DNAH6 (dynein axonemal heavy chain 6) - Rat Genome Database

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Gene: DNAH6 (dynein axonemal heavy chain 6) Homo sapiens
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Symbol: DNAH6
Name: dynein axonemal heavy chain 6
RGD ID: 1347757
HGNC Page HGNC:2951
Description: Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Predicted to be involved in cilium movement involved in cell motility. Predicted to be located in axoneme and microtubule. Predicted to be part of dynein complex. Predicted to be active in 9+2 motile cilium.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: axonemal beta dynein heavy chain 6; ciliary dynein heavy chain 6; DKFZp667K087; Dnahc6; DNHL1; dynein heavy chain 6, axonemal; dynein heavy chain-like 1; dynein, axonemal, heavy chain 6; dynein, axonemal, heavy polypeptide 6; FLJ23529; FLJ37357; HL-2; HL2; hypothetical protein flj37357; KIAA1697; LOC200383; MGC132544; MGC141984; MGC177197; similar to Dynein heavy chain at 16F
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
GRCh38284,459,572 - 84,819,589 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl284,516,455 - 84,819,589 (+)EnsemblGRCh38hg38GRCh38
GRCh37284,743,622 - 85,046,713 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36284,743,579 - 85,046,713 (+)NCBINCBI36Build 36hg18NCBI36
Build 34284,763,682 - 84,773,351NCBI
Celera284,572,707 - 84,875,501 (+)NCBICelera
Cytogenetic Map2p11.2NCBI
HuRef284,639,804 - 84,942,713 (+)NCBIHuRef
CHM1_1284,673,549 - 84,976,538 (+)NCBICHM1_1
T2T-CHM13v2.0284,461,074 - 84,821,356 (+)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Metabotropic glutamate receptor 5 knockout promotes motor and biochemical alterations in a mouse model of Huntington's disease. Ribeiro FM, etal., Hum Mol Genet. 2014 Apr 15;23(8):2030-42. doi: 10.1093/hmg/ddt598. Epub 2013 Nov 26.
4. Multiple mouse chromosomal loci for dynein-based motility. Vaughan KT, etal., Genomics 1996 Aug 15;36(1):29-38.
Additional References at PubMed
PMID:11175280   PMID:11181995   PMID:11214970   PMID:12477932   PMID:14702039   PMID:15937072   PMID:21873635   PMID:23234452   PMID:24515614   PMID:25108383   PMID:26167880   PMID:26460568  
PMID:26918822   PMID:29019003   PMID:29323929   PMID:30021884   PMID:31676830   PMID:32393512   PMID:34349018   PMID:35235311   PMID:35271311   PMID:35575683   PMID:37071682   PMID:37424858  
PMID:37594300   PMID:37788672   PMID:38334954   PMID:39056782  


Genomics

Comparative Map Data
DNAH6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38284,459,572 - 84,819,589 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl284,516,455 - 84,819,589 (+)EnsemblGRCh38hg38GRCh38
GRCh37284,743,622 - 85,046,713 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36284,743,579 - 85,046,713 (+)NCBINCBI36Build 36hg18NCBI36
Build 34284,763,682 - 84,773,351NCBI
Celera284,572,707 - 84,875,501 (+)NCBICelera
Cytogenetic Map2p11.2NCBI
HuRef284,639,804 - 84,942,713 (+)NCBIHuRef
CHM1_1284,673,549 - 84,976,538 (+)NCBICHM1_1
T2T-CHM13v2.0284,461,074 - 84,821,356 (+)NCBIT2T-CHM13v2.0
Dnah6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39672,994,586 - 73,199,327 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl672,994,589 - 73,198,634 (-)EnsemblGRCm39 Ensembl
GRCm38673,017,603 - 73,222,227 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl673,017,606 - 73,221,651 (-)EnsemblGRCm38mm10GRCm38
MGSCv37672,967,600 - 73,171,625 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36672,947,115 - 73,088,822 (-)NCBIMGSCv36mm8
Celera675,088,656 - 75,275,780 (-)NCBICelera
Cytogenetic Map6C1NCBI
cM Map632.37NCBI
Dnah6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84106,622,235 - 106,842,461 (-)NCBIGRCr8
mRatBN7.24105,064,123 - 105,284,361 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4105,064,125 - 105,284,376 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.04100,936,834 - 101,157,511 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4100,936,978 - 101,156,576 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04165,697,703 - 165,914,236 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44106,349,760 - 106,547,100 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14106,703,955 - 106,715,999 (-)NCBI
Celera494,213,584 - 94,426,027 (-)NCBICelera
Cytogenetic Map4q32NCBI
Dnah6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554242,575,496 - 2,787,739 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554242,575,333 - 2,788,742 (-)NCBIChiLan1.0ChiLan1.0
DNAH6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21241,557,957 - 41,861,436 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A41,560,721 - 41,864,200 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A84,569,813 - 84,873,380 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A86,128,375 - 86,431,912 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A86,129,741 - 86,431,912 (+)Ensemblpanpan1.1panPan2
DNAH6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11740,134,143 - 40,366,419 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1740,134,493 - 40,366,442 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1739,806,507 - 40,046,379 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01740,941,270 - 41,174,259 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1740,941,281 - 41,173,381 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11740,010,622 - 40,250,862 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01740,081,251 - 40,313,903 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01740,480,207 - 40,715,057 (-)NCBIUU_Cfam_GSD_1.0
Dnah6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024406292578,011 - 840,475 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366503,343,654 - 3,604,573 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366503,342,351 - 3,604,929 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNAH6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl359,859,863 - 60,114,365 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1359,859,858 - 60,114,274 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2362,982,989 - 63,131,658 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DNAH6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11422,357,139 - 22,712,614 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1422,357,102 - 22,659,471 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604589,735,458 - 90,058,146 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnah6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474918,268,110 - 18,506,625 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474918,267,959 - 18,516,919 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNAH6
459 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001370.1(DNAH6):c.4463C>T (p.Ala1488Val) single nucleotide variant Malignant melanoma [RCV000065701] Chr2:84625011 [GRCh38]
Chr2:84852135 [GRCh37]
Chr2:84705646 [NCBI36]
Chr2:2p11.2
not provided
NM_001370.1(DNAH6):c.4583G>A (p.Arg1528Gln) single nucleotide variant Malignant melanoma [RCV000065702] Chr2:84634571 [GRCh38]
Chr2:84861695 [GRCh37]
Chr2:84715206 [NCBI36]
Chr2:2p11.2
not provided
NM_001370.1(DNAH6):c.6064G>A (p.Asp2022Asn) single nucleotide variant Malignant melanoma [RCV000065703] Chr2:84659149 [GRCh38]
Chr2:84886273 [GRCh37]
Chr2:84739784 [NCBI36]
Chr2:2p11.2
not provided
NM_001370.1(DNAH6):c.6572G>A (p.Gly2191Glu) single nucleotide variant Malignant melanoma [RCV000065704] Chr2:84672444 [GRCh38]
Chr2:84899568 [GRCh37]
Chr2:84753079 [NCBI36]
Chr2:2p11.2
not provided
NM_001370.1(DNAH6):c.7884A>C (p.Glu2628Asp) single nucleotide variant Malignant melanoma [RCV000065705] Chr2:84701162 [GRCh38]
Chr2:84928286 [GRCh37]
Chr2:84781797 [NCBI36]
Chr2:2p11.2
not provided
NM_001370.1(DNAH6):c.8084G>A (p.Gly2695Asp) single nucleotide variant Malignant melanoma [RCV000065706] Chr2:84703417 [GRCh38]
Chr2:84930541 [GRCh37]
Chr2:84784052 [NCBI36]
Chr2:2p11.2
not provided
NM_001370.1(DNAH6):c.8721C>T (p.Ala2907=) single nucleotide variant Malignant melanoma [RCV000065707] Chr2:84705741 [GRCh38]
Chr2:84932865 [GRCh37]
Chr2:84786376 [NCBI36]
Chr2:2p11.2
not provided
NM_001370.1(DNAH6):c.10888C>T (p.Arg3630Ter) single nucleotide variant Malignant melanoma [RCV000065708] Chr2:84784745 [GRCh38]
Chr2:85011869 [GRCh37]
Chr2:84865380 [NCBI36]
Chr2:2p11.2
not provided
NM_001370.1(DNAH6):c.11566G>A (p.Glu3856Lys) single nucleotide variant Malignant melanoma [RCV000065709] Chr2:84805749 [GRCh38]
Chr2:85032873 [GRCh37]
Chr2:84886384 [NCBI36]
Chr2:2p11.2
not provided
NM_001370.1(DNAH6):c.11986G>A (p.Gly3996Arg) single nucleotide variant Malignant melanoma [RCV000065710] Chr2:84813118 [GRCh38]
Chr2:85040242 [GRCh37]
Chr2:84893753 [NCBI36]
Chr2:2p11.2
not provided
NM_001370.1(DNAH6):c.12163G>A (p.Glu4055Lys) single nucleotide variant Malignant melanoma [RCV000065711] Chr2:84815873 [GRCh38]
Chr2:85042997 [GRCh37]
Chr2:84896508 [NCBI36]
Chr2:2p11.2
not provided
NM_001370.1(DNAH6):c.399+867A>G single nucleotide variant Lung cancer [RCV000092511] Chr2:84526605 [GRCh38]
Chr2:84753729 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.1(DNAH6):c.2482-2045G>T single nucleotide variant Lung cancer [RCV000092512] Chr2:84586781 [GRCh38]
Chr2:84813905 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.1(DNAH6):c.10513-2540A>G single nucleotide variant Lung cancer [RCV000092513] Chr2:84760215 [GRCh38]
Chr2:84987339 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3167A>T (p.Asp1056Val) single nucleotide variant not provided [RCV000144674] Chr2:84605585 [GRCh38]
Chr2:84832709 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3 copy number gain See cases [RCV000134786] Chr2:77025216..90282666 [GRCh38]
Chr2:77252342..91619262 [GRCh37]
Chr2:77105850..90982989 [NCBI36]
Chr2:2p12-11.2
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2
pathogenic
NM_001370.2(DNAH6):c.7649T>C (p.Val2550Ala) single nucleotide variant DNAH6-related disorder [RCV003972695]|not provided [RCV001613268]|not specified [RCV000454467] Chr2:84697699 [GRCh38]
Chr2:84924823 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11359+5A>G single nucleotide variant DNAH6-related disorder [RCV003970258]|not provided [RCV001721491]|not specified [RCV000454512] Chr2:84796430 [GRCh38]
Chr2:85023554 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.421G>A (p.Val141Met) single nucleotide variant not provided [RCV001613267]|not specified [RCV000454731] Chr2:84528925 [GRCh38]
Chr2:84756049 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.1818C>A (p.Ala606=) single nucleotide variant not provided [RCV001637020]|not specified [RCV000454775] Chr2:84573481 [GRCh38]
Chr2:84800605 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4611C>T (p.Ile1537=) single nucleotide variant DNAH6-related disorder [RCV003972692]|not provided [RCV001643149]|not specified [RCV000454821] Chr2:84634599 [GRCh38]
Chr2:84861723 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.6372A>G (p.Leu2124=) single nucleotide variant not provided [RCV001672760]|not specified [RCV000454860] Chr2:84670393 [GRCh38]
Chr2:84897517 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.8692G>A (p.Val2898Ile) single nucleotide variant not provided [RCV001692107]|not specified [RCV000455141] Chr2:84705712 [GRCh38]
Chr2:84932836 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11430C>T (p.Ile3810=) single nucleotide variant DNAH6-related disorder [RCV003972697]|not provided [RCV001692108]|not specified [RCV000455176] Chr2:84797607 [GRCh38]
Chr2:85024731 [GRCh37]
Chr2:2p11.2
benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001370.2(DNAH6):c.786G>A (p.Leu262=) single nucleotide variant not provided [RCV001672759]|not specified [RCV000455398] Chr2:84544356 [GRCh38]
Chr2:84771480 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2547A>G (p.Gln849=) single nucleotide variant DNAH6-related disorder [RCV003970257]|not provided [RCV001683480]|not specified [RCV000455440] Chr2:84588891 [GRCh38]
Chr2:84816015 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.5081G>C (p.Gly1694Ala) single nucleotide variant DNAH6-related disorder [RCV003972693]|not provided [RCV001618688]|not specified [RCV000455487] Chr2:84653321 [GRCh38]
Chr2:84880445 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7353A>G (p.Thr2451=) single nucleotide variant DNAH6-related disorder [RCV003972694]|not provided [RCV001692106]|not specified [RCV000455541] Chr2:84694309 [GRCh38]
Chr2:84921433 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.9753G>A (p.Leu3251=) single nucleotide variant DNAH6-related disorder [RCV003972696]|not provided [RCV001643151]|not specified [RCV000455597] Chr2:84718345 [GRCh38]
Chr2:84945469 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.10233C>G (p.Pro3411=) single nucleotide variant DNAH6-related disorder [RCV003970259]|not provided [RCV000883038]|not specified [RCV000455888] Chr2:84733470 [GRCh38]
Chr2:84960594 [GRCh37]
Chr2:2p11.2
benign|likely benign
NM_001370.2(DNAH6):c.6356A>G (p.Tyr2119Cys) single nucleotide variant not provided [RCV001643150]|not specified [RCV000455936] Chr2:84670377 [GRCh38]
Chr2:84897501 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4354-15C>T single nucleotide variant not provided [RCV001643148]|not specified [RCV000455991] Chr2:84624887 [GRCh38]
Chr2:84852011 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.873C>T (p.Ser291=) single nucleotide variant not provided [RCV001537179]|not specified [RCV000456050] Chr2:84544443 [GRCh38]
Chr2:84771567 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.9874C>T (p.Arg3292Cys) single nucleotide variant not provided [RCV000505817] Chr2:84722706 [GRCh38]
Chr2:84949830 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1 copy number loss See cases [RCV000510763] Chr2:74365484..89129064 [GRCh37]
Chr2:2p13.1-11.2
pathogenic
NM_001370.2(DNAH6):c.9426A>T (p.Gln3142His) single nucleotide variant not specified [RCV004315924] Chr2:84713142 [GRCh38]
Chr2:84940266 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6251A>G (p.Lys2084Arg) single nucleotide variant not specified [RCV004324122] Chr2:84669455 [GRCh38]
Chr2:84896579 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.869G>A (p.Arg290His) single nucleotide variant not specified [RCV004293376] Chr2:84544439 [GRCh38]
Chr2:84771563 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7973G>A (p.Arg2658Lys) single nucleotide variant not specified [RCV004304861] Chr2:84701251 [GRCh38]
Chr2:84928375 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3 copy number gain not provided [RCV000682150] Chr2:82517612..86262705 [GRCh37]
Chr2:2p12-11.2
uncertain significance
GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1 copy number loss not provided [RCV000682167] Chr2:74527522..89125488 [GRCh37]
Chr2:2p13.1-11.2
pathogenic
Single allele duplication not provided [RCV000677942] Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2
pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p11.2(chr2:85015517-85068632)x1 copy number loss not provided [RCV000753042] Chr2:85015517..85068632 [GRCh37]
Chr2:2p11.2
benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001370.2(DNAH6):c.2891G>A (p.Arg964Lys) single nucleotide variant not provided [RCV004812852] Chr2:84604361 [GRCh38]
Chr2:84831485 [GRCh37]
uncertain significance
NM_001370.2(DNAH6):c.3208A>G (p.Thr1070Ala) single nucleotide variant not provided [RCV001528992] Chr2:84607009 [GRCh38]
Chr2:84834133 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10343-157G>C single nucleotide variant not provided [RCV001537518] Chr2:84744923 [GRCh38]
Chr2:84972047 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4516-209A>G single nucleotide variant not provided [RCV001679774] Chr2:84634295 [GRCh38]
Chr2:84861419 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2725-55C>T single nucleotide variant not provided [RCV001665635] Chr2:84595591 [GRCh38]
Chr2:84822715 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2725-144T>C single nucleotide variant not provided [RCV001690255] Chr2:84595502 [GRCh38]
Chr2:84822626 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.6916+159C>T single nucleotide variant not provided [RCV001647665] Chr2:84681687 [GRCh38]
Chr2:84908811 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.1186+99A>G single nucleotide variant not provided [RCV001691823] Chr2:84547711 [GRCh38]
Chr2:84774835 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3294+177T>A single nucleotide variant not provided [RCV001691835] Chr2:84607272 [GRCh38]
Chr2:84834396 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7138-94A>T single nucleotide variant not provided [RCV001679388] Chr2:84688345 [GRCh38]
Chr2:84915469 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.10512+200G>A single nucleotide variant not provided [RCV001668963] Chr2:84745449 [GRCh38]
Chr2:84972573 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4653+187C>T single nucleotide variant not provided [RCV001645495] Chr2:84634828 [GRCh38]
Chr2:84861952 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2869-187C>T single nucleotide variant not provided [RCV001612070] Chr2:84604152 [GRCh38]
Chr2:84831276 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.9611+77A>G single nucleotide variant not provided [RCV001645920] Chr2:84715704 [GRCh38]
Chr2:84942828 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.8727+223T>A single nucleotide variant not provided [RCV001644504] Chr2:84705970 [GRCh38]
Chr2:84933094 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7525-80G>A single nucleotide variant not provided [RCV001648654] Chr2:84697495 [GRCh38]
Chr2:84924619 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.12291A>G (p.Gln4097=) single nucleotide variant DNAH6-related disorder [RCV003936092]|not provided [RCV000970071] Chr2:84816001 [GRCh38]
Chr2:85043125 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.12419G>A (p.Arg4140Gln) single nucleotide variant DNAH6-related disorder [RCV003960821]|not provided [RCV000970072] Chr2:84819350 [GRCh38]
Chr2:85046474 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11998+8C>T single nucleotide variant not provided [RCV000905070] Chr2:84813138 [GRCh38]
Chr2:85040262 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.321A>C (p.Pro107=) single nucleotide variant not provided [RCV000965608] Chr2:84525660 [GRCh38]
Chr2:84752784 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.12352G>A (p.Ala4118Thr) single nucleotide variant DNAH6-related disorder [RCV003910617]|not provided [RCV000892335] Chr2:84816062 [GRCh38]
Chr2:85043186 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.11542G>A (p.Gly3848Ser) single nucleotide variant DNAH6-related disorder [RCV003936166]|not provided [RCV000973311] Chr2:84805725 [GRCh38]
Chr2:85032849 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7609G>C (p.Glu2537Gln) single nucleotide variant not provided [RCV000965609] Chr2:84697659 [GRCh38]
Chr2:84924783 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11998+9G>A single nucleotide variant not provided [RCV000965610] Chr2:84813139 [GRCh38]
Chr2:85040263 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11258G>A (p.Gly3753Asp) single nucleotide variant Abnormal spermatogenesis [RCV001089645] Chr2:84796324 [GRCh38]
Chr2:85023448 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9807C>T (p.Ala3269=) single nucleotide variant DNAH6-related disorder [RCV003920490]|not provided [RCV000879721] Chr2:84722639 [GRCh38]
Chr2:84949763 [GRCh37]
Chr2:2p11.2
benign|likely benign
NM_001370.2(DNAH6):c.1509AGA[2] (p.Glu505del) microsatellite DNAH6-related disorder [RCV003933241]|not provided [RCV000946620] Chr2:84552940..84552942 [GRCh38]
Chr2:84780064..84780066 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.4654-6G>A single nucleotide variant not provided [RCV000916883] Chr2:84637204 [GRCh38]
Chr2:84864328 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.12381A>C (p.Ser4127=) single nucleotide variant not provided [RCV000924954] Chr2:84819312 [GRCh38]
Chr2:85046436 [GRCh37]
Chr2:2p11.2
benign|likely benign
NM_001370.2(DNAH6):c.12471C>T (p.Ser4157=) single nucleotide variant not provided [RCV000969436] Chr2:84819402 [GRCh38]
Chr2:85046526 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7391G>A (p.Cys2464Tyr) single nucleotide variant not specified [RCV004285971] Chr2:84694347 [GRCh38]
Chr2:84921471 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3710G>T (p.Gly1237Val) single nucleotide variant not specified [RCV004302397] Chr2:84619822 [GRCh38]
Chr2:84846946 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7783C>G (p.Leu2595Val) single nucleotide variant not specified [RCV004304816] Chr2:84699699 [GRCh38]
Chr2:84926823 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9436A>G (p.Ser3146Gly) single nucleotide variant DNAH6-related disorder [RCV003910616]|not provided [RCV000892334] Chr2:84713152 [GRCh38]
Chr2:84940276 [GRCh37]
Chr2:2p11.2
likely benign
NM_003849.3(SUCLG1):c.-364T>C single nucleotide variant not provided [RCV000828651] Chr2:84459633 [GRCh38]
Chr2:84686757 [GRCh37]
Chr2:2p11.2
benign
Single allele deletion Premature ovarian failure [RCV000787453] Chr2:84766944..84938150 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_003849.3(SUCLG1):c.-536A>C single nucleotide variant not provided [RCV000832454] Chr2:84459805 [GRCh38]
Chr2:84686929 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.7292+6G>A single nucleotide variant not provided [RCV000893204] Chr2:84688599 [GRCh38]
Chr2:84915723 [GRCh37]
Chr2:2p11.2
benign|likely benign
GRCh37/hg19 2p11.2(chr2:84794026-84887289)x1 copy number loss not provided [RCV000847028] Chr2:84794026..84887289 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p11.2(chr2:84659334-84747480)x3 copy number gain not provided [RCV000847290] Chr2:84659334..84747480 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1 copy number loss not provided [RCV000846587] Chr2:77907114..87330965 [GRCh37]
Chr2:2p12-11.2
pathogenic
NM_001370.2(DNAH6):c.8649G>A (p.Met2883Ile) single nucleotide variant not specified [RCV004281567] Chr2:84705669 [GRCh38]
Chr2:84932793 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5821C>T (p.His1941Tyr) single nucleotide variant not specified [RCV004303786] Chr2:84658355 [GRCh38]
Chr2:84885479 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1535T>G (p.Met512Arg) single nucleotide variant not specified [RCV004315889] Chr2:84552967 [GRCh38]
Chr2:84780091 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4791G>C (p.Met1597Ile) single nucleotide variant not specified [RCV004293198] Chr2:84637347 [GRCh38]
Chr2:84864471 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.12420G>A (p.Arg4140=) single nucleotide variant not provided [RCV001647884] Chr2:84819351 [GRCh38]
Chr2:85046475 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3294+18T>C single nucleotide variant not provided [RCV001695172] Chr2:84607113 [GRCh38]
Chr2:84834237 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.662+51T>G single nucleotide variant not provided [RCV001673999] Chr2:84529217 [GRCh38]
Chr2:84756341 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7293-200G>C single nucleotide variant not provided [RCV001534125] Chr2:84694049 [GRCh38]
Chr2:84921173 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2611-153del deletion not provided [RCV001695490] Chr2:84593807 [GRCh38]
Chr2:84820931 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11838C>T (p.Pro3946=) single nucleotide variant not provided [RCV001638352] Chr2:84812439 [GRCh38]
Chr2:85039563 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2611-107A>G single nucleotide variant not provided [RCV001676106] Chr2:84593865 [GRCh38]
Chr2:84820989 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.6455-91G>A single nucleotide variant not provided [RCV001707440] Chr2:84672236 [GRCh38]
Chr2:84899360 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2610+110G>A single nucleotide variant not provided [RCV001710175] Chr2:84589064 [GRCh38]
Chr2:84816188 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2869-198T>G single nucleotide variant not provided [RCV001687293] Chr2:84604141 [GRCh38]
Chr2:84831265 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7138-184dup duplication not provided [RCV001717938] Chr2:84688238..84688239 [GRCh38]
Chr2:84915362..84915363 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2481+194dup duplication not provided [RCV001656181] Chr2:84584438..84584439 [GRCh38]
Chr2:84811562..84811563 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.5758-87G>A single nucleotide variant not provided [RCV001639457] Chr2:84658205 [GRCh38]
Chr2:84885329 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.400-21dup duplication not provided [RCV001691310] Chr2:84528872..84528873 [GRCh38]
Chr2:84755996..84755997 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.5940+17T>C single nucleotide variant not provided [RCV001620249] Chr2:84658491 [GRCh38]
Chr2:84885615 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4654-128C>G single nucleotide variant not provided [RCV001639783] Chr2:84637082 [GRCh38]
Chr2:84864206 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2229+139C>G single nucleotide variant not provided [RCV001693691] Chr2:84579818 [GRCh38]
Chr2:84806942 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11611+114A>G single nucleotide variant not provided [RCV001716404] Chr2:84805908 [GRCh38]
Chr2:85033032 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.663-220T>C single nucleotide variant not provided [RCV001620535] Chr2:84544013 [GRCh38]
Chr2:84771137 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.9793-157G>A single nucleotide variant not provided [RCV001656579] Chr2:84722468 [GRCh38]
Chr2:84949592 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4970+219C>T single nucleotide variant not provided [RCV001620386] Chr2:84640797 [GRCh38]
Chr2:84867921 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.8229+142del deletion not provided [RCV001687728] Chr2:84703692 [GRCh38]
Chr2:84930816 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2077-98G>A single nucleotide variant not provided [RCV001620838] Chr2:84579429 [GRCh38]
Chr2:84806553 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.10512+118C>T single nucleotide variant not provided [RCV001652559] Chr2:84745367 [GRCh38]
Chr2:84972491 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.9543+94T>C single nucleotide variant not provided [RCV001652598] Chr2:84713353 [GRCh38]
Chr2:84940477 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4788G>C (p.Ala1596=) single nucleotide variant not provided [RCV000969435] Chr2:84637344 [GRCh38]
Chr2:84864468 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3930C>T (p.Asp1310=) single nucleotide variant not provided [RCV000974918] Chr2:84621328 [GRCh38]
Chr2:84848452 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.163C>T (p.His55Tyr) single nucleotide variant DNAH6-related disorder [RCV003972828]|not provided [RCV000964451] Chr2:84517989 [GRCh38]
Chr2:84745113 [GRCh37]
Chr2:2p11.2
benign|likely benign
NM_001370.2(DNAH6):c.11562T>C (p.Asn3854=) single nucleotide variant not provided [RCV000955290] Chr2:84805745 [GRCh38]
Chr2:85032869 [GRCh37]
Chr2:2p11.2
benign|likely benign
NM_001370.2(DNAH6):c.2892G>A (p.Arg964=) single nucleotide variant not provided [RCV000909655] Chr2:84604362 [GRCh38]
Chr2:84831486 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4821+8T>C single nucleotide variant not provided [RCV000955946] Chr2:84637385 [GRCh38]
Chr2:84864509 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.6090C>A (p.Pro2030=) single nucleotide variant not provided [RCV000955947] Chr2:84669294 [GRCh38]
Chr2:84896418 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.8722G>A (p.Ala2908Thr) single nucleotide variant not provided [RCV000955948] Chr2:84705742 [GRCh38]
Chr2:84932866 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.10343-3C>T single nucleotide variant not provided [RCV000955949] Chr2:84745077 [GRCh38]
Chr2:84972201 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11561A>G (p.Asn3854Ser) single nucleotide variant DNAH6-related disorder [RCV003910557]|not provided [RCV000889806] Chr2:84805744 [GRCh38]
Chr2:85032868 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.7716G>A (p.Leu2572=) single nucleotide variant not provided [RCV000956628] Chr2:84699632 [GRCh38]
Chr2:84926756 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.10704-186A>G single nucleotide variant not provided [RCV001677020] Chr2:84781307 [GRCh38]
Chr2:85008431 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7063+89T>C single nucleotide variant not provided [RCV001677671] Chr2:84685561 [GRCh38]
Chr2:84912685 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2610+52G>A single nucleotide variant not provided [RCV001676102] Chr2:84589006 [GRCh38]
Chr2:84816130 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11998+139G>C single nucleotide variant not provided [RCV001720529] Chr2:84813269 [GRCh38]
Chr2:85040393 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.1924+187T>C single nucleotide variant not provided [RCV001720531] Chr2:84573774 [GRCh38]
Chr2:84800898 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.10206+103T>G single nucleotide variant not provided [RCV001720550] Chr2:84728005 [GRCh38]
Chr2:84955129 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.5331G>A (p.Gly1777=) single nucleotide variant DNAH6-related disorder [RCV003980749]|not provided [RCV001594519] Chr2:84653571 [GRCh38]
Chr2:84880695 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7976G>A (p.Arg2659Gln) single nucleotide variant not specified [RCV004321383] Chr2:84701254 [GRCh38]
Chr2:84928378 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9972+78T>C single nucleotide variant not provided [RCV001670117] Chr2:84722882 [GRCh38]
Chr2:84950006 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.12374-220_12374-219insAAG insertion not provided [RCV001621384] Chr2:84819085..84819086 [GRCh38]
Chr2:85046209..85046210 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4515+41T>A single nucleotide variant not provided [RCV001639058] Chr2:84625104 [GRCh38]
Chr2:84852228 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.10342+220del deletion not provided [RCV001720528] Chr2:84733799 [GRCh38]
Chr2:84960923 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4971-163A>C single nucleotide variant not provided [RCV001720530] Chr2:84641784 [GRCh38]
Chr2:84868908 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3082-130del deletion not provided [RCV001720548] Chr2:84605353 [GRCh38]
Chr2:84832477 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.12150+22T>C single nucleotide variant not provided [RCV001621524] Chr2:84814144 [GRCh38]
Chr2:85041268 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7819-230C>T single nucleotide variant not provided [RCV001674410] Chr2:84700867 [GRCh38]
Chr2:84927991 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3573-133C>T single nucleotide variant not provided [RCV001654568] Chr2:84619552 [GRCh38]
Chr2:84846676 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.6803G>A (p.Ser2268Asn) single nucleotide variant not provided [RCV001689016] Chr2:84681415 [GRCh38]
Chr2:84908539 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.662+160C>A single nucleotide variant not provided [RCV001597769] Chr2:84529326 [GRCh38]
Chr2:84756450 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.8229+142dup duplication not provided [RCV001685286] Chr2:84703691..84703692 [GRCh38]
Chr2:84930815..84930816 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.1186+157G>A single nucleotide variant not provided [RCV001678196] Chr2:84547769 [GRCh38]
Chr2:84774893 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3573-126A>G single nucleotide variant not provided [RCV001676184] Chr2:84619559 [GRCh38]
Chr2:84846683 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.6455-203T>C single nucleotide variant not provided [RCV001656183] Chr2:84672124 [GRCh38]
Chr2:84899248 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.8576A>G (p.Lys2859Arg) single nucleotide variant not provided [RCV001677539] Chr2:84705596 [GRCh38]
Chr2:84932720 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11998+151A>G single nucleotide variant not provided [RCV001686440] Chr2:84813281 [GRCh38]
Chr2:85040405 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7678-234C>T single nucleotide variant not provided [RCV001661222] Chr2:84699360 [GRCh38]
Chr2:84926484 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.10513-183T>A single nucleotide variant not provided [RCV001677944] Chr2:84762572 [GRCh38]
Chr2:84989696 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3694A>G (p.Met1232Val) single nucleotide variant not provided [RCV001657647] Chr2:84619806 [GRCh38]
Chr2:84846930 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.9792+106A>C single nucleotide variant not provided [RCV001677889] Chr2:84718490 [GRCh38]
Chr2:84945614 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11239+217dup duplication not provided [RCV001656743] Chr2:84787517..84787518 [GRCh38]
Chr2:85014641..85014642 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.1603-143G>A single nucleotide variant not provided [RCV001677184] Chr2:84557592 [GRCh38]
Chr2:84784716 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3081+92G>A single nucleotide variant not provided [RCV001669743] Chr2:84604643 [GRCh38]
Chr2:84831767 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2481+29A>C single nucleotide variant not provided [RCV001670932] Chr2:84584279 [GRCh38]
Chr2:84811403 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2076+16A>G single nucleotide variant not provided [RCV001598763] Chr2:84577424 [GRCh38]
Chr2:84804548 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4970+180G>A single nucleotide variant not provided [RCV001638290] Chr2:84640758 [GRCh38]
Chr2:84867882 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11239+34A>G single nucleotide variant not provided [RCV001599067] Chr2:84787336 [GRCh38]
Chr2:85014460 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.8229+141_8229+142dup duplication not provided [RCV001595208] Chr2:84703691..84703692 [GRCh38]
Chr2:84930815..84930816 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.6612+153C>G single nucleotide variant not provided [RCV001691048] Chr2:84672637 [GRCh38]
Chr2:84899761 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3174+109T>C single nucleotide variant not provided [RCV001691085] Chr2:84605701 [GRCh38]
Chr2:84832825 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2725-221G>A single nucleotide variant not provided [RCV001684447] Chr2:84595425 [GRCh38]
Chr2:84822549 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.12150+70T>C single nucleotide variant not provided [RCV001713815] Chr2:84814192 [GRCh38]
Chr2:85041316 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3992G>A (p.Arg1331His) single nucleotide variant not provided [RCV001686069] Chr2:84621472 [GRCh38]
Chr2:84848596 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3175-37T>C single nucleotide variant not provided [RCV001695517] Chr2:84606939 [GRCh38]
Chr2:84834063 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7064-125A>C single nucleotide variant not provided [RCV001695570] Chr2:84686359 [GRCh38]
Chr2:84913483 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4353+19G>A single nucleotide variant not provided [RCV001693253] Chr2:84624639 [GRCh38]
Chr2:84851763 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7064-153C>T single nucleotide variant not provided [RCV001647874] Chr2:84686331 [GRCh38]
Chr2:84913455 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4654-179C>G single nucleotide variant not provided [RCV001647899] Chr2:84637031 [GRCh38]
Chr2:84864155 [GRCh37]
Chr2:2p11.2
benign
GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1 copy number loss not provided [RCV001537915] Chr2:81209244..86688030 [GRCh37]
Chr2:2p12-11.2
pathogenic
NM_001370.2(DNAH6):c.6612+30G>A single nucleotide variant not provided [RCV001678819] Chr2:84672514 [GRCh38]
Chr2:84899638 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3175-216G>T single nucleotide variant not provided [RCV001616308] Chr2:84606760 [GRCh38]
Chr2:84833884 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7064-20T>G single nucleotide variant not provided [RCV001692610] Chr2:84686464 [GRCh38]
Chr2:84913588 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2610+100G>A single nucleotide variant not provided [RCV001670609] Chr2:84589054 [GRCh38]
Chr2:84816178 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7677+43G>A single nucleotide variant not provided [RCV001690491] Chr2:84697770 [GRCh38]
Chr2:84924894 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11359+104G>C single nucleotide variant not provided [RCV001610828] Chr2:84796529 [GRCh38]
Chr2:85023653 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2482-202G>A single nucleotide variant not provided [RCV001693111] Chr2:84588624 [GRCh38]
Chr2:84815748 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.12150+49T>C single nucleotide variant not provided [RCV001612839] Chr2:84814171 [GRCh38]
Chr2:85041295 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.5757+196T>A single nucleotide variant not provided [RCV001684081] Chr2:84654978 [GRCh38]
Chr2:84882102 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.1316+132A>T single nucleotide variant not provided [RCV001695809] Chr2:84548549 [GRCh38]
Chr2:84775673 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.6582C>A (p.Asp2194Glu) single nucleotide variant Abnormal spermatogenesis [RCV001174502] Chr2:84672454 [GRCh38]
Chr2:84899578 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001370.2(DNAH6):c.11999-6T>C single nucleotide variant DNAH6-related disorder [RCV003938618]|not provided [RCV001311199] Chr2:84813965 [GRCh38]
Chr2:85041089 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.4072-16T>C single nucleotide variant not provided [RCV001685997] Chr2:84624249 [GRCh38]
Chr2:84851373 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.6307-91T>A single nucleotide variant not provided [RCV001653269] Chr2:84670237 [GRCh38]
Chr2:84897361 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.11998+164A>G single nucleotide variant not provided [RCV001684187] Chr2:84813294 [GRCh38]
Chr2:85040418 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4654-71C>T single nucleotide variant not provided [RCV001715530] Chr2:84637139 [GRCh38]
Chr2:84864263 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.400-22_400-21dup duplication not provided [RCV001684324] Chr2:84528872..84528873 [GRCh38]
Chr2:84755996..84755997 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.12150+161A>G single nucleotide variant not provided [RCV001645899] Chr2:84814283 [GRCh38]
Chr2:85041407 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.9792+171C>T single nucleotide variant not provided [RCV001688067] Chr2:84718555 [GRCh38]
Chr2:84945679 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.6300G>A (p.Val2100=) single nucleotide variant not provided [RCV001671375] Chr2:84669504 [GRCh38]
Chr2:84896628 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.1485+166T>C single nucleotide variant not provided [RCV001655269] Chr2:84550223 [GRCh38]
Chr2:84777347 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.10865-70G>T single nucleotide variant not provided [RCV001615915] Chr2:84784652 [GRCh38]
Chr2:85011776 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3294+185T>C single nucleotide variant not provided [RCV001536856] Chr2:84607280 [GRCh38]
Chr2:84834404 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2724+198_2724+199insA insertion not provided [RCV001687645] Chr2:84594283..84594284 [GRCh38]
Chr2:84821407..84821408 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.9543+15T>C single nucleotide variant not provided [RCV001696624] Chr2:84713274 [GRCh38]
Chr2:84940398 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7818+211del deletion not provided [RCV001687922] Chr2:84699945 [GRCh38]
Chr2:84927069 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4354-71T>C single nucleotide variant not provided [RCV001652257] Chr2:84624831 [GRCh38]
Chr2:84851955 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3294+156C>T single nucleotide variant not provided [RCV001666108] Chr2:84607251 [GRCh38]
Chr2:84834375 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.12373+146G>A single nucleotide variant not provided [RCV001688168] Chr2:84816229 [GRCh38]
Chr2:85043353 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.226-59A>C single nucleotide variant not provided [RCV001675230] Chr2:84525506 [GRCh38]
Chr2:84752630 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.6181C>T (p.Arg2061Ter) single nucleotide variant Heterotaxy [RCV001732157] Chr2:84669385 [GRCh38]
Chr2:84896509 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p12-11.2(chr2:82486900-87322042) copy number loss not specified [RCV002053172] Chr2:82486900..87322042 [GRCh37]
Chr2:2p12-11.2
pathogenic
NM_001370.2(DNAH6):c.12277C>A (p.His4093Asn) single nucleotide variant not specified [RCV004304416] Chr2:84815987 [GRCh38]
Chr2:85043111 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
NM_001370.2(DNAH6):c.9209C>T (p.Thr3070Ile) single nucleotide variant not specified [RCV004315391] Chr2:84709503 [GRCh38]
Chr2:84936627 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2099G>A (p.Arg700His) single nucleotide variant not specified [RCV004143762] Chr2:84579549 [GRCh38]
Chr2:84806673 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3562A>G (p.Ile1188Val) single nucleotide variant not specified [RCV004149085] Chr2:84616972 [GRCh38]
Chr2:84844096 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1834C>T (p.Arg612Cys) single nucleotide variant not specified [RCV004193532] Chr2:84573497 [GRCh38]
Chr2:84800621 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1139G>A (p.Arg380His) single nucleotide variant not specified [RCV004207567] Chr2:84547565 [GRCh38]
Chr2:84774689 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10982G>A (p.Arg3661His) single nucleotide variant not specified [RCV004197258] Chr2:84785638 [GRCh38]
Chr2:85012762 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6634T>G (p.Cys2212Gly) single nucleotide variant not specified [RCV004222251] Chr2:84677026 [GRCh38]
Chr2:84904150 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7985C>T (p.Thr2662Met) single nucleotide variant not specified [RCV004127854] Chr2:84701263 [GRCh38]
Chr2:84928387 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1138C>T (p.Arg380Cys) single nucleotide variant not specified [RCV004151582] Chr2:84547564 [GRCh38]
Chr2:84774688 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.571A>G (p.Lys191Glu) single nucleotide variant not specified [RCV004154116] Chr2:84529075 [GRCh38]
Chr2:84756199 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1733G>C (p.Gly578Ala) single nucleotide variant not specified [RCV004123904] Chr2:84557865 [GRCh38]
Chr2:84784989 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4202A>G (p.Glu1401Gly) single nucleotide variant not specified [RCV004204222] Chr2:84624469 [GRCh38]
Chr2:84851593 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10138C>T (p.Arg3380Cys) single nucleotide variant not specified [RCV004087434] Chr2:84727834 [GRCh38]
Chr2:84954958 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8686A>G (p.Lys2896Glu) single nucleotide variant not specified [RCV004161610] Chr2:84705706 [GRCh38]
Chr2:84932830 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5620C>T (p.His1874Tyr) single nucleotide variant not specified [RCV004138275] Chr2:84653860 [GRCh38]
Chr2:84880984 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8695G>A (p.Glu2899Lys) single nucleotide variant not provided [RCV003427601]|not specified [RCV004100750] Chr2:84705715 [GRCh38]
Chr2:84932839 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2490G>T (p.Gln830His) single nucleotide variant not specified [RCV004097478] Chr2:84588834 [GRCh38]
Chr2:84815958 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6487G>A (p.Val2163Ile) single nucleotide variant not specified [RCV004149857] Chr2:84672359 [GRCh38]
Chr2:84899483 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1417C>G (p.Arg473Gly) single nucleotide variant not specified [RCV004191467] Chr2:84549989 [GRCh38]
Chr2:84777113 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8954T>A (p.Phe2985Tyr) single nucleotide variant not specified [RCV004139275] Chr2:84707622 [GRCh38]
Chr2:84934746 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8422G>A (p.Val2808Ile) single nucleotide variant not provided [RCV004725619]|not specified [RCV004198352] Chr2:84704259 [GRCh38]
Chr2:84931383 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9803G>C (p.Gly3268Ala) single nucleotide variant not specified [RCV004131048] Chr2:84722635 [GRCh38]
Chr2:84949759 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5840G>A (p.Cys1947Tyr) single nucleotide variant not specified [RCV004149665] Chr2:84658374 [GRCh38]
Chr2:84885498 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5660C>A (p.Pro1887His) single nucleotide variant not specified [RCV004131156] Chr2:84654685 [GRCh38]
Chr2:84881809 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9260G>A (p.Arg3087His) single nucleotide variant not provided [RCV003427639]|not specified [RCV004194552] Chr2:84710294 [GRCh38]
Chr2:84937418 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4612G>A (p.Ala1538Thr) single nucleotide variant not specified [RCV004151344] Chr2:84634600 [GRCh38]
Chr2:84861724 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.191G>C (p.Arg64Thr) single nucleotide variant not specified [RCV004093794] Chr2:84518017 [GRCh38]
Chr2:84745141 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1819G>A (p.Ala607Thr) single nucleotide variant not specified [RCV004213238] Chr2:84573482 [GRCh38]
Chr2:84800606 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9623G>A (p.Arg3208Gln) single nucleotide variant not specified [RCV004158161] Chr2:84718215 [GRCh38]
Chr2:84945339 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7153G>A (p.Ala2385Thr) single nucleotide variant not specified [RCV004091885] Chr2:84688454 [GRCh38]
Chr2:84915578 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7520C>T (p.Thr2507Ile) single nucleotide variant not specified [RCV004211587] Chr2:84694476 [GRCh38]
Chr2:84921600 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7060G>A (p.Ala2354Thr) single nucleotide variant not specified [RCV004095132] Chr2:84685469 [GRCh38]
Chr2:84912593 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3497A>C (p.Asn1166Thr) single nucleotide variant not specified [RCV004187524] Chr2:84616907 [GRCh38]
Chr2:84844031 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5039A>G (p.Asn1680Ser) single nucleotide variant not specified [RCV004117422] Chr2:84642015 [GRCh38]
Chr2:84869139 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5272G>A (p.Gly1758Ser) single nucleotide variant not specified [RCV004131155] Chr2:84653512 [GRCh38]
Chr2:84880636 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2530A>G (p.Ile844Val) single nucleotide variant not specified [RCV004183672] Chr2:84588874 [GRCh38]
Chr2:84815998 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9875G>A (p.Arg3292His) single nucleotide variant not specified [RCV004236883] Chr2:84722707 [GRCh38]
Chr2:84949831 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10525C>T (p.Leu3509Phe) single nucleotide variant not specified [RCV004191756] Chr2:84762767 [GRCh38]
Chr2:84989891 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6230G>A (p.Arg2077His) single nucleotide variant not specified [RCV004239172] Chr2:84669434 [GRCh38]
Chr2:84896558 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1325G>A (p.Arg442His) single nucleotide variant not specified [RCV004238746] Chr2:84549897 [GRCh38]
Chr2:84777021 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.163C>A (p.His55Asn) single nucleotide variant not specified [RCV004191709] Chr2:84517989 [GRCh38]
Chr2:84745113 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6862C>T (p.Pro2288Ser) single nucleotide variant not specified [RCV004167602] Chr2:84681474 [GRCh38]
Chr2:84908598 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2761G>A (p.Gly921Ser) single nucleotide variant not specified [RCV004133389] Chr2:84595682 [GRCh38]
Chr2:84822806 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.10139G>A (p.Arg3380His) single nucleotide variant not specified [RCV004119597] Chr2:84727835 [GRCh38]
Chr2:84954959 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2897C>T (p.Pro966Leu) single nucleotide variant not specified [RCV004077466] Chr2:84604367 [GRCh38]
Chr2:84831491 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8109C>A (p.Asn2703Lys) single nucleotide variant not specified [RCV004177746] Chr2:84703442 [GRCh38]
Chr2:84930566 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1835G>A (p.Arg612His) single nucleotide variant not specified [RCV004200901] Chr2:84573498 [GRCh38]
Chr2:84800622 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10870G>T (p.Ala3624Ser) single nucleotide variant not specified [RCV004079612] Chr2:84784727 [GRCh38]
Chr2:85011851 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3991C>G (p.Arg1331Gly) single nucleotide variant not specified [RCV004105795] Chr2:84621471 [GRCh38]
Chr2:84848595 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1324C>T (p.Arg442Cys) single nucleotide variant not specified [RCV004133005] Chr2:84549896 [GRCh38]
Chr2:84777020 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8671T>A (p.Tyr2891Asn) single nucleotide variant not specified [RCV004107091] Chr2:84705691 [GRCh38]
Chr2:84932815 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7411A>G (p.Ile2471Val) single nucleotide variant not specified [RCV004145787] Chr2:84694367 [GRCh38]
Chr2:84921491 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.239T>C (p.Val80Ala) single nucleotide variant not specified [RCV004148791] Chr2:84525578 [GRCh38]
Chr2:84752702 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.251A>T (p.His84Leu) single nucleotide variant not specified [RCV004148792] Chr2:84525590 [GRCh38]
Chr2:84752714 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5324A>C (p.Lys1775Thr) single nucleotide variant not specified [RCV004203738] Chr2:84653564 [GRCh38]
Chr2:84880688 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.105A>T (p.Arg35Ser) single nucleotide variant not specified [RCV004223273] Chr2:84517931 [GRCh38]
Chr2:84745055 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8545A>G (p.Ile2849Val) single nucleotide variant not specified [RCV004201228] Chr2:84705565 [GRCh38]
Chr2:84932689 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10486C>T (p.Leu3496Phe) single nucleotide variant not specified [RCV004185110] Chr2:84745223 [GRCh38]
Chr2:84972347 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.767G>A (p.Arg256Gln) single nucleotide variant not specified [RCV004203607] Chr2:84544337 [GRCh38]
Chr2:84771461 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10052T>A (p.Leu3351His) single nucleotide variant not specified [RCV004173675] Chr2:84727748 [GRCh38]
Chr2:84954872 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6451C>A (p.Leu2151Ile) single nucleotide variant not specified [RCV004161550] Chr2:84670472 [GRCh38]
Chr2:84897596 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2915A>T (p.His972Leu) single nucleotide variant not specified [RCV004207505] Chr2:84604385 [GRCh38]
Chr2:84831509 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9014A>G (p.Tyr3005Cys) single nucleotide variant not specified [RCV004135560] Chr2:84707682 [GRCh38]
Chr2:84934806 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6265A>G (p.Lys2089Glu) single nucleotide variant not specified [RCV004209865] Chr2:84669469 [GRCh38]
Chr2:84896593 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8431G>A (p.Val2811Ile) single nucleotide variant not specified [RCV004222558] Chr2:84704268 [GRCh38]
Chr2:84931392 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1745G>A (p.Ser582Asn) single nucleotide variant not specified [RCV004169344] Chr2:84557877 [GRCh38]
Chr2:84785001 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2150A>G (p.Glu717Gly) single nucleotide variant not specified [RCV004085702] Chr2:84579600 [GRCh38]
Chr2:84806724 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5452G>C (p.Ala1818Pro) single nucleotide variant not specified [RCV004242380] Chr2:84653692 [GRCh38]
Chr2:84880816 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10619C>T (p.Thr3540Ile) single nucleotide variant not specified [RCV004148911] Chr2:84762861 [GRCh38]
Chr2:84989985 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5250G>A (p.Met1750Ile) single nucleotide variant not specified [RCV004101075] Chr2:84653490 [GRCh38]
Chr2:84880614 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6694A>G (p.Met2232Val) single nucleotide variant not specified [RCV004239531] Chr2:84677086 [GRCh38]
Chr2:84904210 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5033A>T (p.Asp1678Val) single nucleotide variant not specified [RCV004214944] Chr2:84642009 [GRCh38]
Chr2:84869133 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4624A>G (p.Ile1542Val) single nucleotide variant not specified [RCV004162773] Chr2:84634612 [GRCh38]
Chr2:84861736 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6653G>A (p.Gly2218Asp) single nucleotide variant not specified [RCV004121594] Chr2:84677045 [GRCh38]
Chr2:84904169 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.938G>A (p.Arg313Gln) single nucleotide variant not specified [RCV004212556] Chr2:84547275 [GRCh38]
Chr2:84774399 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9695T>C (p.Leu3232Ser) single nucleotide variant not specified [RCV004164779] Chr2:84718287 [GRCh38]
Chr2:84945411 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9146G>A (p.Arg3049Gln) single nucleotide variant not specified [RCV004075565] Chr2:84709440 [GRCh38]
Chr2:84936564 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6521A>G (p.Tyr2174Cys) single nucleotide variant not specified [RCV004168397] Chr2:84672393 [GRCh38]
Chr2:84899517 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.862A>G (p.Asn288Asp) single nucleotide variant not specified [RCV004069571] Chr2:84544432 [GRCh38]
Chr2:84771556 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10310A>C (p.Asn3437Thr) single nucleotide variant not specified [RCV004108651] Chr2:84733547 [GRCh38]
Chr2:84960671 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3256G>A (p.Glu1086Lys) single nucleotide variant not specified [RCV004187463] Chr2:84607057 [GRCh38]
Chr2:84834181 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.12304C>T (p.Pro4102Ser) single nucleotide variant not specified [RCV004073751] Chr2:84816014 [GRCh38]
Chr2:85043138 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6968G>A (p.Arg2323Lys) single nucleotide variant not specified [RCV004123648] Chr2:84685377 [GRCh38]
Chr2:84912501 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3314A>G (p.Gln1105Arg) single nucleotide variant not specified [RCV004092472] Chr2:84611693 [GRCh38]
Chr2:84838817 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10399C>T (p.His3467Tyr) single nucleotide variant not specified [RCV004137888] Chr2:84745136 [GRCh38]
Chr2:84972260 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.2270T>C (p.Met757Thr) single nucleotide variant not specified [RCV004144552] Chr2:84584039 [GRCh38]
Chr2:84811163 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10997G>A (p.Arg3666Gln) single nucleotide variant not specified [RCV004203737] Chr2:84785653 [GRCh38]
Chr2:85012777 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7675G>A (p.Glu2559Lys) single nucleotide variant not specified [RCV004138429] Chr2:84697725 [GRCh38]
Chr2:84924849 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5086A>T (p.Ile1696Leu) single nucleotide variant not specified [RCV004186879] Chr2:84653326 [GRCh38]
Chr2:84880450 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5538T>G (p.Ile1846Met) single nucleotide variant not specified [RCV004240539] Chr2:84653778 [GRCh38]
Chr2:84880902 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4660A>G (p.Arg1554Gly) single nucleotide variant not specified [RCV004080100] Chr2:84637216 [GRCh38]
Chr2:84864340 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2491A>G (p.Ile831Val) single nucleotide variant not specified [RCV004230510] Chr2:84588835 [GRCh38]
Chr2:84815959 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4693G>A (p.Val1565Met) single nucleotide variant not specified [RCV004160299] Chr2:84637249 [GRCh38]
Chr2:84864373 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.12037A>G (p.Ile4013Val) single nucleotide variant not specified [RCV004082612] Chr2:84814009 [GRCh38]
Chr2:85041133 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11740A>G (p.Thr3914Ala) single nucleotide variant not specified [RCV004096707] Chr2:84812341 [GRCh38]
Chr2:85039465 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5077A>C (p.Ser1693Arg) single nucleotide variant not specified [RCV004223334] Chr2:84642053 [GRCh38]
Chr2:84869177 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3248G>A (p.Arg1083Gln) single nucleotide variant not specified [RCV004084285] Chr2:84607049 [GRCh38]
Chr2:84834173 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3088G>A (p.Asp1030Asn) single nucleotide variant not specified [RCV004257459] Chr2:84605506 [GRCh38]
Chr2:84832630 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9919A>G (p.Ser3307Gly) single nucleotide variant not specified [RCV004270295] Chr2:84722751 [GRCh38]
Chr2:84949875 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4751T>C (p.Leu1584Ser) single nucleotide variant not specified [RCV004285403] Chr2:84637307 [GRCh38]
Chr2:84864431 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1663G>A (p.Val555Met) single nucleotide variant not specified [RCV004254330] Chr2:84557795 [GRCh38]
Chr2:84784919 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.119C>T (p.Thr40Ile) single nucleotide variant not specified [RCV004276624] Chr2:84517945 [GRCh38]
Chr2:84745069 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1585T>C (p.Ser529Pro) single nucleotide variant not specified [RCV004273049] Chr2:84553017 [GRCh38]
Chr2:84780141 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4927G>A (p.Asp1643Asn) single nucleotide variant not specified [RCV004257366] Chr2:84640535 [GRCh38]
Chr2:84867659 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1618G>T (p.Ala540Ser) single nucleotide variant not specified [RCV004271098] Chr2:84557750 [GRCh38]
Chr2:84784874 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7527T>G (p.Ile2509Met) single nucleotide variant not specified [RCV004250700] Chr2:84697577 [GRCh38]
Chr2:84924701 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1805A>G (p.Glu602Gly) single nucleotide variant not specified [RCV004272786] Chr2:84573468 [GRCh38]
Chr2:84800592 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.4253T>C (p.Ile1418Thr) single nucleotide variant not specified [RCV004250651] Chr2:84624520 [GRCh38]
Chr2:84851644 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4402G>C (p.Gly1468Arg) single nucleotide variant not specified [RCV004269163] Chr2:84624950 [GRCh38]
Chr2:84852074 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9819G>T (p.Arg3273Ser) single nucleotide variant not specified [RCV004311033] Chr2:84722651 [GRCh38]
Chr2:84949775 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1970A>T (p.His657Leu) single nucleotide variant not specified [RCV004330962] Chr2:84577302 [GRCh38]
Chr2:84804426 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4776T>G (p.Phe1592Leu) single nucleotide variant not specified [RCV004278993] Chr2:84637332 [GRCh38]
Chr2:84864456 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.461T>C (p.Ile154Thr) single nucleotide variant not specified [RCV004249847] Chr2:84528965 [GRCh38]
Chr2:84756089 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.25G>A (p.Glu9Lys) single nucleotide variant not specified [RCV004278243] Chr2:84517851 [GRCh38]
Chr2:84744975 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9394G>C (p.Asp3132His) single nucleotide variant not specified [RCV004280980] Chr2:84713110 [GRCh38]
Chr2:84940234 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10286C>T (p.Pro3429Leu) single nucleotide variant not specified [RCV004253080] Chr2:84733523 [GRCh38]
Chr2:84960647 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11465C>T (p.Ala3822Val) single nucleotide variant not specified [RCV004324912] Chr2:84797642 [GRCh38]
Chr2:85024766 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.943G>A (p.Ala315Thr) single nucleotide variant not specified [RCV004348526] Chr2:84547280 [GRCh38]
Chr2:84774404 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8317C>G (p.Leu2773Val) single nucleotide variant not specified [RCV004356780] Chr2:84704154 [GRCh38]
Chr2:84931278 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6887A>G (p.Asn2296Ser) single nucleotide variant not specified [RCV004347189] Chr2:84681499 [GRCh38]
Chr2:84908623 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.12350G>A (p.Arg4117Gln) single nucleotide variant not specified [RCV004342014] Chr2:84816060 [GRCh38]
Chr2:85043184 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9457C>T (p.Arg3153Cys) single nucleotide variant not provided [RCV003883985]|not specified [RCV004349383] Chr2:84713173 [GRCh38]
Chr2:84940297 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7295T>C (p.Ile2432Thr) single nucleotide variant not specified [RCV004344115] Chr2:84694251 [GRCh38]
Chr2:84921375 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10382G>A (p.Gly3461Asp) single nucleotide variant not specified [RCV004355776] Chr2:84745119 [GRCh38]
Chr2:84972243 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5057C>T (p.Thr1686Ile) single nucleotide variant not specified [RCV004351881] Chr2:84642033 [GRCh38]
Chr2:84869157 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3590A>G (p.Asn1197Ser) single nucleotide variant not specified [RCV004366044] Chr2:84619702 [GRCh38]
Chr2:84846826 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5035T>A (p.Ser1679Thr) single nucleotide variant not specified [RCV004356065] Chr2:84642011 [GRCh38]
Chr2:84869135 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.580C>T (p.Arg194Cys) single nucleotide variant not specified [RCV004334498] Chr2:84529084 [GRCh38]
Chr2:84756208 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7772T>C (p.Met2591Thr) single nucleotide variant not specified [RCV004352313] Chr2:84699688 [GRCh38]
Chr2:84926812 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2360G>A (p.Arg787Gln) single nucleotide variant not specified [RCV004334881] Chr2:84584129 [GRCh38]
Chr2:84811253 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10659G>A (p.Met3553Ile) single nucleotide variant not specified [RCV004346812] Chr2:84762901 [GRCh38]
Chr2:84990025 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9337G>A (p.Glu3113Lys) single nucleotide variant not specified [RCV004339695] Chr2:84710371 [GRCh38]
Chr2:84937495 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6455G>A (p.Gly2152Glu) single nucleotide variant not specified [RCV004360375] Chr2:84672327 [GRCh38]
Chr2:84899451 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7705C>T (p.Arg2569Cys) single nucleotide variant not specified [RCV004344691] Chr2:84699621 [GRCh38]
Chr2:84926745 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5413G>A (p.Val1805Ile) single nucleotide variant not specified [RCV004359433] Chr2:84653653 [GRCh38]
Chr2:84880777 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6995T>G (p.Val2332Gly) single nucleotide variant not specified [RCV004349140] Chr2:84685404 [GRCh38]
Chr2:84912528 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8150A>G (p.Glu2717Gly) single nucleotide variant not specified [RCV004365053] Chr2:84703483 [GRCh38]
Chr2:84930607 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10711T>C (p.Ser3571Pro) single nucleotide variant not specified [RCV004346590] Chr2:84781500 [GRCh38]
Chr2:85008624 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7865A>G (p.Gln2622Arg) single nucleotide variant not specified [RCV004349044] Chr2:84701143 [GRCh38]
Chr2:84928267 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.358A>C (p.Thr120Pro) single nucleotide variant not specified [RCV004348224] Chr2:84525697 [GRCh38]
Chr2:84752821 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6502A>T (p.Met2168Leu) single nucleotide variant DNAH6-related disorder [RCV003980910]|not provided [RCV003427080] Chr2:84672374 [GRCh38]
Chr2:84899498 [GRCh37]
Chr2:2p11.2
benign|likely benign
NM_001370.2(DNAH6):c.10480C>A (p.Leu3494Ile) single nucleotide variant not provided [RCV003427082]|not specified [RCV004364571] Chr2:84745217 [GRCh38]
Chr2:84972341 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10621C>T (p.Pro3541Ser) single nucleotide variant DNAH6-related disorder [RCV003408761] Chr2:84762863 [GRCh38]
Chr2:84989987 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7707T>C (p.Arg2569=) single nucleotide variant not provided [RCV003427081] Chr2:84699623 [GRCh38]
Chr2:84926747 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.5194A>G (p.Met1732Val) single nucleotide variant DNAH6-related disorder [RCV003391275] Chr2:84653434 [GRCh38]
Chr2:84880558 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.757G>A (p.Glu253Lys) single nucleotide variant not provided [RCV003490705] Chr2:84544327 [GRCh38]
Chr2:84771451 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4516A>G (p.Met1506Val) single nucleotide variant not provided [RCV003490706]|not specified [RCV004364878] Chr2:84634504 [GRCh38]
Chr2:84861628 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3934G>T (p.Val1312Leu) single nucleotide variant DNAH6-related disorder [RCV003919485] Chr2:84621332 [GRCh38]
Chr2:84848456 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.1673C>A (p.Ser558Ter) single nucleotide variant DNAH6-related disorder [RCV003894478] Chr2:84557805 [GRCh38]
Chr2:84784929 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.752T>G (p.Phe251Cys) single nucleotide variant DNAH6-related disorder [RCV003901646] Chr2:84544322 [GRCh38]
Chr2:84771446 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10241C>T (p.Pro3414Leu) single nucleotide variant DNAH6-related disorder [RCV003907325] Chr2:84733478 [GRCh38]
Chr2:84960602 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.2907G>A (p.Lys969=) single nucleotide variant DNAH6-related disorder [RCV003981390] Chr2:84604377 [GRCh38]
Chr2:84831501 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.519C>T (p.His173=) single nucleotide variant DNAH6-related disorder [RCV003944515] Chr2:84529023 [GRCh38]
Chr2:84756147 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.9808A>G (p.Ile3270Val) single nucleotide variant DNAH6-related disorder [RCV003936781] Chr2:84722640 [GRCh38]
Chr2:84949764 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.8852-10A>C single nucleotide variant DNAH6-related disorder [RCV003898993] Chr2:84707510 [GRCh38]
Chr2:84934634 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.8066G>A (p.Arg2689Gln) single nucleotide variant DNAH6-related disorder [RCV003924676] Chr2:84703399 [GRCh38]
Chr2:84930523 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.2868+7T>G single nucleotide variant DNAH6-related disorder [RCV003931837] Chr2:84595796 [GRCh38]
Chr2:84822920 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.4497A>G (p.Ser1499=) single nucleotide variant DNAH6-related disorder [RCV003931816] Chr2:84625045 [GRCh38]
Chr2:84852169 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.6527C>G (p.Ser2176Cys) single nucleotide variant DNAH6-related disorder [RCV003921424] Chr2:84672399 [GRCh38]
Chr2:84899523 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5241T>C (p.His1747=) single nucleotide variant DNAH6-related disorder [RCV003926909] Chr2:84653481 [GRCh38]
Chr2:84880605 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.3144G>A (p.Val1048=) single nucleotide variant DNAH6-related disorder [RCV003903884] Chr2:84605562 [GRCh38]
Chr2:84832686 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.1317-10del deletion DNAH6-related disorder [RCV003931988] Chr2:84549872 [GRCh38]
Chr2:84776996 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.7678G>T (p.Val2560Leu) single nucleotide variant DNAH6-related disorder [RCV003932068] Chr2:84699594 [GRCh38]
Chr2:84926718 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.2290T>C (p.Tyr764His) single nucleotide variant DNAH6-related disorder [RCV003917292] Chr2:84584059 [GRCh38]
Chr2:84811183 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.3647A>T (p.His1216Leu) single nucleotide variant DNAH6-related disorder [RCV003981348] Chr2:84619759 [GRCh38]
Chr2:84846883 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.1248T>C (p.Tyr416=) single nucleotide variant DNAH6-related disorder [RCV003946993] Chr2:84548349 [GRCh38]
Chr2:84775473 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.1924+9T>G single nucleotide variant DNAH6-related disorder [RCV003932246] Chr2:84573596 [GRCh38]
Chr2:84800720 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.7957T>C (p.Tyr2653His) single nucleotide variant DNAH6-related disorder [RCV003914727] Chr2:84701235 [GRCh38]
Chr2:84928359 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.6843T>C (p.Ser2281=) single nucleotide variant DNAH6-related disorder [RCV003951971] Chr2:84681455 [GRCh38]
Chr2:84908579 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.3816G>A (p.Lys1272=) single nucleotide variant DNAH6-related disorder [RCV003911453] Chr2:84621214 [GRCh38]
Chr2:84848338 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.7975C>T (p.Arg2659Trp) single nucleotide variant DNAH6-related disorder [RCV003933972] Chr2:84701253 [GRCh38]
Chr2:84928377 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.11612-9A>G single nucleotide variant DNAH6-related disorder [RCV003917071] Chr2:84808406 [GRCh38]
Chr2:85035530 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.3960T>C (p.Val1320=) single nucleotide variant DNAH6-related disorder [RCV003909523] Chr2:84621440 [GRCh38]
Chr2:84848564 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.8229+8G>A single nucleotide variant DNAH6-related disorder [RCV003959645] Chr2:84703570 [GRCh38]
Chr2:84930694 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.2179A>G (p.Thr727Ala) single nucleotide variant DNAH6-related disorder [RCV003903936] Chr2:84579629 [GRCh38]
Chr2:84806753 [GRCh37]
Chr2:2p11.2
benign
NM_001370.2(DNAH6):c.4399G>A (p.Gly1467Arg) single nucleotide variant DNAH6-related disorder [RCV003944109] Chr2:84624947 [GRCh38]
Chr2:84852071 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11839G>A (p.Ala3947Thr) single nucleotide variant not specified [RCV004376820] Chr2:84812440 [GRCh38]
Chr2:85039564 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1886A>G (p.Glu629Gly) single nucleotide variant not specified [RCV004376827] Chr2:84573549 [GRCh38]
Chr2:84800673 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3620C>T (p.Thr1207Ile) single nucleotide variant not specified [RCV004376838] Chr2:84619732 [GRCh38]
Chr2:84846856 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6643C>T (p.Pro2215Ser) single nucleotide variant not specified [RCV004376851] Chr2:84677035 [GRCh38]
Chr2:84904159 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.746T>C (p.Ile249Thr) single nucleotide variant not specified [RCV004376856] Chr2:84544316 [GRCh38]
Chr2:84771440 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10253G>T (p.Trp3418Leu) single nucleotide variant not specified [RCV004376812] Chr2:84733490 [GRCh38]
Chr2:84960614 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11204G>A (p.Gly3735Glu) single nucleotide variant not specified [RCV004376817] Chr2:84787267 [GRCh38]
Chr2:85014391 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.161G>C (p.Arg54Thr) single nucleotide variant not specified [RCV004376826] Chr2:84517987 [GRCh38]
Chr2:84745111 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.637A>G (p.Ile213Val) single nucleotide variant not specified [RCV004376850] Chr2:84529141 [GRCh38]
Chr2:84756265 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6865G>A (p.Ala2289Thr) single nucleotide variant not specified [RCV004376852] Chr2:84681477 [GRCh38]
Chr2:84908601 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10541T>C (p.Ile3514Thr) single nucleotide variant not specified [RCV004376815] Chr2:84762783 [GRCh38]
Chr2:84989907 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2170C>T (p.Pro724Ser) single nucleotide variant not specified [RCV004376830] Chr2:84579620 [GRCh38]
Chr2:84806744 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.284G>A (p.Arg95Gln) single nucleotide variant not specified [RCV004376833] Chr2:84525623 [GRCh38]
Chr2:84752747 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3500A>G (p.Asn1167Ser) single nucleotide variant not specified [RCV004376837] Chr2:84616910 [GRCh38]
Chr2:84844034 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7697G>A (p.Ser2566Asn) single nucleotide variant not specified [RCV004376858] Chr2:84699613 [GRCh38]
Chr2:84926737 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7757G>A (p.Arg2586Gln) single nucleotide variant not specified [RCV004376860] Chr2:84699673 [GRCh38]
Chr2:84926797 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7952G>A (p.Arg2651His) single nucleotide variant not specified [RCV004376862] Chr2:84701230 [GRCh38]
Chr2:84928354 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4926C>T (p.Tyr1642=) single nucleotide variant DNAH6-related disorder [RCV003971679] Chr2:84640534 [GRCh38]
Chr2:84867658 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.4245C>T (p.Tyr1415=) single nucleotide variant DNAH6-related disorder [RCV003957116] Chr2:84624512 [GRCh38]
Chr2:84851636 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.10840C>T (p.Leu3614Phe) single nucleotide variant not specified [RCV004376816] Chr2:84781629 [GRCh38]
Chr2:85008753 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11395G>A (p.Glu3799Lys) single nucleotide variant not specified [RCV004376818] Chr2:84797572 [GRCh38]
Chr2:85024696 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1418G>A (p.Arg473Gln) single nucleotide variant not specified [RCV004376825] Chr2:84549990 [GRCh38]
Chr2:84777114 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2458A>G (p.Asn820Asp) single nucleotide variant not specified [RCV004376831] Chr2:84584227 [GRCh38]
Chr2:84811351 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2606T>G (p.Phe869Cys) single nucleotide variant not specified [RCV004376832] Chr2:84588950 [GRCh38]
Chr2:84816074 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2851G>A (p.Glu951Lys) single nucleotide variant not specified [RCV004376834] Chr2:84595772 [GRCh38]
Chr2:84822896 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3386A>G (p.Lys1129Arg) single nucleotide variant not specified [RCV004376835] Chr2:84611765 [GRCh38]
Chr2:84838889 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4103G>A (p.Gly1368Asp) single nucleotide variant not specified [RCV004376840] Chr2:84624296 [GRCh38]
Chr2:84851420 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.551G>C (p.Arg184Pro) single nucleotide variant not specified [RCV004376846] Chr2:84529055 [GRCh38]
Chr2:84756179 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6905A>G (p.Lys2302Arg) single nucleotide variant not specified [RCV004376854] Chr2:84681517 [GRCh38]
Chr2:84908641 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7104G>T (p.Leu2368Phe) single nucleotide variant not specified [RCV004376855] Chr2:84686524 [GRCh38]
Chr2:84913648 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7756C>T (p.Arg2586Trp) single nucleotide variant not specified [RCV004376859] Chr2:84699672 [GRCh38]
Chr2:84926796 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10493A>T (p.Lys3498Ile) single nucleotide variant not specified [RCV004376814] Chr2:84745230 [GRCh38]
Chr2:84972354 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11710C>T (p.Arg3904Trp) single nucleotide variant not specified [RCV004376819] Chr2:84808513 [GRCh38]
Chr2:85035637 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11987G>A (p.Gly3996Glu) single nucleotide variant not specified [RCV004376821] Chr2:84813119 [GRCh38]
Chr2:85040243 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.12394G>A (p.Val4132Ile) single nucleotide variant not specified [RCV004376823] Chr2:84819325 [GRCh38]
Chr2:85046449 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1378G>A (p.Val460Ile) single nucleotide variant not specified [RCV004376824] Chr2:84549950 [GRCh38]
Chr2:84777074 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.2030G>A (p.Arg677Lys) single nucleotide variant not specified [RCV004376829] Chr2:84577362 [GRCh38]
Chr2:84804486 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.3403G>A (p.Asp1135Asn) single nucleotide variant not specified [RCV004376836] Chr2:84611782 [GRCh38]
Chr2:84838906 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3737C>G (p.Pro1246Arg) single nucleotide variant not specified [RCV004376839] Chr2:84619849 [GRCh38]
Chr2:84846973 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4114A>G (p.Lys1372Glu) single nucleotide variant not specified [RCV004376841] Chr2:84624307 [GRCh38]
Chr2:84851431 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4278A>C (p.Arg1426Ser) single nucleotide variant not specified [RCV004376842] Chr2:84624545 [GRCh38]
Chr2:84851669 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4321G>A (p.Ala1441Thr) single nucleotide variant not specified [RCV004376843] Chr2:84624588 [GRCh38]
Chr2:84851712 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.518A>G (p.His173Arg) single nucleotide variant not specified [RCV004376844] Chr2:84529022 [GRCh38]
Chr2:84756146 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.581G>T (p.Arg194Leu) single nucleotide variant not specified [RCV004376847] Chr2:84529085 [GRCh38]
Chr2:84756209 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5891G>A (p.Cys1964Tyr) single nucleotide variant not specified [RCV004376848] Chr2:84658425 [GRCh38]
Chr2:84885549 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.625C>T (p.Pro209Ser) single nucleotide variant not specified [RCV004376849] Chr2:84529129 [GRCh38]
Chr2:84756253 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7531G>A (p.Val2511Met) single nucleotide variant not specified [RCV004376857] Chr2:84697581 [GRCh38]
Chr2:84924705 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1773G>A (p.Lys591=) single nucleotide variant DNAH6-related disorder [RCV003951653] Chr2:84557905 [GRCh38]
Chr2:84785029 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.10723G>A (p.Gly3575Arg) single nucleotide variant Ciliary dyskinesia, primary, 45 [RCV003990527] Chr2:84781512 [GRCh38]
Chr2:85008636 [GRCh37]
Chr2:2p11.2
likely pathogenic
NM_001370.2(DNAH6):c.913T>G (p.Leu305Val) single nucleotide variant not specified [RCV004378946] Chr2:84544483 [GRCh38]
Chr2:84771607 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7970G>A (p.Arg2657His) single nucleotide variant not specified [RCV004378937] Chr2:84701248 [GRCh38]
Chr2:84928372 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8224G>A (p.Asp2742Asn) single nucleotide variant not specified [RCV004378939] Chr2:84703557 [GRCh38]
Chr2:84930681 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.868C>T (p.Arg290Cys) single nucleotide variant not specified [RCV004378944] Chr2:84544438 [GRCh38]
Chr2:84771562 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9400G>T (p.Ala3134Ser) single nucleotide variant not specified [RCV004378949] Chr2:84713116 [GRCh38]
Chr2:84940240 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.82A>C (p.Asn28His) single nucleotide variant not specified [RCV004378941] Chr2:84517908 [GRCh38]
Chr2:84745032 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8525T>C (p.Leu2842Ser) single nucleotide variant not specified [RCV004378943] Chr2:84705545 [GRCh38]
Chr2:84932669 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9175G>A (p.Asp3059Asn) single nucleotide variant not specified [RCV004378947] Chr2:84709469 [GRCh38]
Chr2:84936593 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9846G>C (p.Gln3282His) single nucleotide variant not specified [RCV004378953] Chr2:84722678 [GRCh38]
Chr2:84949802 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9860C>T (p.Ala3287Val) single nucleotide variant not specified [RCV004378954] Chr2:84722692 [GRCh38]
Chr2:84949816 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8230G>A (p.Val2744Ile) single nucleotide variant not specified [RCV004378940] Chr2:84704067 [GRCh38]
Chr2:84931191 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8466G>T (p.Lys2822Asn) single nucleotide variant not specified [RCV004378942] Chr2:84705486 [GRCh38]
Chr2:84932610 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9458G>A (p.Arg3153His) single nucleotide variant not specified [RCV004378950] Chr2:84713174 [GRCh38]
Chr2:84940298 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.9679A>G (p.Thr3227Ala) single nucleotide variant not specified [RCV004378951] Chr2:84718271 [GRCh38]
Chr2:84945395 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9311C>G (p.Thr3104Arg) single nucleotide variant not specified [RCV004378948] Chr2:84710345 [GRCh38]
Chr2:84937469 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9796A>G (p.Thr3266Ala) single nucleotide variant not specified [RCV004378952] Chr2:84722628 [GRCh38]
Chr2:84949752 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8707C>A (p.Gln2903Lys) single nucleotide variant not specified [RCV004378945] Chr2:84705727 [GRCh38]
Chr2:84932851 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.12328C>T (p.Pro4110Ser) single nucleotide variant not specified [RCV004621978] Chr2:84816038 [GRCh38]
Chr2:85043162 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8828G>A (p.Gly2943Asp) single nucleotide variant not specified [RCV004621992] Chr2:84706996 [GRCh38]
Chr2:84934120 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5004A>C (p.Glu1668Asp) single nucleotide variant not specified [RCV004622004] Chr2:84641980 [GRCh38]
Chr2:84869104 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.12064G>A (p.Val4022Ile) single nucleotide variant not specified [RCV004621981] Chr2:84814036 [GRCh38]
Chr2:85041160 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.12116T>C (p.Val4039Ala) single nucleotide variant not specified [RCV004621982] Chr2:84814088 [GRCh38]
Chr2:85041212 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4592T>C (p.Ile1531Thr) single nucleotide variant not specified [RCV004621994] Chr2:84634580 [GRCh38]
Chr2:84861704 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8288A>G (p.Gln2763Arg) single nucleotide variant not specified [RCV004621996] Chr2:84704125 [GRCh38]
Chr2:84931249 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1008G>T (p.Lys336Asn) single nucleotide variant not specified [RCV004621998] Chr2:84547345 [GRCh38]
Chr2:84774469 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11222C>T (p.Ala3741Val) single nucleotide variant not specified [RCV004621999] Chr2:84787285 [GRCh38]
Chr2:85014409 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7915G>A (p.Val2639Met) single nucleotide variant not specified [RCV004621979] Chr2:84701193 [GRCh38]
Chr2:84928317 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6880G>A (p.Val2294Ile) single nucleotide variant not specified [RCV004621980] Chr2:84681492 [GRCh38]
Chr2:84908616 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.8170T>A (p.Ser2724Thr) single nucleotide variant not specified [RCV004621985] Chr2:84703503 [GRCh38]
Chr2:84930627 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5368G>A (p.Val1790Ile) single nucleotide variant not specified [RCV004621986] Chr2:84653608 [GRCh38]
Chr2:84880732 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.3664G>A (p.Asp1222Asn) single nucleotide variant not provided [RCV004794689]|not specified [RCV004621988] Chr2:84619776 [GRCh38]
Chr2:84846900 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1241C>G (p.Pro414Arg) single nucleotide variant not specified [RCV004621990] Chr2:84548342 [GRCh38]
Chr2:84775466 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11800G>C (p.Glu3934Gln) single nucleotide variant not specified [RCV004621997] Chr2:84812401 [GRCh38]
Chr2:85039525 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10736G>A (p.Gly3579Glu) single nucleotide variant not specified [RCV004622001] Chr2:84781525 [GRCh38]
Chr2:85008649 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6032A>T (p.Asp2011Val) single nucleotide variant not specified [RCV004622002] Chr2:84659117 [GRCh38]
Chr2:84886241 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.12020G>A (p.Arg4007Gln) single nucleotide variant not provided [RCV004592120] Chr2:84813992 [GRCh38]
Chr2:85041116 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.9208A>G (p.Thr3070Ala) single nucleotide variant not specified [RCV004621983] Chr2:84709502 [GRCh38]
Chr2:84936626 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.73T>G (p.Ser25Ala) single nucleotide variant not specified [RCV004622000] Chr2:84517899 [GRCh38]
Chr2:84745023 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1673C>T (p.Ser558Leu) single nucleotide variant not specified [RCV004621987] Chr2:84557805 [GRCh38]
Chr2:84784929 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4355A>G (p.Asp1452Gly) single nucleotide variant not specified [RCV004621989] Chr2:84624903 [GRCh38]
Chr2:84852027 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.1906C>G (p.Leu636Val) single nucleotide variant not specified [RCV004621991] Chr2:84573569 [GRCh38]
Chr2:84800693 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11746C>G (p.Leu3916Val) single nucleotide variant not specified [RCV004622003] Chr2:84812347 [GRCh38]
Chr2:85039471 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7424G>A (p.Arg2475Gln) single nucleotide variant not specified [RCV004621977] Chr2:84694380 [GRCh38]
Chr2:84921504 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.6133A>G (p.Lys2045Glu) single nucleotide variant not specified [RCV004621993] Chr2:84669337 [GRCh38]
Chr2:84896461 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.10507G>C (p.Glu3503Gln) single nucleotide variant DNAH6-related disorder [RCV004754086] Chr2:84745244 [GRCh38]
Chr2:84972368 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11539A>G (p.Thr3847Ala) single nucleotide variant not provided [RCV004729264] Chr2:84805722 [GRCh38]
Chr2:85032846 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.594del (p.Gly200fs) deletion not provided [RCV004726083] Chr2:84529098 [GRCh38]
Chr2:84756222 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.5038A>G (p.Asn1680Asp) single nucleotide variant DNAH6-related disorder [RCV004732213] Chr2:84642014 [GRCh38]
Chr2:84869138 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.7997C>A (p.Ser2666Tyr) single nucleotide variant DNAH6-related disorder [RCV004754013] Chr2:84701275 [GRCh38]
Chr2:84928399 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.7064A>G (p.Asn2355Ser) single nucleotide variant DNAH6-related disorder [RCV004754032] Chr2:84686484 [GRCh38]
Chr2:84913608 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.7226A>G (p.Tyr2409Cys) single nucleotide variant DNAH6-related disorder [RCV004754088] Chr2:84688527 [GRCh38]
Chr2:84915651 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11230T>C (p.Tyr3744His) single nucleotide variant DNAH6-related disorder [RCV004732393] Chr2:84787293 [GRCh38]
Chr2:85014417 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.4542G>A (p.Leu1514=) single nucleotide variant DNAH6-related disorder [RCV004753797] Chr2:84634530 [GRCh38]
Chr2:84861654 [GRCh37]
Chr2:2p11.2
likely benign
NM_001370.2(DNAH6):c.836G>A (p.Trp279Ter) single nucleotide variant DNAH6-related disorder [RCV004753950] Chr2:84544406 [GRCh38]
Chr2:84771530 [GRCh37]
Chr2:2p11.2
uncertain significance
NM_001370.2(DNAH6):c.11998+7G>A single nucleotide variant DNAH6-related disorder [RCV004754018] Chr2:84813137 [GRCh38]
Chr2:85040261 [GRCh37]
Chr2:2p11.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:682
Count of miRNA genes:438
Interacting mature miRNAs:467
Transcripts:ENST00000237449, ENST00000389394, ENST00000398278, ENST00000468661, ENST00000476689, ENST00000494025, ENST00000602588
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597510895GWAS1606969_HDNA methylation QTL GWAS1606969 (human)5e-11DNA methylation28448763284487633Human
597181818GWAS1277892_Hfocal segmental glomerulosclerosis QTL GWAS1277892 (human)0.000002focal segmental glomerulosclerosis28452892584528926Human
407049664GWAS698640_Hcoronary artery calcification QTL GWAS698640 (human)0.000002coronary artery calcification28448209184482092Human
597074291GWAS1170365_Hmajor depressive disorder QTL GWAS1170365 (human)0.000002major depressive disorder28462848884628489Human
596964284GWAS1083803_Hmajor depressive disorder QTL GWAS1083803 (human)0.000002major depressive disorder28462848884628489Human
597076220GWAS1172294_Hlate-onset Alzheimers disease QTL GWAS1172294 (human)0.000005late-onset Alzheimers disease28459785284597853Human
597061132GWAS1157206_Hadolescent idiopathic scoliosis QTL GWAS1157206 (human)2e-10adolescent idiopathic scoliosis28463320684633207Human
407082030GWAS731006_Hunipolar depression QTL GWAS731006 (human)0.000002unipolar depression28462848884628489Human
406961998GWAS610974_Hhypospadias QTL GWAS610974 (human)4e-09hypospadias28467979184679792Human

Markers in Region
D2S440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37284,919,424 - 84,919,627UniSTSGRCh37
Build 36284,772,935 - 84,773,138RGDNCBI36
Celera284,748,219 - 84,748,414RGD
Cytogenetic Map2p11.2UniSTS
HuRef284,815,418 - 84,815,613UniSTS
Marshfield Genetic Map2103.16RGD
Marshfield Genetic Map2103.16UniSTS
TNG Radiation Hybrid Map253194.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
D2S2371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37284,988,794 - 84,988,972UniSTSGRCh37
Build 36284,842,305 - 84,842,483RGDNCBI36
Celera284,817,581 - 84,817,761RGD
Cytogenetic Map2p11.2UniSTS
HuRef284,884,797 - 84,884,977UniSTS
Marshfield Genetic Map2103.16UniSTS
Marshfield Genetic Map2103.16RGD
Genethon Genetic Map2107.7UniSTS
TNG Radiation Hybrid Map253235.0UniSTS
deCODE Assembly Map2107.88UniSTS
Stanford-G3 RH Map23541.0UniSTS
GeneMap99-GB4 RH Map2293.86UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map2460.4UniSTS
GeneMap99-G3 RH Map23452.0UniSTS
D2S394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37284,946,953 - 84,947,089UniSTSGRCh37
Build 36284,800,464 - 84,800,600RGDNCBI36
Celera284,775,741 - 84,775,877RGD
Cytogenetic Map2p11.2UniSTS
HuRef284,842,939 - 84,843,075UniSTS
Marshfield Genetic Map2103.16RGD
Marshfield Genetic Map2103.16UniSTS
Genethon Genetic Map2107.7UniSTS
deCODE Assembly Map2107.87UniSTS
Whitehead-YAC Contig Map2 UniSTS
UniSTS:4617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37284,946,947 - 84,947,127UniSTSGRCh37
Build 36284,800,458 - 84,800,638RGDNCBI36
Celera284,775,735 - 84,775,915RGD
HuRef284,842,933 - 84,843,113UniSTS
RH28433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37284,876,283 - 84,876,405UniSTSGRCh37
Build 36284,729,794 - 84,729,916RGDNCBI36
Celera284,705,064 - 84,705,186RGD
Cytogenetic Map2p11.2UniSTS
HuRef284,772,300 - 84,772,422UniSTS
SHGC-83772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37284,985,013 - 84,985,302UniSTSGRCh37
Build 36284,838,524 - 84,838,813RGDNCBI36
Celera284,813,800 - 84,814,089RGD
Cytogenetic Map2p11.2UniSTS
HuRef284,881,016 - 84,881,305UniSTS
TNG Radiation Hybrid Map253224.0UniSTS
SHGC-142405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37284,860,013 - 84,860,363UniSTSGRCh37
Build 36284,713,524 - 84,713,874RGDNCBI36
Celera284,688,873 - 84,689,223RGD
Cytogenetic Map2p11.2UniSTS
HuRef284,756,029 - 84,756,379UniSTS
TNG Radiation Hybrid Map253153.0UniSTS
SHGC-149107  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera284,636,361 - 84,636,708RGD
Cytogenetic Map2p11.2UniSTS
HuRef284,703,382 - 84,703,729UniSTS
TNG Radiation Hybrid Map253132.0UniSTS
D2S210E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37284,876,178 - 84,876,404UniSTSGRCh37
Build 36284,729,689 - 84,729,915RGDNCBI36
Celera284,704,959 - 84,705,185RGD
Cytogenetic Map2p11.2UniSTS
HuRef284,772,195 - 84,772,421UniSTS
TNG Radiation Hybrid Map253173.0UniSTS
GeneMap99-G3 RH Map23435.0UniSTS
D2S2041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37284,928,060 - 84,928,266UniSTSGRCh37
Build 36284,781,571 - 84,781,777RGDNCBI36
Celera284,756,847 - 84,757,053RGD
Cytogenetic Map2p11.2UniSTS
HuRef284,824,046 - 84,824,252UniSTS
Whitehead-YAC Contig Map2 UniSTS


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
visual system
1204 2427 2724 2218 4901 1704 2262 4 604 1766 447 2216 6965 6245 38 3717 808 1700 1547 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB290165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U61736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000389394   ⟹   ENSP00000374045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl284,516,498 - 84,819,589 (+)Ensembl
Ensembl Acc Id: ENST00000468661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl284,516,537 - 84,544,329 (+)Ensembl
Ensembl Acc Id: ENST00000476689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl284,516,455 - 84,584,854 (+)Ensembl
Ensembl Acc Id: ENST00000494025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl284,517,823 - 84,584,791 (+)Ensembl
Ensembl Acc Id: ENST00000602588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl284,658,307 - 84,697,842 (+)Ensembl
RefSeq Acc Id: NM_001370   ⟹   NP_001361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,516,498 - 84,819,589 (+)NCBI
GRCh37284,743,579 - 85,046,713 (+)RGD
Celera284,572,707 - 84,875,501 (+)RGD
HuRef284,639,804 - 84,942,713 (+)RGD
CHM1_1284,673,549 - 84,976,538 (+)NCBI
T2T-CHM13v2.0284,518,526 - 84,821,356 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711956   ⟹   XP_006712019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,516,498 - 84,819,589 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532649   ⟹   XP_011530951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,459,572 - 84,819,589 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532650   ⟹   XP_011530952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,459,572 - 84,819,589 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532652   ⟹   XP_011530954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,516,498 - 84,819,589 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532653   ⟹   XP_011530955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,516,498 - 84,819,589 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532654   ⟹   XP_011530956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,525,655 - 84,819,589 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532655   ⟹   XP_011530957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,529,078 - 84,819,589 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532657   ⟹   XP_011530959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,529,083 - 84,819,589 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532660   ⟹   XP_011530962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,516,498 - 84,681,444 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003521   ⟹   XP_016859010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,516,498 - 84,819,589 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003524   ⟹   XP_016859013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,516,498 - 84,685,451 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443589   ⟹   XP_047299545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,517,977 - 84,819,589 (+)NCBI
RefSeq Acc Id: XM_047443590   ⟹   XP_047299546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,557,847 - 84,819,589 (+)NCBI
RefSeq Acc Id: XM_054340887   ⟹   XP_054196862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,461,074 - 84,821,356 (+)NCBI
RefSeq Acc Id: XM_054340888   ⟹   XP_054196863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,461,074 - 84,821,356 (+)NCBI
RefSeq Acc Id: XM_054340889   ⟹   XP_054196864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,518,619 - 84,821,356 (+)NCBI
RefSeq Acc Id: XM_054340890   ⟹   XP_054196865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,518,526 - 84,821,356 (+)NCBI
RefSeq Acc Id: XM_054340891   ⟹   XP_054196866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,518,526 - 84,821,356 (+)NCBI
RefSeq Acc Id: XM_054340892   ⟹   XP_054196867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,518,526 - 84,821,356 (+)NCBI
RefSeq Acc Id: XM_054340893   ⟹   XP_054196868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,527,680 - 84,821,356 (+)NCBI
RefSeq Acc Id: XM_054340894   ⟹   XP_054196869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,531,104 - 84,821,356 (+)NCBI
RefSeq Acc Id: XM_054340895   ⟹   XP_054196870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,520,005 - 84,821,356 (+)NCBI
RefSeq Acc Id: XM_054340896   ⟹   XP_054196871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,531,104 - 84,821,356 (+)NCBI
RefSeq Acc Id: XM_054340897   ⟹   XP_054196872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,559,571 - 84,821,356 (+)NCBI
RefSeq Acc Id: XM_054340898   ⟹   XP_054196873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,518,526 - 84,683,228 (+)NCBI
RefSeq Acc Id: XM_054340899   ⟹   XP_054196874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0284,518,526 - 84,687,226 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001361 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712019 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530951 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530952 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530954 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530955 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530956 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530957 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530959 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530962 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859010 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859013 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299545 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299546 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196862 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196863 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196864 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196865 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196866 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196867 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196868 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196869 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196870 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196871 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196872 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196873 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196874 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50700 (Get FASTA)   NCBI Sequence Viewer  
  AAH15442 (Get FASTA)   NCBI Sequence Viewer  
  AAI04885 (Get FASTA)   NCBI Sequence Viewer  
  AAI13425 (Get FASTA)   NCBI Sequence Viewer  
  AAI17260 (Get FASTA)   NCBI Sequence Viewer  
  AAI43667 (Get FASTA)   NCBI Sequence Viewer  
  AAX93108 (Get FASTA)   NCBI Sequence Viewer  
  AAX93115 (Get FASTA)   NCBI Sequence Viewer  
  AAY24108 (Get FASTA)   NCBI Sequence Viewer  
  BAB15685 (Get FASTA)   NCBI Sequence Viewer  
  BAB21788 (Get FASTA)   NCBI Sequence Viewer  
  BAC04400 (Get FASTA)   NCBI Sequence Viewer  
  BAG06719 (Get FASTA)   NCBI Sequence Viewer  
  CAA10559 (Get FASTA)   NCBI Sequence Viewer  
  CAC21651 (Get FASTA)   NCBI Sequence Viewer  
  EAW99556 (Get FASTA)   NCBI Sequence Viewer  
  EAW99557 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000374045
  ENSP00000374045.3
GenBank Protein Q9C0G6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001361   ⟸   NM_001370
- UniProtKB: Q9C0G6 (UniProtKB/Swiss-Prot),   Q9H030 (UniProtKB/Swiss-Prot),   Q96BL6 (UniProtKB/Swiss-Prot),   Q92861 (UniProtKB/Swiss-Prot),   Q8N1W6 (UniProtKB/Swiss-Prot),   Q53TE5 (UniProtKB/Swiss-Prot),   Q53QZ1 (UniProtKB/Swiss-Prot),   O95493 (UniProtKB/Swiss-Prot),   B7ZL99 (UniProtKB/Swiss-Prot),   B5MEE0 (UniProtKB/Swiss-Prot),   A0PJN9 (UniProtKB/Swiss-Prot),   Q9H5E1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712019   ⟸   XM_006711956
- Peptide Label: isoform X1
- UniProtKB: Q9C0G6 (UniProtKB/Swiss-Prot),   Q9H030 (UniProtKB/Swiss-Prot),   Q96BL6 (UniProtKB/Swiss-Prot),   Q92861 (UniProtKB/Swiss-Prot),   Q8N1W6 (UniProtKB/Swiss-Prot),   Q53TE5 (UniProtKB/Swiss-Prot),   Q53QZ1 (UniProtKB/Swiss-Prot),   O95493 (UniProtKB/Swiss-Prot),   B7ZL99 (UniProtKB/Swiss-Prot),   B5MEE0 (UniProtKB/Swiss-Prot),   A0PJN9 (UniProtKB/Swiss-Prot),   Q9H5E1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011530952   ⟸   XM_011532650
- Peptide Label: isoform X1
- UniProtKB: Q9C0G6 (UniProtKB/Swiss-Prot),   Q9H030 (UniProtKB/Swiss-Prot),   Q96BL6 (UniProtKB/Swiss-Prot),   Q92861 (UniProtKB/Swiss-Prot),   Q8N1W6 (UniProtKB/Swiss-Prot),   Q53TE5 (UniProtKB/Swiss-Prot),   Q53QZ1 (UniProtKB/Swiss-Prot),   O95493 (UniProtKB/Swiss-Prot),   B7ZL99 (UniProtKB/Swiss-Prot),   B5MEE0 (UniProtKB/Swiss-Prot),   A0PJN9 (UniProtKB/Swiss-Prot),   Q9H5E1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011530951   ⟸   XM_011532649
- Peptide Label: isoform X1
- UniProtKB: Q9C0G6 (UniProtKB/Swiss-Prot),   Q9H030 (UniProtKB/Swiss-Prot),   Q96BL6 (UniProtKB/Swiss-Prot),   Q92861 (UniProtKB/Swiss-Prot),   Q8N1W6 (UniProtKB/Swiss-Prot),   Q53TE5 (UniProtKB/Swiss-Prot),   Q53QZ1 (UniProtKB/Swiss-Prot),   O95493 (UniProtKB/Swiss-Prot),   B7ZL99 (UniProtKB/Swiss-Prot),   B5MEE0 (UniProtKB/Swiss-Prot),   A0PJN9 (UniProtKB/Swiss-Prot),   Q9H5E1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011530955   ⟸   XM_011532653
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011530954   ⟸   XM_011532652
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011530962   ⟸   XM_011532660
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011530956   ⟸   XM_011532654
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011530959   ⟸   XM_011532657
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011530957   ⟸   XM_011532655
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016859010   ⟸   XM_017003521
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016859013   ⟸   XM_017003524
- Peptide Label: isoform X10
- Sequence:
Ensembl Acc Id: ENSP00000374045   ⟸   ENST00000389394
RefSeq Acc Id: XP_047299545   ⟸   XM_047443589
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047299546   ⟸   XM_047443590
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054196863   ⟸   XM_054340888
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054196862   ⟸   XM_054340887
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054196866   ⟸   XM_054340891
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054196865   ⟸   XM_054340890
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054196867   ⟸   XM_054340892
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054196874   ⟸   XM_054340899
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054196873   ⟸   XM_054340898
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054196864   ⟸   XM_054340889
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054196870   ⟸   XM_054340895
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054196868   ⟸   XM_054340893
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054196869   ⟸   XM_054340894
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054196871   ⟸   XM_054340896
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054196872   ⟸   XM_054340897
- Peptide Label: isoform X8

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9C0G6-F1-model_v2 AlphaFold Q9C0G6 1-1400 view protein structure
AF-Q9C0G6-F2-model_v2 AlphaFold Q9C0G6 201-1600 view protein structure
AF-Q9C0G6-F3-model_v2 AlphaFold Q9C0G6 401-1800 view protein structure
AF-Q9C0G6-F4-model_v2 AlphaFold Q9C0G6 601-2000 view protein structure
AF-Q9C0G6-F5-model_v2 AlphaFold Q9C0G6 801-2200 view protein structure
AF-Q9C0G6-F6-model_v2 AlphaFold Q9C0G6 1001-2400 view protein structure
AF-Q9C0G6-F7-model_v2 AlphaFold Q9C0G6 1201-2600 view protein structure
AF-Q9C0G6-F8-model_v2 AlphaFold Q9C0G6 1401-2800 view protein structure
AF-Q9C0G6-F9-model_v2 AlphaFold Q9C0G6 1601-3000 view protein structure
AF-Q9C0G6-F10-model_v2 AlphaFold Q9C0G6 1801-3200 view protein structure
AF-Q9C0G6-F11-model_v2 AlphaFold Q9C0G6 2001-3400 view protein structure
AF-Q9C0G6-F12-model_v2 AlphaFold Q9C0G6 2201-3600 view protein structure
AF-Q9C0G6-F13-model_v2 AlphaFold Q9C0G6 2401-3800 view protein structure
AF-Q9C0G6-F14-model_v2 AlphaFold Q9C0G6 2601-4000 view protein structure
AF-Q9C0G6-F15-model_v2 AlphaFold Q9C0G6 2801-4158 view protein structure

Promoters
RGD ID:6860854
Promoter ID:EPDNEW_H3592
Type:initiation region
Name:DNAH6_1
Description:dynein axonemal heavy chain 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3593  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,459,572 - 84,459,632EPDNEW
RGD ID:6860856
Promoter ID:EPDNEW_H3593
Type:initiation region
Name:DNAH6_2
Description:dynein axonemal heavy chain 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3592  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38284,516,498 - 84,516,558EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2951 AgrOrtholog
COSMIC DNAH6 COSMIC
Ensembl Genes ENSG00000115423 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000389394 ENTREZGENE
  ENST00000389394.8 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.2620 UniProtKB/Swiss-Prot
  1.10.8.1220 UniProtKB/Swiss-Prot
  1.10.8.710 UniProtKB/Swiss-Prot
  1.10.8.720 UniProtKB/Swiss-Prot
  1.20.1270.280 UniProtKB/Swiss-Prot
  1.20.140.100 UniProtKB/Swiss-Prot
  1.20.58.1120 UniProtKB/Swiss-Prot
  1.20.920.20 UniProtKB/Swiss-Prot
  1.20.920.30 UniProtKB/Swiss-Prot
  3.10.490.20 UniProtKB/Swiss-Prot
  3.20.180.20 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
  6.10.140.1060 UniProtKB/Swiss-Prot
GTEx ENSG00000115423 GTEx
HGNC ID HGNC:2951 ENTREZGENE
Human Proteome Map DNAH6 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot
  AAA_6 UniProtKB/Swiss-Prot
  AAA_9 UniProtKB/Swiss-Prot
  AAA_lid_11 UniProtKB/Swiss-Prot
  AAA_lid_11_sf UniProtKB/Swiss-Prot
  DHC_fam UniProtKB/Swiss-Prot
  DNAH3_AAA_lid_1 UniProtKB/Swiss-Prot
  Dynein_2_C UniProtKB/Swiss-Prot
  Dynein_2_N UniProtKB/Swiss-Prot
  Dynein_AAA1S UniProtKB/Swiss-Prot
  Dynein_AAA5_ext UniProtKB/Swiss-Prot
  Dynein_C UniProtKB/Swiss-Prot
  Dynein_C_barrel UniProtKB/Swiss-Prot
  Dynein_HC_stalk UniProtKB/Swiss-Prot
  Dynein_heavy_chain_D4_dom UniProtKB/Swiss-Prot
  Dynein_heavy_D6_P-loop UniProtKB/Swiss-Prot
  Dynein_heavy_dom-2 UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
KEGG Report hsa:1768 UniProtKB/Swiss-Prot
NCBI Gene 1768 ENTREZGENE
OMIM 603336 OMIM
PANTHER DYNEIN AXONEMAL HEAVY CHAIN 6 UniProtKB/Swiss-Prot
  DYNEIN HEAVY CHAIN 6, AXONEMAL-LIKE-RELATED UniProtKB/Swiss-Prot
Pfam AAA_6 UniProtKB/Swiss-Prot
  AAA_7 UniProtKB/Swiss-Prot
  AAA_8 UniProtKB/Swiss-Prot
  AAA_9 UniProtKB/Swiss-Prot
  AAA_lid_1 UniProtKB/Swiss-Prot
  AAA_lid_11 UniProtKB/Swiss-Prot
  DHC_N2 UniProtKB/Swiss-Prot
  Dynein_AAA_lid UniProtKB/Swiss-Prot
  Dynein_C UniProtKB/Swiss-Prot
  Dynein_heavy UniProtKB/Swiss-Prot
  PF12777 UniProtKB/Swiss-Prot
PharmGKB PA27404 PharmGKB
SMART AAA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt A0PJN9 ENTREZGENE
  B5MEE0 ENTREZGENE
  B7ZL99 ENTREZGENE
  DYH6_HUMAN UniProtKB/Swiss-Prot
  O95493 ENTREZGENE
  Q53QZ1 ENTREZGENE
  Q53TE5 ENTREZGENE
  Q8N1W6 ENTREZGENE
  Q92861 ENTREZGENE
  Q96BL6 ENTREZGENE
  Q9C0G6 ENTREZGENE
  Q9H030 ENTREZGENE
  Q9H5E1 ENTREZGENE
UniProt Secondary A0PJN9 UniProtKB/Swiss-Prot
  B5MEE0 UniProtKB/Swiss-Prot
  B7ZL99 UniProtKB/Swiss-Prot
  O95493 UniProtKB/Swiss-Prot
  Q53QZ1 UniProtKB/Swiss-Prot
  Q53TE5 UniProtKB/Swiss-Prot
  Q8N1W6 UniProtKB/Swiss-Prot
  Q92861 UniProtKB/Swiss-Prot
  Q96BL6 UniProtKB/Swiss-Prot
  Q9H030 UniProtKB/Swiss-Prot
  Q9H5E1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 DNAH6  dynein axonemal heavy chain 6  DNHL1  dynein heavy chain-like 1  Data merged from RGD:1603156 737654 PROVISIONAL
2016-04-01 DNAH6  dynein axonemal heavy chain 6  LOC200383  similar to Dynein heavy chain at 16F  Data merged from RGD:1606684 737654 PROVISIONAL
2016-03-07 DNAH6  dynein axonemal heavy chain 6  DNAH6  dynein, axonemal, heavy chain 6  Symbol and/or name change 5135510 APPROVED