903Asn) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000803468]|not specified [RCV000455105] Chr8:100240948 [GRCh38]
Chr8:101253176 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.319A>T (p.Lys107Ter) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000468151] Chr8:100177834 [GRCh38]
Chr8:101190062 [GRCh37]
Chr8:8q22.2
pathogenic
NM_172218.2(SPAG1):c.1042G>A (p.Glu348Lys) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000457444] Chr8:100194214 [GRCh38]
Chr8:101206442 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.140+1G>A single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000468769] Chr8:100162421 [GRCh38]
Chr8:101174649 [GRCh37]
Chr8:8q22.2
likely pathogenic
NM_003114.5(SPAG1):c.2330_2331inv (p.Met777Thr) inversion Ciliary dyskinesia, primary, 28 [RCV000461653] Chr8:100240452..100240453 [GRCh38]
Chr8:101252680..101252681 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.713C>T (p.Ala238Val) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000476762] Chr8:100187131 [GRCh38]
Chr8:101199359 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.2769G>A (p.Gln923=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000476962] Chr8:100241010 [GRCh38]
Chr8:101253238 [GRCh37]
Chr8:8q22.2
likely benign
NM_172218.2(SPAG1):c.1584G>A (p.Ala528=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000465901] Chr8:100220327 [GRCh38]
Chr8:101232555 [GRCh37]
Chr8:8q22.2
benign
NM_172218.2(SPAG1):c.596G>C (p.Gly199Ala) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000469431] Chr8:100184628 [GRCh38]
Chr8:101196856 [GRCh37]
Chr8:8q22.2
benign
NM_003114.4(SPAG1):c.325_326del (p.Glu109fs) deletion Ciliary dyskinesia, primary, 28 [RCV000458533] Chr8:100177839..100177840 [GRCh38]
Chr8:101190067..101190068 [GRCh37]
Chr8:8q22.2
pathogenic
NM_172218.2(SPAG1):c.2265A>T (p.Lys755Asn) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000469814]|Primary ciliary dyskinesia [RCV001255300] Chr8:100239389 [GRCh38]
Chr8:101251617 [GRCh37]
Chr8:8q22.2
likely benign|uncertain significance
NM_172218.2(SPAG1):c.1519dup (p.Ile507fs) duplication Ciliary dyskinesia, primary, 28 [RCV000477336] Chr8:100213901..100213902 [GRCh38]
Chr8:101226129..101226130 [GRCh37]
Chr8:8q22.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NC_000008.11:g.(?_100162261)_(100162440_?)del deletion Ciliary dyskinesia, primary, 28 [RCV000540899] Chr8:100162261..100162440 [GRCh38]
Chr8:8q22.2
pathogenic
NM_172218.2(SPAG1):c.1679G>A (p.Ser560Asn) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000557268] Chr8:100220422 [GRCh38]
Chr8:101232650 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.855A>T (p.Thr285=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000533289] Chr8:100191412 [GRCh38]
Chr8:101203640 [GRCh37]
Chr8:8q22.2
likely benign
NM_172218.2(SPAG1):c.2479C>T (p.His827Tyr) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000537090] Chr8:100240601 [GRCh38]
Chr8:101252829 [GRCh37]
Chr8:8q22.2
likely benign
NM_172218.2(SPAG1):c.419T>C (p.Val140Ala) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000651830] Chr8:100177934 [GRCh38]
Chr8:101190162 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.2399T>C (p.Ile800Thr) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000651831] Chr8:100240521 [GRCh38]
Chr8:101252749 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.4(SPAG1):c.560A>C (p.His187Pro) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000651833] Chr8:100184027 [GRCh38]
Chr8:101196255 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.2728A>C (p.Asn910His) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000651834] Chr8:100240969 [GRCh38]
Chr8:101253197 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.413T>C (p.Leu138Pro) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000651835] Chr8:100177928 [GRCh38]
Chr8:101190156 [GRCh37]
Chr8:8q22.2
likely benign|conflicting interpretations of pathogenicity
NM_172218.2(SPAG1):c.1759C>T (p.Pro587Ser) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000651836] Chr8:100225243 [GRCh38]
Chr8:101237471 [GRCh37]
Chr8:8q22.2
benign
NM_172218.2(SPAG1):c.2598C>T (p.Pro866=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000651837] Chr8:100240720 [GRCh38]
Chr8:101252948 [GRCh37]
Chr8:8q22.2
likely benign
NM_172218.2(SPAG1):c.2601A>G (p.Ser867=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000651838] Chr8:100240723 [GRCh38]
Chr8:101252951 [GRCh37]
Chr8:8q22.2
likely benign
NM_003114.4(SPAG1):c.1864dup (p.Thr622fs) duplication Ciliary dyskinesia, primary, 28 [RCV000651832] Chr8:100231158..100231159 [GRCh38]
Chr8:101243386..101243387 [GRCh37]
Chr8:8q22.2
pathogenic
NM_172218.2(SPAG1):c.132C>T (p.Cys44=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000560449] Chr8:100162412 [GRCh38]
Chr8:101174640 [GRCh37]
Chr8:8q22.2
likely benign
NM_003114.4(SPAG1):c.897_901del (p.Lys301fs) deletion Ciliary dyskinesia, primary, 28 [RCV001270130]|not provided [RCV000515010] Chr8:100191454..100191458 [GRCh38]
Chr8:101203682..101203686 [GRCh37]
Chr8:8q22.2
pathogenic|likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_172218.2(SPAG1):c.842G>A (p.Arg281His) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000699381] Chr8:100191399 [GRCh38]
Chr8:101203627 [GRCh37]
Chr8:8q22.2
uncertain significance
GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1 copy number loss not provided [RCV000683023] Chr8:100551211..103676738 [GRCh37]
Chr8:8q22.2-22.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
NM_003114.4(SPAG1):c.2084A>G (p.Tyr695Cys) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000699723] Chr8:100233506 [GRCh38]
Chr8:101245734 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.1084G>A (p.Gly362Ser) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000694692] Chr8:100194256 [GRCh38]
Chr8:101206484 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.4(SPAG1):c.890A>G (p.Glu297Gly) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000687256] Chr8:100191447 [GRCh38]
Chr8:101203675 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.4(SPAG1):c.2717A>G (p.Asp906Gly) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000690577] Chr8:100240958 [GRCh38]
Chr8:101253186 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.520G>A (p.Asp174Asn) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000694213] Chr8:100183987 [GRCh38]
Chr8:101196215 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.4(SPAG1):c.422G>A (p.Gly141Asp) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000706467] Chr8:100177937 [GRCh38]
Chr8:101190165 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.1307C>A (p.Pro436Gln) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000690010] Chr8:100213300 [GRCh38]
Chr8:101225528 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.902A>G (p.Lys301Arg) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000703171] Chr8:100191459 [GRCh38]
Chr8:101203687 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.2512C>T (p.Pro838Ser) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000694378] Chr8:100240634 [GRCh38]
Chr8:101252862 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.977C>T (p.Ser326Phe) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000703348] Chr8:100194149 [GRCh38]
Chr8:101206377 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.4(SPAG1):c.2083_2084TA[1] (p.Tyr695_Arg696delinsTer) microsatellite Ciliary dyskinesia, primary, 28 [RCV000697113] Chr8:100233505..100233506 [GRCh38]
Chr8:101245733..101245734 [GRCh37]
Chr8:8q22.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003114.5(SPAG1):c.876C>T (p.Leu292=) single nucleotide variant not provided [RCV000976959] Chr8:100191433 [GRCh38]
Chr8:101203661 [GRCh37]
Chr8:8q22.2
likely benign
NM_003114.5(SPAG1):c.1500A>G (p.Glu500=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000871849] Chr8:100213883 [GRCh38]
Chr8:101226111 [GRCh37]
Chr8:8q22.2
likely benign
NM_003114.5(SPAG1):c.1338C>T (p.Ala446=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000866933] Chr8:100213331 [GRCh38]
Chr8:101225559 [GRCh37]
Chr8:8q22.2
likely benign
NM_003114.5(SPAG1):c.1914C>T (p.Asn638=) single nucleotide variant not provided [RCV000928237] Chr8:100231214 [GRCh38]
Chr8:101243442 [GRCh37]
Chr8:8q22.2
likely benign
NM_003114.5(SPAG1):c.832+9del deletion Ciliary dyskinesia, primary, 28 [RCV000864666] Chr8:100187259 [GRCh38]
Chr8:101199487 [GRCh37]
Chr8:8q22.2
benign
NM_003114.5(SPAG1):c.1193G>A (p.Arg398Gln) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001053211] Chr8:100213186 [GRCh38]
Chr8:101225414 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2407C>T (p.Pro803Ser) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001053381] Chr8:100240529 [GRCh38]
Chr8:101252757 [GRCh37]
Chr8:8q22.2
uncertain significance
NC_000008.11:g.(?_100225153)_(100231308_?)del deletion Ciliary dyskinesia, primary, 28 [RCV001033872] Chr8:101237381..101243536 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1637_1638del (p.Thr546fs) deletion Ciliary dyskinesia, primary, 28 [RCV001052572] Chr8:100220379..100220380 [GRCh38]
Chr8:101232607..101232608 [GRCh37]
Chr8:8q22.2
pathogenic
NM_003114.5(SPAG1):c.489-7A>T single nucleotide variant not provided [RCV000868867] Chr8:100183949 [GRCh38]
Chr8:101196177 [GRCh37]
Chr8:8q22.2
likely benign
NM_003114.5(SPAG1):c.398G>A (p.Gly133Asp) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000863985] Chr8:100177913 [GRCh38]
Chr8:101190141 [GRCh37]
Chr8:8q22.2
likely benign
NM_003114.5(SPAG1):c.1311C>T (p.Gly437=) single nucleotide variant not provided [RCV000938846] Chr8:100213304 [GRCh38]
Chr8:101225532 [GRCh37]
Chr8:8q22.2
likely benign
NM_172218.2(SPAG1):c.1271C>G (p.Ala424Gly) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000816330] Chr8:100213264 [GRCh38]
Chr8:101225492 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.2752C>T (p.Gln918Ter) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000819531] Chr8:100240993 [GRCh38]
Chr8:101253221 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.2633A>C (p.Lys878Thr) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000817462] Chr8:100240755 [GRCh38]
Chr8:101252983 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.2189A>C (p.Glu730Ala) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000796278] Chr8:100239313 [GRCh38]
Chr8:101251541 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.878G>A (p.Arg293Gln) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000803072] Chr8:100191435 [GRCh38]
Chr8:101203663 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.1663C>T (p.Gln555Ter) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000802804] Chr8:100220406 [GRCh38]
Chr8:101232634 [GRCh37]
Chr8:8q22.2
pathogenic
NM_172218.2(SPAG1):c.2386G>A (p.Glu796Lys) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000809782] Chr8:100240508 [GRCh38]
Chr8:101252736 [GRCh37]
Chr8:8q22.2
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_172218.2(SPAG1):c.105T>G (p.Asp35Glu) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000815826] Chr8:100162385 [GRCh38]
Chr8:101174613 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.146G>A (p.Gly49Asp) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000821827] Chr8:100165819 [GRCh38]
Chr8:101178047 [GRCh37]
Chr8:8q22.2
uncertain significance
NC_000008.11:g.(?_100187100)_(100187270_?)del deletion Ciliary dyskinesia, primary, 28 [RCV000824659] Chr8:100187100..100187270 [GRCh38]
Chr8:101199328..101199498 [GRCh37]
Chr8:8q22.2
pathogenic
NM_172218.2(SPAG1):c.1848C>T (p.Gly616=) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV000812249] Chr8:100225332 [GRCh38]
Chr8:101237560 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_172218.2(SPAG1):c.427-1065_630del deletion Ciliary dyskinesia, primary, 28 [RCV000820222] Chr8:100182304..100184656 [GRCh38]
Chr8:101194532..101196884 [GRCh37]
Chr8:8q22.2
pathogenic
GRCh37/hg19 8q22.2(chr8:100791383-101278033)x3 copy number gain not provided [RCV001006126] Chr8:100791383..101278033 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.89T>C (p.Ile30Thr) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001067622] Chr8:100162369 [GRCh38]
Chr8:101174597 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2224G>A (p.Asp742Asn) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001247108] Chr8:100239348 [GRCh38]
Chr8:101251576 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1373G>T (p.Ser458Ile) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001216127] Chr8:100213366 [GRCh38]
Chr8:101225594 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1561A>G (p.Met521Val) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001217154] Chr8:100220304 [GRCh38]
Chr8:101232532 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1252A>G (p.Ser418Gly) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001225370] Chr8:100213245 [GRCh38]
Chr8:101225473 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1936T>C (p.Tyr646His) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001207668] Chr8:100231236 [GRCh38]
Chr8:101243464 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2419T>C (p.Tyr807His) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001230518] Chr8:100240541 [GRCh38]
Chr8:101252769 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1096A>T (p.Lys366Ter) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001204513] Chr8:100194268 [GRCh38]
Chr8:101206496 [GRCh37]
Chr8:8q22.2
pathogenic
NM_003114.5(SPAG1):c.2418C>T (p.Ala806=) single nucleotide variant not provided [RCV000942725] Chr8:100240540 [GRCh38]
Chr8:101252768 [GRCh37]
Chr8:8q22.2
likely benign
NM_003114.5(SPAG1):c.1083C>A (p.Gly361=) single nucleotide variant not provided [RCV000939846] Chr8:100194255 [GRCh38]
Chr8:101206483 [GRCh37]
Chr8:8q22.2
likely benign
NM_003114.5(SPAG1):c.1961A>G (p.Asn654Ser) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001230010] Chr8:100231261 [GRCh38]
Chr8:101243489 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.798A>C (p.Glu266Asp) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001212896] Chr8:100187216 [GRCh38]
Chr8:101199444 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1924G>A (p.Ala642Thr) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001036075] Chr8:100231224 [GRCh38]
Chr8:101243452 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2396C>T (p.Pro799Leu) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001245299] Chr8:100240518 [GRCh38]
Chr8:101252746 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1467A>C (p.Leu489Phe) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001227547] Chr8:100213850 [GRCh38]
Chr8:101226078 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.845G>A (p.Arg282His) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001241200] Chr8:100191402 [GRCh38]
Chr8:101203630 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2212C>A (p.Leu738Ile) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001216509] Chr8:100239336 [GRCh38]
Chr8:101251564 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2726del (p.Asn909fs) deletion Ciliary dyskinesia, primary, 28 [RCV001237041] Chr8:100240965 [GRCh38]
Chr8:101253193 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.762del (p.Lys254fs) deletion Ciliary dyskinesia, primary, 28 [RCV001234647] Chr8:100187178 [GRCh38]
Chr8:101199406 [GRCh37]
Chr8:8q22.2
pathogenic
NM_003114.5(SPAG1):c.662A>G (p.Asn221Ser) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001048079] Chr8:100184694 [GRCh38]
Chr8:101196922 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.496G>A (p.Val166Met) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001202454] Chr8:100183963 [GRCh38]
Chr8:101196191 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1282_1294del (p.Ala428fs) deletion Ciliary dyskinesia, primary, 28 [RCV001052571] Chr8:100213265..100213277 [GRCh38]
Chr8:101225493..101225505 [GRCh37]
Chr8:8q22.2
pathogenic
NM_003114.5(SPAG1):c.1841A>C (p.Gln614Pro) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001053872] Chr8:100225325 [GRCh38]
Chr8:101237553 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.239C>T (p.Pro80Leu) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001233195] Chr8:100165912 [GRCh38]
Chr8:101178140 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1762G>C (p.Ala588Pro) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001070164] Chr8:100225246 [GRCh38]
Chr8:101237474 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2446C>T (p.Leu816Phe) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001053226] Chr8:100240568 [GRCh38]
Chr8:101252796 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.401C>G (p.Ser134Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001255266] Chr8:100177916 [GRCh38]
Chr8:101190144 [GRCh37]
Chr8:8q22.2
likely pathogenic
NM_003114.5(SPAG1):c.208C>G (p.Pro70Ala) single nucleotide variant Primary ciliary dyskinesia [RCV001255297] Chr8:100165881 [GRCh38]
Chr8:101178109 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1960A>G (p.Asn654Asp) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001308153] Chr8:100231260 [GRCh38]
Chr8:101243488 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1406C>G (p.Ser469Trp) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001317750] Chr8:100213399 [GRCh38]
Chr8:101225627 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2649+1G>A single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001337055] Chr8:100240772 [GRCh38]
Chr8:101253000 [GRCh37]
Chr8:8q22.2
pathogenic
NM_003114.5(SPAG1):c.2533C>G (p.Leu845Val) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001351330] Chr8:100240655 [GRCh38]
Chr8:101252883 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1562T>G (p.Met521Arg) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001331022] Chr8:100220305 [GRCh38]
Chr8:101232533 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1591T>C (p.Tyr531His) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001341313] Chr8:100220334 [GRCh38]
Chr8:101232562 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.547A>G (p.Ile183Val) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001296836] Chr8:100184014 [GRCh38]
Chr8:101196242 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2021A>G (p.Glu674Gly) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001300241] Chr8:100233443 [GRCh38]
Chr8:101245671 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2392C>T (p.Leu798Phe) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001342360] Chr8:100240514 [GRCh38]
Chr8:101252742 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2473T>C (p.Cys825Arg) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001321918] Chr8:100240595 [GRCh38]
Chr8:101252823 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1201A>G (p.Arg401Gly) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001296132] Chr8:100213194 [GRCh38]
Chr8:101225422 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2204C>T (p.Thr735Ile) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001307640] Chr8:100239328 [GRCh38]
Chr8:101251556 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.1189A>C (p.Lys397Gln) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001300402] Chr8:100213182 [GRCh38]
Chr8:101225410 [GRCh37]
Chr8:8q22.2
uncertain significance
NM_003114.5(SPAG1):c.2513C>T (p.Pro838Leu) single nucleotide variant Ciliary dyskinesia, primary, 28 [RCV001339354] Chr8:100240635 [GRCh38]
Chr8:101252863 [GRCh37]
Chr8:8q22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11212 AgrOrtholog
COSMIC SPAG1 COSMIC
Ensembl Genes ENSG00000104450 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000251809 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000373450 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427716 UniProtKB/Swiss-Prot
  ENSP00000428070 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000251809 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000388798 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520508 UniProtKB/Swiss-Prot
  ENST00000520643 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104450 GTEx
HGNC ID HGNC:11212 ENTREZGENE
Human Proteome Map SPAG1 Human Proteome Map
InterPro RPAP3-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6674 UniProtKB/Swiss-Prot
NCBI Gene 6674 ENTREZGENE
OMIM 603395 OMIM
  615505 OMIM
Pfam RPAP3_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36049 PharmGKB
PROSITE TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9D8_HUMAN UniProtKB/TrEMBL
  A0A024R9G1_HUMAN UniProtKB/TrEMBL
  Q07617 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NP70 UniProtKB/Swiss-Prot
  B3KQ58 UniProtKB/Swiss-Prot
  G3XAM3 UniProtKB/Swiss-Prot
  Q7Z5G1 UniProtKB/Swiss-Prot