DNHD1 (dynein heavy chain domain 1) - Rat Genome Database

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Gene: DNHD1 (dynein heavy chain domain 1) Homo sapiens
Analyze
Symbol: DNHD1
Name: dynein heavy chain domain 1
RGD ID: 1601824
HGNC Page HGNC:26532
Description: Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Involved in sperm flagellum assembly. Located in sperm flagellum. Implicated in spermatogenic failure 65.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C11orf47; CCDC35; chromosome 11 open reading frame 47; coiled-coil domain containing 35; coiled-coil domain-containing protein 35; DHCD1; DKFZp434G0812; DKFZp686J0796; DKFZp686N1238; DNHD1 variant protein; DNHD1L; dynein heavy chain domain 1-like; dynein heavy chain domain-containing protein 1; FLJ00251; FLJ32752; FLJ35709; FLJ39625; FLJ43897; FLJ46184; MGC133191; SPGF65
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,497,280 - 6,572,020 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl116,497,260 - 6,593,758 (+)EnsemblGRCh38hg38GRCh38
GRCh37116,518,510 - 6,593,250 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,543,911 - 6,549,825 (+)NCBINCBI36Build 36hg18NCBI36
Celera116,637,586 - 6,712,323 (+)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef116,177,598 - 6,252,412 (+)NCBIHuRef
CHM1_1116,517,654 - 6,592,369 (+)NCBICHM1_1
T2T-CHM13v2.0116,555,758 - 6,630,491 (+)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
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
Additional References at PubMed
PMID:12477932   PMID:12693554   PMID:12975309   PMID:14702039   PMID:15489334   PMID:16344560   PMID:17525332   PMID:19056867   PMID:20379614   PMID:21507953   PMID:21873635   PMID:22658674  
PMID:22990118   PMID:23725790   PMID:25036637   PMID:26460568   PMID:30021884   PMID:30948266   PMID:33961781   PMID:34932939   PMID:36243803   PMID:36768883  


Genomics

Comparative Map Data
DNHD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,497,280 - 6,572,020 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl116,497,260 - 6,593,758 (+)EnsemblGRCh38hg38GRCh38
GRCh37116,518,510 - 6,593,250 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,543,911 - 6,549,825 (+)NCBINCBI36Build 36hg18NCBI36
Celera116,637,586 - 6,712,323 (+)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef116,177,598 - 6,252,412 (+)NCBIHuRef
CHM1_1116,517,654 - 6,592,369 (+)NCBICHM1_1
T2T-CHM13v2.0116,555,758 - 6,630,491 (+)NCBIT2T-CHM13v2.0
Dnhd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397105,299,983 - 105,371,007 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7105,300,034 - 105,371,006 (+)EnsemblGRCm39 Ensembl
GRCm387105,650,776 - 105,721,800 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7105,650,827 - 105,721,799 (+)EnsemblGRCm38mm10GRCm38
MGSCv377112,799,341 - 112,854,161 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367105,525,514 - 105,595,620 (+)NCBIMGSCv36mm8
Celera7105,922,116 - 105,993,110 (+)NCBICelera
Cytogenetic Map7E3NCBI
cM Map755.93NCBI
Dnhd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81169,402,615 - 169,486,684 (+)NCBIGRCr8
mRatBN7.21159,990,785 - 160,077,990 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1159,990,438 - 160,074,858 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01170,473,792 - 170,570,220 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1170,471,272 - 170,565,063 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01177,487,073 - 177,576,072 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41163,380,065 - 163,467,261 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1157,923,188 - 158,012,263 (+)NCBICelera
Cytogenetic Map1q32NCBI
Dnhd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541422,231,843 - 22,300,770 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541422,230,887 - 22,300,804 (+)NCBIChiLan1.0ChiLan1.0
DNHD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v298,934,333 - 9,009,134 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1118,898,212 - 8,973,009 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0116,628,568 - 6,703,994 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1116,312,254 - 6,387,032 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl116,312,254 - 6,386,993 (+)Ensemblpanpan1.1panPan2
DNHD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12129,806,731 - 29,886,637 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2129,508,420 - 29,588,482 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02130,632,697 - 30,712,794 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12129,953,546 - 30,033,583 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02130,119,436 - 30,199,226 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02130,314,710 - 30,394,551 (+)NCBIUU_Cfam_GSD_1.0
Dnhd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494756,044,865 - 56,132,664 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936842543,702 - 630,585 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNHD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.193,177,007 - 3,242,892 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.293,834,047 - 3,901,295 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DNHD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1158,254,559 - 58,330,856 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl158,254,609 - 58,329,357 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038156,080,345 - 156,156,488 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnhd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248178,009,054 - 8,076,609 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNHD1
383 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 copy number gain See cases [RCV000053616] Chr11:3745061..7846057 [GRCh38]
Chr11:3766291..7867604 [GRCh37]
Chr11:3722867..7824180 [NCBI36]
Chr11:11p15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_144666.2(DNHD1):c.4135G>A (p.Glu1379Lys) single nucleotide variant Malignant melanoma [RCV000069609] Chr11:6545074 [GRCh38]
Chr11:6566304 [GRCh37]
Chr11:6522880 [NCBI36]
Chr11:11p15.4		 not provided
NM_144666.2(DNHD1):c.6249G>A (p.Trp2083Ter) single nucleotide variant Malignant melanoma [RCV000069610] Chr11:6547188 [GRCh38]
Chr11:6568418 [GRCh37]
Chr11:6524994 [NCBI36]
Chr11:11p15.4		 not provided
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3 copy number gain See cases [RCV000136804] Chr11:6261582..6637999 [GRCh38]
Chr11:6282812..6659230 [GRCh37]
Chr11:6239388..6615806 [NCBI36]
Chr11:11p15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
NM_144666.3(DNHD1):c.1631T>C (p.Val544Ala) single nucleotide variant Inborn genetic diseases [RCV003245759] Chr11:6519838 [GRCh38]
Chr11:6541068 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.4041C>A (p.Ser1347Arg) single nucleotide variant not provided [RCV000585272] Chr11:6544980 [GRCh38]
Chr11:6566210 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_144666.3(DNHD1):c.10006T>C (p.Tyr3336His) single nucleotide variant not provided [RCV000585614] Chr11:6563846 [GRCh38]
Chr11:6585076 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_144666.3(DNHD1):c.3043A>G (p.Ile1015Val) single nucleotide variant Inborn genetic diseases [RCV003248884] Chr11:6538427 [GRCh38]
Chr11:6559657 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.388A>G (p.Ile130Val) single nucleotide variant Inborn genetic diseases [RCV003281937] Chr11:6498603 [GRCh38]
Chr11:6519833 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13788G>C (p.Leu4596Phe) single nucleotide variant Inborn genetic diseases [RCV003259393] Chr11:6571300 [GRCh38]
Chr11:6592530 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_144666.3(DNHD1):c.6167C>T (p.Pro2056Leu) single nucleotide variant Inborn genetic diseases [RCV003292461] Chr11:6547106 [GRCh38]
Chr11:6568336 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.4190G>T (p.Arg1397Met) single nucleotide variant Inborn genetic diseases [RCV003251675] Chr11:6545129 [GRCh38]
Chr11:6566359 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.11552G>A (p.Arg3851Gln) single nucleotide variant Inborn genetic diseases [RCV003274928] Chr11:6567061 [GRCh38]
Chr11:6588291 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.3694G>A (p.Glu1232Lys) single nucleotide variant Inborn genetic diseases [RCV003295320] Chr11:6544186 [GRCh38]
Chr11:6565416 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_144666.3(DNHD1):c.1865A>C (p.Asp622Ala) single nucleotide variant DNHD1-related condition [RCV003980674]|not provided [RCV001541526] Chr11:6528549 [GRCh38]
Chr11:6549779 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.3009T>C (p.Thr1003=) single nucleotide variant not provided [RCV000936363] Chr11:6538393 [GRCh38]
Chr11:6559623 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.11040G>A (p.Glu3680=) single nucleotide variant not provided [RCV000914421] Chr11:6565978 [GRCh38]
Chr11:6587208 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.2448G>T (p.Met816Ile) single nucleotide variant not provided [RCV000761757] Chr11:6533127 [GRCh38]
Chr11:6554357 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7910T>C (p.Met2637Thr) single nucleotide variant not provided [RCV000761758] Chr11:6557205 [GRCh38]
Chr11:6578435 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13068A>C (p.Thr4356=) single nucleotide variant DNHD1-related condition [RCV003938145]|not provided [RCV000761759] Chr11:6570359 [GRCh38]
Chr11:6591589 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.13997T>C (p.Ile4666Thr) single nucleotide variant DNHD1-related condition [RCV003928263]|not provided [RCV000761760] Chr11:6571721 [GRCh38]
Chr11:6592951 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.1310A>G (p.Gln437Arg) single nucleotide variant not provided [RCV000994555] Chr11:6511347 [GRCh38]
Chr11:6532577 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9463G>A (p.Gly3155Ser) single nucleotide variant DNHD1-related condition [RCV003897953]|not provided [RCV000967190] Chr11:6559227 [GRCh38]
Chr11:6580457 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.2245C>T (p.Arg749Cys) single nucleotide variant not provided [RCV000906009] Chr11:6529019 [GRCh38]
Chr11:6550249 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.441T>G (p.Ala147=) single nucleotide variant not provided [RCV000928004] Chr11:6498656 [GRCh38]
Chr11:6519886 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.5769C>T (p.Leu1923=) single nucleotide variant not provided [RCV000906061] Chr11:6546708 [GRCh38]
Chr11:6567938 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.4908G>A (p.Ala1636=) single nucleotide variant DNHD1-related condition [RCV003950562]|not provided [RCV000900749] Chr11:6545847 [GRCh38]
Chr11:6567077 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.12539-1G>A single nucleotide variant DNHD1-related condition [RCV003932833]|not provided [RCV000901662] Chr11:6568453 [GRCh38]
Chr11:6589683 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.3306C>T (p.Asn1102=) single nucleotide variant not provided [RCV000906085] Chr11:6538791 [GRCh38]
Chr11:6560021 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.3534C>T (p.Tyr1178=) single nucleotide variant not provided [RCV000921675] Chr11:6539989 [GRCh38]
Chr11:6561219 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.13716G>C (p.Ala4572=) single nucleotide variant not provided [RCV000925770] Chr11:6571228 [GRCh38]
Chr11:6592458 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.6624G>A (p.Gln2208=) single nucleotide variant DNHD1-related condition [RCV003910381]|not provided [RCV000880856] Chr11:6547563 [GRCh38]
Chr11:6568793 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.11908A>G (p.Ser3970Gly) single nucleotide variant DNHD1-related condition [RCV003967981]|not provided [RCV000880857] Chr11:6567417 [GRCh38]
Chr11:6588647 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.4041C>T (p.Ser1347=) single nucleotide variant DNHD1-related condition [RCV003922982]|not provided [RCV000901820] Chr11:6544980 [GRCh38]
Chr11:6566210 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.1786-9G>T single nucleotide variant not provided [RCV000897769] Chr11:6520229 [GRCh38]
Chr11:6541459 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.7295G>A (p.Gly2432Asp) single nucleotide variant DNHD1-related condition [RCV003943180]|not provided [RCV000968666] Chr11:6548841 [GRCh38]
Chr11:6570071 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.5976C>A (p.Gly1992=) single nucleotide variant not provided [RCV000903902] Chr11:6546915 [GRCh38]
Chr11:6568145 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.9122T>C (p.Ile3041Thr) single nucleotide variant DNHD1-related condition [RCV003940815]|not provided [RCV000898123] Chr11:6558604 [GRCh38]
Chr11:6579834 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.12000T>G (p.Val4000=) single nucleotide variant not provided [RCV000922175] Chr11:6567509 [GRCh38]
Chr11:6588739 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.1323C>T (p.Ala441=) single nucleotide variant DNHD1-related condition [RCV003910624]|not provided [RCV000892703] Chr11:6511360 [GRCh38]
Chr11:6532590 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.7818C>T (p.Asn2606=) single nucleotide variant DNHD1-related condition [RCV003953323]|not provided [RCV000973142] Chr11:6557113 [GRCh38]
Chr11:6578343 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.116A>G (p.Gln39Arg) single nucleotide variant DNHD1-related condition [RCV003936098]|not provided [RCV000970467] Chr11:6498331 [GRCh38]
Chr11:6519561 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.6064G>C (p.Gly2022Arg) single nucleotide variant DNHD1-related condition [RCV003978207]|not provided [RCV000950198] Chr11:6547003 [GRCh38]
Chr11:6568233 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.6159C>A (p.Gly2053=) single nucleotide variant not provided [RCV000884567] Chr11:6547098 [GRCh38]
Chr11:6568328 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.9084C>T (p.Thr3028=) single nucleotide variant not provided [RCV000980967] Chr11:6558566 [GRCh38]
Chr11:6579796 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.7575G>A (p.Leu2525=) single nucleotide variant DNHD1-related condition [RCV003918521]|not provided [RCV000973249] Chr11:6556870 [GRCh38]
Chr11:6578100 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.8904C>A (p.Gly2968=) single nucleotide variant not provided [RCV000881313] Chr11:6558199 [GRCh38]
Chr11:6579429 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.1134G>C (p.Lys378Asn) single nucleotide variant DNHD1-related condition [RCV003962884]|not provided [RCV000971575] Chr11:6509171 [GRCh38]
Chr11:6530401 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.1086A>G (p.Pro362=) single nucleotide variant DNHD1-related condition [RCV003983805]|not provided [RCV000972118] Chr11:6509045 [GRCh38]
Chr11:6530275 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.7646G>A (p.Arg2549His) single nucleotide variant DNHD1-related condition [RCV003936140]|not provided [RCV000972119] Chr11:6556941 [GRCh38]
Chr11:6578171 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.5478A>G (p.Ala1826=) single nucleotide variant not provided [RCV000922174] Chr11:6546417 [GRCh38]
Chr11:6567647 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.9639G>A (p.Leu3213=) single nucleotide variant DNHD1-related condition [RCV003968210]|not provided [RCV000898124] Chr11:6563101 [GRCh38]
Chr11:6584331 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.10704G>A (p.Pro3568=) single nucleotide variant not provided [RCV000905936] Chr11:6564752 [GRCh38]
Chr11:6585982 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.5904C>T (p.Ser1968=) single nucleotide variant DNHD1-related condition [RCV003910786]|not provided [RCV000903229] Chr11:6546843 [GRCh38]
Chr11:6568073 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.3246G>A (p.Glu1082=) single nucleotide variant DNHD1-related condition [RCV003903266]|not provided [RCV000954714] Chr11:6538731 [GRCh38]
Chr11:6559961 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.8960T>C (p.Leu2987Pro) single nucleotide variant DNHD1-related condition [RCV003958092]|not provided [RCV000898122] Chr11:6558255 [GRCh38]
Chr11:6579485 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.5264G>A (p.Arg1755His) single nucleotide variant DNHD1-related condition [RCV003903202]|not provided [RCV000950197] Chr11:6546203 [GRCh38]
Chr11:6567433 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.10372C>G (p.Arg3458Gly) single nucleotide variant DNHD1-related condition [RCV003968315]|not provided [RCV000905842] Chr11:6564420 [GRCh38]
Chr11:6585650 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.4072C>T (p.Arg1358Cys) single nucleotide variant DNHD1-related condition [RCV003922857]|Spermatogenic failure 65 [RCV002260101]|not provided [RCV000895661] Chr11:6545011 [GRCh38]
Chr11:6566241 [GRCh37]
Chr11:11p15.4		 benign|uncertain significance
NM_144666.3(DNHD1):c.13729C>T (p.Pro4577Ser) single nucleotide variant DNHD1-related condition [RCV003922828]|not provided [RCV000894425] Chr11:6571241 [GRCh38]
Chr11:6592471 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.5657G>A (p.Arg1886Gln) single nucleotide variant DNHD1-related condition [RCV003943179]|not provided [RCV000968665] Chr11:6546596 [GRCh38]
Chr11:6567826 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.9936C>T (p.Asp3312=) single nucleotide variant not provided [RCV000909169] Chr11:6563776 [GRCh38]
Chr11:6585006 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.70C>A (p.His24Asn) single nucleotide variant DNHD1-related condition [RCV003916151]|not provided [RCV000964318] Chr11:6498285 [GRCh38]
Chr11:6519515 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.9598G>C (p.Glu3200Gln) single nucleotide variant DNHD1-related condition [RCV003930469]|not provided [RCV000879041] Chr11:6563060 [GRCh38]
Chr11:6584290 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.4060G>A (p.Ala1354Thr) single nucleotide variant DNHD1-related condition [RCV003970464]|Spermatogenic failure 65 [RCV002502788]|not provided [RCV000918390] Chr11:6544999 [GRCh38]
Chr11:6566229 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.85T>C (p.Leu29=) single nucleotide variant not provided [RCV000894236] Chr11:6498300 [GRCh38]
Chr11:6519530 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.13312C>T (p.Arg4438Ter) single nucleotide variant DNHD1-related condition [RCV003968224]|not provided [RCV000899318] Chr11:6570824 [GRCh38]
Chr11:6592054 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.6813C>T (p.Asp2271=) single nucleotide variant not provided [RCV000928502] Chr11:6547948 [GRCh38]
Chr11:6569178 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.1848A>G (p.Glu616=) single nucleotide variant not provided [RCV000977789] Chr11:6528532 [GRCh38]
Chr11:6549762 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.5793G>A (p.Leu1931=) single nucleotide variant DNHD1-related condition [RCV003926003]|not provided [RCV000954276] Chr11:6546732 [GRCh38]
Chr11:6567962 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.1125T>C (p.Cys375=) single nucleotide variant DNHD1-related condition [RCV003960534]|not provided [RCV000938687] Chr11:6509162 [GRCh38]
Chr11:6530392 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.8116C>A (p.Pro2706Thr) single nucleotide variant DNHD1-related condition [RCV003903195]|not provided [RCV000949550] Chr11:6557411 [GRCh38]
Chr11:6578641 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.7509T>C (p.Thr2503=) single nucleotide variant not provided [RCV000919221] Chr11:6556804 [GRCh38]
Chr11:6578034 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.14111T>G (p.Val4704Gly) single nucleotide variant Inborn genetic diseases [RCV003267074] Chr11:6571835 [GRCh38]
Chr11:6593065 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1621A>C (p.Thr541Pro) single nucleotide variant Inborn genetic diseases [RCV003270608] Chr11:6519828 [GRCh38]
Chr11:6541058 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.4080C>G (p.Phe1360Leu) single nucleotide variant DNHD1-related condition [RCV003910597]|not provided [RCV000891524] Chr11:6545019 [GRCh38]
Chr11:6566249 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.284G>A (p.Arg95His) single nucleotide variant Inborn genetic diseases [RCV003288997] Chr11:6498499 [GRCh38]
Chr11:6519729 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12997A>C (p.Arg4333=) single nucleotide variant not provided [RCV000976060] Chr11:6570288 [GRCh38]
Chr11:6591518 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.890A>G (p.Tyr297Cys) single nucleotide variant not provided [RCV000891617] Chr11:6502896 [GRCh38]
Chr11:6524126 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.13105+1G>T single nucleotide variant DNHD1-related condition [RCV003935921]|not provided [RCV000959709] Chr11:6570397 [GRCh38]
Chr11:6591627 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.12491C>T (p.Pro4164Leu) single nucleotide variant not provided [RCV000891764] Chr11:6568195 [GRCh38]
Chr11:6589425 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.7623T>C (p.Pro2541=) single nucleotide variant DNHD1-related condition [RCV003935925]|not provided [RCV000959900] Chr11:6556918 [GRCh38]
Chr11:6578148 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.1785+10A>G single nucleotide variant not provided [RCV000936689] Chr11:6520112 [GRCh38]
Chr11:6541342 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.1473C>T (p.Gly491=) single nucleotide variant not provided [RCV000914765] Chr11:6519680 [GRCh38]
Chr11:6540910 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.3612C>T (p.Gly1204=) single nucleotide variant DNHD1-related condition [RCV003928318]|not provided [RCV000842737] Chr11:6540067 [GRCh38]
Chr11:6561297 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.6090C>T (p.His2030=) single nucleotide variant not provided [RCV000977829] Chr11:6547029 [GRCh38]
Chr11:6568259 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.2305G>A (p.Gly769Arg) single nucleotide variant DNHD1-related condition [RCV003975347]|not provided [RCV000833623] Chr11:6529079 [GRCh38]
Chr11:6550309 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.11979A>G (p.Leu3993=) single nucleotide variant DNHD1-related condition [RCV003958030]|not provided [RCV000895662] Chr11:6567488 [GRCh38]
Chr11:6588718 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.12662-6C>T single nucleotide variant not provided [RCV000897900] Chr11:6568659 [GRCh38]
Chr11:6589889 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.13221A>G (p.Arg4407=) single nucleotide variant not provided [RCV000940395] Chr11:6570733 [GRCh38]
Chr11:6591963 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.2532C>T (p.Val844=) single nucleotide variant not provided [RCV000918753] Chr11:6533707 [GRCh38]
Chr11:6554937 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.12728T>C (p.Ile4243Thr) single nucleotide variant not provided [RCV000917255] Chr11:6568731 [GRCh38]
Chr11:6589961 [GRCh37]
Chr11:11p15.4		 benign
GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3 copy number gain not provided [RCV000849971] Chr11:5896551..6719852 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_144666.3(DNHD1):c.2683C>T (p.Gln895Ter) single nucleotide variant DNHD1-related condition [RCV003392722]|not provided [RCV000994556] Chr11:6533858 [GRCh38]
Chr11:6555088 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_144666.3(DNHD1):c.12853_12854del (p.Arg4285fs) deletion not provided [RCV000994559] Chr11:6568856..6568857 [GRCh38]
Chr11:6590086..6590087 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7478C>T (p.Thr2493Met) single nucleotide variant Inborn genetic diseases [RCV003251261] Chr11:6556773 [GRCh38]
Chr11:6578003 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1625C>T (p.Ser542Phe) single nucleotide variant Inborn genetic diseases [RCV003292540] Chr11:6519832 [GRCh38]
Chr11:6541062 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12240del (p.Lys4080fs) deletion not provided [RCV000994558] Chr11:6567747 [GRCh38]
Chr11:6588977 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_144666.3(DNHD1):c.9973A>C (p.Ser3325Arg) single nucleotide variant Inborn genetic diseases [RCV003273481] Chr11:6563813 [GRCh38]
Chr11:6585043 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9740G>A (p.Arg3247Gln) single nucleotide variant Inborn genetic diseases [RCV003241188] Chr11:6563452 [GRCh38]
Chr11:6584682 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10796C>T (p.Thr3599Met) single nucleotide variant DNHD1-related condition [RCV003932893]|Inborn genetic diseases [RCV002537578]|not provided [RCV000904891] Chr11:6565734 [GRCh38]
Chr11:6586964 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.10329A>G (p.Leu3443=) single nucleotide variant not provided [RCV000911028] Chr11:6564377 [GRCh38]
Chr11:6585607 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.13983G>A (p.Ala4661=) single nucleotide variant not provided [RCV000930397] Chr11:6571707 [GRCh38]
Chr11:6592937 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.12987C>T (p.Asp4329=) single nucleotide variant not provided [RCV000903045] Chr11:6570278 [GRCh38]
Chr11:6591508 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.9G>A (p.Pro3=) single nucleotide variant DNHD1-related condition [RCV003925908]|not provided [RCV000949549] Chr11:6498224 [GRCh38]
Chr11:6519454 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.6576C>T (p.Phe2192=) single nucleotide variant not provided [RCV000939618] Chr11:6547515 [GRCh38]
Chr11:6568745 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.898G>A (p.Val300Met) single nucleotide variant DNHD1-related condition [RCV003925963]|not provided [RCV000952958] Chr11:6502904 [GRCh38]
Chr11:6524134 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.12381G>C (p.Leu4127=) single nucleotide variant not provided [RCV000931114] Chr11:6568085 [GRCh38]
Chr11:6589315 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.2839G>T (p.Glu947Ter) single nucleotide variant DNHD1-related condition [RCV003978270]|Essential tremor [RCV001543348]|Spermatogenic failure 65 [RCV002502963]|not provided [RCV000954632] Chr11:6534014 [GRCh38]
Chr11:6555244 [GRCh37]
Chr11:11p15.4		 likely pathogenic|benign|likely benign
NM_144666.3(DNHD1):c.3736G>A (p.Ala1246Thr) single nucleotide variant DNHD1-related condition [RCV003930717]|not provided [RCV000888251] Chr11:6544228 [GRCh38]
Chr11:6565458 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.6186C>T (p.Ala2062=) single nucleotide variant DNHD1-related condition [RCV003905846]|not provided [RCV000962106] Chr11:6547125 [GRCh38]
Chr11:6568355 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.3387T>C (p.Tyr1129=) single nucleotide variant not provided [RCV000917067] Chr11:6539280 [GRCh38]
Chr11:6560510 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.12770C>A (p.Pro4257His) single nucleotide variant DNHD1-related condition [RCV003928582]|not provided [RCV000974258] Chr11:6568773 [GRCh38]
Chr11:6590003 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.6109A>G (p.Ser2037Gly) single nucleotide variant not provided [RCV000953288] Chr11:6547048 [GRCh38]
Chr11:6568278 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.11420C>T (p.Pro3807Leu) single nucleotide variant DNHD1-related condition [RCV003968211]|not provided [RCV000898125] Chr11:6566929 [GRCh38]
Chr11:6588159 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.4953C>T (p.Tyr1651=) single nucleotide variant not provided [RCV000931423] Chr11:6545892 [GRCh38]
Chr11:6567122 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.753G>A (p.Gln251=) single nucleotide variant not provided [RCV000951115] Chr11:6502759 [GRCh38]
Chr11:6523989 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.9895C>A (p.Leu3299Met) single nucleotide variant DNHD1-related condition [RCV003932944]|not provided [RCV000908926] Chr11:6563735 [GRCh38]
Chr11:6584965 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.3362T>C (p.Leu1121Pro) single nucleotide variant not provided [RCV000977790] Chr11:6539255 [GRCh38]
Chr11:6560485 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.6618G>A (p.Gly2206=) single nucleotide variant DNHD1-related condition [RCV003935816]|not provided [RCV000953452] Chr11:6547557 [GRCh38]
Chr11:6568787 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.8018T>C (p.Leu2673Pro) single nucleotide variant not provided [RCV000935777] Chr11:6557313 [GRCh38]
Chr11:6578543 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.13582C>T (p.Leu4528Phe) single nucleotide variant DNHD1-related condition [RCV003902918]|not provided [RCV000913279] Chr11:6571094 [GRCh38]
Chr11:6592324 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.12931C>T (p.Arg4311Cys) single nucleotide variant DNHD1-related condition [RCV003933015]|not provided [RCV000913329] Chr11:6570076 [GRCh38]
Chr11:6591306 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.12774C>A (p.Pro4258=) single nucleotide variant DNHD1-related condition [RCV003925813]|not provided [RCV000933730] Chr11:6568777 [GRCh38]
Chr11:6590007 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.784T>G (p.Phe262Val) single nucleotide variant not provided [RCV000891467] Chr11:6502790 [GRCh38]
Chr11:6524020 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.9961C>T (p.Arg3321Ter) single nucleotide variant not provided [RCV000891468] Chr11:6563801 [GRCh38]
Chr11:6585031 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.3899G>A (p.Arg1300His) single nucleotide variant not provided [RCV000933792] Chr11:6544838 [GRCh38]
Chr11:6566068 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.1392+9C>G single nucleotide variant DNHD1-related condition [RCV003903297]|not provided [RCV000956889] Chr11:6511438 [GRCh38]
Chr11:6532668 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.8649G>A (p.Arg2883=) single nucleotide variant not provided [RCV000889690] Chr11:6557944 [GRCh38]
Chr11:6579174 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.1160G>A (p.Arg387Gln) single nucleotide variant DNHD1-related condition [RCV003913022]|not provided [RCV000911765] Chr11:6509197 [GRCh38]
Chr11:6530427 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.2561G>A (p.Arg854Gln) single nucleotide variant DNHD1-related condition [RCV003930763]|not provided [RCV000889916] Chr11:6533736 [GRCh38]
Chr11:6554966 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.9792C>T (p.Phe3264=) single nucleotide variant DNHD1-related condition [RCV003950389]|not provided [RCV000891272] Chr11:6563504 [GRCh38]
Chr11:6584734 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.5760C>T (p.Leu1920=) single nucleotide variant not provided [RCV000933989] Chr11:6546699 [GRCh38]
Chr11:6567929 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.7771C>T (p.Leu2591=) single nucleotide variant not provided [RCV000912233] Chr11:6557066 [GRCh38]
Chr11:6578296 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.1482C>T (p.Tyr494=) single nucleotide variant DNHD1-related condition [RCV003960677]|not provided [RCV000956890] Chr11:6519689 [GRCh38]
Chr11:6540919 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.6664C>T (p.Arg2222Cys) single nucleotide variant DNHD1-related condition [RCV003960678]|not provided [RCV000956891] Chr11:6547603 [GRCh38]
Chr11:6568833 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.14244C>T (p.Cys4748=) single nucleotide variant not provided [RCV000956892] Chr11:6571968 [GRCh38]
Chr11:6593198 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.950A>G (p.Asp317Gly) single nucleotide variant DNHD1-related condition [RCV003950766]|not provided [RCV000912571] Chr11:6508909 [GRCh38]
Chr11:6530139 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.7695G>A (p.Arg2565=) single nucleotide variant not provided [RCV000935197] Chr11:6556990 [GRCh38]
Chr11:6578220 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.2909C>A (p.Thr970Asn) single nucleotide variant not provided [RCV000994557] Chr11:6534084 [GRCh38]
Chr11:6555314 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.14234T>C (p.Val4745Ala) single nucleotide variant DNHD1-related condition [RCV003960971]|Spermatogenic failure 65 [RCV002260509] Chr11:6571958 [GRCh38]
Chr11:6593188 [GRCh37]
Chr11:11p15.4		 benign|uncertain significance
NM_144666.3(DNHD1):c.10004A>G (p.His3335Arg) single nucleotide variant Global developmental delay [RCV001263276] Chr11:6563844 [GRCh38]
Chr11:6585074 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12485A>T (p.His4162Leu) single nucleotide variant Global developmental delay [RCV001263277] Chr11:6568189 [GRCh38]
Chr11:6589419 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5737_5738insATGCCCTACTGC (p.Leu1912_Arg1913insHisAlaLeuLeu) insertion not provided [RCV001658444]|not specified [RCV001732223] Chr11:6546665..6546666 [GRCh38]
Chr11:6567895..6567896 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.7120G>A (p.Val2374Met) single nucleotide variant DNHD1-related condition [RCV003980675]|not provided [RCV001541723] Chr11:6548666 [GRCh38]
Chr11:6569896 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.2081A>G (p.Asn694Ser) single nucleotide variant DNHD1-related condition [RCV003976051]|not provided [RCV001708928] Chr11:6528765 [GRCh38]
Chr11:6549995 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.2536C>A (p.Leu846Met) single nucleotide variant DNHD1-related condition [RCV003980854]|not provided [RCV001648440] Chr11:6533711 [GRCh38]
Chr11:6554941 [GRCh37]
Chr11:11p15.4		 benign
NC_000011.9:g.(?_5709028)_(6640651_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032559] Chr11:5709028..6640651 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2090A>G (p.Gln697Arg) single nucleotide variant DNHD1-related condition [RCV003976025]|not provided [RCV001691873] Chr11:6528774 [GRCh38]
Chr11:6550004 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.10717G>T (p.Glu3573Ter) single nucleotide variant See cases [RCV001198253]|not provided [RCV002561061] Chr11:6564765 [GRCh38]
Chr11:6585995 [GRCh37]
Chr11:11p15.4		 pathogenic|uncertain significance
NM_144666.3(DNHD1):c.13285C>T (p.Arg4429Ter) single nucleotide variant See cases [RCV001198254] Chr11:6570797 [GRCh38]
Chr11:6592027 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9623G>T (p.Arg3208Met) single nucleotide variant not provided [RCV001029740] Chr11:6563085 [GRCh38]
Chr11:6584315 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5617C>A (p.Arg1873Ser) single nucleotide variant DNHD1-related condition [RCV003906148]|not provided [RCV001029741] Chr11:6546556 [GRCh38]
Chr11:6567786 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_144666.3(DNHD1):c.4328A>C (p.Asp1443Ala) single nucleotide variant not provided [RCV001364145] Chr11:6545267 [GRCh38]
Chr11:6566497 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6610G>A (p.Val2204Ile) single nucleotide variant not provided [RCV001366245] Chr11:6547549 [GRCh38]
Chr11:6568779 [GRCh37]
Chr11:11p15.4		 uncertain significance
NC_000011.9:g.(?_5709028)_(6640651_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032559]|not provided [RCV001327815] Chr11:5709028..6640651 [GRCh37]
Chr11:11p15.4		 uncertain significance|no classifications from unflagged records
NC_000011.9:g.(?_6559613)_(6640631_?)del deletion not provided [RCV001386249] Chr11:6559613..6640631 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.1252C>T (p.His418Tyr) single nucleotide variant DNHD1-related condition [RCV003975941]|not provided [RCV001686808] Chr11:6511289 [GRCh38]
Chr11:6532519 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.4141C>T (p.Gln1381Ter) single nucleotide variant Spermatogenic failure 65 [RCV002260507] Chr11:6545080 [GRCh38]
Chr11:6566310 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_144666.3(DNHD1):c.6868G>A (p.Ala2290Thr) single nucleotide variant not provided [RCV001784109] Chr11:6548003 [GRCh38]
Chr11:6569233 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1201C>A (p.Pro401Thr) single nucleotide variant not provided [RCV001785199] Chr11:6509238 [GRCh38]
Chr11:6530468 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.8909A>G (p.Tyr2970Cys) single nucleotide variant Spermatogenic failure 65 [RCV001814635] Chr11:6558204 [GRCh38]
Chr11:6579434 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.522_525del (p.Arg174fs) microsatellite Spermatogenic failure 65 [RCV001814636]|not provided [RCV002542456] Chr11:6498733..6498736 [GRCh38]
Chr11:6519963..6519966 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.8782C>T (p.Arg2928Ter) single nucleotide variant Spermatogenic failure 65 [RCV001814634] Chr11:6558077 [GRCh38]
Chr11:6579307 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic
NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter) single nucleotide variant Spermatogenic failure 65 [RCV001814633] Chr11:6547437 [GRCh38]
Chr11:6568667 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic
NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys) single nucleotide variant Spermatogenic failure 65 [RCV001814632] Chr11:6546499 [GRCh38]
Chr11:6567729 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic
NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln) single nucleotide variant Spermatogenic failure 65 [RCV001814637] Chr11:6502917 [GRCh38]
Chr11:6524147 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic
NM_144666.3(DNHD1):c.8519G>A (p.Arg2840Gln) single nucleotide variant DNHD1-related Neurodevelopmental Disorder [RCV001839354] Chr11:6557814 [GRCh38]
Chr11:6579044 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13456G>A (p.Glu4486Lys) single nucleotide variant DNHD1-related Neurodevelopmental Disorder [RCV001839355]|Inborn genetic diseases [RCV002543256] Chr11:6570968 [GRCh38]
Chr11:6592198 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3 copy number gain not provided [RCV001836564] Chr11:6502523..7248333 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10624C>T (p.Arg3542Ter) single nucleotide variant not provided [RCV001999594] Chr11:6564672 [GRCh38]
Chr11:6585902 [GRCh37]
Chr11:11p15.4		 pathogenic|uncertain significance
NM_144666.3(DNHD1):c.6964C>T (p.Pro2322Ser) single nucleotide variant not provided [RCV002010993] Chr11:6548268 [GRCh38]
Chr11:6569498 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.4457A>G (p.Lys1486Arg) single nucleotide variant not provided [RCV001916976] Chr11:6545396 [GRCh38]
Chr11:6566626 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6697C>T (p.Arg2233Cys) single nucleotide variant DNHD1-related condition [RCV003926330]|not provided [RCV002226121] Chr11:6547636 [GRCh38]
Chr11:6568866 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_144666.3(DNHD1):c.12453G>A (p.Trp4151Ter) single nucleotide variant Spermatogenic failure 65 [RCV002260508] Chr11:6568157 [GRCh38]
Chr11:6589387 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NC_000011.9:g.(?_6411829)_(6662844_?)dup duplication not provided [RCV003111159] Chr11:6411829..6662844 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7390C>G (p.Pro2464Ala) single nucleotide variant Inborn genetic diseases [RCV003253295] Chr11:6556685 [GRCh38]
Chr11:6577915 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13001del (p.Glu4334fs) deletion Spermatogenic failure 65 [RCV003148466] Chr11:6570292 [GRCh38]
Chr11:6591522 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_144666.3(DNHD1):c.12473A>G (p.His4158Arg) single nucleotide variant Spermatogenic failure 65 [RCV002260506] Chr11:6568177 [GRCh38]
Chr11:6589407 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9649C>T (p.Arg3217Ter) single nucleotide variant Spermatogenic failure 65 [RCV002260505] Chr11:6563111 [GRCh38]
Chr11:6584341 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_144666.3(DNHD1):c.12134G>A (p.Arg4045His) single nucleotide variant Inborn genetic diseases [RCV003296050] Chr11:6567643 [GRCh38]
Chr11:6588873 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_144666.3(DNHD1):c.3526G>A (p.Val1176Ile) single nucleotide variant Inborn genetic diseases [RCV003256647] Chr11:6539981 [GRCh38]
Chr11:6561211 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2524C>G (p.Gln842Glu) single nucleotide variant Inborn genetic diseases [RCV003284944] Chr11:6533699 [GRCh38]
Chr11:6554929 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2678C>T (p.Pro893Leu) single nucleotide variant Inborn genetic diseases [RCV003284512] Chr11:6533853 [GRCh38]
Chr11:6555083 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_144666.3(DNHD1):c.9060G>T (p.Gln3020His) single nucleotide variant Inborn genetic diseases [RCV002754856] Chr11:6558542 [GRCh38]
Chr11:6579772 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.4667C>T (p.Ser1556Phe) single nucleotide variant Inborn genetic diseases [RCV002840318] Chr11:6545606 [GRCh38]
Chr11:6566836 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.301C>T (p.His101Tyr) single nucleotide variant Inborn genetic diseases [RCV002817097] Chr11:6498516 [GRCh38]
Chr11:6519746 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2107G>A (p.Val703Met) single nucleotide variant Inborn genetic diseases [RCV002969596] Chr11:6528881 [GRCh38]
Chr11:6550111 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.7056C>G (p.Ser2352Arg) single nucleotide variant DNHD1-related condition [RCV003906578]|Inborn genetic diseases [RCV002683534] Chr11:6548360 [GRCh38]
Chr11:6569590 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_144666.3(DNHD1):c.4561G>T (p.Ala1521Ser) single nucleotide variant Inborn genetic diseases [RCV002906673] Chr11:6545500 [GRCh38]
Chr11:6566730 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.8741A>T (p.His2914Leu) single nucleotide variant Inborn genetic diseases [RCV002969598] Chr11:6558036 [GRCh38]
Chr11:6579266 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5801C>T (p.Ala1934Val) single nucleotide variant Inborn genetic diseases [RCV002906540] Chr11:6546740 [GRCh38]
Chr11:6567970 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.10613G>C (p.Gly3538Ala) single nucleotide variant Inborn genetic diseases [RCV002883995] Chr11:6564661 [GRCh38]
Chr11:6585891 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.4228G>C (p.Glu1410Gln) single nucleotide variant Inborn genetic diseases [RCV002865445] Chr11:6545167 [GRCh38]
Chr11:6566397 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12296C>T (p.Ser4099Leu) single nucleotide variant Inborn genetic diseases [RCV002778290] Chr11:6567805 [GRCh38]
Chr11:6589035 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1478T>C (p.Ile493Thr) single nucleotide variant Inborn genetic diseases [RCV002861205] Chr11:6519685 [GRCh38]
Chr11:6540915 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.3523del (p.His1175fs) deletion not provided [RCV002972470] Chr11:6539978 [GRCh38]
Chr11:6561208 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.794G>A (p.Ser265Asn) single nucleotide variant Inborn genetic diseases [RCV002840319] Chr11:6502800 [GRCh38]
Chr11:6524030 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12604C>T (p.His4202Tyr) single nucleotide variant Inborn genetic diseases [RCV002684866] Chr11:6568519 [GRCh38]
Chr11:6589749 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.4579C>G (p.Leu1527Val) single nucleotide variant Inborn genetic diseases [RCV002907477] Chr11:6545518 [GRCh38]
Chr11:6566748 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7634C>T (p.Ala2545Val) single nucleotide variant Inborn genetic diseases [RCV002777026] Chr11:6556929 [GRCh38]
Chr11:6578159 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5897A>T (p.Asp1966Val) single nucleotide variant Inborn genetic diseases [RCV002969597] Chr11:6546836 [GRCh38]
Chr11:6568066 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10761A>T (p.Lys3587Asn) single nucleotide variant Inborn genetic diseases [RCV002945474] Chr11:6565699 [GRCh38]
Chr11:6586929 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.3457G>T (p.Glu1153Ter) single nucleotide variant Spermatogenic failure 65 [RCV003146666]|not provided [RCV002904420] Chr11:6539912 [GRCh38]
Chr11:6561142 [GRCh37]
Chr11:11p15.4		 pathogenic|uncertain significance
NM_144666.3(DNHD1):c.671C>T (p.Ala224Val) single nucleotide variant Inborn genetic diseases [RCV002683320] Chr11:6498886 [GRCh38]
Chr11:6520116 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.11683C>T (p.Arg3895Cys) single nucleotide variant Inborn genetic diseases [RCV002879710] Chr11:6567192 [GRCh38]
Chr11:6588422 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1388G>A (p.Arg463Gln) single nucleotide variant Inborn genetic diseases [RCV002817316] Chr11:6511425 [GRCh38]
Chr11:6532655 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.4409G>A (p.Arg1470His) single nucleotide variant Inborn genetic diseases [RCV002997225] Chr11:6545348 [GRCh38]
Chr11:6566578 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7133T>C (p.Leu2378Pro) single nucleotide variant Inborn genetic diseases [RCV002883463] Chr11:6548679 [GRCh38]
Chr11:6569909 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6506G>A (p.Arg2169His) single nucleotide variant Inborn genetic diseases [RCV002818553] Chr11:6547445 [GRCh38]
Chr11:6568675 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.9185G>T (p.Gly3062Val) single nucleotide variant Inborn genetic diseases [RCV002734072] Chr11:6558667 [GRCh38]
Chr11:6579897 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2951C>T (p.Thr984Ile) single nucleotide variant Inborn genetic diseases [RCV002772093] Chr11:6534126 [GRCh38]
Chr11:6555356 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2959G>A (p.Asp987Asn) single nucleotide variant Inborn genetic diseases [RCV002733795] Chr11:6534134 [GRCh38]
Chr11:6555364 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1903G>A (p.Asp635Asn) single nucleotide variant Inborn genetic diseases [RCV002969191] Chr11:6528587 [GRCh38]
Chr11:6549817 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.11198T>C (p.Met3733Thr) single nucleotide variant Inborn genetic diseases [RCV002906060] Chr11:6566385 [GRCh38]
Chr11:6587615 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.11450G>A (p.Arg3817Gln) single nucleotide variant Inborn genetic diseases [RCV002974666] Chr11:6566959 [GRCh38]
Chr11:6588189 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.8867G>A (p.Arg2956His) single nucleotide variant Inborn genetic diseases [RCV002733937] Chr11:6558162 [GRCh38]
Chr11:6579392 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.8763G>T (p.Glu2921Asp) single nucleotide variant Inborn genetic diseases [RCV002734294] Chr11:6558058 [GRCh38]
Chr11:6579288 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6665G>T (p.Arg2222Leu) single nucleotide variant Inborn genetic diseases [RCV002729642] Chr11:6547604 [GRCh38]
Chr11:6568834 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.8384C>T (p.Pro2795Leu) single nucleotide variant Inborn genetic diseases [RCV002754313] Chr11:6557679 [GRCh38]
Chr11:6578909 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.8950A>G (p.Arg2984Gly) single nucleotide variant Inborn genetic diseases [RCV002864997] Chr11:6558245 [GRCh38]
Chr11:6579475 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2530G>A (p.Val844Ile) single nucleotide variant Inborn genetic diseases [RCV002946418] Chr11:6533705 [GRCh38]
Chr11:6554935 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7121T>C (p.Val2374Ala) single nucleotide variant Inborn genetic diseases [RCV002733999] Chr11:6548667 [GRCh38]
Chr11:6569897 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6221C>A (p.Thr2074Lys) single nucleotide variant Inborn genetic diseases [RCV002708094] Chr11:6547160 [GRCh38]
Chr11:6568390 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1849G>C (p.Glu617Gln) single nucleotide variant Inborn genetic diseases [RCV002849166] Chr11:6528533 [GRCh38]
Chr11:6549763 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9514G>A (p.Gly3172Ser) single nucleotide variant Inborn genetic diseases [RCV002762532] Chr11:6559278 [GRCh38]
Chr11:6580508 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.6032G>A (p.Arg2011Gln) single nucleotide variant Inborn genetic diseases [RCV002924538] Chr11:6546971 [GRCh38]
Chr11:6568201 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.530T>G (p.Val177Gly) single nucleotide variant Inborn genetic diseases [RCV002785009] Chr11:6498745 [GRCh38]
Chr11:6519975 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.3077G>A (p.Arg1026Gln) single nucleotide variant Inborn genetic diseases [RCV002762069] Chr11:6538461 [GRCh38]
Chr11:6559691 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12582A>C (p.Glu4194Asp) single nucleotide variant Inborn genetic diseases [RCV002978154] Chr11:6568497 [GRCh38]
Chr11:6589727 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13564G>A (p.Ala4522Thr) single nucleotide variant Inborn genetic diseases [RCV002757981] Chr11:6571076 [GRCh38]
Chr11:6592306 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.14252C>T (p.Pro4751Leu) single nucleotide variant Inborn genetic diseases [RCV002981519] Chr11:6571976 [GRCh38]
Chr11:6593206 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5410C>G (p.Leu1804Val) single nucleotide variant Inborn genetic diseases [RCV002708138] Chr11:6546349 [GRCh38]
Chr11:6567579 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2957G>C (p.Ser986Thr) single nucleotide variant Inborn genetic diseases [RCV002703697] Chr11:6534132 [GRCh38]
Chr11:6555362 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.11932C>T (p.Arg3978Ter) single nucleotide variant not provided [RCV002923112] Chr11:6567441 [GRCh38]
Chr11:6588671 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.8861T>A (p.Leu2954His) single nucleotide variant Inborn genetic diseases [RCV002844407] Chr11:6558156 [GRCh38]
Chr11:6579386 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9853G>A (p.Glu3285Lys) single nucleotide variant Inborn genetic diseases [RCV002659797] Chr11:6563693 [GRCh38]
Chr11:6584923 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10241C>T (p.Ala3414Val) single nucleotide variant Inborn genetic diseases [RCV002977960] Chr11:6564081 [GRCh38]
Chr11:6585311 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12820C>T (p.Arg4274Trp) single nucleotide variant Inborn genetic diseases [RCV002844291] Chr11:6568823 [GRCh38]
Chr11:6590053 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6347T>C (p.Ile2116Thr) single nucleotide variant Inborn genetic diseases [RCV002757531] Chr11:6547286 [GRCh38]
Chr11:6568516 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6031C>T (p.Arg2011Trp) single nucleotide variant Inborn genetic diseases [RCV003001371] Chr11:6546970 [GRCh38]
Chr11:6568200 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13206del (p.Ala4403fs) deletion not provided [RCV002948976] Chr11:6570717 [GRCh38]
Chr11:6591947 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.686G>A (p.Arg229Gln) single nucleotide variant Inborn genetic diseases [RCV002703867] Chr11:6498901 [GRCh38]
Chr11:6520131 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.13441_13447del (p.Leu4481fs) deletion not provided [RCV002637677] Chr11:6570953..6570959 [GRCh38]
Chr11:6592183..6592189 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.11370_11371insCTAG (p.Val3791fs) insertion not provided [RCV003079859] Chr11:6566750..6566751 [GRCh38]
Chr11:6587980..6587981 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.6272A>G (p.Asn2091Ser) single nucleotide variant Inborn genetic diseases [RCV002704551] Chr11:6547211 [GRCh38]
Chr11:6568441 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.13492_13493dup (p.Leu4499fs) duplication not provided [RCV002999392] Chr11:6571002..6571003 [GRCh38]
Chr11:6592232..6592233 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.5037G>C (p.Glu1679Asp) single nucleotide variant Inborn genetic diseases [RCV002869735] Chr11:6545976 [GRCh38]
Chr11:6567206 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.3388C>G (p.Pro1130Ala) single nucleotide variant Inborn genetic diseases [RCV002980886] Chr11:6539281 [GRCh38]
Chr11:6560511 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10126G>A (p.Glu3376Lys) single nucleotide variant Inborn genetic diseases [RCV002799710] Chr11:6563966 [GRCh38]
Chr11:6585196 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2923G>A (p.Val975Ile) single nucleotide variant Inborn genetic diseases [RCV002951143] Chr11:6534098 [GRCh38]
Chr11:6555328 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.10999C>G (p.Leu3667Val) single nucleotide variant Inborn genetic diseases [RCV002845703] Chr11:6565937 [GRCh38]
Chr11:6587167 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7973G>A (p.Arg2658Gln) single nucleotide variant Inborn genetic diseases [RCV002739834] Chr11:6557268 [GRCh38]
Chr11:6578498 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6187G>A (p.Gly2063Ser) single nucleotide variant Inborn genetic diseases [RCV002703990] Chr11:6547126 [GRCh38]
Chr11:6568356 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.8638G>A (p.Ala2880Thr) single nucleotide variant Inborn genetic diseases [RCV002868766] Chr11:6557933 [GRCh38]
Chr11:6579163 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12074G>A (p.Gly4025Asp) single nucleotide variant Inborn genetic diseases [RCV002661796] Chr11:6567583 [GRCh38]
Chr11:6588813 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6617G>A (p.Gly2206Glu) single nucleotide variant Inborn genetic diseases [RCV002950949] Chr11:6547556 [GRCh38]
Chr11:6568786 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1109G>A (p.Arg370His) single nucleotide variant Inborn genetic diseases [RCV002661853] Chr11:6509068 [GRCh38]
Chr11:6530298 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.11265A>C (p.Glu3755Asp) single nucleotide variant Inborn genetic diseases [RCV002869266] Chr11:6566645 [GRCh38]
Chr11:6587875 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.1387C>T (p.Arg463Ter) single nucleotide variant not provided [RCV003002827] Chr11:6511424 [GRCh38]
Chr11:6532654 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.2089C>G (p.Gln697Glu) single nucleotide variant Inborn genetic diseases [RCV002693773] Chr11:6528773 [GRCh38]
Chr11:6550003 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9245T>C (p.Ile3082Thr) single nucleotide variant Inborn genetic diseases [RCV002757379] Chr11:6558935 [GRCh38]
Chr11:6580165 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2183G>A (p.Gly728Glu) single nucleotide variant Inborn genetic diseases [RCV002782687] Chr11:6528957 [GRCh38]
Chr11:6550187 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5751T>G (p.Phe1917Leu) single nucleotide variant Inborn genetic diseases [RCV002869084] Chr11:6546690 [GRCh38]
Chr11:6567920 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.373G>C (p.Asp125His) single nucleotide variant Inborn genetic diseases [RCV002926393] Chr11:6498588 [GRCh38]
Chr11:6519818 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7547C>T (p.Pro2516Leu) single nucleotide variant Inborn genetic diseases [RCV002977663] Chr11:6556842 [GRCh38]
Chr11:6578072 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5045G>C (p.Cys1682Ser) single nucleotide variant Inborn genetic diseases [RCV002645528] Chr11:6545984 [GRCh38]
Chr11:6567214 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13485G>T (p.Leu4495Phe) single nucleotide variant Inborn genetic diseases [RCV002930448] Chr11:6570997 [GRCh38]
Chr11:6592227 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7921C>T (p.Arg2641Cys) single nucleotide variant Inborn genetic diseases [RCV002744350] Chr11:6557216 [GRCh38]
Chr11:6578446 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5693A>G (p.Gln1898Arg) single nucleotide variant Inborn genetic diseases [RCV002644982] Chr11:6546632 [GRCh38]
Chr11:6567862 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12142C>T (p.Arg4048Ter) single nucleotide variant not provided [RCV002918973] Chr11:6567651 [GRCh38]
Chr11:6588881 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.6538C>G (p.His2180Asp) single nucleotide variant Inborn genetic diseases [RCV002983695] Chr11:6547477 [GRCh38]
Chr11:6568707 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12864-1G>A single nucleotide variant not provided [RCV003082918] Chr11:6570008 [GRCh38]
Chr11:6591238 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_144666.3(DNHD1):c.1837+2T>C single nucleotide variant not provided [RCV002957389] Chr11:6520291 [GRCh38]
Chr11:6541521 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_144666.3(DNHD1):c.10172C>T (p.Ser3391Phe) single nucleotide variant Inborn genetic diseases [RCV002788701] Chr11:6564012 [GRCh38]
Chr11:6585242 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6970C>A (p.Pro2324Thr) single nucleotide variant Inborn genetic diseases [RCV002891537] Chr11:6548274 [GRCh38]
Chr11:6569504 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10088G>A (p.Arg3363His) single nucleotide variant Inborn genetic diseases [RCV003003625] Chr11:6563928 [GRCh38]
Chr11:6585158 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.283C>A (p.Arg95Ser) single nucleotide variant Inborn genetic diseases [RCV002763229] Chr11:6498498 [GRCh38]
Chr11:6519728 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10078G>T (p.Glu3360Ter) single nucleotide variant not provided [RCV002917762] Chr11:6563918 [GRCh38]
Chr11:6585148 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.3466C>T (p.Arg1156Trp) single nucleotide variant Inborn genetic diseases [RCV002787490] Chr11:6539921 [GRCh38]
Chr11:6561151 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10348T>C (p.Tyr3450His) single nucleotide variant Inborn genetic diseases [RCV002742490] Chr11:6564396 [GRCh38]
Chr11:6585626 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1405A>G (p.Thr469Ala) single nucleotide variant Inborn genetic diseases [RCV002742177] Chr11:6519612 [GRCh38]
Chr11:6540842 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10757-2A>G single nucleotide variant not provided [RCV002917323] Chr11:6565693 [GRCh38]
Chr11:6586923 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_144666.3(DNHD1):c.1292A>G (p.Tyr431Cys) single nucleotide variant Inborn genetic diseases [RCV002788614] Chr11:6511329 [GRCh38]
Chr11:6532559 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13226A>G (p.Gln4409Arg) single nucleotide variant Inborn genetic diseases [RCV002830525] Chr11:6570738 [GRCh38]
Chr11:6591968 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10262G>A (p.Arg3421His) single nucleotide variant Inborn genetic diseases [RCV003003393] Chr11:6564102 [GRCh38]
Chr11:6585332 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.5981C>T (p.Ala1994Val) single nucleotide variant Inborn genetic diseases [RCV002698713] Chr11:6546920 [GRCh38]
Chr11:6568150 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12821G>A (p.Arg4274Gln) single nucleotide variant Inborn genetic diseases [RCV002709461] Chr11:6568824 [GRCh38]
Chr11:6590054 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9065A>C (p.His3022Pro) single nucleotide variant Inborn genetic diseases [RCV002699322] Chr11:6558547 [GRCh38]
Chr11:6579777 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.3517A>G (p.Ile1173Val) single nucleotide variant Inborn genetic diseases [RCV002827661] Chr11:6539972 [GRCh38]
Chr11:6561202 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.3258C>A (p.Tyr1086Ter) single nucleotide variant not provided [RCV002624008] Chr11:6538743 [GRCh38]
Chr11:6559973 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.7537C>T (p.Pro2513Ser) single nucleotide variant Inborn genetic diseases [RCV002696948] Chr11:6556832 [GRCh38]
Chr11:6578062 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.8692C>T (p.His2898Tyr) single nucleotide variant Inborn genetic diseases [RCV002955905] Chr11:6557987 [GRCh38]
Chr11:6579217 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2246G>A (p.Arg749His) single nucleotide variant Inborn genetic diseases [RCV002930019] Chr11:6529020 [GRCh38]
Chr11:6550250 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.4727T>C (p.Val1576Ala) single nucleotide variant Inborn genetic diseases [RCV002827231] Chr11:6545666 [GRCh38]
Chr11:6566896 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1931A>G (p.Asn644Ser) single nucleotide variant Inborn genetic diseases [RCV002916746] Chr11:6528615 [GRCh38]
Chr11:6549845 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6665G>A (p.Arg2222His) single nucleotide variant Inborn genetic diseases [RCV002931710] Chr11:6547604 [GRCh38]
Chr11:6568834 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.8678T>G (p.Leu2893Arg) single nucleotide variant Inborn genetic diseases [RCV002665086] Chr11:6557973 [GRCh38]
Chr11:6579203 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.4898T>C (p.Leu1633Pro) single nucleotide variant Inborn genetic diseases [RCV002957031] Chr11:6545837 [GRCh38]
Chr11:6567067 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5824G>A (p.Val1942Met) single nucleotide variant Inborn genetic diseases [RCV002802760] Chr11:6546763 [GRCh38]
Chr11:6567993 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6179G>A (p.Arg2060His) single nucleotide variant Inborn genetic diseases [RCV002961287] Chr11:6547118 [GRCh38]
Chr11:6568348 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1288T>C (p.Cys430Arg) single nucleotide variant Inborn genetic diseases [RCV002808160] Chr11:6511325 [GRCh38]
Chr11:6532555 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.8689C>T (p.Arg2897Cys) single nucleotide variant Inborn genetic diseases [RCV002813667] Chr11:6557984 [GRCh38]
Chr11:6579214 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13852G>T (p.Val4618Phe) single nucleotide variant Inborn genetic diseases [RCV002941512] Chr11:6571364 [GRCh38]
Chr11:6592594 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.4967C>T (p.Pro1656Leu) single nucleotide variant Inborn genetic diseases [RCV002813199] Chr11:6545906 [GRCh38]
Chr11:6567136 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.14237A>C (p.His4746Pro) single nucleotide variant Inborn genetic diseases [RCV002713839] Chr11:6571961 [GRCh38]
Chr11:6593191 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.11324C>T (p.Thr3775Ile) single nucleotide variant Inborn genetic diseases [RCV002748105] Chr11:6566704 [GRCh38]
Chr11:6587934 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12281C>T (p.Pro4094Leu) single nucleotide variant Inborn genetic diseases [RCV002668361] Chr11:6567790 [GRCh38]
Chr11:6589020 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.6194del (p.Cys2065fs) deletion not provided [RCV003060756] Chr11:6547133 [GRCh38]
Chr11:6568363 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.10830G>C (p.Glu3610Asp) single nucleotide variant Inborn genetic diseases [RCV002714551] Chr11:6565768 [GRCh38]
Chr11:6586998 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.607C>A (p.Gln203Lys) single nucleotide variant Inborn genetic diseases [RCV002807649] Chr11:6498822 [GRCh38]
Chr11:6520052 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9340A>G (p.Thr3114Ala) single nucleotide variant Inborn genetic diseases [RCV002877948] Chr11:6559030 [GRCh38]
Chr11:6580260 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5071G>A (p.Val1691Met) single nucleotide variant Inborn genetic diseases [RCV002897560] Chr11:6546010 [GRCh38]
Chr11:6567240 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1838-1G>A single nucleotide variant not provided [RCV002937840] Chr11:6528521 [GRCh38]
Chr11:6549751 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_144666.3(DNHD1):c.13630G>A (p.Gly4544Ser) single nucleotide variant Inborn genetic diseases [RCV002935757] Chr11:6571142 [GRCh38]
Chr11:6592372 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2260del (p.Gln754fs) deletion not provided [RCV002937127] Chr11:6529034 [GRCh38]
Chr11:6550264 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.3491C>T (p.Ala1164Val) single nucleotide variant Inborn genetic diseases [RCV002920361] Chr11:6539946 [GRCh38]
Chr11:6561176 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.13573G>A (p.Ala4525Thr) single nucleotide variant Inborn genetic diseases [RCV002964827] Chr11:6571085 [GRCh38]
Chr11:6592315 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.11717A>G (p.His3906Arg) single nucleotide variant Inborn genetic diseases [RCV002808391] Chr11:6567226 [GRCh38]
Chr11:6588456 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10580T>A (p.Leu3527Gln) single nucleotide variant Inborn genetic diseases [RCV002674588] Chr11:6564628 [GRCh38]
Chr11:6585858 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1025C>T (p.Thr342Met) single nucleotide variant Inborn genetic diseases [RCV002961072] Chr11:6508984 [GRCh38]
Chr11:6530214 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2849G>C (p.Gly950Ala) single nucleotide variant Inborn genetic diseases [RCV002964438] Chr11:6534024 [GRCh38]
Chr11:6555254 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6215G>A (p.Arg2072Lys) single nucleotide variant Inborn genetic diseases [RCV002668258] Chr11:6547154 [GRCh38]
Chr11:6568384 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.11888C>T (p.Ala3963Val) single nucleotide variant Inborn genetic diseases [RCV002965171] Chr11:6567397 [GRCh38]
Chr11:6588627 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.3470G>A (p.Arg1157Gln) single nucleotide variant Inborn genetic diseases [RCV002668247] Chr11:6539925 [GRCh38]
Chr11:6561155 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.13195G>T (p.Glu4399Ter) single nucleotide variant not provided [RCV002650892] Chr11:6570707 [GRCh38]
Chr11:6591937 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.4654G>T (p.Ala1552Ser) single nucleotide variant Inborn genetic diseases [RCV002673887] Chr11:6545593 [GRCh38]
Chr11:6566823 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5702G>A (p.Arg1901His) single nucleotide variant Inborn genetic diseases [RCV002714183] Chr11:6546641 [GRCh38]
Chr11:6567871 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7366G>T (p.Asp2456Tyr) single nucleotide variant Inborn genetic diseases [RCV002770037] Chr11:6548912 [GRCh38]
Chr11:6570142 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9045del (p.Ile3016fs) deletion not provided [RCV002650860] Chr11:6558527 [GRCh38]
Chr11:6579757 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.13893C>A (p.Ser4631Arg) single nucleotide variant Inborn genetic diseases [RCV002940864] Chr11:6571405 [GRCh38]
Chr11:6592635 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1855del (p.Asp619fs) deletion not provided [RCV002651618] Chr11:6528538 [GRCh38]
Chr11:6549768 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.12489G>A (p.Trp4163Ter) single nucleotide variant not provided [RCV002966989] Chr11:6568193 [GRCh38]
Chr11:6589423 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.2301del (p.Gly768fs) deletion not provided [RCV003090618] Chr11:6529072 [GRCh38]
Chr11:6550302 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.10025G>A (p.Arg3342Gln) single nucleotide variant Inborn genetic diseases [RCV002937028] Chr11:6563865 [GRCh38]
Chr11:6585095 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.104C>T (p.Pro35Leu) single nucleotide variant Inborn genetic diseases [RCV002655824] Chr11:6498319 [GRCh38]
Chr11:6519549 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13556G>A (p.Arg4519His) single nucleotide variant Inborn genetic diseases [RCV002680364] Chr11:6571068 [GRCh38]
Chr11:6592298 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13544C>T (p.Pro4515Leu) single nucleotide variant Inborn genetic diseases [RCV002656451] Chr11:6571056 [GRCh38]
Chr11:6592286 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.11207-9_11207del deletion DNHD1-related condition [RCV003953906]|not provided [RCV002605872] Chr11:6566576..6566585 [GRCh38]
Chr11:6587806..6587815 [GRCh37]
Chr11:11p15.4		 likely pathogenic|likely benign
NM_144666.3(DNHD1):c.8104G>T (p.Glu2702Ter) single nucleotide variant not provided [RCV002633342] Chr11:6557399 [GRCh38]
Chr11:6578629 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.896A>G (p.Asn299Ser) single nucleotide variant Inborn genetic diseases [RCV002656371] Chr11:6502902 [GRCh38]
Chr11:6524132 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9608T>C (p.Ile3203Thr) single nucleotide variant Inborn genetic diseases [RCV002680475] Chr11:6563070 [GRCh38]
Chr11:6584300 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12662-2A>C single nucleotide variant not provided [RCV003092278] Chr11:6568663 [GRCh38]
Chr11:6589893 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_144666.3(DNHD1):c.7874G>A (p.Arg2625Gln) single nucleotide variant Inborn genetic diseases [RCV002677704] Chr11:6557169 [GRCh38]
Chr11:6578399 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.3310C>T (p.Gln1104Ter) single nucleotide variant not provided [RCV002943372] Chr11:6538795 [GRCh38]
Chr11:6560025 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.6581C>A (p.Thr2194Asn) single nucleotide variant Inborn genetic diseases [RCV002678005] Chr11:6547520 [GRCh38]
Chr11:6568750 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12020C>T (p.Ala4007Val) single nucleotide variant Inborn genetic diseases [RCV002657315] Chr11:6567529 [GRCh38]
Chr11:6588759 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13612C>T (p.Arg4538Ter) single nucleotide variant not provided [RCV002611178] Chr11:6571124 [GRCh38]
Chr11:6592354 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_144666.3(DNHD1):c.8119G>A (p.Glu2707Lys) single nucleotide variant DNHD1-related condition [RCV003393065] Chr11:6557414 [GRCh38]
Chr11:6578644 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2695C>T (p.Leu899Phe) single nucleotide variant Inborn genetic diseases [RCV003280503] Chr11:6533870 [GRCh38]
Chr11:6555100 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.1358G>A (p.Arg453His) single nucleotide variant Inborn genetic diseases [RCV003175531] Chr11:6511395 [GRCh38]
Chr11:6532625 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13871A>G (p.Tyr4624Cys) single nucleotide variant Inborn genetic diseases [RCV003217668] Chr11:6571383 [GRCh38]
Chr11:6592613 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.4863G>T (p.Gln1621His) single nucleotide variant Inborn genetic diseases [RCV003203644] Chr11:6545802 [GRCh38]
Chr11:6567032 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2571C>A (p.His857Gln) single nucleotide variant Inborn genetic diseases [RCV003210053] Chr11:6533746 [GRCh38]
Chr11:6554976 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.14000C>T (p.Ala4667Val) single nucleotide variant Inborn genetic diseases [RCV003215799] Chr11:6571724 [GRCh38]
Chr11:6592954 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9534T>G (p.Phe3178Leu) single nucleotide variant Inborn genetic diseases [RCV003186496] Chr11:6562996 [GRCh38]
Chr11:6584226 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.10418T>C (p.Phe3473Ser) single nucleotide variant Inborn genetic diseases [RCV003199954] Chr11:6564466 [GRCh38]
Chr11:6585696 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9973A>G (p.Ser3325Gly) single nucleotide variant Inborn genetic diseases [RCV003189437] Chr11:6563813 [GRCh38]
Chr11:6585043 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.3233G>A (p.Arg1078His) single nucleotide variant Inborn genetic diseases [RCV003189531] Chr11:6538718 [GRCh38]
Chr11:6559948 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9604C>G (p.Leu3202Val) single nucleotide variant Inborn genetic diseases [RCV003220166] Chr11:6563066 [GRCh38]
Chr11:6584296 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10273A>C (p.Thr3425Pro) single nucleotide variant Inborn genetic diseases [RCV003217791] Chr11:6564113 [GRCh38]
Chr11:6585343 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6792C>A (p.Asn2264Lys) single nucleotide variant Inborn genetic diseases [RCV003219660] Chr11:6547927 [GRCh38]
Chr11:6569157 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5662C>T (p.Leu1888=) single nucleotide variant Spermatogenic failure 65 [RCV003146773] Chr11:6546601 [GRCh38]
Chr11:6567831 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9715G>A (p.Asp3239Asn) single nucleotide variant Inborn genetic diseases [RCV003180905] Chr11:6563427 [GRCh38]
Chr11:6584657 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.3479G>A (p.Arg1160Gln) single nucleotide variant Inborn genetic diseases [RCV003206715] Chr11:6539934 [GRCh38]
Chr11:6561164 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.9128G>A (p.Arg3043His) single nucleotide variant Inborn genetic diseases [RCV003281623] Chr11:6558610 [GRCh38]
Chr11:6579840 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.11976G>A (p.Met3992Ile) single nucleotide variant Inborn genetic diseases [RCV003258496] Chr11:6567485 [GRCh38]
Chr11:6588715 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5062C>A (p.Pro1688Thr) single nucleotide variant Inborn genetic diseases [RCV003183695] Chr11:6546001 [GRCh38]
Chr11:6567231 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7547C>G (p.Pro2516Arg) single nucleotide variant Inborn genetic diseases [RCV003218106] Chr11:6556842 [GRCh38]
Chr11:6578072 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13262C>T (p.Ser4421Leu) single nucleotide variant Inborn genetic diseases [RCV003211879] Chr11:6570774 [GRCh38]
Chr11:6592004 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2380C>A (p.Leu794Ile) single nucleotide variant Inborn genetic diseases [RCV003200772] Chr11:6533059 [GRCh38]
Chr11:6554289 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5009C>G (p.Ala1670Gly) single nucleotide variant Inborn genetic diseases [RCV003185131] Chr11:6545948 [GRCh38]
Chr11:6567178 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.10393G>A (p.Glu3465Lys) single nucleotide variant Inborn genetic diseases [RCV003191905] Chr11:6564441 [GRCh38]
Chr11:6585671 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.8599T>G (p.Ser2867Ala) single nucleotide variant Inborn genetic diseases [RCV003207905] Chr11:6557894 [GRCh38]
Chr11:6579124 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13702G>A (p.Val4568Met) single nucleotide variant Inborn genetic diseases [RCV003195283] Chr11:6571214 [GRCh38]
Chr11:6592444 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.8246T>C (p.Leu2749Pro) single nucleotide variant Spermatogenic failure 65 [RCV003146772] Chr11:6557541 [GRCh38]
Chr11:6578771 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9173A>T (p.His3058Leu) single nucleotide variant Inborn genetic diseases [RCV003192273] Chr11:6558655 [GRCh38]
Chr11:6579885 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2411T>G (p.Leu804Arg) single nucleotide variant Inborn genetic diseases [RCV003265385] Chr11:6533090 [GRCh38]
Chr11:6554320 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.12859C>T (p.Arg4287Cys) single nucleotide variant Inborn genetic diseases [RCV003265659] Chr11:6568862 [GRCh38]
Chr11:6590092 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.11747G>A (p.Arg3916His) single nucleotide variant Inborn genetic diseases [RCV003309011] Chr11:6567256 [GRCh38]
Chr11:6588486 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7426C>T (p.Arg2476Cys) single nucleotide variant Inborn genetic diseases [RCV003287520] Chr11:6556721 [GRCh38]
Chr11:6577951 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9239C>T (p.Ala3080Val) single nucleotide variant Inborn genetic diseases [RCV003309755] Chr11:6558929 [GRCh38]
Chr11:6580159 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.14174T>C (p.Ile4725Thr) single nucleotide variant not provided [RCV003397893] Chr11:6571898 [GRCh38]
Chr11:6593128 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.13385G>A (p.Arg4462His) single nucleotide variant Inborn genetic diseases [RCV003340412] Chr11:6570897 [GRCh38]
Chr11:6592127 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6698G>A (p.Arg2233His) single nucleotide variant not provided [RCV003334134] Chr11:6547637 [GRCh38]
Chr11:6568867 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.5269G>A (p.Gly1757Ser) single nucleotide variant Inborn genetic diseases [RCV003359200] Chr11:6546208 [GRCh38]
Chr11:6567438 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.12197G>A (p.Arg4066Gln) single nucleotide variant Inborn genetic diseases [RCV003359182] Chr11:6567706 [GRCh38]
Chr11:6588936 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.7922G>A (p.Arg2641His) single nucleotide variant Inborn genetic diseases [RCV003344375] Chr11:6557217 [GRCh38]
Chr11:6578447 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5351T>C (p.Leu1784Pro) single nucleotide variant Inborn genetic diseases [RCV003346735] Chr11:6546290 [GRCh38]
Chr11:6567520 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.5194G>A (p.Gly1732Ser) single nucleotide variant Inborn genetic diseases [RCV003363248] Chr11:6546133 [GRCh38]
Chr11:6567363 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.3897G>A (p.Met1299Ile) single nucleotide variant Inborn genetic diseases [RCV003377145] Chr11:6544836 [GRCh38]
Chr11:6566066 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.11426G>A (p.Arg3809His) single nucleotide variant Inborn genetic diseases [RCV003353769] Chr11:6566935 [GRCh38]
Chr11:6588165 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.3860G>A (p.Arg1287His) single nucleotide variant Inborn genetic diseases [RCV003347453] Chr11:6544799 [GRCh38]
Chr11:6566029 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2389G>A (p.Val797Met) single nucleotide variant Inborn genetic diseases [RCV003371277] Chr11:6533068 [GRCh38]
Chr11:6554298 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.6505C>T (p.Arg2169Cys) single nucleotide variant Inborn genetic diseases [RCV003364173] Chr11:6547444 [GRCh38]
Chr11:6568674 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.8144C>T (p.Ala2715Val) single nucleotide variant Inborn genetic diseases [RCV003385432] Chr11:6557439 [GRCh38]
Chr11:6578669 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.883T>G (p.Phe295Val) single nucleotide variant Inborn genetic diseases [RCV003363499] Chr11:6502889 [GRCh38]
Chr11:6524119 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2572G>A (p.Glu858Lys) single nucleotide variant Inborn genetic diseases [RCV003347008] Chr11:6533747 [GRCh38]
Chr11:6554977 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.8006C>G (p.Ala2669Gly) single nucleotide variant not provided [RCV003456763] Chr11:6557301 [GRCh38]
Chr11:6578531 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9804A>G (p.Thr3268=) single nucleotide variant DNHD1-related condition [RCV003906730]|not provided [RCV003409250] Chr11:6563516 [GRCh38]
Chr11:6584746 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.13488G>A (p.Val4496=) single nucleotide variant DNHD1-related condition [RCV003966352]|not provided [RCV003409251] Chr11:6571000 [GRCh38]
Chr11:6592230 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.5305G>A (p.Glu1769Lys) single nucleotide variant not provided [RCV003397889] Chr11:6546244 [GRCh38]
Chr11:6567474 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.9466A>G (p.Thr3156Ala) single nucleotide variant not provided [RCV003397892] Chr11:6559230 [GRCh38]
Chr11:6580460 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9772G>A (p.Asp3258Asn) single nucleotide variant not provided [RCV003456764] Chr11:6563484 [GRCh38]
Chr11:6584714 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.9462C>T (p.His3154=) single nucleotide variant not provided [RCV003397891] Chr11:6559226 [GRCh38]
Chr11:6580456 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.5826G>A (p.Val1942=) single nucleotide variant not provided [RCV003397890] Chr11:6546765 [GRCh38]
Chr11:6567995 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_144666.3(DNHD1):c.10284+7A>T single nucleotide variant DNHD1-related condition [RCV003939368] Chr11:6564131 [GRCh38]
Chr11:6585361 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.1969G>T (p.Ala657Ser) single nucleotide variant DNHD1-related condition [RCV003939451] Chr11:6528653 [GRCh38]
Chr11:6549883 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2535G>A (p.Glu845=) single nucleotide variant DNHD1-related condition [RCV003939863] Chr11:6533710 [GRCh38]
Chr11:6554940 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.6814G>A (p.Asp2272Asn) single nucleotide variant not provided [RCV003988631] Chr11:6547949 [GRCh38]
Chr11:6569179 [GRCh37]
Chr11:11p15.4		 not provided
NM_144666.3(DNHD1):c.3450T>C (p.His1150=) single nucleotide variant DNHD1-related condition [RCV003914303] Chr11:6539905 [GRCh38]
Chr11:6561135 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.836A>C (p.Gln279Pro) single nucleotide variant DNHD1-related condition [RCV003973980] Chr11:6502842 [GRCh38]
Chr11:6524072 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.197G>A (p.Arg66Gln) single nucleotide variant DNHD1-related condition [RCV003974399] Chr11:6498412 [GRCh38]
Chr11:6519642 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.1089C>T (p.Phe363=) single nucleotide variant DNHD1-related condition [RCV003982443] Chr11:6509048 [GRCh38]
Chr11:6530278 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.4927C>T (p.Leu1643=) single nucleotide variant DNHD1-related condition [RCV003979081] Chr11:6545866 [GRCh38]
Chr11:6567096 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.8263C>T (p.Pro2755Ser) single nucleotide variant DNHD1-related condition [RCV003979054] Chr11:6557558 [GRCh38]
Chr11:6578788 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.13795G>A (p.Glu4599Lys) single nucleotide variant not provided [RCV003884861] Chr11:6571307 [GRCh38]
Chr11:6592537 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.9501G>A (p.Gln3167=) single nucleotide variant DNHD1-related condition [RCV003979383] Chr11:6559265 [GRCh38]
Chr11:6580495 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.3585A>G (p.Gln1195=) single nucleotide variant DNHD1-related condition [RCV003967339] Chr11:6540040 [GRCh38]
Chr11:6561270 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.6044T>C (p.Met2015Thr) single nucleotide variant DNHD1-related condition [RCV003984701] Chr11:6546983 [GRCh38]
Chr11:6568213 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.9962G>A (p.Arg3321Gln) single nucleotide variant DNHD1-related condition [RCV003917395] Chr11:6563802 [GRCh38]
Chr11:6585032 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.9669+3G>A single nucleotide variant DNHD1-related condition [RCV003946765] Chr11:6563134 [GRCh38]
Chr11:6584364 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.6121T>C (p.Phe2041Leu) single nucleotide variant DNHD1-related condition [RCV003919638] Chr11:6547060 [GRCh38]
Chr11:6568290 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.9937G>A (p.Asp3313Asn) single nucleotide variant DNHD1-related condition [RCV003977246] Chr11:6563777 [GRCh38]
Chr11:6585007 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.8328A>G (p.Ala2776=) single nucleotide variant DNHD1-related condition [RCV003959781] Chr11:6557623 [GRCh38]
Chr11:6578853 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.2936G>A (p.Arg979His) single nucleotide variant DNHD1-related condition [RCV003961492] Chr11:6534111 [GRCh38]
Chr11:6555341 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.8184G>A (p.Glu2728=) single nucleotide variant DNHD1-related condition [RCV003944645] Chr11:6557479 [GRCh38]
Chr11:6578709 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.8859A>C (p.Thr2953=) single nucleotide variant DNHD1-related condition [RCV003964008] Chr11:6558154 [GRCh38]
Chr11:6579384 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.5419C>T (p.Leu1807=) single nucleotide variant DNHD1-related condition [RCV003951652] Chr11:6546358 [GRCh38]
Chr11:6567588 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.11400G>A (p.Thr3800=) single nucleotide variant DNHD1-related condition [RCV003931675] Chr11:6566909 [GRCh38]
Chr11:6588139 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.12885G>A (p.Gln4295=) single nucleotide variant DNHD1-related condition [RCV003936945] Chr11:6570030 [GRCh38]
Chr11:6591260 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.14261G>A (p.Ter4754=) single nucleotide variant DNHD1-related condition [RCV003952047] Chr11:6571985 [GRCh38]
Chr11:6593215 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.1324G>A (p.Glu442Lys) single nucleotide variant not provided [RCV003988632] Chr11:6511361 [GRCh38]
Chr11:6532591 [GRCh37]
Chr11:11p15.4		 not provided
NM_144666.3(DNHD1):c.11489G>A (p.Arg3830His) single nucleotide variant DNHD1-related condition [RCV003979572] Chr11:6566998 [GRCh38]
Chr11:6588228 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.9957G>C (p.Val3319=) single nucleotide variant DNHD1-related condition [RCV003937321] Chr11:6563797 [GRCh38]
Chr11:6585027 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.2215C>A (p.Pro739Thr) single nucleotide variant DNHD1-related condition [RCV003917305] Chr11:6528989 [GRCh38]
Chr11:6550219 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.3087C>T (p.Ser1029=) single nucleotide variant DNHD1-related condition [RCV003922047] Chr11:6538471 [GRCh38]
Chr11:6559701 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.1785+17A>G single nucleotide variant DNHD1-related condition [RCV003931379] Chr11:6520119 [GRCh38]
Chr11:6541349 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.949G>A (p.Asp317Asn) single nucleotide variant DNHD1-related condition [RCV003981234] Chr11:6508908 [GRCh38]
Chr11:6530138 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.570G>T (p.Leu190=) single nucleotide variant DNHD1-related condition [RCV003984776] Chr11:6498785 [GRCh38]
Chr11:6520015 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.2911G>A (p.Glu971Lys) single nucleotide variant DNHD1-related condition [RCV003951401] Chr11:6534086 [GRCh38]
Chr11:6555316 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.2394A>G (p.Gln798=) single nucleotide variant DNHD1-related condition [RCV003951842] Chr11:6533073 [GRCh38]
Chr11:6554303 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.7388-3T>C single nucleotide variant DNHD1-related condition [RCV003922205] Chr11:6556680 [GRCh38]
Chr11:6577910 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.3028T>C (p.Cys1010Arg) single nucleotide variant DNHD1-related condition [RCV003963913] Chr11:6538412 [GRCh38]
Chr11:6559642 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.5737_5738insAT (p.Arg1913fs) insertion DNHD1-related condition [RCV003947252] Chr11:6546676..6546677 [GRCh38]
Chr11:6567906..6567907 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.11053+7G>A single nucleotide variant DNHD1-related condition [RCV003974103] Chr11:6565998 [GRCh38]
Chr11:6587228 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.8829G>C (p.Leu2943=) single nucleotide variant DNHD1-related condition [RCV003976492] Chr11:6558124 [GRCh38]
Chr11:6579354 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.10392C>T (p.Asp3464=) single nucleotide variant DNHD1-related condition [RCV003973990] Chr11:6564440 [GRCh38]
Chr11:6585670 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.12282G>A (p.Pro4094=) single nucleotide variant DNHD1-related condition [RCV003909840] Chr11:6567791 [GRCh38]
Chr11:6589021 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.5688G>C (p.Lys1896Asn) single nucleotide variant DNHD1-related condition [RCV003919557] Chr11:6546627 [GRCh38]
Chr11:6567857 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.1758A>G (p.Leu586=) single nucleotide variant DNHD1-related condition [RCV003919816] Chr11:6520075 [GRCh38]
Chr11:6541305 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.7479G>A (p.Thr2493=) single nucleotide variant DNHD1-related condition [RCV003964390] Chr11:6556774 [GRCh38]
Chr11:6578004 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.6498T>C (p.Tyr2166=) single nucleotide variant DNHD1-related condition [RCV003929662] Chr11:6547437 [GRCh38]
Chr11:6568667 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.8581C>T (p.His2861Tyr) single nucleotide variant DNHD1-related condition [RCV003976568] Chr11:6557876 [GRCh38]
Chr11:6579106 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.6451C>A (p.Gln2151Lys) single nucleotide variant not provided [RCV003884248] Chr11:6547390 [GRCh38]
Chr11:6568620 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_144666.3(DNHD1):c.921-4A>G single nucleotide variant DNHD1-related condition [RCV003972013] Chr11:6508876 [GRCh38]
Chr11:6530106 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.8267T>C (p.Val2756Ala) single nucleotide variant DNHD1-related condition [RCV003914219] Chr11:6557562 [GRCh38]
Chr11:6578792 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.10560G>A (p.Gln3520=) single nucleotide variant DNHD1-related condition [RCV003976391] Chr11:6564608 [GRCh38]
Chr11:6585838 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.9211G>A (p.Gly3071Ser) single nucleotide variant DNHD1-related condition [RCV003947326] Chr11:6558693 [GRCh38]
Chr11:6579923 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.10680C>T (p.Asn3560=) single nucleotide variant DNHD1-related condition [RCV003976943] Chr11:6564728 [GRCh38]
Chr11:6585958 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.2958C>T (p.Ser986=) single nucleotide variant DNHD1-related condition [RCV003941650] Chr11:6534133 [GRCh38]
Chr11:6555363 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.10440T>C (p.Asp3480=) single nucleotide variant DNHD1-related condition [RCV003978911] Chr11:6564488 [GRCh38]
Chr11:6585718 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.11814C>T (p.Gly3938=) single nucleotide variant DNHD1-related condition [RCV003979108] Chr11:6567323 [GRCh38]
Chr11:6588553 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.719T>A (p.Val240Glu) single nucleotide variant DNHD1-related condition [RCV003979822] Chr11:6498934 [GRCh38]
Chr11:6520164 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.1678C>G (p.Gln560Glu) single nucleotide variant DNHD1-related condition [RCV003973989] Chr11:6519995 [GRCh38]
Chr11:6541225 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.8581C>A (p.His2861Asn) single nucleotide variant DNHD1-related condition [RCV003967407] Chr11:6557876 [GRCh38]
Chr11:6579106 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.2646C>T (p.Phe882=) single nucleotide variant DNHD1-related condition [RCV003916853] Chr11:6533821 [GRCh38]
Chr11:6555051 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.3633C>T (p.Tyr1211=) single nucleotide variant DNHD1-related condition [RCV003911501] Chr11:6544125 [GRCh38]
Chr11:6565355 [GRCh37]
Chr11:11p15.4		 likely benign
NM_144666.3(DNHD1):c.5422C>T (p.Arg1808Cys) single nucleotide variant DNHD1-related condition [RCV003976471] Chr11:6546361 [GRCh38]
Chr11:6567591 [GRCh37]
Chr11:11p15.4		 benign
NM_144666.3(DNHD1):c.13299G>C (p.Gln4433His) single nucleotide variant Inborn genetic diseases [RCV003344874] Chr11:6570811 [GRCh38]
Chr11:6592041 [GRCh37]
Chr11:11p15.4		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5738
Count of miRNA genes:1356
Interacting mature miRNAs:1809
Transcripts:ENST00000254579, ENST00000354685, ENST00000472080, ENST00000473019, ENST00000477562, ENST00000496802, ENST00000524401, ENST00000525080, ENST00000525883, ENST00000526027, ENST00000527143, ENST00000527990, ENST00000529821, ENST00000530197, ENST00000531903, ENST00000532027, ENST00000532467, ENST00000533635, ENST00000533649, ENST00000534210
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.

Markers in Region
WI-11771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,570,123 - 6,570,247UniSTSGRCh37
Build 36116,526,699 - 6,526,823RGDNCBI36
Celera116,689,187 - 6,689,311RGD
Cytogenetic Map11p15.4UniSTS
HuRef116,229,275 - 6,229,399UniSTS
GeneMap99-GB4 RH Map1140.51UniSTS
Whitehead-RH Map1143.9UniSTS
NCBI RH Map1124.0UniSTS
RH99124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,593,002 - 6,593,186UniSTSGRCh37
Build 36116,549,578 - 6,549,762RGDNCBI36
Celera116,712,070 - 6,712,254RGD
Cytogenetic Map11p15.4UniSTS
HuRef116,252,159 - 6,252,343UniSTS
GeneMap99-GB4 RH Map1136.42UniSTS
D11S4585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,547,430 - 6,547,674UniSTSGRCh37
Build 36116,504,006 - 6,504,250RGDNCBI36
Celera116,666,480 - 6,666,724RGD
Cytogenetic Map11p15.4UniSTS
HuRef116,206,496 - 6,206,740UniSTS
TNG Radiation Hybrid Map112849.0UniSTS
WI-14280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,570,922 - 6,571,046UniSTSGRCh37
Build 36116,527,498 - 6,527,622RGDNCBI36
Celera116,689,986 - 6,690,110RGD
Cytogenetic Map11p15.4UniSTS
HuRef116,230,074 - 6,230,198UniSTS
GeneMap99-GB4 RH Map1136.32UniSTS
Whitehead-RH Map1143.3UniSTS
NCBI RH Map1124.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 137 42 130 7 319 7 286 29 297 1 452 211 13 276
Low 2288 2853 1568 596 1554 439 4060 2143 3325 366 980 1378 171 1191 2510 4
Below cutoff 11 92 26 19 76 19 9 22 105 52 25 21 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_144666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB231767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB290171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC082757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF509041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG676072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB074960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB099871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000254579   ⟹   ENSP00000254579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,497,280 - 6,572,020 (+)Ensembl
RefSeq Acc Id: ENST00000354685   ⟹   ENSP00000346716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,497,301 - 6,520,860 (+)Ensembl
RefSeq Acc Id: ENST00000472080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,508,213 - 6,520,858 (+)Ensembl
RefSeq Acc Id: ENST00000473019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,497,260 - 6,504,200 (+)Ensembl
RefSeq Acc Id: ENST00000477562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,497,305 - 6,498,689 (+)Ensembl
RefSeq Acc Id: ENST00000524401   ⟹   ENSP00000433105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,558,054 - 6,564,018 (+)Ensembl
RefSeq Acc Id: ENST00000525080   ⟹   ENSP00000462936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,566,607 - 6,567,352 (+)Ensembl
RefSeq Acc Id: ENST00000525883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,564,749 - 6,572,027 (+)Ensembl
RefSeq Acc Id: ENST00000526027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,558,934 - 6,564,019 (+)Ensembl
RefSeq Acc Id: ENST00000527143   ⟹   ENSP00000464173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,568,705 - 6,571,814 (+)Ensembl
RefSeq Acc Id: ENST00000529821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,564,077 - 6,572,022 (+)Ensembl
RefSeq Acc Id: ENST00000530197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,566,105 - 6,572,019 (+)Ensembl
RefSeq Acc Id: ENST00000531903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,558,054 - 6,563,317 (+)Ensembl
RefSeq Acc Id: ENST00000532027   ⟹   ENSP00000435493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,533,924 - 6,549,035 (+)Ensembl
RefSeq Acc Id: ENST00000532467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,567,349 - 6,572,027 (+)Ensembl
RefSeq Acc Id: ENST00000533635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,564,437 - 6,572,027 (+)Ensembl
RefSeq Acc Id: ENST00000533649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,546,043 - 6,549,037 (+)Ensembl
RefSeq Acc Id: ENST00000534210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,528,977 - 6,593,758 (+)Ensembl
RefSeq Acc Id: NM_144666   ⟹   NP_653267
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,497,280 - 6,572,020 (+)NCBI
GRCh37116,517,994 - 6,593,255 (+)NCBI
Build 36116,543,911 - 6,549,825 (+)NCBI Archive
Celera116,637,586 - 6,712,323 (+)RGD
HuRef116,177,598 - 6,252,412 (+)RGD
CHM1_1116,517,654 - 6,592,369 (+)NCBI
T2T-CHM13v2.0116,555,758 - 6,630,491 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173589   ⟹   NP_775860
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,497,280 - 6,520,860 (+)NCBI
GRCh37116,517,994 - 6,593,255 (+)NCBI
Build 36116,475,107 - 6,498,666 (+)NCBI Archive
Celera116,637,586 - 6,712,323 (+)RGD
HuRef116,177,598 - 6,252,412 (+)RGD
CHM1_1116,517,654 - 6,541,194 (+)NCBI
T2T-CHM13v2.0116,555,758 - 6,579,316 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_653267   ⟸   NM_144666
- Peptide Label: isoform 1
- UniProtKB: Q8TEE6 (UniProtKB/Swiss-Prot),   Q8NAA2 (UniProtKB/Swiss-Prot),   Q6UWI9 (UniProtKB/Swiss-Prot),   Q2NKK8 (UniProtKB/Swiss-Prot),   Q9NSZ9 (UniProtKB/Swiss-Prot),   Q96M86 (UniProtKB/Swiss-Prot),   B0I1S4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_775860   ⟸   NM_173589
- Peptide Label: isoform 2
- UniProtKB: Q96M86 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000254579   ⟸   ENST00000254579
RefSeq Acc Id: ENSP00000435493   ⟸   ENST00000532027
RefSeq Acc Id: ENSP00000433105   ⟸   ENST00000524401
RefSeq Acc Id: ENSP00000346716   ⟸   ENST00000354685
RefSeq Acc Id: ENSP00000462936   ⟸   ENST00000525080
RefSeq Acc Id: ENSP00000464173   ⟸   ENST00000527143
Protein Domains
Dynein heavy chain AAA 5 extension   Dynein heavy chain AAA module D4   Dynein heavy chain C-terminal   Dynein heavy chain coiled coil stalk   Dynein heavy chain hydrolytic ATP-binding dynein   Dynein heavy chain linker   Dynein heavy chain region D6 P-loop

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96M86-F1-model_v2 AlphaFold Q96M86 1-1400 view protein structure
AF-Q96M86-F2-model_v2 AlphaFold Q96M86 201-1600 view protein structure
AF-Q96M86-F3-model_v2 AlphaFold Q96M86 401-1800 view protein structure
AF-Q96M86-F4-model_v2 AlphaFold Q96M86 601-2000 view protein structure
AF-Q96M86-F5-model_v2 AlphaFold Q96M86 801-2200 view protein structure
AF-Q96M86-F6-model_v2 AlphaFold Q96M86 1001-2400 view protein structure
AF-Q96M86-F7-model_v2 AlphaFold Q96M86 1201-2600 view protein structure
AF-Q96M86-F8-model_v2 AlphaFold Q96M86 1401-2800 view protein structure
AF-Q96M86-F9-model_v2 AlphaFold Q96M86 1601-3000 view protein structure
AF-Q96M86-F10-model_v2 AlphaFold Q96M86 1801-3200 view protein structure
AF-Q96M86-F11-model_v2 AlphaFold Q96M86 2001-3400 view protein structure
AF-Q96M86-F12-model_v2 AlphaFold Q96M86 2201-3600 view protein structure
AF-Q96M86-F13-model_v2 AlphaFold Q96M86 2401-3800 view protein structure
AF-Q96M86-F14-model_v2 AlphaFold Q96M86 2601-4000 view protein structure
AF-Q96M86-F15-model_v2 AlphaFold Q96M86 2801-4200 view protein structure
AF-Q96M86-F16-model_v2 AlphaFold Q96M86 3001-4400 view protein structure
AF-Q96M86-F17-model_v2 AlphaFold Q96M86 3201-4600 view protein structure
AF-Q96M86-F18-model_v2 AlphaFold Q96M86 3401-4753 view protein structure

Promoters
RGD ID:7219519
Promoter ID:EPDNEW_H15504
Type:initiation region
Name:DNHD1_2
Description:dynein heavy chain domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15505  EPDNEW_H15506  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,495,962 - 6,496,022EPDNEW
RGD ID:7219517
Promoter ID:EPDNEW_H15505
Type:initiation region
Name:DNHD1_1
Description:dynein heavy chain domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15504  EPDNEW_H15506  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,497,280 - 6,497,340EPDNEW
RGD ID:7219521
Promoter ID:EPDNEW_H15506
Type:initiation region
Name:DNHD1_3
Description:dynein heavy chain domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15505  EPDNEW_H15504  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,497,548 - 6,497,608EPDNEW
RGD ID:6788736
Promoter ID:HG_KWN:12218
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC001MEA.2,   UC001MEB.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36116,541,096 - 6,541,596 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26532 AgrOrtholog
COSMIC DNHD1 COSMIC
Ensembl Genes ENSG00000179532 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000254579 ENTREZGENE
  ENST00000254579.11 UniProtKB/Swiss-Prot
  ENST00000354685 ENTREZGENE
  ENST00000354685.7 UniProtKB/Swiss-Prot
  ENST00000524401.2 UniProtKB/TrEMBL
  ENST00000525080.1 UniProtKB/TrEMBL
  ENST00000527143.1 UniProtKB/TrEMBL
  ENST00000532027.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.140.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.58.1120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.920.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.920.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.20.180.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179532 GTEx
HGNC ID HGNC:26532 ENTREZGENE
Human Proteome Map DNHD1 Human Proteome Map
InterPro AAA_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DHC_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_AAA5_ext UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_HC_stalk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_heavy_chain_D4_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_heavy_D6_P-loop UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_heavy_dom-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:144132 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 144132 ENTREZGENE
OMIM 617277 OMIM
PANTHER DYNEIN HEAVY CHAIN DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10676 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AAA_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DHC_N2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_AAA_lid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_heavy UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF12777 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671968 PharmGKB
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B0I1S4 ENTREZGENE, UniProtKB/TrEMBL
  DNHD1_HUMAN UniProtKB/Swiss-Prot
  E9PJT4_HUMAN UniProtKB/TrEMBL
  E9PM64_HUMAN UniProtKB/TrEMBL
  J3KTE2_HUMAN UniProtKB/TrEMBL
  J3QRE5_HUMAN UniProtKB/TrEMBL
  Q2NKK8 ENTREZGENE
  Q6UWI9 ENTREZGENE
  Q8NAA2 ENTREZGENE
  Q8TEE6 ENTREZGENE
  Q96M86 ENTREZGENE
  Q9NSZ9 ENTREZGENE
UniProt Secondary Q2NKK8 UniProtKB/Swiss-Prot
  Q6UWI9 UniProtKB/Swiss-Prot
  Q8NAA2 UniProtKB/Swiss-Prot
  Q8TEE6 UniProtKB/Swiss-Prot
  Q9NSZ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 DNHD1  dynein heavy chain domain 1  C11orf47  chromosome 11 open reading frame 47  Data merged from RGD:1603865 737654 PROVISIONAL
2016-02-25 DNHD1  dynein heavy chain domain 1  DNHD1L  dynein heavy chain domain 1-like  Data merged from RGD:1602953 737654 PROVISIONAL