HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2) - Rat Genome Database

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Gene: HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2) Homo sapiens
Analyze
Symbol: HERC2
Name: HECT and RLD domain containing E3 ubiquitin protein ligase 2
RGD ID: 1317498
HGNC Page HGNC:4868
Description: Enables SUMO binding activity; ubiquitin protein ligase activity; and ubiquitin protein ligase binding activity. Involved in DNA damage response and protein ubiquitination. Located in cytosol; nucleus; and plasma membrane. Implicated in autosomal recessive intellectual developmental disorder 38 and pigmentation disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: D15F37S1; DKFZp547P028; E3 ubiquitin-protein ligase HERC2; hect domain and RCC1-like domain-containing protein 2; hect domain and RLD 2; HECT-type E3 ubiquitin transferase HERC2; jdf2; KIAA0393; MRT38; p528; probable E3 ubiquitin-protein ligase HERC2; SHEP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: AC055876.2   HERC2P1   HERC2P10   HERC2P11   HERC2P2   HERC2P3   HERC2P4   HERC2P5   HERC2P6   HERC2P7   HERC2P8   HERC2P9   LOC100419579   LOC102723534   LOC102723753  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381528,111,040 - 28,322,179 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1528,111,040 - 28,322,179 (-)EnsemblGRCh38hg38GRCh38
GRCh371528,356,186 - 28,567,325 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361526,029,781 - 26,240,890 (-)NCBINCBI36Build 36hg18NCBI36
Build 341526,029,782 - 26,240,845NCBI
Celera156,513,422 - 6,701,708 (-)NCBICelera
Cytogenetic Map15q13.1NCBI
HuRef156,482,549 - 6,693,549 (-)NCBIHuRef
CHM1_11528,305,169 - 28,516,258 (-)NCBICHM1_1
T2T-CHM13v2.01525,853,561 - 26,064,943 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centriole  (IEA)
cytoplasm  (IBA,IDA,IEA)
cytoskeleton  (IEA)
cytosol  (IDA)
membrane  (HDA,IBA)
nucleoplasm  (TAS)
nucleus  (IDA,IEA)
plasma membrane  (IDA)

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

Human Phenotype
Abdominal obesity  (IAGP)
Abnormal female external genitalia morphology  (IAGP)
Abnormal globus pallidus morphology  (IAGP)
Acromicria  (IAGP)
Adrenal insufficiency  (IAGP)
Aggressive behavior  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blue irides  (IAGP)
Breech presentation  (IAGP)
Carious teeth  (IAGP)
Clinodactyly  (IAGP)
Clitoral hypoplasia  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Decreased fetal movement  (IAGP)
Decreased muscle mass  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Delayed ability to walk  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Diminished ability to concentrate  (IAGP)
Dolichocephaly  (IAGP)
Downturned corners of mouth  (IAGP)
Dystonia  (IAGP)
Echolalia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Esotropia  (IAGP)
External genital hypoplasia  (IAGP)
Failure to thrive in infancy  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fetal onset  (IAGP)
Frontal upsweep of hair  (IAGP)
Generalized hypopigmentation  (IAGP)
Generalized hypotonia  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Hip dysplasia  (IAGP)
Hyperactivity  (IAGP)
Hyperinsulinemia  (IAGP)
Hypermetropia  (IAGP)
Hypernasal speech  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypopigmentation of hair  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplastic female external genitalia  (IAGP)
Hypoplastic labia minora  (IAGP)
Hypoventilation  (IAGP)
Impaired pain sensation  (IAGP)
Infantile onset  (IAGP)
Infertility  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Involuntary movements  (IAGP)
Iris hypopigmentation  (IAGP)
Kyphosis  (IAGP)
Low 1-minute APGAR score  (IAGP)
Low 5-minute APGAR score  (IAGP)
Mandibular prognathia  (IAGP)
Micropenis  (IAGP)
Motor delay  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Narrow nasal bridge  (IAGP)
Narrow palate  (IAGP)
Narrow palm  (IAGP)
Neonatal hypotonia  (IAGP)
Neoplasm of the breast  (IAGP)
Obesity  (IAGP)
Oculomotor apraxia  (IAGP)
Oligohydramnios  (IAGP)
Oligomenorrhea  (IAGP)
Orofacial dyskinesia  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Plagiocephaly  (IAGP)
Polyhydramnios  (IAGP)
Polyphagia  (IAGP)
Poor fine motor coordination  (IAGP)
Poor gross motor coordination  (IAGP)
Poor suck  (IAGP)
Precocious puberty  (IAGP)
Primary amenorrhea  (IAGP)
Psychosis  (IAGP)
Radial deviation of finger  (IAGP)
Recurrent hand flapping  (IAGP)
Recurrent respiratory infections  (IAGP)
Rhabdomyolysis  (IAGP)
Sandal gap  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Self-mutilation  (IAGP)
Short foot  (IAGP)
Short palm  (IAGP)
Short stature  (IAGP)
Sleep abnormality  (IAGP)
Sleep apnea  (IAGP)
Small hand  (IAGP)
Small scrotum  (IAGP)
Specific learning disability  (IAGP)
Sporadic  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Temperature instability  (IAGP)
Thin upper lip vermilion  (IAGP)
Tube feeding  (IAGP)
Type II diabetes mellitus  (IAGP)
Unsteady gait  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:9205841   PMID:9949213   PMID:10441737   PMID:10720573   PMID:10737800   PMID:11337467   PMID:11752456   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15203218  
PMID:15231748   PMID:15840729   PMID:16344560   PMID:16751776   PMID:17081983   PMID:17148452   PMID:17353931   PMID:17952075   PMID:18172690   PMID:18252221   PMID:18252222   PMID:18438405  
PMID:18483556   PMID:18528436   PMID:19068216   PMID:19174780   PMID:19208107   PMID:19343720   PMID:19422935   PMID:19472299   PMID:19615732   PMID:19913121   PMID:19946888   PMID:20023648  
PMID:20176734   PMID:20301505   PMID:20304803   PMID:20360068   PMID:20379614   PMID:20457063   PMID:20463881   PMID:20585627   PMID:20616560   PMID:20628086   PMID:20629734   PMID:20631078  
PMID:20886065   PMID:20936779   PMID:21197618   PMID:21493713   PMID:21775519   PMID:21873635   PMID:22124266   PMID:22190034   PMID:22234890   PMID:22261722   PMID:22451720   PMID:22496338  
PMID:22508508   PMID:22561518   PMID:22586326   PMID:22645313   PMID:22814251   PMID:23065719   PMID:23118974   PMID:23178497   PMID:23243086   PMID:23443559   PMID:23502783   PMID:23548203  
PMID:23601698   PMID:23602568   PMID:24711643   PMID:24722987   PMID:24743594   PMID:24778179   PMID:24855649   PMID:25305019   PMID:25326330   PMID:25355518   PMID:25476789   PMID:25480944  
PMID:25544563   PMID:25798074   PMID:26186194   PMID:26286644   PMID:26344197   PMID:26355680   PMID:26436293   PMID:26474068   PMID:26496610   PMID:26638075   PMID:26949039   PMID:26972000  
PMID:27259994   PMID:27542412   PMID:27609421   PMID:27626314   PMID:27759030   PMID:27880917   PMID:28065597   PMID:28081795   PMID:28190767   PMID:28298427   PMID:28456133   PMID:28514442  
PMID:28718761   PMID:28977907   PMID:29117863   PMID:29331416   PMID:29346117   PMID:29426014   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29511261   PMID:29643511   PMID:30021884  
PMID:30257870   PMID:30279242   PMID:30554943   PMID:30902390   PMID:30987826   PMID:31067453   PMID:31091453   PMID:31124564   PMID:31427565   PMID:31527615   PMID:31582797   PMID:31594818  
PMID:31665549   PMID:32400230   PMID:32571899   PMID:32628020   PMID:32686068   PMID:32707033   PMID:32726574   PMID:32877691   PMID:32989298   PMID:33005030   PMID:33060197   PMID:33432007  
PMID:33536335   PMID:33644029   PMID:33853758   PMID:33957083   PMID:33961781   PMID:34042275   PMID:34079125   PMID:34226595   PMID:34244565   PMID:34370298   PMID:34729304   PMID:34795370  
PMID:35118659   PMID:35140242   PMID:35271311   PMID:35337019   PMID:35338135   PMID:35384245   PMID:35411094   PMID:35439318   PMID:35701387   PMID:35748872   PMID:35914814   PMID:36089195  
PMID:36114006   PMID:36129980   PMID:36180527   PMID:36215168   PMID:36241744   PMID:36244648   PMID:36538041   PMID:36700049   PMID:36721234   PMID:37074924   PMID:37480851   PMID:38113892  


Genomics

Comparative Map Data
HERC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381528,111,040 - 28,322,179 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1528,111,040 - 28,322,179 (-)EnsemblGRCh38hg38GRCh38
GRCh371528,356,186 - 28,567,325 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361526,029,781 - 26,240,890 (-)NCBINCBI36Build 36hg18NCBI36
Build 341526,029,782 - 26,240,845NCBI
Celera156,513,422 - 6,701,708 (-)NCBICelera
Cytogenetic Map15q13.1NCBI
HuRef156,482,549 - 6,693,549 (-)NCBIHuRef
CHM1_11528,305,169 - 28,516,258 (-)NCBICHM1_1
T2T-CHM13v2.01525,853,561 - 26,064,943 (-)NCBIT2T-CHM13v2.0
Herc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39755,699,872 - 55,884,373 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl755,699,944 - 55,881,548 (+)EnsemblGRCm39 Ensembl
GRCm38756,050,124 - 56,231,800 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl756,050,196 - 56,231,800 (+)EnsemblGRCm38mm10GRCm38
MGSCv37763,305,525 - 63,487,170 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36755,918,272 - 56,099,815 (+)NCBIMGSCv36mm8
Celera753,391,067 - 53,570,966 (+)NCBICelera
Cytogenetic Map7B5NCBI
cM Map733.42NCBI
Herc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81116,009,681 - 116,243,888 (+)NCBIGRCr8
mRatBN7.21106,904,789 - 107,110,997 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1106,880,084 - 107,108,134 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1112,296,244 - 112,499,217 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01120,768,113 - 120,971,079 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01114,017,071 - 114,220,047 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01114,453,033 - 114,653,787 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1114,453,054 - 114,653,793 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01115,459,325 - 115,658,977 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41107,440,126 - 107,645,117 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11107,518,956 - 107,722,801 (+)NCBI
Celera1101,115,534 - 101,316,349 (+)NCBICelera
Cytogenetic Map1q22NCBI
Herc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555331,304,675 - 1,489,041 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555331,304,675 - 1,489,041 (+)NCBIChiLan1.0ChiLan1.0
LOC100976978
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2166,961,516 - 7,171,075 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11510,603,053 - 10,812,747 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0151,590,558 - 1,800,023 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11525,535,760 - 25,746,444 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1525,536,483 - 25,746,074 (-)Ensemblpanpan1.1panPan2
HERC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1331,723,113 - 31,966,061 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl331,723,500 - 31,966,199 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha334,716,991 - 34,960,078 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0332,370,920 - 32,613,992 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1331,904,221 - 32,147,887 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0332,153,608 - 32,396,909 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0332,265,346 - 32,508,054 (+)NCBIUU_Cfam_GSD_1.0
Herc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640120,571,057 - 120,758,254 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647138,419,129 - 38,606,323 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647138,419,147 - 38,606,312 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HERC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1556,438,148 - 56,649,792 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11556,438,117 - 56,649,805 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21563,528,991 - 63,584,752 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HERC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12653,760,172 - 54,007,356 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2653,792,593 - 54,007,489 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605436,527,151 - 36,805,768 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in HERC2
579 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004667.6(HERC2):c.323-4749G>A single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000005009] Chr15:28285036 [GRCh38]
Chr15:28530182 [GRCh37]
Chr15:15q13.1
pathogenic|association
NM_004667.6(HERC2):c.1598+247A>G single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000005010] Chr15:28268218 [GRCh38]
Chr15:28513364 [GRCh37]
Chr15:15q13.1
pathogenic|association|affects
NM_004667.6(HERC2):c.13272+874T>C single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000005011] Chr15:28120472 [GRCh38]
Chr15:28365618 [GRCh37]
Chr15:15q13.1
pathogenic|association
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000050782] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.11675C>T (p.Pro3892Leu) single nucleotide variant not provided [RCV003321288] Chr15:28142263 [GRCh38]
Chr15:28387409 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser) single nucleotide variant Elevated circulating creatine kinase concentration [RCV000735404]|Inborn genetic diseases [RCV002536541] Chr15:28229535 [GRCh38]
Chr15:28474681 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4144C>T (p.Arg1382Trp) single nucleotide variant Inborn genetic diseases [RCV002527651]|not provided [RCV001696928] Chr15:28234144 [GRCh38]
Chr15:28479290 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_004667.6(HERC2):c.1012T>G (p.Leu338Val) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001333282]|not provided [RCV000519408] Chr15:28272286 [GRCh38]
Chr15:28517432 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12697T>A (p.Ser4233Thr) single nucleotide variant not provided [RCV000521164] Chr15:28130268 [GRCh38]
Chr15:28375414 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6644G>A (p.Gly2215Asp) single nucleotide variant not provided [RCV000522026] Chr15:28213884 [GRCh38]
Chr15:28459030 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1781C>T (p.Pro594Leu) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV000074397] Chr15:28265707 [GRCh38]
Chr15:28510853 [GRCh37]
Chr15:15q13.1
pathogenic
NM_004667.5(HERC2):c.10058-965C>T single nucleotide variant Lung cancer [RCV000099402] Chr15:28170620 [GRCh38]
Chr15:28415766 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.5(HERC2):c.9832-259A>G single nucleotide variant Lung cancer [RCV000099403] Chr15:28174879 [GRCh38]
Chr15:28420025 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.5(HERC2):c.5272+303G>T single nucleotide variant Lung cancer [RCV000099404] Chr15:28228892 [GRCh38]
Chr15:28474038 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28785371)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|Global developmental delay [RCV000050782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|See cases [RCV000050782] Chr15:23319714..28785371 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000050783] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28314256)x1 copy number loss See cases [RCV000050850] Chr15:23411789..28314256 [GRCh38]
Chr15:23656936..28557186 [GRCh37]
Chr15:21208377..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 copy number gain See cases [RCV000050557] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 copy number loss See cases [RCV000050559] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1 copy number loss See cases [RCV000050564] Chr15:28314197..32343758 [GRCh38]
Chr15:28579796..32635959 [GRCh37]
Chr15:26232938..30423251 [NCBI36]
Chr15:15q13.1-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000050742] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 copy number loss See cases [RCV000050733] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:25161216-28190742)x1 copy number loss See cases [RCV000051583] Chr15:25161216..28190742 [GRCh38]
Chr15:25406363..28435888 [GRCh37]
Chr15:22957456..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3 copy number gain See cases [RCV000051112] Chr15:23319714..32607357 [GRCh38]
Chr15:22698522..32899558 [GRCh37]
Chr15:20249886..30686850 [NCBI36]
Chr15:15q11.2-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 copy number loss See cases [RCV000051053] Chr15:23319714..28314256 [GRCh38]
Chr15:23300238..28557186 [GRCh37]
Chr15:20851679..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28681287)x3 copy number gain See cases [RCV000051813] Chr15:23319714..28681287 [GRCh38]
Chr15:23510051..28926433 [GRCh37]
Chr15:21061492..26725474 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23320410-28460005)x3 copy number gain See cases [RCV000051814] Chr15:23320410..28460005 [GRCh38]
Chr15:23565551..28812483 [GRCh37]
Chr15:21116992..26611524 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28446455)x3 copy number gain See cases [RCV000051816] Chr15:23411589..28446455 [GRCh38]
Chr15:23656736..28691601 [GRCh37]
Chr15:21208177..26365196 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28281294)x3 copy number gain See cases [RCV000051818] Chr15:23411789..28281294 [GRCh38]
Chr15:23656936..28526440 [GRCh37]
Chr15:21208377..26200035 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:24780911-29668996)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|See cases [RCV000051820] Chr15:24780911..29668996 [GRCh38]
Chr15:25026058..29961200 [GRCh37]
Chr15:22577151..27748492 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1 copy number loss See cases [RCV000052353] Chr15:23319714..30109283 [GRCh38]
Chr15:22669052..30401486 [GRCh37]
Chr15:20220416..28188778 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x1 copy number loss See cases [RCV000052355] Chr15:23319714..28275308 [GRCh38]
Chr15:22698322..28520454 [GRCh37]
Chr15:20249686..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000052356] Chr15:23319714..28446314 [GRCh38]
Chr15:22698522..28691460 [GRCh37]
Chr15:20249886..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000052357] Chr15:23319714..28275167 [GRCh38]
Chr15:22698522..28520313 [GRCh37]
Chr15:20249886..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28197267)x1 copy number loss See cases [RCV000052358] Chr15:23319714..28197267 [GRCh38]
Chr15:22779922..28442413 [GRCh37]
Chr15:20331286..26116008 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28446314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|See cases [RCV000052400] Chr15:23411789..28446314 [GRCh38]
Chr15:23656936..28691460 [GRCh37]
Chr15:21208377..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23450287-28446314)x1 copy number loss See cases [RCV000052402] Chr15:23450287..28446314 [GRCh38]
Chr15:23695434..28691460 [GRCh37]
Chr15:21246527..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28275308)x1 copy number loss See cases [RCV000052403] Chr15:23462105..28275308 [GRCh38]
Chr15:23707252..28520454 [GRCh37]
Chr15:21258345..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28190742)x1 copy number loss See cases [RCV000052406] Chr15:23462305..28190742 [GRCh38]
Chr15:23707452..28435888 [GRCh37]
Chr15:21258545..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23494211-28281294)x1 copy number loss See cases [RCV000052409] Chr15:23494211..28281294 [GRCh38]
Chr15:23739358..28526440 [GRCh37]
Chr15:21290451..26200035 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28269468)x1 copy number loss See cases [RCV000052410] Chr15:23537429..28269468 [GRCh38]
Chr15:23782576..28514614 [GRCh37]
Chr15:21333669..26188209 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28275167)x1 copy number loss See cases [RCV000052411] Chr15:23537429..28275167 [GRCh38]
Chr15:23782576..28520313 [GRCh37]
Chr15:21333669..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3 copy number gain See cases [RCV000052339] Chr15:20002460..30349193 [GRCh38]
Chr15:20207713..30641396 [GRCh37]
Chr15:18467727..28428688 [NCBI36]
Chr15:15q11.1-13.2
pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 copy number gain See cases [RCV000052340] Chr15:20002460..32121422 [GRCh38]
Chr15:20207713..32413623 [GRCh37]
Chr15:18467727..30200915 [NCBI36]
Chr15:15q11.1-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1 copy number loss See cases [RCV000052345] Chr15:22030646..28694952 [GRCh38]
Chr15:22318597..28940098 [GRCh37]
Chr15:19819961..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23337069-28272443)x1 copy number loss See cases [RCV000052372] Chr15:23337069..28272443 [GRCh38]
Chr15:23582216..28517589 [GRCh37]
Chr15:21133657..26191184 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28197267)x1 copy number loss See cases [RCV000052374] Chr15:23375083..28197267 [GRCh38]
Chr15:23620230..28442413 [GRCh37]
Chr15:21171671..26116008 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 copy number loss See cases [RCV000052348] Chr15:22144677..30349193 [GRCh38]
Chr15:22432628..30641396 [GRCh37]
Chr15:19933992..28428688 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28272443)x1 copy number loss See cases [RCV000052376] Chr15:23375083..28272443 [GRCh38]
Chr15:23620230..28517589 [GRCh37]
Chr15:21171671..26191184 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x3 copy number gain See cases [RCV000052378] Chr15:23398620..28190742 [GRCh38]
Chr15:23643767..28435888 [GRCh37]
Chr15:21195208..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x1 copy number loss See cases [RCV000052379] Chr15:23398620..28190742 [GRCh38]
Chr15:23643767..28435888 [GRCh37]
Chr15:21195208..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28446314)x1 copy number loss See cases [RCV000052380] Chr15:23398620..28446314 [GRCh38]
Chr15:23643767..28691460 [GRCh37]
Chr15:21195208..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28275308)x1 copy number loss See cases [RCV000052381] Chr15:23411589..28275308 [GRCh38]
Chr15:23656736..28520454 [GRCh37]
Chr15:21208177..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x3 copy number gain See cases [RCV000052349] Chr15:23319714..28190742 [GRCh38]
Chr15:22669052..28435888 [GRCh37]
Chr15:20220416..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x1 copy number loss See cases [RCV000052350] Chr15:23319714..28190742 [GRCh38]
Chr15:22669052..28435888 [GRCh37]
Chr15:20220416..26109483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 copy number gain See cases [RCV000052300] Chr15:19879749..28918517 [GRCh38]
Chr15:20085002..29210720 [GRCh37]
Chr15:18345016..26998012 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 copy number gain See cases [RCV000052301] Chr15:19879749..28702163 [GRCh38]
Chr15:20085002..28947309 [GRCh37]
Chr15:18345016..26746350 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 copy number gain See cases [RCV000052308] Chr15:19905469..28163751 [GRCh38]
Chr15:20110722..28408897 [GRCh37]
Chr15:18370736..26082492 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 copy number gain See cases [RCV000053207] Chr15:20046515..28385894 [GRCh38]
Chr15:20251768..28631040 [GRCh37]
Chr15:18511782..26304635 [NCBI36]
Chr15:15q11.1-13.1
pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607498)x4 copy number gain See cases [RCV000053208] Chr15:23319714..32607498 [GRCh38]
Chr15:22698322..32899699 [GRCh37]
Chr15:20249686..30686991 [NCBI36]
Chr15:15q11.2-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|See cases [RCV000053210] Chr15:22358243..28481444 [GRCh38]
Chr15:22698322..28940239 [GRCh37]
Chr15:20249686..26739280 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Renal adysplasia [RCV000053224]|See cases [RCV000053224] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30527306)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|See cases [RCV000053227] Chr15:23319714..30527306 [GRCh38]
Chr15:22698522..30819509 [GRCh37]
Chr15:20249886..28606801 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053229] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|See cases [RCV000053230] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053231] Chr15:22358243..28481444 [GRCh38]
Chr15:22765428..28940239 [GRCh37]
Chr15:20316792..26739280 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 copy number gain See cases [RCV000053232] Chr15:23319714..28275167 [GRCh38]
Chr15:22765628..28520313 [GRCh37]
Chr15:20316992..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 copy number gain See cases [RCV000053233] Chr15:23319714..30073921 [GRCh38]
Chr15:22863854..30366124 [GRCh37]
Chr15:20415295..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446455)x3 copy number gain See cases [RCV000053234] Chr15:23319714..28446455 [GRCh38]
Chr15:23300038..28691601 [GRCh37]
Chr15:20851479..26365196 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|See cases [RCV000053235] Chr15:23319714..28275308 [GRCh38]
Chr15:23300038..28520454 [GRCh37]
Chr15:20851479..26194049 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_004667.5(HERC2):c.9161C>T (p.Ser3054Leu) single nucleotide variant Malignant melanoma [RCV000070710] Chr15:28178889 [GRCh38]
Chr15:28424035 [GRCh37]
Chr15:26097630 [NCBI36]
Chr15:15q13.1
not provided
NM_004667.5(HERC2):c.6513C>T (p.Leu2171=) single nucleotide variant Malignant melanoma [RCV000070711] Chr15:28214118 [GRCh38]
Chr15:28459264 [GRCh37]
Chr15:26132859 [NCBI36]
Chr15:15q13.1
not provided
NM_004667.5(HERC2):c.4295C>T (p.Pro1432Leu) single nucleotide variant Malignant melanoma [RCV000070712] Chr15:28233720 [GRCh38]
Chr15:28478866 [GRCh37]
Chr15:26152461 [NCBI36]
Chr15:15q13.1
not provided
NM_004667.5(HERC2):c.943C>T (p.Gln315Ter) single nucleotide variant Malignant melanoma [RCV000070713] Chr15:28272355 [GRCh38]
Chr15:28517501 [GRCh37]
Chr15:26191096 [NCBI36]
Chr15:15q13.1
not provided
NM_004667.5(HERC2):c.7628C>T (p.Ala2543Val) single nucleotide variant Malignant melanoma [RCV000062843] Chr15:28201544 [GRCh38]
Chr15:28446690 [GRCh37]
Chr15:26120285 [NCBI36]
Chr15:15q13.1
not provided
NM_004667.6(HERC2):c.10840G>A (p.Val3614Met) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV000660624] Chr15:28152737 [GRCh38]
Chr15:28397883 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.5(HERC2):c.72+3391G>T single nucleotide variant Lung cancer [RCV000087801] Chr15:28317971 [GRCh38]
Chr15:28563117 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4095C>T (p.Ser1365=) single nucleotide variant not provided [RCV002292894] Chr15:28234193 [GRCh38]
Chr15:28479339 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.5872C>G (p.His1958Asp) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001331285] Chr15:28218645 [GRCh38]
Chr15:28463791 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6730G>A (p.Val2244Met) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001331286] Chr15:28213798 [GRCh38]
Chr15:28458944 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10021C>T (p.Gln3341Ter) single nucleotide variant not provided [RCV001703354] Chr15:28174431 [GRCh38]
Chr15:28419577 [GRCh37]
Chr15:15q13.1
pathogenic|likely pathogenic
NM_004667.6(HERC2):c.2602A>G (p.Thr868Ala) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001331282] Chr15:28256233 [GRCh38]
Chr15:28501379 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8461C>T (p.Arg2821Cys) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001331290] Chr15:28191235 [GRCh38]
Chr15:28436381 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8614G>C (p.Asp2872His) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001331291] Chr15:28191000 [GRCh38]
Chr15:28436146 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4043C>T (p.Thr1348Ile) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001331283] Chr15:28234245 [GRCh38]
Chr15:28479391 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.293T>C (p.Leu98Pro) single nucleotide variant Inborn genetic diseases [RCV002569103]|not provided [RCV001579538] Chr15:28292917 [GRCh38]
Chr15:28538063 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7069+3G>A single nucleotide variant Prader-Willi syndrome [RCV001331287] Chr15:28210999 [GRCh38]
Chr15:28456145 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3071T>C (p.Val1024Ala) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001333288]|Inborn genetic diseases [RCV002546623] Chr15:28248716 [GRCh38]
Chr15:28493862 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000050781] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x3 copy number gain See cases [RCV000053224] Chr15:23319714..30361733 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:20249886..28441228 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 copy number gain See cases [RCV000053230] Chr15:23319714..30073921 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:20249886..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28694922)x1 copy number loss See cases [RCV000134719] Chr15:23462288..28694922 [GRCh38]
Chr15:23707435..28940068 [GRCh37]
Chr15:21258528..26739109 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q12-13.1(chr15:27743987-28275167)x3 copy number gain See cases [RCV000134166] Chr15:27743987..28275167 [GRCh38]
Chr15:27989133..28520313 [GRCh37]
Chr15:25662728..26193908 [NCBI36]
Chr15:15q12-13.1
likely benign
GRCh38/hg38 15q11.2-13.1(chr15:23439508-28154050)x1 copy number loss See cases [RCV000134437] Chr15:23439508..28154050 [GRCh38]
Chr15:23684655..28399196 [GRCh37]
Chr15:21236096..26072791 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q13.1(chr15:28111211-28154050)x3 copy number gain See cases [RCV000134634] Chr15:28111211..28154050 [GRCh38]
Chr15:28356357..28399196 [GRCh37]
Chr15:26029952..26072791 [NCBI36]
Chr15:15q13.1
benign
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28275170)x1 copy number loss See cases [RCV000134053] Chr15:23462288..28275170 [GRCh38]
Chr15:23707435..28520316 [GRCh37]
Chr15:21258528..26193911 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28314291)x1 copy number loss See cases [RCV000134115] Chr15:23462288..28314291 [GRCh38]
Chr15:23707435..28557186 [GRCh37]
Chr15:21258528..26233032 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275170)x3 copy number gain See cases [RCV000134062] Chr15:23319714..28275170 [GRCh38]
Chr15:22765637..28520316 [GRCh37]
Chr15:20317001..26193911 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28347620)x1 copy number loss See cases [RCV000134074] Chr15:23319714..28347620 [GRCh38]
Chr15:23353638..28592766 [GRCh37]
Chr15:20905079..26266361 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134082] Chr15:22358243..28481444 [GRCh38]
Chr15:22652047..28705151 [GRCh37]
Chr15:20203411..26524679 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x1 copy number loss See cases [RCV000135313] Chr15:23328044..28154050 [GRCh38]
Chr15:22860857..28399196 [GRCh37]
Chr15:20412298..26072791 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28275170)x1 copy number loss See cases [RCV000134776] Chr15:23410917..28275170 [GRCh38]
Chr15:23656064..28520316 [GRCh37]
Chr15:21207505..26193911 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q13.1(chr15:28314232-28840742)x1 copy number loss See cases [RCV000134859] Chr15:28314232..28840742 [GRCh38]
Chr15:28579796..29085888 [GRCh37]
Chr15:26232973..26884929 [NCBI36]
Chr15:15q13.1
likely benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134755] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000134756] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x4 copy number gain See cases [RCV000135743] Chr15:23319714..30361733 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:20249886..28441228 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000135744] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 copy number gain See cases [RCV000135745] Chr15:23319714..30073921 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:20249886..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 copy number loss See cases [RCV000135860] Chr15:23319714..28314256 [GRCh38]
Chr15:22698522..28557186 [GRCh37]
Chr15:20249886..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000135583] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..28940098 [GRCh37]
Chr15:20249886..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x3 copy number gain See cases [RCV000135505] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 copy number gain See cases [RCV000135506] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30073876)x4 copy number gain See cases [RCV000135973] Chr15:23319714..30073876 [GRCh38]
Chr15:22765637..30366079 [GRCh37]
Chr15:20317001..28153371 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 copy number loss See cases [RCV000135953] Chr15:23319714..38089582 [GRCh38]
Chr15:22698522..38381783 [GRCh37]
Chr15:20249886..36169075 [NCBI36]
Chr15:15q11.2-14
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28290061)x1 copy number loss See cases [RCV000135892] Chr15:23462105..28290061 [GRCh38]
Chr15:23707252..28535207 [GRCh37]
Chr15:21258345..26208802 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28694952)x3 copy number gain See cases [RCV000137064] Chr15:23462305..28694952 [GRCh38]
Chr15:23707452..28940098 [GRCh37]
Chr15:21258545..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x3 copy number gain See cases [RCV000137099] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28557186 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28314256)x1 copy number loss See cases [RCV000136950] Chr15:23462305..28314256 [GRCh38]
Chr15:23707452..28557186 [GRCh37]
Chr15:21258545..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x4 copy number gain See cases [RCV000137100] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28559402 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3 copy number gain See cases [RCV000136964] Chr15:20480943..30217181 [GRCh38]
Chr15:20686196..30509384 [GRCh37]
Chr15:18946210..28296676 [NCBI36]
Chr15:15q11.1-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28280314)x1 copy number loss See cases [RCV000136811] Chr15:23319714..28280314 [GRCh38]
Chr15:22784523..28525460 [GRCh37]
Chr15:20335887..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23454554-28280314)x1 copy number loss See cases [RCV000136734] Chr15:23454554..28280314 [GRCh38]
Chr15:23699701..28525460 [GRCh37]
Chr15:21250794..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28280314)x3 copy number gain See cases [RCV000136752] Chr15:23411789..28280314 [GRCh38]
Chr15:23656936..28525460 [GRCh37]
Chr15:21208377..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4 copy number gain See cases [RCV000137578] Chr15:23319714..30361733 [GRCh38]
Chr15:22765628..30653936 [GRCh37]
Chr15:20316992..28441228 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 copy number gain See cases [RCV000137630] Chr15:23319714..30073921 [GRCh38]
Chr15:22765628..30366124 [GRCh37]
Chr15:20316992..28153416 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x3 copy number gain See cases [RCV000137393] Chr15:23422864..28280314 [GRCh38]
Chr15:23668011..28525460 [GRCh37]
Chr15:21219452..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x1 copy number loss See cases [RCV000137394] Chr15:23422864..28280314 [GRCh38]
Chr15:23668011..28525460 [GRCh37]
Chr15:21219452..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23523934-28280314)x1 copy number loss See cases [RCV000137270] Chr15:23523934..28280314 [GRCh38]
Chr15:23769081..28525460 [GRCh37]
Chr15:21320174..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|likely pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000138132] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000138133] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000137945] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|likely benign
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28314256)x1 copy number loss See cases [RCV000137953] Chr15:23422864..28314256 [GRCh38]
Chr15:23668011..28557186 [GRCh37]
Chr15:21219452..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic|conflicting data from submitters
NM_004667.6(HERC2):c.7411T>C (p.Ser2471Pro) single nucleotide variant not specified [RCV000202838] Chr15:28202416 [GRCh38]
Chr15:28447562 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.905C>T (p.Thr302Met) single nucleotide variant not specified [RCV000202862] Chr15:28272900 [GRCh38]
Chr15:28518046 [GRCh37]
Chr15:15q13.1
benign
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28446301)x1 copy number loss See cases [RCV000138857] Chr15:23462288..28446301 [GRCh38]
Chr15:23707435..28691447 [GRCh37]
Chr15:21258528..26365042 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.2389A>G (p.Met797Val) single nucleotide variant not provided [RCV000965953]|not specified [RCV000202943] Chr15:28257189 [GRCh38]
Chr15:28502335 [GRCh37]
Chr15:15q13.1
benign|likely benign
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 copy number gain See cases [RCV000138530] Chr15:23319714..38545325 [GRCh38]
Chr15:22765628..38837526 [GRCh37]
Chr15:20316992..36624818 [NCBI36]
Chr15:15q11.2-14
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3 copy number gain See cases [RCV000138622] Chr15:23319714..32607357 [GRCh38]
Chr15:22765637..32899558 [GRCh37]
Chr15:20317001..30686850 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1 copy number loss See cases [RCV000138308] Chr15:23319714..32384654 [GRCh38]
Chr15:22765628..32676855 [GRCh37]
Chr15:20316992..30464147 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28446301)x1 copy number loss See cases [RCV000139335] Chr15:23410917..28446301 [GRCh38]
Chr15:23656064..28691447 [GRCh37]
Chr15:21207505..26365042 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q13.1(chr15:28314232-28459561)x3 copy number gain See cases [RCV000139068] Chr15:28314232..28459561 [GRCh38]
Chr15:28579796..28704707 [GRCh37]
Chr15:26232973..26378302 [NCBI36]
Chr15:15q13.1
likely benign
GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3 copy number gain See cases [RCV000139101] Chr15:23319714..31175232 [GRCh38]
Chr15:22765637..31467435 [GRCh37]
Chr15:20317001..29254727 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446301)x3 copy number gain See cases [RCV000139162] Chr15:23319714..28446301 [GRCh38]
Chr15:23300254..28691447 [GRCh37]
Chr15:20851695..26365042 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28638603)x4 copy number gain See cases [RCV000139948] Chr15:23328044..28638603 [GRCh38]
Chr15:22652060..28883749 [GRCh37]
Chr15:20203424..26682790 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28289312)x1 copy number loss See cases [RCV000139980] Chr15:23370621..28289312 [GRCh38]
Chr15:23615768..28534458 [GRCh37]
Chr15:21167209..26208053 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300209)x1 copy number loss See cases [RCV000139986] Chr15:23375044..28300209 [GRCh38]
Chr15:23620191..28545355 [GRCh37]
Chr15:21171632..26218950 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.815C>T (p.Thr272Met) single nucleotide variant not provided [RCV001568861]|not specified [RCV000202964] Chr15:28272990 [GRCh38]
Chr15:28518136 [GRCh37]
Chr15:15q13.1
benign|uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000140240] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28940098 [GRCh37]
Chr15:20316992..26739139 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28578576)x1 copy number loss See cases [RCV000140454] Chr15:23328044..28578576 [GRCh38]
Chr15:22770421..28823722 [GRCh37]
Chr15:20321785..26622763 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23999707-28314256)x1 copy number loss See cases [RCV000139647] Chr15:23999707..28314256 [GRCh38]
Chr15:24244854..28557186 [GRCh37]
Chr15:21795947..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3 copy number gain See cases [RCV000139610] Chr15:23319714..32217731 [GRCh38]
Chr15:22765637..32509932 [GRCh37]
Chr15:20317001..30297224 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q12-13.1(chr15:27713721-28154050)x3 copy number gain See cases [RCV000141409] Chr15:27713721..28154050 [GRCh38]
Chr15:27958867..28399196 [GRCh37]
Chr15:25632462..26072791 [NCBI36]
Chr15:15q12-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000141251] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28976193 [GRCh37]
Chr15:20316992..26775234 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000140712] Chr15:23319714..28446314 [GRCh38]
Chr15:22765628..28691460 [GRCh37]
Chr15:20316992..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000140871] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29096442 [GRCh37]
Chr15:20316992..26895483 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300209)x1 copy number loss See cases [RCV000140888] Chr15:23328044..28300209 [GRCh38]
Chr15:23286571..28545355 [GRCh37]
Chr15:20838012..26218950 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 copy number gain See cases [RCV000140619] Chr15:21581401..28332641 [GRCh38]
Chr15:22304596..28577787 [GRCh37]
Chr15:19805960..26251382 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x3 copy number gain See cases [RCV000140622] Chr15:23328044..28154050 [GRCh38]
Chr15:23569415..28399196 [GRCh37]
Chr15:21120856..26072791 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 copy number gain See cases [RCV000140623] Chr15:19840581..32621939 [GRCh38]
Chr15:20045834..32914140 [GRCh37]
Chr15:18305848..30701432 [NCBI36]
Chr15:15q11.1-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28414765)x1 copy number loss See cases [RCV000141946] Chr15:23370621..28414765 [GRCh38]
Chr15:23615768..28659911 [GRCh37]
Chr15:21167209..26333506 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.821C>G (p.Ala274Gly) single nucleotide variant not specified [RCV000203166] Chr15:28272984 [GRCh38]
Chr15:28518130 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28414892)x1 copy number loss See cases [RCV000141728] Chr15:23370622..28414892 [GRCh38]
Chr15:23615769..28660038 [GRCh37]
Chr15:21167210..26333633 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28836775)x1 copy number loss See cases [RCV000141730] Chr15:23328044..28836775 [GRCh38]
Chr15:22770421..29081921 [GRCh37]
Chr15:20321785..26880962 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.2747-3C>A single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV003147405]|not provided [RCV000727185]|not specified [RCV000203211] Chr15:28255999 [GRCh38]
Chr15:28501145 [GRCh37]
Chr15:15q13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315123)x1 copy number loss See cases [RCV000142069] Chr15:23328044..28315123 [GRCh38]
Chr15:22770421..28560269 [GRCh37]
Chr15:20321785..26233864 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315951)x1 copy number loss See cases [RCV000142233] Chr15:23328044..28315951 [GRCh38]
Chr15:23290786..28561097 [GRCh37]
Chr15:20842227..26234692 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28464569)x1 copy number loss See cases [RCV000142103] Chr15:23328044..28464569 [GRCh38]
Chr15:22770421..28709715 [GRCh37]
Chr15:20321785..26378746 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28578576)x1 copy number loss See cases [RCV000142234] Chr15:23370621..28578576 [GRCh38]
Chr15:23615768..28823722 [GRCh37]
Chr15:21167209..26622763 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300358)x1 copy number loss See cases [RCV000142170] Chr15:23375044..28300358 [GRCh38]
Chr15:23620191..28545504 [GRCh37]
Chr15:21171632..26219099 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300358)x1 copy number loss See cases [RCV000142132] Chr15:23328044..28300358 [GRCh38]
Chr15:23286571..28545504 [GRCh37]
Chr15:20838012..26219099 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30077815)x1 copy number loss See cases [RCV000142046] Chr15:23328044..30077815 [GRCh38]
Chr15:23276605..30370018 [GRCh37]
Chr15:20828046..28157310 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28280314)x3 copy number gain See cases [RCV000142854] Chr15:23398620..28280314 [GRCh38]
Chr15:23643767..28525460 [GRCh37]
Chr15:21195208..26199055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 copy number loss See cases [RCV000142766] Chr15:23319714..28314256 [GRCh38]
Chr15:22765628..28559402 [GRCh37]
Chr15:20316992..26232997 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000142713] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29085896 [GRCh37]
Chr15:20316992..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000142795] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4 copy number gain See cases [RCV000142791] Chr15:23319714..30527306 [GRCh38]
Chr15:22765628..30819509 [GRCh37]
Chr15:20316992..28606801 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30094350)x4 copy number gain See cases [RCV000143379] Chr15:23328044..30094350 [GRCh38]
Chr15:22770421..30386553 [GRCh37]
Chr15:20321785..28173845 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28389912)x1 copy number loss See cases [RCV000143443] Chr15:23370622..28389912 [GRCh38]
Chr15:23615769..28635058 [GRCh37]
Chr15:21167210..26308653 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28446314)x1 copy number loss See cases [RCV000143183] Chr15:23422864..28446314 [GRCh38]
Chr15:23668011..28691460 [GRCh37]
Chr15:21219452..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28460005)x1 copy number loss See cases [RCV000143185] Chr15:23422864..28460005 [GRCh38]
Chr15:23668011..28801348 [GRCh37]
Chr15:21219452..26600389 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28683584)x4 copy number gain See cases [RCV000143291] Chr15:23328044..28683584 [GRCh38]
Chr15:22770421..28928730 [GRCh37]
Chr15:20321785..26727771 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30023809)x1 copy number loss See cases [RCV000143226] Chr15:23328044..30023809 [GRCh38]
Chr15:22770422..30316012 [GRCh37]
Chr15:20321786..28103304 [NCBI36]
Chr15:15q11.2-13.2
pathogenic
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 copy number loss See cases [RCV000143205] Chr15:25033869..37204304 [GRCh38]
Chr15:25279016..37496505 [GRCh37]
Chr15:22830109..35283797 [NCBI36]
Chr15:15q11.2-14
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000148084] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28294829)x1 copy number loss See cases [RCV000143702] Chr15:23328044..28294829 [GRCh38]
Chr15:22770421..28539975 [GRCh37]
Chr15:20321785..26213570 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28300209)x1 copy number loss See cases [RCV000143744] Chr15:23370622..28300209 [GRCh38]
Chr15:23615769..28545355 [GRCh37]
Chr15:21167210..26218950 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000148060] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000148061] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 copy number gain See cases [RCV000148062] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23444168-28277347)x3 copy number gain See cases [RCV000143666] Chr15:23444168..28277347 [GRCh38]
Chr15:23689315..28522493 [GRCh37]
Chr15:21240408..26196088 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 copy number loss See cases [RCV000148063] Chr15:23462305..28275167 [GRCh38]
Chr15:23707452..28520313 [GRCh37]
Chr15:21258545..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3 copy number gain See cases [RCV000143653] Chr15:23328044..32151843 [GRCh38]
Chr15:23282829..32444044 [GRCh37]
Chr15:20834270..30231336 [NCBI36]
Chr15:15q11.2-13.3
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28713633)x3 copy number gain See cases [RCV000143479] Chr15:23328044..28713633 [GRCh38]
Chr15:22770421..28958779 [GRCh37]
Chr15:20321785..26757820 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28478308)x1 copy number loss See cases [RCV000143483] Chr15:23328044..28478308 [GRCh38]
Chr15:22770421..28723454 [GRCh37]
Chr15:20321785..26378746 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 copy number loss See cases [RCV000148195] Chr15:23319714..28275167 [GRCh38]
Chr15:23300238..28520313 [GRCh37]
Chr15:20851679..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 copy number loss See cases [RCV000148164] Chr15:23411789..28275167 [GRCh38]
Chr15:23656936..28520313 [GRCh37]
Chr15:21208377..26193908 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 copy number loss See cases [RCV000148194] Chr15:23319714..28446314 [GRCh38]
Chr15:22698522..28691460 [GRCh37]
Chr15:20249886..26365055 [NCBI36]
Chr15:15q11.2-13.1
pathogenic
NC_000015.9:g.(?_23730704)_(28530182_?)del deletion Angelman syndrome [RCV000191153] Chr15:23730704..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.12310G>A (p.Ala4104Thr) single nucleotide variant not provided [RCV001571027] Chr15:28132751 [GRCh38]
Chr15:28377897 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4 copy number gain See cases [RCV000240220] Chr15:20190548..32917857 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
Single allele deletion Angelman syndrome [RCV001250751] Chr15:23579300..28447626 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele deletion Angelman syndrome [RCV001250749] Chr15:22646692..28964445 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.7316C>A (p.Ala2439Asp) single nucleotide variant not provided [RCV000224091] Chr15:28202511 [GRCh38]
Chr15:28447657 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_004667.6(HERC2):c.7729G>A (p.Val2577Ile) single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000603184]|not provided [RCV000224479] Chr15:28198757 [GRCh38]
Chr15:28443903 [GRCh37]
Chr15:15q13.1
uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225455] Chr15:20044342..28924405 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
NM_004667.6(HERC2):c.5132C>T (p.Thr1711Ile) single nucleotide variant not provided [RCV000224581] Chr15:28229335 [GRCh38]
Chr15:28474481 [GRCh37]
Chr15:15q13.1
uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225563] Chr15:25334522..28369712 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225599] Chr15:23624148..28790734 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.7361C>T (p.Ser2454Leu) single nucleotide variant not specified [RCV000239356] Chr15:28202466 [GRCh38]
Chr15:28447612 [GRCh37]
Chr15:15q13.1
pathogenic|uncertain significance
NM_004667.6(HERC2):c.10474T>C (p.Ser3492Pro) single nucleotide variant Inborn genetic diseases [RCV002525247]|not provided [RCV000520105] Chr15:28167767 [GRCh38]
Chr15:28412913 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3 copy number gain See cases [RCV000239962] Chr15:20733395..28406709 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x3 copy number gain See cases [RCV000511328] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
NM_004667.6(HERC2):c.3629T>C (p.Ile1210Thr) single nucleotide variant Inborn genetic diseases [RCV000622275]|not provided [RCV001591395] Chr15:28238721 [GRCh38]
Chr15:28483867 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406709)x1 copy number loss See cases [RCV000240259] Chr15:22815306..28406709 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.4625G>A (p.Arg1542His) single nucleotide variant not provided [RCV000522564] Chr15:28233196 [GRCh38]
Chr15:28478342 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4 copy number gain See cases [RCV000240538] Chr15:20190548..32386089 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:25583931-32418279)x3 copy number gain See cases [RCV000240575] Chr15:25583931..32418279 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_004667.6(HERC2):c.2603C>A (p.Thr868Lys) single nucleotide variant not provided [RCV000520711] Chr15:28256232 [GRCh38]
Chr15:28501378 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406709)x1 copy number loss See cases [RCV000240502] Chr15:22698522..28406709 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28522838) copy number loss Angelman syndrome [RCV002280758] Chr15:23290862..28522838 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele complex Distal tetrasomy 15q [RCV002280777] Chr15:22770421..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_004667.6(HERC2):c.11992T>C (p.Phe3998Leu) single nucleotide variant not provided [RCV003238934] Chr15:28141455 [GRCh38]
Chr15:28386601 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1597G>A (p.Val533Met) single nucleotide variant not provided [RCV000489021] Chr15:28268466 [GRCh38]
Chr15:28513612 [GRCh37]
Chr15:15q13.1
uncertain significance
Single allele deletion Prader-Willi syndrome [RCV000520873] Chr15:23707435..28520316 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.5374A>G (p.Met1792Val) single nucleotide variant Inborn genetic diseases [RCV002525180]|Prader-Willi syndrome [RCV002481712]|not provided [RCV000522982] Chr15:28228308 [GRCh38]
Chr15:28473454 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8312A>T (p.His2771Leu) single nucleotide variant Inborn genetic diseases [RCV000623319]|not provided [RCV003225099] Chr15:28192100 [GRCh38]
Chr15:28437246 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6551A>C (p.Glu2184Ala) single nucleotide variant not provided [RCV000520594] Chr15:28214080 [GRCh38]
Chr15:28459226 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8342G>C (p.Ser2781Thr) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV002289713]|Inborn genetic diseases [RCV002528277]|not provided [RCV000520647] Chr15:28192070 [GRCh38]
Chr15:28437216 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_004667.6(HERC2):c.9490C>T (p.Gln3164Ter) single nucleotide variant not provided [RCV000598893] Chr15:28176711 [GRCh38]
Chr15:28421857 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10931G>A (p.Arg3644Gln) single nucleotide variant not provided [RCV000522299] Chr15:28146314 [GRCh38]
Chr15:28391460 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787) copy number gain Autism [RCV000626505] Chr15:23810397..29213787 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.983G>A (p.Arg328His) single nucleotide variant not specified [RCV000414554] Chr15:28272315 [GRCh38]
Chr15:28517461 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6976del (p.Ile2325_Leu2326insTer) deletion Motor delay [RCV000414953] Chr15:28211095 [GRCh38]
Chr15:28456241 [GRCh37]
Chr15:15q13.1
pathogenic
NM_004667.6(HERC2):c.8399G>A (p.Arg2800His) single nucleotide variant Prader-Willi syndrome [RCV002490924]|not provided [RCV000522432] Chr15:28192013 [GRCh38]
Chr15:28437159 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6488T>C (p.Ile2163Thr) single nucleotide variant not specified [RCV000413947] Chr15:28214143 [GRCh38]
Chr15:28459289 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28644578)x3 copy number gain See cases [RCV000449082] Chr15:22770421..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x3 copy number gain See cases [RCV000449451] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545355)x1 copy number loss See cases [RCV000449342] Chr15:23620191..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28823722)x1 copy number loss See cases [RCV000449387] Chr15:23615768..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.12757G>A (p.Ala4253Thr) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV003333069]|Global developmental delay [RCV000449631]|not provided [RCV002525533] Chr15:28130208 [GRCh38]
Chr15:28375354 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4 copy number gain See cases [RCV000454142] Chr15:20071673..30737344 [GRCh37]
Chr15:15q11.1-13.2
pathogenic
GRCh37/hg19 15q11.2-14(chr15:24179003-37238599)x1 copy number loss See cases [RCV000449139] Chr15:24179003..37238599 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q13.1(chr15:28349513-28437018)x3 copy number gain See cases [RCV000449289] Chr15:28349513..28437018 [GRCh37]
Chr15:15q13.1
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28357230)x1 copy number loss See cases [RCV000449305] Chr15:23620191..28357230 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x1 copy number loss See cases [RCV000449486] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23300138-29338429)x3 copy number gain See cases [RCV000449160] Chr15:23300138..29338429 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28928730)x1 copy number loss See cases [RCV000446327] Chr15:22770421..28928730 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x3 copy number gain See cases [RCV000447681] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28823722)x1 copy number loss See cases [RCV000447304] Chr15:23290862..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545355)x1 copy number loss See cases [RCV000447305] Chr15:22770421..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28561097)x3 copy number gain See cases [RCV000446375] Chr15:23290862..28561097 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28958779)x4 copy number gain See cases [RCV000447111] Chr15:22770421..28958779 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28545355)x1 copy number loss See cases [RCV000446271] Chr15:23615768..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28545355)x1 copy number loss See cases [RCV000447349] Chr15:23286571..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29021034)x1 copy number loss See cases [RCV000447354] Chr15:22770421..29021034 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28828168)x1 copy number loss See cases [RCV000446646] Chr15:22770421..28828168 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x4 copy number gain See cases [RCV000447598] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23487423-28406650)x3 copy number gain See cases [RCV000446525] Chr15:23487423..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x3 copy number gain See cases [RCV000447049] Chr15:23707452..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x3 copy number gain See cases [RCV000446464] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss See cases [RCV000446703] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650) copy number gain See cases [RCV000447173] Chr15:20190548..28406650 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28704050)x1 copy number loss See cases [RCV000447451] Chr15:22770421..28704050 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28527734)x1 copy number loss See cases [RCV000446656] Chr15:23620191..28527734 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561232)x1 copy number loss See cases [RCV000447084] Chr15:23620191..28561232 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-31760986)x1 copy number loss See cases [RCV000445857] Chr15:22770421..31760986 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_004667.6(HERC2):c.11698G>A (p.Glu3900Lys) single nucleotide variant Inborn genetic diseases [RCV002525517]|not provided [RCV000427910] Chr15:28142240 [GRCh38]
Chr15:28387386 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2264T>C (p.Leu755Ser) single nucleotide variant Breast neoplasm [RCV000419806] Chr15:28260829 [GRCh38]
Chr15:28505975 [GRCh37]
Chr15:15q13.1
pathogenic
NM_004667.6(HERC2):c.926C>G (p.Ala309Gly) single nucleotide variant Breast neoplasm [RCV000428747] Chr15:28272372 [GRCh38]
Chr15:28517518 [GRCh37]
Chr15:15q13.1
pathogenic
NM_004667.6(HERC2):c.2263_2277del (p.Leu755_Asp759del) deletion Breast neoplasm [RCV000437067] Chr15:28260816..28260830 [GRCh38]
Chr15:28505962..28505976 [GRCh37]
Chr15:15q13.1
pathogenic
NM_004667.6(HERC2):c.11716C>T (p.Arg3906Cys) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001782906]|not provided [RCV000421606] Chr15:28141831 [GRCh38]
Chr15:28386977 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13612G>A (p.Val4538Met) single nucleotide variant Prader-Willi syndrome [RCV000763955]|not provided [RCV000439219] Chr15:28115539 [GRCh38]
Chr15:28360685 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10274C>T (p.Pro3425Leu) single nucleotide variant not provided [RCV000427406] Chr15:28168546 [GRCh38]
Chr15:28413692 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_004667.6(HERC2):c.4009C>T (p.Leu1337Phe) single nucleotide variant not provided [RCV000427462] Chr15:28234279 [GRCh38]
Chr15:28479425 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.7058C>G (p.Thr2353Ser) single nucleotide variant not provided [RCV000429604]|not specified [RCV000609136] Chr15:28211013 [GRCh38]
Chr15:28456159 [GRCh37]
Chr15:15q13.1
benign|likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x3 copy number gain See cases [RCV000445780] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.2945A>G (p.His982Arg) single nucleotide variant not provided [RCV000433840] Chr15:28254445 [GRCh38]
Chr15:28499591 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.3(chr15:23282829-32446830)x1 copy number loss See cases [RCV000445807] Chr15:23282829..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3 copy number gain See cases [RCV000445711] Chr15:20733395..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073669)x4 copy number gain See cases [RCV000448114] Chr15:22770421..31073669 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534458)x1 copy number loss See cases [RCV000448156] Chr15:22770421..28534458 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406650)x1 copy number loss See cases [RCV000448168] Chr15:22815306..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x3 copy number gain See cases [RCV000448177] Chr15:23288374..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770421-33707835)x3 copy number gain See cases [RCV000447775] Chr15:22770421..33707835 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28709715)x1 copy number loss See cases [RCV000448196] Chr15:22770421..28709715 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28534245)x3 copy number gain See cases [RCV000448566] Chr15:23290862..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x1 copy number loss See cases [RCV000447934] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x4 copy number gain See cases [RCV000448060] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601)x1 copy number loss See cases [RCV000448654] Chr15:23620191..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4 copy number gain See cases [RCV000448210] Chr15:20190548..32917801 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545459)x1 copy number loss See cases [RCV000448755] Chr15:23290786..28545459 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406650)x1 copy number loss See cases [RCV000448076] Chr15:22698522..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28419123)x1 copy number loss See cases [RCV000448602] Chr15:22770421..28419123 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28437018)x1 copy number loss See cases [RCV000448456] Chr15:23620191..28437018 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x1 copy number loss See cases [RCV000448093] Chr15:23707452..28406650 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain See cases [RCV000448096] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000448389] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_004667.6(HERC2):c.12801T>A (p.Asp4267Glu) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV000490894]|Inborn genetic diseases [RCV000623625]|not specified [RCV000454954] Chr15:28130164 [GRCh38]
Chr15:28375310 [GRCh37]
Chr15:15q13.1
pathogenic|benign
NM_004667.6(HERC2):c.7594G>A (p.Val2532Met) single nucleotide variant not provided [RCV001643152]|not specified [RCV000455324] Chr15:28202136 [GRCh38]
Chr15:28447282 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.10161G>C (p.Leu3387Phe) single nucleotide variant not provided [RCV000486637] Chr15:28169552 [GRCh38]
Chr15:28414698 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.836del (p.Gly279fs) deletion not specified [RCV000456028] Chr15:28272969 [GRCh38]
Chr15:28518115 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.757G>A (p.Val253Met) single nucleotide variant not provided [RCV000483108] Chr15:28274334 [GRCh38]
Chr15:28519480 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28540415)x1 copy number loss See cases [RCV000510622] Chr15:23615768..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28526410)x3 copy number gain See cases [RCV000510367] Chr15:22770421..28526410 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31122895)x4 copy number gain See cases [RCV000510386] Chr15:22770421..31122895 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q12-13.1(chr15:28036720-29244373)x3 copy number gain See cases [RCV000510634] Chr15:28036720..29244373 [GRCh37]
Chr15:15q12-13.1
uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000510251] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28415107)x1 copy number loss See cases [RCV000510397] Chr15:22770421..28415107 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23625784-28540345)x1 copy number loss See cases [RCV000510211] Chr15:23625784..28540345 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29214721)x3 copy number gain See cases [RCV000510224] Chr15:22770421..29214721 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561671)x1 copy number loss See cases [RCV000510689] Chr15:23615769..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NC_000015.9:g.28447255A>C single nucleotide variant Diabetes mellitus AND insipidus with optic atrophy AND deafness [RCV000509517] Chr15:28447255 [GRCh37]
Chr15:15q13.1
pathogenic|not provided
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561097)x3 copy number gain See cases [RCV000510296] Chr15:23615769..28561097 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1 copy number loss See cases [RCV000510693] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_004667.6(HERC2):c.1123A>G (p.Arg375Gly) single nucleotide variant not provided [RCV000493708] Chr15:28270829 [GRCh38]
Chr15:28515975 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_004667.6(HERC2):c.7195G>T (p.Asp2399Tyr) single nucleotide variant not specified [RCV000493983] Chr15:28206257 [GRCh38]
Chr15:28451403 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x1 copy number loss See cases [RCV000511670] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545601)x1 copy number loss See cases [RCV000511767] Chr15:23290786..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28534245)x3 copy number gain See cases [RCV000511592] Chr15:23615768..28534245 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534359)x1 copy number loss See cases [RCV000511600] Chr15:23620191..28534359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28953483)x3 copy number gain See cases [RCV000511850] Chr15:23615769..28953483 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28539975)x1 copy number loss See cases [RCV000510883] Chr15:23620191..28539975 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x1 copy number loss See cases [RCV000511196] Chr15:23620191..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561671)x1 copy number loss See cases [RCV000510894] Chr15:23620191..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28958779)x3 copy number gain See cases [RCV000510929] Chr15:23620191..28958779 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534245)x3 copy number gain See cases [RCV000510737] Chr15:23620191..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30369944)x4 copy number gain See cases [RCV000510901] Chr15:22770421..30369944 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561671)x1 copy number loss See cases [RCV000511178] Chr15:22770421..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28958779)x3 copy number gain See cases [RCV000511275] Chr15:23290862..28958779 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
NM_004667.6(HERC2):c.3347G>A (p.Arg1116Gln) single nucleotide variant Inborn genetic diseases [RCV003273773] Chr15:28246786 [GRCh38]
Chr15:28491932 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8582T>C (p.Ile2861Thr) single nucleotide variant Inborn genetic diseases [RCV003258071] Chr15:28191032 [GRCh38]
Chr15:28436178 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.547C>T (p.Arg183Trp) single nucleotide variant Inborn genetic diseases [RCV003281135] Chr15:28275001 [GRCh38]
Chr15:28520147 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4277T>C (p.Met1426Thr) single nucleotide variant Inborn genetic diseases [RCV003281610] Chr15:28233738 [GRCh38]
Chr15:28478884 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.10747-4C>T single nucleotide variant Inborn genetic diseases [RCV002528643]|not specified [RCV000600135] Chr15:28152834 [GRCh38]
Chr15:28397980 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.6335C>T (p.Ser2112Phe) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV000626285] Chr15:28214678 [GRCh38]
Chr15:28459824 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.14092G>A (p.Ala4698Thr) single nucleotide variant Inborn genetic diseases [RCV003291068] Chr15:28113211 [GRCh38]
Chr15:28358357 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.14096C>T (p.Ser4699Leu) single nucleotide variant Inborn genetic diseases [RCV003273321]|not provided [RCV003443193] Chr15:28113207 [GRCh38]
Chr15:28358353 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7669T>A (p.Phe2557Ile) single nucleotide variant Inborn genetic diseases [RCV003276086] Chr15:28201503 [GRCh38]
Chr15:28446649 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13387C>T (p.His4463Tyr) single nucleotide variant Inborn genetic diseases [RCV003272403] Chr15:28117040 [GRCh38]
Chr15:28362186 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5797G>A (p.Ala1933Thr) single nucleotide variant Inborn genetic diseases [RCV003287910] Chr15:28220500 [GRCh38]
Chr15:28465646 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5440A>G (p.Thr1814Ala) single nucleotide variant not provided [RCV000513909] Chr15:28228242 [GRCh38]
Chr15:28473388 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.5429T>C (p.Met1810Thr) single nucleotide variant not provided [RCV000514091] Chr15:28228253 [GRCh38]
Chr15:28473399 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.1083C>T (p.His361=) single nucleotide variant not provided [RCV000514125] Chr15:28272215 [GRCh38]
Chr15:28517361 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.11672C>T (p.Thr3891Ile) single nucleotide variant not provided [RCV000524091] Chr15:28142266 [GRCh38]
Chr15:28387412 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13046G>A (p.Arg4349His) single nucleotide variant Inborn genetic diseases [RCV000624694] Chr15:28124179 [GRCh38]
Chr15:28369325 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10969G>A (p.Val3657Ile) single nucleotide variant Inborn genetic diseases [RCV000623958]|not provided [RCV000514990] Chr15:28146276 [GRCh38]
Chr15:28391422 [GRCh37]
Chr15:15q13.1
benign|likely benign|uncertain significance
NM_004667.6(HERC2):c.1411C>T (p.Arg471Cys) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001333285]|Inborn genetic diseases [RCV000623078] Chr15:28269283 [GRCh38]
Chr15:28514429 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561670)x4 copy number gain See cases [RCV000512182] Chr15:22770421..28561670 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28709715)x1 copy number loss See cases [RCV000512355] Chr15:23620191..28709715 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.9710T>A (p.Leu3237Ter) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV000626149] Chr15:28175633 [GRCh38]
Chr15:28420779 [GRCh37]
Chr15:15q13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28540415)x1 copy number loss See cases [RCV000512547] Chr15:23286571..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29009042)x3 copy number gain See cases [RCV000512432] Chr15:22770421..29009042 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.5402A>G (p.Asn1801Ser) single nucleotide variant Inborn genetic diseases [RCV000622758] Chr15:28228280 [GRCh38]
Chr15:28473426 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4651A>C (p.Ile1551Leu) single nucleotide variant Inborn genetic diseases [RCV000623159]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000610058]|not provided [RCV001532250] Chr15:28233170 [GRCh38]
Chr15:28478316 [GRCh37]
Chr15:15q13.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q13.1-13.3(chr15:28547475-32446830)x1 copy number loss See cases [RCV000512490] Chr15:28547475..32446830 [GRCh37]
Chr15:15q13.1-13.3
pathogenic
NM_004667.6(HERC2):c.2549C>T (p.Pro850Leu) single nucleotide variant Inborn genetic diseases [RCV000624393]|not provided [RCV003441973] Chr15:28256286 [GRCh38]
Chr15:28501432 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3421A>G (p.Ile1141Val) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV000681663] Chr15:28246037 [GRCh38]
Chr15:28491183 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28376934)x4 copy number gain not provided [RCV000683630] Chr15:22770421..28376934 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4 copy number gain not provided [RCV000683632] Chr15:22770421..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x3 copy number gain not provided [RCV000683645] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3 copy number gain not provided [RCV000683637] Chr15:22770421..32421780 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4 copy number gain not provided [RCV000683638] Chr15:22770421..32439524 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28823722)x1 copy number loss not provided [RCV000683641] Chr15:23286571..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28560269)x1 copy number loss not provided [RCV000683644] Chr15:23290786..28560269 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x1 copy number loss not provided [RCV000683646] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)x1 copy number loss not provided [RCV000683650] Chr15:23637603..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1 copy number loss not provided [RCV000683640] Chr15:22876919..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4 copy number gain not provided [RCV000683636] Chr15:22770421..31073668 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss not provided [RCV000683633] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1 copy number loss not provided [RCV000683634] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28534458)x3 copy number gain not provided [RCV000683648] Chr15:23632677..28534458 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q13.1-13.2(chr15:28376935-31108698)x3 copy number gain not provided [RCV000683657] Chr15:28376935..31108698 [GRCh37]
Chr15:15q13.1-13.2
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1 copy number loss not provided [RCV000683643] Chr15:23288374..29062203 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x3 copy number gain not provided [RCV000683647] Chr15:23620191..28540415 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain not provided [RCV000683631] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1 copy number loss not provided [RCV000683635] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4 copy number gain not provided [RCV000683639] Chr15:22770421..33098520 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28705281)x1 copy number loss not provided [RCV000683642] Chr15:23288374..28705281 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28723454)x3 copy number gain not provided [RCV000683649] Chr15:23632677..28723454 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.7617+4A>C single nucleotide variant Wolfram syndrome 1 [RCV000509517] Chr15:28202109 [GRCh38]
Chr15:28447255 [GRCh37]
Chr15:15q13.1
not provided
NM_004667.6(HERC2):c.1161T>C (p.Ile387=) single nucleotide variant not provided [RCV001532251] Chr15:28270791 [GRCh38]
Chr15:28515937 [GRCh37]
Chr15:15q13.1
likely benign
Single allele duplication Schizophrenia [RCV000754156] Chr15:23319712..28684313 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22652330-29050198)x1 copy number loss not provided [RCV000738652] Chr15:22652330..29050198 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28532120)x1 copy number loss not provided [RCV000738660] Chr15:23672782..28532120 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28544359)x1 copy number loss not provided [RCV000738661] Chr15:23672782..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23693406-29085893)x3 copy number gain not provided [RCV000738662] Chr15:23693406..29085893 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q12-13.1(chr15:27496959-28924405)x3 copy number gain not provided [RCV000738695] Chr15:27496959..28924405 [GRCh37]
Chr15:15q12-13.1
benign
GRCh37/hg19 15q12-13.1(chr15:27963180-28705017)x3 copy number gain not provided [RCV000738696] Chr15:27963180..28705017 [GRCh37]
Chr15:15q12-13.1
benign
GRCh37/hg19 15q13.1(chr15:28239710-28535266)x3 copy number gain not provided [RCV000738697] Chr15:28239710..28535266 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q13.1(chr15:28425679-28445053)x3 copy number gain not provided [RCV000738700] Chr15:28425679..28445053 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q13.1(chr15:28427970-28445053)x3 copy number gain not provided [RCV000738701] Chr15:28427970..28445053 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q13.1(chr15:28427986-28445053)x3 copy number gain not provided [RCV000738702] Chr15:28427986..28445053 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q13.1(chr15:28428372-28445053)x3 copy number gain not provided [RCV000738703] Chr15:28428372..28445053 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q13.1(chr15:28552856-28910914)x3 copy number gain not provided [RCV000738704] Chr15:28552856..28910914 [GRCh37]
Chr15:15q13.1
benign
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3
pathogenic
Single allele duplication Autism [RCV000754157] Chr15:23319712..28800324 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4 copy number gain not provided [RCV000754760] Chr15:20102541..28535051 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
Single allele duplication Schizophrenia [RCV000754155] Chr15:23157975..28774125 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22750305-28535266)x1 copy number loss not provided [RCV000751176] Chr15:22750305..28535266 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22835967-30371774)x4 copy number gain not provided [RCV000751178] Chr15:22835967..30371774 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23109890-29085893)x3 copy number gain not provided [RCV000751181] Chr15:23109890..29085893 [GRCh37]
Chr15:15q11.2-13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28506450)x3 copy number gain not provided [RCV000751185] Chr15:23656946..28506450 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28535266)x3 copy number gain not provided [RCV000751186] Chr15:23656946..28535266 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x3 copy number gain not provided [RCV000751187] Chr15:23656946..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x1 copy number loss not provided [RCV000751188] Chr15:23656946..28544359 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_004667.6(HERC2):c.5442G>T (p.Thr1814=) single nucleotide variant not provided [RCV000895761] Chr15:28228240 [GRCh38]
Chr15:28473386 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.8826-10G>T single nucleotide variant not provided [RCV000896404] Chr15:28182522 [GRCh38]
Chr15:28427668 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.13913+14C>T single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001703319] Chr15:28114598 [GRCh38]
Chr15:28359744 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.4183A>G (p.Ile1395Val) single nucleotide variant not provided [RCV001564533] Chr15:28234105 [GRCh38]
Chr15:28479251 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11381G>A (p.Arg3794Lys) single nucleotide variant not provided [RCV001546470] Chr15:28143910 [GRCh38]
Chr15:28389056 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8318G>T (p.Ser2773Ile) single nucleotide variant not provided [RCV000761903] Chr15:28192094 [GRCh38]
Chr15:28437240 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9961A>G (p.Ser3321Gly) single nucleotide variant not provided [RCV003239184] Chr15:28174491 [GRCh38]
Chr15:28419637 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2455T>C (p.Trp819Arg) single nucleotide variant not provided [RCV003314835] Chr15:28257123 [GRCh38]
Chr15:28502269 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8508C>T (p.Ile2836=) single nucleotide variant not provided [RCV003312299] Chr15:28191188 [GRCh38]
Chr15:28436334 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.7398G>A (p.Met2466Ile) single nucleotide variant Inborn genetic diseases [RCV003268036] Chr15:28202429 [GRCh38]
Chr15:28447575 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9283G>T (p.Ala3095Ser) single nucleotide variant not provided [RCV001546314]|not specified [RCV002246423] Chr15:28177099 [GRCh38]
Chr15:28422245 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7680T>C (p.Asn2560=) single nucleotide variant not provided [RCV001665699] Chr15:28201492 [GRCh38]
Chr15:28446638 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.5838T>C (p.Asp1946=) single nucleotide variant not provided [RCV000951129] Chr15:28220459 [GRCh38]
Chr15:28465605 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.2812T>C (p.Leu938=) single nucleotide variant not provided [RCV000951130] Chr15:28255931 [GRCh38]
Chr15:28501077 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9709T>C (p.Leu3237=) single nucleotide variant not provided [RCV000883789] Chr15:28175634 [GRCh38]
Chr15:28420780 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.9111G>A (p.Arg3037=) single nucleotide variant not provided [RCV000883790] Chr15:28178939 [GRCh38]
Chr15:28424085 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.3798G>A (p.Gln1266=) single nucleotide variant not provided [RCV000883791] Chr15:28238168 [GRCh38]
Chr15:28483314 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.2253A>G (p.Glu751=) single nucleotide variant not provided [RCV000967346] Chr15:28260840 [GRCh38]
Chr15:28505986 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.6558C>T (p.Ala2186=) single nucleotide variant not provided [RCV000907079] Chr15:28213970 [GRCh38]
Chr15:28459116 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.8329A>G (p.Met2777Val) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001331289]|not provided [RCV000964341] Chr15:28192083 [GRCh38]
Chr15:28437229 [GRCh37]
Chr15:15q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004667.6(HERC2):c.14118G>A (p.Glu4706=) single nucleotide variant not provided [RCV000971190] Chr15:28113185 [GRCh38]
Chr15:28358331 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_004667.6(HERC2):c.8043C>T (p.Val2681=) single nucleotide variant not provided [RCV000905699] Chr15:28196538 [GRCh38]
Chr15:28441684 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.12867C>T (p.Ile4289=) single nucleotide variant not provided [RCV000892414] Chr15:28125129 [GRCh38]
Chr15:28370275 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.10900+10C>T single nucleotide variant not provided [RCV000880165] Chr15:28152667 [GRCh38]
Chr15:28397813 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.4318T>C (p.Leu1440=) single nucleotide variant not provided [RCV000880166] Chr15:28233697 [GRCh38]
Chr15:28478843 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.12272T>C (p.Ile4091Thr) single nucleotide variant not provided [RCV000903968] Chr15:28132789 [GRCh38]
Chr15:28377935 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.11895C>T (p.Leu3965=) single nucleotide variant not provided [RCV000899890] Chr15:28141552 [GRCh38]
Chr15:28386698 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3888G>T (p.Gly1296=) single nucleotide variant not provided [RCV000880295] Chr15:28237078 [GRCh38]
Chr15:28482224 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.1704C>T (p.Ala568=) single nucleotide variant not provided [RCV000880299] Chr15:28265869 [GRCh38]
Chr15:28511015 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.13048C>T (p.Leu4350=) single nucleotide variant not provided [RCV000948947] Chr15:28124177 [GRCh38]
Chr15:28369323 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.4810-10C>T single nucleotide variant not provided [RCV000902993] Chr15:28229857 [GRCh38]
Chr15:28475003 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.13566G>A (p.Pro4522=) single nucleotide variant not provided [RCV000903004] Chr15:28116708 [GRCh38]
Chr15:28361854 [GRCh37]
Chr15:15q13.1
likely benign|conflicting interpretations of pathogenicity
NM_004667.6(HERC2):c.14136C>T (p.Ser4712=) single nucleotide variant not provided [RCV000880501] Chr15:28113167 [GRCh38]
Chr15:28358313 [GRCh37]
Chr15:15q13.1
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number loss Angelman syndrome [RCV000767840] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265) copy number gain 15q11q13 microduplication syndrome [RCV000767717] Chr15:20190548..30300265 [GRCh37]
Chr15:15q11.1-13.2
pathogenic
NM_004667.6(HERC2):c.13011C>A (p.His4337Gln) single nucleotide variant not provided [RCV001036476] Chr15:28124214 [GRCh38]
Chr15:28369360 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13879C>T (p.Arg4627Cys) single nucleotide variant not provided [RCV001036477] Chr15:28114646 [GRCh38]
Chr15:28359792 [GRCh37]
Chr15:15q13.1
uncertain significance
Single allele duplication 15q11q13 microduplication syndrome [RCV000825026] Chr15:23810928..28544664 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) copy number loss Angelman syndrome [RCV000767719] Chr15:20848750..32925141 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) copy number loss Angelman syndrome [RCV000767721] Chr15:22770994..29050198 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505) copy number gain 15q11q13 microduplication syndrome [RCV000767754] Chr15:23810397..28525505 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787376] Chr15:23699983..28436313 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689) copy number gain 15q11q13 microduplication syndrome [RCV000767722] Chr15:22383299..32917689 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) copy number loss Prader-Willi syndrome [RCV000767726] Chr15:23810184..28525505 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number gain 15q11q13 microduplication syndrome [RCV000767841] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) copy number gain 15q11q13 microduplication syndrome [RCV000767720] Chr15:22382860..32396457 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432) copy number gain 15q11q13 microduplication syndrome [RCV000767723] Chr15:22770994..28517432 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) copy number loss Angelman syndrome [RCV000767724] Chr15:23615768..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) copy number loss Angelman syndrome [RCV000767725] Chr15:23683783..28530182 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.12750A>G (p.Lys4250=) single nucleotide variant not provided [RCV000983704] Chr15:28130215 [GRCh38]
Chr15:28375361 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3749-10T>C single nucleotide variant not provided [RCV000903101] Chr15:28238227 [GRCh38]
Chr15:28483373 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9063T>C (p.Asn3021=) single nucleotide variant not provided [RCV000981192] Chr15:28178987 [GRCh38]
Chr15:28424133 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.6009C>T (p.Ser2003=) single nucleotide variant not provided [RCV000881429] Chr15:28218508 [GRCh38]
Chr15:28463654 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.8187T>C (p.Phe2729=) single nucleotide variant not provided [RCV000909109] Chr15:28196288 [GRCh38]
Chr15:28441434 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.8826-6G>T single nucleotide variant not provided [RCV000896403] Chr15:28182518 [GRCh38]
Chr15:28427664 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3828G>A (p.Ala1276=) single nucleotide variant not provided [RCV000895419] Chr15:28238138 [GRCh38]
Chr15:28483284 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.8898G>A (p.Leu2966=) single nucleotide variant not provided [RCV000967345] Chr15:28182440 [GRCh38]
Chr15:28427586 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.12147G>A (p.Lys4049=) single nucleotide variant not provided [RCV000885652] Chr15:28135561 [GRCh38]
Chr15:28380707 [GRCh37]
Chr15:15q13.1
benign|likely benign
NM_004667.6(HERC2):c.2334A>G (p.Ser778=) single nucleotide variant not provided [RCV000885746] Chr15:28257244 [GRCh38]
Chr15:28502390 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9723T>C (p.Ser3241=) single nucleotide variant not provided [RCV000895558] Chr15:28175620 [GRCh38]
Chr15:28420766 [GRCh37]
Chr15:15q13.1
likely benign
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310) copy number gain 15q11q13 microduplication syndrome [RCV000767718] Chr15:20191652..28525310 [GRCh37]
Chr15:15q11.1-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896) copy number gain 15q11q13 microduplication syndrome [RCV000767753] Chr15:23810184..29213896 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.6262G>A (p.Glu2088Lys) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV000791148] Chr15:28214751 [GRCh38]
Chr15:28459897 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6287T>C (p.Leu2096Pro) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV000791149] Chr15:28214726 [GRCh38]
Chr15:28459872 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7707_7708dup (p.Asn2570fs) microsatellite Developmental delay with autism spectrum disorder and gait instability [RCV000791133] Chr15:28201463..28201464 [GRCh38]
Chr15:28446609..28446610 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_004667.6(HERC2):c.5391C>T (p.His1797=) single nucleotide variant not provided [RCV000893443] Chr15:28228291 [GRCh38]
Chr15:28473437 [GRCh37]
Chr15:15q13.1
benign|likely benign
Single allele complex Esophageal atresia [RCV000986105] Chr15:22676913..30137106 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q13.1(chr15:28440688-28644578)x3 copy number gain not provided [RCV000845993] Chr15:28440688..28644578 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9638G>A (p.Gly3213Glu) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV000791197] Chr15:28176476 [GRCh38]
Chr15:28421622 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1 copy number loss not provided [RCV001006664] Chr15:22770421..36861479 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1 copy number loss not provided [RCV001006665] Chr15:23213406..32446830 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_004667.6(HERC2):c.4126C>T (p.Arg1376Ter) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV000989279] Chr15:28234162 [GRCh38]
Chr15:28479308 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_004667.6(HERC2):c.1770C>T (p.Asp590=) single nucleotide variant not provided [RCV000894569] Chr15:28265718 [GRCh38]
Chr15:28510864 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.2916T>C (p.Asp972=) single nucleotide variant not provided [RCV000981193] Chr15:28254474 [GRCh38]
Chr15:28499620 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.5911C>G (p.Leu1971Val) single nucleotide variant not provided [RCV003238935] Chr15:28218606 [GRCh38]
Chr15:28463752 [GRCh37]
Chr15:15q13.1
likely pathogenic|uncertain significance
NM_004667.6(HERC2):c.10855C>T (p.Pro3619Ser) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001090174] Chr15:28152722 [GRCh38]
Chr15:28397868 [GRCh37]
Chr15:15q13.1
pathogenic|uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:24740574-28659911)x1 copy number loss not provided [RCV001007484] Chr15:24740574..28659911 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3 copy number gain not provided [RCV000846014] Chr15:20179527..32998070 [GRCh37]
Chr15:15q11.1-13.3
pathogenic
Single allele deletion Angelman syndrome [RCV001250750] Chr15:22833416..28566671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q13.1(chr15:28356997-28438862)x3 copy number gain not provided [RCV000846945] Chr15:28356997..28438862 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6379A>G (p.Arg2127Gly) single nucleotide variant Inborn genetic diseases [RCV002549905]|not provided [RCV000995283] Chr15:28214252 [GRCh38]
Chr15:28459398 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4723G>A (p.Glu1575Lys) single nucleotide variant not provided [RCV000995284] Chr15:28230453 [GRCh38]
Chr15:28475599 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1088T>G (p.Leu363Trp) single nucleotide variant not provided [RCV000995285] Chr15:28270864 [GRCh38]
Chr15:28516010 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001331288]|Prader-Willi syndrome [RCV001196115] Chr15:28196569 [GRCh38]
Chr15:28441715 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q12-13.2(chr15:27666103-30386553)x1 copy number loss not provided [RCV000845688] Chr15:27666103..30386553 [GRCh37]
Chr15:15q12-13.2
uncertain significance
NM_004667.6(HERC2):c.7372G>A (p.Ala2458Thr) single nucleotide variant Inborn genetic diseases [RCV003247643]|not provided [RCV003320931] Chr15:28202455 [GRCh38]
Chr15:28447601 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5347G>A (p.Ala1783Thr) single nucleotide variant not provided [RCV003318212] Chr15:28228335 [GRCh38]
Chr15:28473481 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1442C>T (p.Thr481Met) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV000989280]|not provided [RCV003392718] Chr15:28269252 [GRCh38]
Chr15:28514398 [GRCh37]
Chr15:15q13.1
likely pathogenic|uncertain significance
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His) single nucleotide variant Inborn genetic diseases [RCV002561055]|Prader-Willi syndrome [RCV001197669] Chr15:28228331 [GRCh38]
Chr15:28473477 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4892C>T (p.Pro1631Leu) single nucleotide variant not provided [RCV001093229] Chr15:28229765 [GRCh38]
Chr15:28474911 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5662C>T (p.Pro1888Ser) single nucleotide variant not provided [RCV003235971] Chr15:28220635 [GRCh38]
Chr15:28465781 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11498C>T (p.Pro3833Leu) single nucleotide variant Inborn genetic diseases [RCV003291554] Chr15:28142873 [GRCh38]
Chr15:28388019 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.14195C>T (p.Thr4732Ile) single nucleotide variant not provided [RCV001569757] Chr15:28113108 [GRCh38]
Chr15:28358254 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3811C>T (p.Arg1271Trp) single nucleotide variant not provided [RCV003318016] Chr15:28238155 [GRCh38]
Chr15:28483301 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5465-5A>G single nucleotide variant not specified [RCV003317866] Chr15:28222220 [GRCh38]
Chr15:28467366 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11300-15C>G single nucleotide variant not specified [RCV003317867] Chr15:28144006 [GRCh38]
Chr15:28389152 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9254+25T>C single nucleotide variant not provided [RCV001677286] Chr15:28177394 [GRCh38]
Chr15:28422540 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.3660A>C (p.Lys1220Asn) single nucleotide variant not provided [RCV001588425] Chr15:28238690 [GRCh38]
Chr15:28483836 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10194A>G (p.Ser3398=) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001702130]|not provided [RCV001610943] Chr15:28169519 [GRCh38]
Chr15:28414665 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.10326G>A (p.Met3442Ile) single nucleotide variant not provided [RCV001654061] Chr15:28168494 [GRCh38]
Chr15:28413640 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.13234C>G (p.Arg4412Gly) single nucleotide variant Inborn genetic diseases [RCV003246986]|not provided [RCV001561926] Chr15:28121384 [GRCh38]
Chr15:28366530 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11944C>T (p.Leu3982Phe) single nucleotide variant not provided [RCV001557833] Chr15:28141503 [GRCh38]
Chr15:28386649 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6926-15T>A single nucleotide variant not provided [RCV001614613] Chr15:28211160 [GRCh38]
Chr15:28456306 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.9939C>T (p.Arg3313=) single nucleotide variant not provided [RCV001559538] Chr15:28174513 [GRCh38]
Chr15:28419659 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.11967G>A (p.Gln3989=) single nucleotide variant not provided [RCV001594800] Chr15:28141480 [GRCh38]
Chr15:28386626 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.12408+27G>A single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001703320] Chr15:28132626 [GRCh38]
Chr15:28377772 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.2448C>T (p.Ser816=) single nucleotide variant not provided [RCV000962508] Chr15:28257130 [GRCh38]
Chr15:28502276 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.11991C>G (p.Leu3997=) single nucleotide variant not provided [RCV000899906] Chr15:28141456 [GRCh38]
Chr15:28386602 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.13305C>T (p.Ala4435=) single nucleotide variant not provided [RCV000907689] Chr15:28117122 [GRCh38]
Chr15:28362268 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9726C>T (p.Asp3242=) single nucleotide variant not provided [RCV000908420] Chr15:28175617 [GRCh38]
Chr15:28420763 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9358C>T (p.Leu3120=) single nucleotide variant not provided [RCV000909904] Chr15:28177024 [GRCh38]
Chr15:28422170 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.8097A>G (p.Val2699=) single nucleotide variant not provided [RCV000908483] Chr15:28196484 [GRCh38]
Chr15:28441630 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3133C>T (p.Arg1045Cys) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001824904]|Prader-Willi syndrome [RCV002502677]|not provided [RCV000903154] Chr15:28248654 [GRCh38]
Chr15:28493800 [GRCh37]
Chr15:15q13.1
likely benign|not provided
NM_004667.6(HERC2):c.6117A>G (p.Val2039=) single nucleotide variant not provided [RCV000885745] Chr15:28215714 [GRCh38]
Chr15:28460860 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.4296C>T (p.Pro1432=) single nucleotide variant not provided [RCV000907690] Chr15:28233719 [GRCh38]
Chr15:28478865 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.13707C>T (p.Ile4569=) single nucleotide variant not provided [RCV000908662] Chr15:28115444 [GRCh38]
Chr15:28360590 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.643+5G>A single nucleotide variant not provided [RCV000881929] Chr15:28274900 [GRCh38]
Chr15:28520046 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3196T>C (p.Tyr1066His) single nucleotide variant not provided [RCV000962354] Chr15:28248591 [GRCh38]
Chr15:28493737 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.2463G>A (p.Pro821=) single nucleotide variant not provided [RCV000888399] Chr15:28257115 [GRCh38]
Chr15:28502261 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3050+8G>T single nucleotide variant not provided [RCV000892690] Chr15:28254332 [GRCh38]
Chr15:28499478 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.6150G>A (p.Thr2050=) single nucleotide variant not provided [RCV000880007] Chr15:28215681 [GRCh38]
Chr15:28460827 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9180G>A (p.Thr3060=) single nucleotide variant not provided [RCV000886351] Chr15:28177493 [GRCh38]
Chr15:28422639 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3987C>T (p.Val1329=) single nucleotide variant not provided [RCV000882466] Chr15:28236979 [GRCh38]
Chr15:28482125 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9792C>T (p.Val3264=) single nucleotide variant not provided [RCV000888544] Chr15:28175551 [GRCh38]
Chr15:28420697 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.726C>T (p.Asp242=) single nucleotide variant not provided [RCV000948948] Chr15:28274365 [GRCh38]
Chr15:28519511 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.10431C>T (p.Asp3477=) single nucleotide variant not provided [RCV000965285] Chr15:28167810 [GRCh38]
Chr15:28412956 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.5040C>G (p.Ser1680Arg) single nucleotide variant not provided [RCV000955488] Chr15:28229540 [GRCh38]
Chr15:28474686 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4 copy number gain not provided [RCV001006662] Chr15:22770421..30386553 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_004667.6(HERC2):c.1150G>A (p.Glu384Lys) single nucleotide variant not provided [RCV001093231] Chr15:28270802 [GRCh38]
Chr15:28515948 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.406T>G (p.Ser136Ala) single nucleotide variant not provided [RCV001093232] Chr15:28280204 [GRCh38]
Chr15:28525350 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe) single nucleotide variant Prader-Willi syndrome [RCV001197668]|not provided [RCV002267082] Chr15:28167817 [GRCh38]
Chr15:28412963 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3903T>A (p.Pro1301=) single nucleotide variant not provided [RCV000890153] Chr15:28237063 [GRCh38]
Chr15:28482209 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.12612C>T (p.Cys4204=) single nucleotide variant not provided [RCV000958203] Chr15:28130553 [GRCh38]
Chr15:28375699 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.5782C>T (p.Leu1928=) single nucleotide variant not provided [RCV000889516] Chr15:28220515 [GRCh38]
Chr15:28465661 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.10692G>A (p.Arg3564=) single nucleotide variant not provided [RCV000890152] Chr15:28163148 [GRCh38]
Chr15:28408294 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.1281T>C (p.Gly427=) single nucleotide variant not provided [RCV000890154] Chr15:28269413 [GRCh38]
Chr15:28514559 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.12234G>A (p.Pro4078=) single nucleotide variant not provided [RCV000890823] Chr15:28132827 [GRCh38]
Chr15:28377973 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9192C>T (p.Val3064=) single nucleotide variant not provided [RCV000957250] Chr15:28177481 [GRCh38]
Chr15:28422627 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.7768_7772dup (p.Gly2592fs) duplication SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000991452] Chr15:28198713..28198714 [GRCh38]
Chr15:28443859..28443860 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_004667.6(HERC2):c.8512G>A (p.Asp2838Asn) single nucleotide variant not provided [RCV003234512] Chr15:28191184 [GRCh38]
Chr15:28436330 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7318G>A (p.Val2440Met) single nucleotide variant not provided [RCV002469500] Chr15:28202509 [GRCh38]
Chr15:28447655 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3734_3745del (p.Gly1245_Leu1249delinsVal) deletion not provided [RCV001544740] Chr15:28238605..28238616 [GRCh38]
Chr15:28483751..28483762 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9113A>G (p.Gln3038Arg) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV002471892] Chr15:28178937 [GRCh38]
Chr15:28424083 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.599C>T (p.Ala200Val) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV002471893] Chr15:28274949 [GRCh38]
Chr15:28520095 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q12-13.1(chr15:27932902-28545459)x3 copy number gain not provided [RCV002473883] Chr15:27932902..28545459 [GRCh37]
Chr15:15q12-13.1
uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4 copy number gain not provided [RCV002473944] Chr15:22770422..30386553 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_004667.6(HERC2):c.5577A>T (p.Ser1859=) single nucleotide variant not provided [RCV001532248] Chr15:28222103 [GRCh38]
Chr15:28467249 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.5448G>A (p.Thr1816=) single nucleotide variant not provided [RCV001532249] Chr15:28228234 [GRCh38]
Chr15:28473380 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9175G>A (p.Ala3059Thr) single nucleotide variant not provided [RCV001596601] Chr15:28177498 [GRCh38]
Chr15:28422644 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3631C>T (p.Arg1211Cys) single nucleotide variant not provided [RCV001587923] Chr15:28238719 [GRCh38]
Chr15:28483865 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9903A>G (p.Thr3301=) single nucleotide variant not provided [RCV001673611] Chr15:28174549 [GRCh38]
Chr15:28419695 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4 copy number gain not provided [RCV001006663] Chr15:22770421..32915089 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_004667.6(HERC2):c.5546A>G (p.Lys1849Arg) single nucleotide variant not provided [RCV001585222] Chr15:28222134 [GRCh38]
Chr15:28467280 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5580A>G (p.Gly1860=) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001702349] Chr15:28222100 [GRCh38]
Chr15:28467246 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.2445T>C (p.Gly815=) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001703321] Chr15:28257133 [GRCh38]
Chr15:28502279 [GRCh37]
Chr15:15q13.1
benign
NM_004667.6(HERC2):c.11981A>C (p.Glu3994Ala) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001614480] Chr15:28141466 [GRCh38]
Chr15:28386612 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7886-9C>A single nucleotide variant not provided [RCV001540390] Chr15:28198512 [GRCh38]
Chr15:28443658 [GRCh37]
Chr15:15q13.1
benign
GRCh37/hg19 15q12-13.1(chr15:27571956-28600013) copy number loss Developmental delay with autism spectrum disorder and gait instability [RCV001004084] Chr15:27571956..28600013 [GRCh37]
Chr15:15q12-13.1
pathogenic
NM_004667.6(HERC2):c.10075G>T (p.Asp3359Tyr) single nucleotide variant not provided [RCV001529109] Chr15:28169638 [GRCh38]
Chr15:28414784 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9607A>C (p.Asn3203His) single nucleotide variant not provided [RCV001093228] Chr15:28176507 [GRCh38]
Chr15:28421653 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4317G>T (p.Leu1439Phe) single nucleotide variant not provided [RCV001093230] Chr15:28233698 [GRCh38]
Chr15:28478844 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met) single nucleotide variant Prader-Willi syndrome [RCV001196468] Chr15:28191016 [GRCh38]
Chr15:28436162 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11701-1G>A single nucleotide variant Prader-Willi syndrome [RCV001198553] Chr15:28141847 [GRCh38]
Chr15:28386993 [GRCh37]
Chr15:15q13.1
pathogenic
NM_004667.6(HERC2):c.922T>G (p.Ser308Ala) single nucleotide variant Inborn genetic diseases [RCV001267265] Chr15:28272376 [GRCh38]
Chr15:28517522 [GRCh37]
Chr15:15q13.1
uncertain significance
Single allele duplication 15q11q13 microduplication syndrome [RCV002280354] Chr15:22810652..29822566 [GRCh38]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.13709_13710del (p.Ala4570fs) microsatellite Developmental delay with autism spectrum disorder and gait instability [RCV001262497] Chr15:28115441..28115442 [GRCh38]
Chr15:28360587..28360588 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8820C>G (p.Ser2940Arg) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001334312]|not provided [RCV003132426] Chr15:28186582 [GRCh38]
Chr15:28431728 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9909G>A (p.Val3303=) single nucleotide variant not provided [RCV001311383] Chr15:28174543 [GRCh38]
Chr15:28419689 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.637C>T (p.Arg213Ter) single nucleotide variant not provided [RCV001311385] Chr15:28274911 [GRCh38]
Chr15:28520057 [GRCh37]
Chr15:15q13.1
pathogenic
NM_004667.6(HERC2):c.13034C>T (p.Ala4345Val) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001333284] Chr15:28124191 [GRCh38]
Chr15:28369337 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9623G>A (p.Cys3208Tyr) single nucleotide variant Inborn genetic diseases [RCV001265665] Chr15:28176491 [GRCh38]
Chr15:28421637 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10456C>G (p.Pro3486Ala) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001262213] Chr15:28167785 [GRCh38]
Chr15:28412931 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7576G>A (p.Glu2526Lys) single nucleotide variant Inborn genetic diseases [RCV001267264] Chr15:28202154 [GRCh38]
Chr15:28447300 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29057676)x3 copy number gain FETAL DEMISE [RCV002282734] Chr15:22770421..29057676 [GRCh37]
Chr15:15q11.2-13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28522838) copy number loss Angelman syndrome [RCV002280757] Chr15:23615768..28522838 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399) copy number loss Angelman syndrome [RCV002280759] Chr15:23285775..30386399 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_004667.6(HERC2):c.9110G>A (p.Arg3037Gln) single nucleotide variant Inborn genetic diseases [RCV001267517] Chr15:28178940 [GRCh38]
Chr15:28424086 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12570+4T>A single nucleotide variant Inborn genetic diseases [RCV001267518] Chr15:28132096 [GRCh38]
Chr15:28377242 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23616095-28538904)x1 copy number loss not provided [RCV001537909] Chr15:23616095..28538904 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.6671T>C (p.Met2224Thr) single nucleotide variant Inborn genetic diseases [RCV001265664] Chr15:28213857 [GRCh38]
Chr15:28459003 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12002C>T (p.Thr4001Met) single nucleotide variant not provided [RCV002280577] Chr15:28141445 [GRCh38]
Chr15:28386591 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13374C>G (p.Ser4458Arg) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001329945] Chr15:28117053 [GRCh38]
Chr15:28362199 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6385C>T (p.Arg2129Cys) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001334308] Chr15:28214246 [GRCh38]
Chr15:28459392 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4154G>A (p.Gly1385Glu) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001333290] Chr15:28234134 [GRCh38]
Chr15:28479280 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4342G>A (p.Glu1448Lys) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001333291] Chr15:28233673 [GRCh38]
Chr15:28478819 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4370T>C (p.Leu1457Ser) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001331284] Chr15:28233543 [GRCh38]
Chr15:28478689 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8305C>T (p.Arg2769Cys) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001334310]|Inborn genetic diseases [RCV003339601] Chr15:28192107 [GRCh38]
Chr15:28437253 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2766C>G (p.Asn922Lys) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001333287]|Inborn genetic diseases [RCV002546622]|not provided [RCV001751652] Chr15:28255977 [GRCh38]
Chr15:28501123 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4582C>T (p.Leu1528Phe) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001333292]|not specified [RCV002265986] Chr15:28233239 [GRCh38]
Chr15:28478385 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23707435-28726651)x1 copy number loss not provided [RCV001281355] Chr15:23707435..28726651 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.10340A>G (p.Asn3447Ser) single nucleotide variant not provided [RCV001787564] Chr15:28168480 [GRCh38]
Chr15:28413626 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.254A>G (p.Glu85Gly) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001333286]|Inborn genetic diseases [RCV003284211] Chr15:28292956 [GRCh38]
Chr15:28538102 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5841C>G (p.Asp1947Glu) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001333293] Chr15:28220456 [GRCh38]
Chr15:28465602 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6555+3G>A single nucleotide variant not provided [RCV001311384] Chr15:28214073 [GRCh38]
Chr15:28459219 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.12943G>A (p.Ala4315Thr) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001333283] Chr15:28125053 [GRCh38]
Chr15:28370199 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13861C>T (p.His4621Tyr) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001329946] Chr15:28114664 [GRCh38]
Chr15:28359810 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2236C>T (p.Arg746Cys) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001329948]|not provided [RCV002291297] Chr15:28260857 [GRCh38]
Chr15:28506003 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.698G>A (p.Arg233Gln) single nucleotide variant not provided [RCV002280054] Chr15:28274393 [GRCh38]
Chr15:28519539 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23208842-28525460) copy number gain Epileptic encephalopathy [RCV001291989] Chr15:23208842..28525460 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.8179G>C (p.Asp2727His) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001334309]|not provided [RCV001545114] Chr15:28196296 [GRCh38]
Chr15:28441442 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8509G>A (p.Val2837Ile) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001334311] Chr15:28191187 [GRCh38]
Chr15:28436333 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12599T>C (p.Val4200Ala) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001329944] Chr15:28130566 [GRCh38]
Chr15:28375712 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.233A>G (p.Asp78Gly) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001329949]|not provided [RCV001751642] Chr15:28292977 [GRCh38]
Chr15:28538123 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.14498G>A (p.Gly4833Glu) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001329947]|not provided [RCV001776200] Chr15:28111770 [GRCh38]
Chr15:28356916 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3596A>G (p.Gln1199Arg) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001333289]|Inborn genetic diseases [RCV002546624] Chr15:28238754 [GRCh38]
Chr15:28483900 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.10:g.22804175_30375696dup duplication 15q11q13 microduplication syndrome [RCV001420629] Chr15:22804175..30375696 [GRCh38]
Chr15:15q11.2-13.2
pathogenic
NM_004667.6(HERC2):c.10651G>T (p.Asp3551Tyr) single nucleotide variant not provided [RCV001539415] Chr15:28163189 [GRCh38]
Chr15:28408335 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9992C>T (p.Thr3331Met) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001780442]|Inborn genetic diseases [RCV002540695]|not provided [RCV001755533] Chr15:28174460 [GRCh38]
Chr15:28419606 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10993G>A (p.Val3665Ile) single nucleotide variant See cases [RCV002252581] Chr15:28146252 [GRCh38]
Chr15:28391398 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8229C>G (p.Thr2743=) single nucleotide variant not provided [RCV001726937] Chr15:28196246 [GRCh38]
Chr15:28441392 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3687C>T (p.Asp1229=) single nucleotide variant Prader-Willi syndrome [RCV002496050]|not provided [RCV001726939] Chr15:28238663 [GRCh38]
Chr15:28483809 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.13036C>A (p.Leu4346Met) single nucleotide variant not provided [RCV001755491] Chr15:28124189 [GRCh38]
Chr15:28369335 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5799T>A (p.Ala1933=) single nucleotide variant not provided [RCV001726938] Chr15:28220498 [GRCh38]
Chr15:28465644 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.4648A>G (p.Ile1550Val) single nucleotide variant not provided [RCV001755465] Chr15:28233173 [GRCh38]
Chr15:28478319 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7941C>A (p.Val2647=) single nucleotide variant not provided [RCV001755295] Chr15:28198448 [GRCh38]
Chr15:28443594 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13544G>A (p.Arg4515Gln) single nucleotide variant not provided [RCV002272082] Chr15:28116730 [GRCh38]
Chr15:28361876 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2743G>A (p.Ala915Thr) single nucleotide variant not provided [RCV001757317] Chr15:28256092 [GRCh38]
Chr15:28501238 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3651C>A (p.Asn1217Lys) single nucleotide variant not provided [RCV001776852] Chr15:28238699 [GRCh38]
Chr15:28483845 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9937C>G (p.Arg3313Gly) single nucleotide variant not provided [RCV001776866] Chr15:28174515 [GRCh38]
Chr15:28419661 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6373C>T (p.Arg2125Trp) single nucleotide variant Inborn genetic diseases [RCV002541080]|not provided [RCV001776876] Chr15:28214258 [GRCh38]
Chr15:28459404 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9832G>A (p.Val3278Met) single nucleotide variant not provided [RCV001776877] Chr15:28174620 [GRCh38]
Chr15:28419766 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1426G>A (p.Ala476Thr) single nucleotide variant See cases [RCV002252582] Chr15:28269268 [GRCh38]
Chr15:28514414 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5407G>A (p.Asp1803Asn) single nucleotide variant not provided [RCV001759007] Chr15:28228275 [GRCh38]
Chr15:28473421 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3316G>C (p.Val1106Leu) single nucleotide variant not provided [RCV001776925] Chr15:28246817 [GRCh38]
Chr15:28491963 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5392G>A (p.Gly1798Ser) single nucleotide variant not provided [RCV001769531] Chr15:28228290 [GRCh38]
Chr15:28473436 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2462C>T (p.Pro821Leu) single nucleotide variant not provided [RCV001774956] Chr15:28257116 [GRCh38]
Chr15:28502262 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7330C>T (p.Arg2444Cys) single nucleotide variant Inborn genetic diseases [RCV003163928]|not provided [RCV001787660] Chr15:28202497 [GRCh38]
Chr15:28447643 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3986T>C (p.Val1329Ala) single nucleotide variant Inborn genetic diseases [RCV002541061]|not provided [RCV001776472] Chr15:28236980 [GRCh38]
Chr15:28482126 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13702A>G (p.Thr4568Ala) single nucleotide variant not provided [RCV001768083] Chr15:28115449 [GRCh38]
Chr15:28360595 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11962G>A (p.Val3988Met) single nucleotide variant not provided [RCV001768204] Chr15:28141485 [GRCh38]
Chr15:28386631 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9179C>T (p.Thr3060Met) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV003147651]|not provided [RCV001753249] Chr15:28177494 [GRCh38]
Chr15:28422640 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11541T>G (p.Phe3847Leu) single nucleotide variant Inborn genetic diseases [RCV002540688]|not provided [RCV001768336]|not specified [RCV002246480] Chr15:28142830 [GRCh38]
Chr15:28387976 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8944G>T (p.Val2982Phe) single nucleotide variant not provided [RCV001768382] Chr15:28179217 [GRCh38]
Chr15:28424363 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6628A>G (p.Ile2210Val) single nucleotide variant not provided [RCV001768394] Chr15:28213900 [GRCh38]
Chr15:28459046 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10193_10194inv (p.Ser3398Leu) inversion not provided [RCV001774895] Chr15:28169519..28169520 [GRCh38]
Chr15:28414665..28414666 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7727T>C (p.Met2576Thr) single nucleotide variant not provided [RCV001767925] Chr15:28198759 [GRCh38]
Chr15:28443905 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2774C>T (p.Pro925Leu) single nucleotide variant not provided [RCV001776339] Chr15:28255969 [GRCh38]
Chr15:28501115 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5620A>T (p.Met1874Leu) single nucleotide variant not provided [RCV001776494] Chr15:28222060 [GRCh38]
Chr15:28467206 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.14422G>A (p.Asp4808Asn) single nucleotide variant not provided [RCV001776511] Chr15:28111846 [GRCh38]
Chr15:28356992 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.14015C>T (p.Thr4672Met) single nucleotide variant Inborn genetic diseases [RCV002540670]|not provided [RCV001769821] Chr15:28113577 [GRCh38]
Chr15:28358723 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2024A>G (p.Asp675Gly) single nucleotide variant not provided [RCV001757578] Chr15:28263016 [GRCh38]
Chr15:28508162 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3357G>A (p.Ala1119=) single nucleotide variant not provided [RCV001753038] Chr15:28246776 [GRCh38]
Chr15:28491922 [GRCh37]
Chr15:15q13.1
conflicting interpretations of pathogenicity|uncertain significance
NM_004667.6(HERC2):c.6091C>T (p.Arg2031Trp) single nucleotide variant not provided [RCV001753240] Chr15:28215740 [GRCh38]
Chr15:28460886 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7331G>A (p.Arg2444His) single nucleotide variant not provided [RCV001766238] Chr15:28202496 [GRCh38]
Chr15:28447642 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13135G>A (p.Gly4379Arg) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001801256] Chr15:28124090 [GRCh38]
Chr15:28369236 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5795C>T (p.Pro1932Leu) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001801257] Chr15:28220502 [GRCh38]
Chr15:28465648 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7307C>T (p.Thr2436Met) single nucleotide variant not provided [RCV001757376] Chr15:28202520 [GRCh38]
Chr15:28447666 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11914A>G (p.Lys3972Glu) single nucleotide variant not provided [RCV001757470] Chr15:28141533 [GRCh38]
Chr15:28386679 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11267C>T (p.Ser3756Leu) single nucleotide variant not provided [RCV001776708] Chr15:28144109 [GRCh38]
Chr15:28389255 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5678G>A (p.Arg1893His) single nucleotide variant not provided [RCV001757498] Chr15:28220619 [GRCh38]
Chr15:28465765 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12282C>T (p.Val4094=) single nucleotide variant not provided [RCV001816148] Chr15:28132779 [GRCh38]
Chr15:28377925 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9515-12T>A single nucleotide variant not provided [RCV001768353] Chr15:28176611 [GRCh38]
Chr15:28421757 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9902_9903inv (p.Thr3301Met) inversion not provided [RCV001757748] Chr15:28174549..28174550 [GRCh38]
Chr15:28419695..28419696 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8537C>T (p.Pro2846Leu) single nucleotide variant not provided [RCV001776899] Chr15:28191159 [GRCh38]
Chr15:28436305 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.304G>C (p.Val102Leu) single nucleotide variant not provided [RCV001777052] Chr15:28292906 [GRCh38]
Chr15:28538052 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.645C>T (p.Gly215=) single nucleotide variant not provided [RCV001777117] Chr15:28274446 [GRCh38]
Chr15:28519592 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12914G>A (p.Arg4305His) single nucleotide variant not provided [RCV001759168] Chr15:28125082 [GRCh38]
Chr15:28370228 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11973C>T (p.Ile3991=) single nucleotide variant not provided [RCV001815775] Chr15:28141474 [GRCh38]
Chr15:28386620 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9831+7C>T single nucleotide variant not provided [RCV001816149] Chr15:28175505 [GRCh38]
Chr15:28420651 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6615A>G (p.Ala2205=) single nucleotide variant not provided [RCV001816150] Chr15:28213913 [GRCh38]
Chr15:28459059 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.6123C>T (p.Gly2041=) single nucleotide variant not provided [RCV001816151] Chr15:28215708 [GRCh38]
Chr15:28460854 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.215A>C (p.Lys72Thr) single nucleotide variant not provided [RCV001816152] Chr15:28292995 [GRCh38]
Chr15:28538141 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.187+153G>A single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001809140] Chr15:28299249 [GRCh38]
Chr15:28544395 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q13.1-13.2(chr15:28394664-31122895)x1 copy number loss not provided [RCV001836487] Chr15:28394664..31122895 [GRCh37]
Chr15:15q13.1-13.2
uncertain significance
NM_004667.6(HERC2):c.6124G>A (p.Ala2042Thr) single nucleotide variant not provided [RCV001837136] Chr15:28215707 [GRCh38]
Chr15:28460853 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1168C>T (p.Arg390Ter) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001839180] Chr15:28270784 [GRCh38]
Chr15:28515930 [GRCh37]
Chr15:15q13.1
pathogenic
NM_004667.6(HERC2):c.13438G>A (p.Gly4480Ser) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV001839181] Chr15:28116836 [GRCh38]
Chr15:28361982 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_26792940)_(28544682_?)dup duplication Epilepsy, childhood absence, susceptibility to, 1 [RCV003107872]|not provided [RCV001874738] Chr15:26792940..28544682 [GRCh37]
Chr15:15q12-13.1
uncertain significance|no classifications from unflagged records
NM_004667.6(HERC2):c.4661G>A (p.Arg1554Gln) single nucleotide variant not provided [RCV001837135] Chr15:28233160 [GRCh38]
Chr15:28478306 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7480+4C>G single nucleotide variant not provided [RCV001843617] Chr15:28202343 [GRCh38]
Chr15:28447489 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.410C>T (p.Ala137Val) single nucleotide variant not provided [RCV001843605] Chr15:28280200 [GRCh38]
Chr15:28525346 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.10:g.23370759_30529376del deletion Angelman syndrome [RCV001839262] Chr15:23370759..30529376 [GRCh38]
Chr15:15q11.2-13.2
pathogenic
NC_000015.9:g.(?_26792940)_(28544682_?)del deletion not provided [RCV001972406] Chr15:26792940..28544682 [GRCh37]
Chr15:15q12-13.1
pathogenic
NC_000015.9:g.(?_28090085)_(28544682_?)dup duplication not provided [RCV002015408] Chr15:28090085..28544682 [GRCh37]
Chr15:15q12-13.1
uncertain significance
NM_004667.6(HERC2):c.12447C>T (p.Ala4149=) single nucleotide variant not provided [RCV002211289] Chr15:28132223 [GRCh38]
Chr15:28377369 [GRCh37]
Chr15:15q13.1
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058) copy number loss Prader-Willi syndrome [RCV002280643] Chr15:22770421..28635058 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.11170G>A (p.Val3724Ile) single nucleotide variant not provided [RCV002222855] Chr15:28144206 [GRCh38]
Chr15:28389352 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_28267627)_(28391510_?)dup duplication not provided [RCV003109327] Chr15:28267627..28391510 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(?_28475513)_(28475646_?)del deletion not provided [RCV003113567] Chr15:28475513..28475646 [GRCh37]
Chr15:15q13.1
pathogenic
NC_000015.9:g.(?_28544548)_(28544662_?)dup duplication not provided [RCV003113568] Chr15:28544548..28544662 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_004667.6(HERC2):c.5453T>C (p.Leu1818Pro) single nucleotide variant not provided [RCV003131111] Chr15:28228229 [GRCh38]
Chr15:28473375 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2655C>T (p.Ala885=) single nucleotide variant not provided [RCV003131112] Chr15:28256180 [GRCh38]
Chr15:28501326 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3260C>T (p.Ser1087Phe) single nucleotide variant not provided [RCV003131113] Chr15:28246873 [GRCh38]
Chr15:28492019 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4497C>A (p.Gly1499=) single nucleotide variant not provided [RCV003131115] Chr15:28233324 [GRCh38]
Chr15:28478470 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12416C>T (p.Ala4139Val) single nucleotide variant not provided [RCV003131119] Chr15:28132254 [GRCh38]
Chr15:28377400 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13570G>A (p.Ala4524Thr) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV003234236]|not provided [RCV003131123] Chr15:28116704 [GRCh38]
Chr15:28361850 [GRCh37]
Chr15:15q13.1
uncertain significance|not provided
NM_004667.6(HERC2):c.545C>T (p.Ser182Phe) single nucleotide variant not provided [RCV003131124] Chr15:28275003 [GRCh38]
Chr15:28520149 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3549T>G (p.His1183Gln) single nucleotide variant Inborn genetic diseases [RCV003093946]|not provided [RCV002244436] Chr15:28245909 [GRCh38]
Chr15:28491055 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4352-1G>A single nucleotide variant See cases [RCV002252493] Chr15:28233562 [GRCh38]
Chr15:28478708 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_004667.6(HERC2):c.1762A>G (p.Ser588Gly) single nucleotide variant See cases [RCV002253008] Chr15:28265726 [GRCh38]
Chr15:28510872 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.612C>T (p.Ala204=) single nucleotide variant not provided [RCV003131116] Chr15:28274936 [GRCh38]
Chr15:28520082 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12406C>A (p.Leu4136Met) single nucleotide variant not provided [RCV003154391] Chr15:28132655 [GRCh38]
Chr15:28377801 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8751_8753del (p.Glu2918del) deletion not provided [RCV003234404] Chr15:28186649..28186651 [GRCh38]
Chr15:28431795..28431797 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1570G>A (p.Gly524Ser) single nucleotide variant Inborn genetic diseases [RCV003254930] Chr15:28268493 [GRCh38]
Chr15:28513639 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11218C>T (p.Arg3740Ter) single nucleotide variant not provided [RCV003229971] Chr15:28144158 [GRCh38]
Chr15:28389304 [GRCh37]
Chr15:15q13.1
likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579) copy number gain 15q11q13 microduplication syndrome [RCV003236743] Chr15:23684691..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.13600C>T (p.Arg4534Cys) single nucleotide variant not provided [RCV002278869] Chr15:28116674 [GRCh38]
Chr15:28361820 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2627C>T (p.Ala876Val) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV002272684] Chr15:28256208 [GRCh38]
Chr15:28501354 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1 copy number loss not provided [RCV002292908] Chr15:20739497..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.10937G>C (p.Cys3646Ser) single nucleotide variant not provided [RCV002275862] Chr15:28146308 [GRCh38]
Chr15:28391454 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2359C>T (p.Arg787Cys) single nucleotide variant not provided [RCV002267319] Chr15:28257219 [GRCh38]
Chr15:28502365 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601) copy number gain 15q11q13 microduplication syndrome [RCV002280725] Chr15:23620191..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.14336A>G (p.Glu4779Gly) single nucleotide variant not provided [RCV002274727] Chr15:28111932 [GRCh38]
Chr15:28357078 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9431T>C (p.Met3144Thr) single nucleotide variant not provided [RCV002291397] Chr15:28176951 [GRCh38]
Chr15:28422097 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8024A>G (p.Asn2675Ser) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV002290271] Chr15:28196557 [GRCh38]
Chr15:28441703 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8937+4C>T single nucleotide variant not provided [RCV002262458] Chr15:28182397 [GRCh38]
Chr15:28427543 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.7383C>T (p.Ile2461=) single nucleotide variant not provided [RCV002262459] Chr15:28202444 [GRCh38]
Chr15:28447590 [GRCh37]
Chr15:15q13.1
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014) copy number loss Angelman syndrome [RCV002280760] Chr15:22770421..29855014 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.9727G>A (p.Val3243Met) single nucleotide variant not provided [RCV002292158] Chr15:28175616 [GRCh38]
Chr15:28420762 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10711G>T (p.Ala3571Ser) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV002272662] Chr15:28163129 [GRCh38]
Chr15:28408275 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(28443916_28446601)_(28447761_28451385)dup duplication not specified [RCV003236538] Chr15:28446601..28447761 [GRCh37]
Chr15:15q13.1
uncertain significance
NC_000015.9:g.(28538169_28544547)_(28544663_28566507)dup duplication Developmental delay with autism spectrum disorder and gait instability [RCV003236539] Chr15:28544547..28544663 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_004667.6(HERC2):c.13279C>T (p.Arg4427Ter) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV002266820] Chr15:28117148 [GRCh38]
Chr15:28362294 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_004667.6(HERC2):c.4091G>A (p.Cys1364Tyr) single nucleotide variant Inborn genetic diseases [RCV003096034]|not provided [RCV003154063]|not specified [RCV002266402] Chr15:28234197 [GRCh38]
Chr15:28479343 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23689315-28644578) copy number loss Angelman syndrome [RCV002280761] Chr15:23689315..28644578 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.6722A>G (p.Lys2241Arg) single nucleotide variant not provided [RCV002291945] Chr15:28213806 [GRCh38]
Chr15:28458952 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4611A>C (p.Leu1537Phe) single nucleotide variant Inborn genetic diseases [RCV003355851]|not provided [RCV002291961] Chr15:28233210 [GRCh38]
Chr15:28478356 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.14106G>C (p.Gln4702His) single nucleotide variant not provided [RCV002292036] Chr15:28113197 [GRCh38]
Chr15:28358343 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9885G>A (p.Thr3295=) single nucleotide variant not provided [RCV002262457] Chr15:28174567 [GRCh38]
Chr15:28419713 [GRCh37]
Chr15:15q13.1
benign|likely benign
GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368) copy number gain See cases [RCV002286340] Chr15:30370019..30374368 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_004667.6(HERC2):c.9074G>C (p.Gly3025Ala) single nucleotide variant not provided [RCV002293795] Chr15:28178976 [GRCh38]
Chr15:28424122 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x1 copy number loss See cases [RCV002286346] Chr15:23288374..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.13750A>C (p.Met4584Leu) single nucleotide variant not provided [RCV002274652] Chr15:28114775 [GRCh38]
Chr15:28359921 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5395G>A (p.Ala1799Thr) single nucleotide variant not provided [RCV002283311] Chr15:28228287 [GRCh38]
Chr15:28473433 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10874C>T (p.Ser3625Phe) single nucleotide variant Inborn genetic diseases [RCV003263023] Chr15:28152703 [GRCh38]
Chr15:28397849 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13894C>T (p.Arg4632Trp) single nucleotide variant not provided [RCV003131114] Chr15:28114631 [GRCh38]
Chr15:28359777 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6748C>T (p.Arg2250Trp) single nucleotide variant not provided [RCV003131117] Chr15:28213780 [GRCh38]
Chr15:28458926 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8740C>T (p.Arg2914Cys) single nucleotide variant not provided [RCV003131120] Chr15:28186662 [GRCh38]
Chr15:28431808 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12787_12791dup (p.Thr4265fs) duplication Developmental delay with autism spectrum disorder and gait instability [RCV003153178] Chr15:28130173..28130174 [GRCh38]
Chr15:28375319..28375320 [GRCh37]
Chr15:15q13.1
likely pathogenic
NM_004667.6(HERC2):c.13072G>A (p.Glu4358Lys) single nucleotide variant not provided [RCV003152252] Chr15:28124153 [GRCh38]
Chr15:28369299 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6365C>G (p.Thr2122Arg) single nucleotide variant not provided [RCV003154356] Chr15:28214266 [GRCh38]
Chr15:28459412 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13531T>G (p.Ser4511Ala) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV003130936] Chr15:28116743 [GRCh38]
Chr15:28361889 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3 copy number gain not provided [RCV002474488] Chr15:23615769..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1 copy number loss not provided [RCV002474513] Chr15:23615769..28534245 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q13.1-13.3(chr15:28540415-32446830)x1 copy number loss not provided [RCV002474549] Chr15:28540415..32446830 [GRCh37]
Chr15:15q13.1-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1 copy number loss not provided [RCV002474564] Chr15:23290787..28560269 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3 copy number gain not provided [RCV002474562] Chr15:22770422..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4 copy number gain not provided [RCV002473936] Chr15:22770422..28545601 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.8734C>T (p.Arg2912Trp) single nucleotide variant not provided [RCV003154110] Chr15:28186668 [GRCh38]
Chr15:28431814 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5315C>T (p.Pro1772Leu) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV003148170] Chr15:28228367 [GRCh38]
Chr15:28473513 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12937A>G (p.Thr4313Ala) single nucleotide variant not provided [RCV002308739] Chr15:28125059 [GRCh38]
Chr15:28370205 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23670891-28561671)x1 copy number loss not provided [RCV002472551] Chr15:23670891..28561671 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.3977T>C (p.Leu1326Pro) single nucleotide variant not provided [RCV002306425] Chr15:28236989 [GRCh38]
Chr15:28482135 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5989C>G (p.Leu1997Val) single nucleotide variant Inborn genetic diseases [RCV003102284]|not provided [RCV002306046] Chr15:28218528 [GRCh38]
Chr15:28463674 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5647G>A (p.Asp1883Asn) single nucleotide variant not provided [RCV002300699] Chr15:28222033 [GRCh38]
Chr15:28467179 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1954G>A (p.Glu652Lys) single nucleotide variant not provided [RCV002306136] Chr15:28263086 [GRCh38]
Chr15:28508232 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13139C>G (p.Pro4380Arg) single nucleotide variant not provided [RCV002462382] Chr15:28124086 [GRCh38]
Chr15:28369232 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8842G>T (p.Ala2948Ser) single nucleotide variant Inborn genetic diseases [RCV002571577]|not provided [RCV002510054] Chr15:28182496 [GRCh38]
Chr15:28427642 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3964A>G (p.Met1322Val) single nucleotide variant Inborn genetic diseases [RCV002752526]|not provided [RCV003443144] Chr15:28237002 [GRCh38]
Chr15:28482148 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.14495C>T (p.Thr4832Ile) single nucleotide variant Inborn genetic diseases [RCV002776812] Chr15:28111773 [GRCh38]
Chr15:28356919 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3509G>A (p.Arg1170Gln) single nucleotide variant Inborn genetic diseases [RCV002990800] Chr15:28245949 [GRCh38]
Chr15:28491095 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5342C>T (p.Pro1781Leu) single nucleotide variant Inborn genetic diseases [RCV002774257] Chr15:28228340 [GRCh38]
Chr15:28473486 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11998G>A (p.Val4000Met) single nucleotide variant not provided [RCV002461823] Chr15:28141449 [GRCh38]
Chr15:28386595 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7366G>A (p.Val2456Ile) single nucleotide variant Inborn genetic diseases [RCV002571558]|not provided [RCV002508451] Chr15:28202461 [GRCh38]
Chr15:28447607 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4681A>G (p.Lys1561Glu) single nucleotide variant Inborn genetic diseases [RCV002902631] Chr15:28230495 [GRCh38]
Chr15:28475641 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12601A>C (p.Lys4201Gln) single nucleotide variant Inborn genetic diseases [RCV002902013] Chr15:28130564 [GRCh38]
Chr15:28375710 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10768C>G (p.Leu3590Val) single nucleotide variant Inborn genetic diseases [RCV002778923] Chr15:28152809 [GRCh38]
Chr15:28397955 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.14395A>G (p.Ile4799Val) single nucleotide variant Inborn genetic diseases [RCV002906449]|not provided [RCV003223770] Chr15:28111873 [GRCh38]
Chr15:28357019 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_004667.6(HERC2):c.72+6G>C single nucleotide variant Inborn genetic diseases [RCV002683569] Chr15:28321356 [GRCh38]
Chr15:28566502 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3308T>C (p.Ile1103Thr) single nucleotide variant Inborn genetic diseases [RCV002688861] Chr15:28246825 [GRCh38]
Chr15:28491971 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2767A>G (p.Ile923Val) single nucleotide variant Inborn genetic diseases [RCV002779943] Chr15:28255976 [GRCh38]
Chr15:28501122 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3 copy number gain not provided [RCV002475662] Chr15:23632678..28545355 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.926C>T (p.Ala309Val) single nucleotide variant Inborn genetic diseases [RCV002749399] Chr15:28272372 [GRCh38]
Chr15:28517518 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7637C>T (p.Thr2546Met) single nucleotide variant Inborn genetic diseases [RCV002569419]|not provided [RCV002508737] Chr15:28201535 [GRCh38]
Chr15:28446681 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4100C>T (p.Pro1367Leu) single nucleotide variant Inborn genetic diseases [RCV002905873] Chr15:28234188 [GRCh38]
Chr15:28479334 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7771G>A (p.Val2591Ile) single nucleotide variant Inborn genetic diseases [RCV002841208] Chr15:28198715 [GRCh38]
Chr15:28443861 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1 copy number loss not provided [RCV002511814] Chr15:23684645..28566612 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1 copy number loss not provided [RCV002511813] Chr15:22833525..28544662 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.6670A>G (p.Met2224Val) single nucleotide variant Inborn genetic diseases [RCV002754539] Chr15:28213858 [GRCh38]
Chr15:28459004 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.10460C>T (p.Ser3487Leu) single nucleotide variant Inborn genetic diseases [RCV002907071] Chr15:28167781 [GRCh38]
Chr15:28412927 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3859C>G (p.Gln1287Glu) single nucleotide variant Inborn genetic diseases [RCV002772216] Chr15:28237107 [GRCh38]
Chr15:28482253 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1135C>G (p.Leu379Val) single nucleotide variant Inborn genetic diseases [RCV002753758] Chr15:28270817 [GRCh38]
Chr15:28515963 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2797_2798del (p.Leu933fs) deletion not provided [RCV002907884] Chr15:28255945..28255946 [GRCh38]
Chr15:28501091..28501092 [GRCh37]
Chr15:15q13.1
pathogenic
NM_004667.6(HERC2):c.3807C>A (p.Asp1269Glu) single nucleotide variant not provided [RCV002462560] Chr15:28238159 [GRCh38]
Chr15:28483305 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2296A>G (p.Ile766Val) single nucleotide variant not provided [RCV002462729] Chr15:28260797 [GRCh38]
Chr15:28505943 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6065G>A (p.Arg2022Gln) single nucleotide variant Inborn genetic diseases [RCV002969367] Chr15:28215766 [GRCh38]
Chr15:28460912 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23620192-28545459)x3 copy number gain not provided [RCV002475533] Chr15:23620192..28545459 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.5089C>G (p.Gln1697Glu) single nucleotide variant Inborn genetic diseases [RCV002977590] Chr15:28229491 [GRCh38]
Chr15:28474637 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5683A>G (p.Ile1895Val) single nucleotide variant Inborn genetic diseases [RCV002707652] Chr15:28220614 [GRCh38]
Chr15:28465760 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.217A>C (p.Lys73Gln) single nucleotide variant Inborn genetic diseases [RCV002998418] Chr15:28292993 [GRCh38]
Chr15:28538139 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4686G>C (p.Lys1562Asn) single nucleotide variant Inborn genetic diseases [RCV002849423] Chr15:28230490 [GRCh38]
Chr15:28475636 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10999G>A (p.Val3667Met) single nucleotide variant Inborn genetic diseases [RCV002869240] Chr15:28146246 [GRCh38]
Chr15:28391392 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6866T>A (p.Leu2289His) single nucleotide variant Inborn genetic diseases [RCV002692409] Chr15:28212504 [GRCh38]
Chr15:28457650 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11545-6C>T single nucleotide variant Inborn genetic diseases [RCV002844189] Chr15:28142399 [GRCh38]
Chr15:28387545 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6681G>C (p.Glu2227Asp) single nucleotide variant Inborn genetic diseases [RCV002821621] Chr15:28213847 [GRCh38]
Chr15:28458993 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8036T>C (p.Ile2679Thr) single nucleotide variant Inborn genetic diseases [RCV002784111] Chr15:28196545 [GRCh38]
Chr15:28441691 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2686G>A (p.Val896Met) single nucleotide variant Inborn genetic diseases [RCV002759204] Chr15:28256149 [GRCh38]
Chr15:28501295 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.596C>T (p.Ala199Val) single nucleotide variant Inborn genetic diseases [RCV002797880] Chr15:28274952 [GRCh38]
Chr15:28520098 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1015C>T (p.Pro339Ser) single nucleotide variant Inborn genetic diseases [RCV002926330]|not provided [RCV003395656] Chr15:28272283 [GRCh38]
Chr15:28517429 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.8506A>G (p.Ile2836Val) single nucleotide variant Inborn genetic diseases [RCV002783973]|not provided [RCV003151926] Chr15:28191190 [GRCh38]
Chr15:28436336 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10499C>T (p.Thr3500Met) single nucleotide variant Inborn genetic diseases [RCV002884185] Chr15:28167742 [GRCh38]
Chr15:28412888 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8035A>G (p.Ile2679Val) single nucleotide variant Inborn genetic diseases [RCV003000499]|not provided [RCV003151924] Chr15:28196546 [GRCh38]
Chr15:28441692 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_004667.6(HERC2):c.13883C>T (p.Ala4628Val) single nucleotide variant Inborn genetic diseases [RCV002691442]|not provided [RCV003313307] Chr15:28114642 [GRCh38]
Chr15:28359788 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3911A>G (p.Asp1304Gly) single nucleotide variant Inborn genetic diseases [RCV002844746] Chr15:28237055 [GRCh38]
Chr15:28482201 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12431G>A (p.Arg4144His) single nucleotide variant Inborn genetic diseases [RCV002739348] Chr15:28132239 [GRCh38]
Chr15:28377385 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12157G>T (p.Ala4053Ser) single nucleotide variant Inborn genetic diseases [RCV002911477] Chr15:28135551 [GRCh38]
Chr15:28380697 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1078A>G (p.Met360Val) single nucleotide variant Inborn genetic diseases [RCV002870519] Chr15:28272220 [GRCh38]
Chr15:28517366 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4789A>C (p.Ile1597Leu) single nucleotide variant Inborn genetic diseases [RCV002693200] Chr15:28230387 [GRCh38]
Chr15:28475533 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13157C>T (p.Thr4386Ile) single nucleotide variant Inborn genetic diseases [RCV002869714] Chr15:28124068 [GRCh38]
Chr15:28369214 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.271A>T (p.Ile91Leu) single nucleotide variant Inborn genetic diseases [RCV002924547] Chr15:28292939 [GRCh38]
Chr15:28538085 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7228G>A (p.Val2410Ile) single nucleotide variant not provided [RCV002509994] Chr15:28202599 [GRCh38]
Chr15:28447745 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11737G>A (p.Glu3913Lys) single nucleotide variant Inborn genetic diseases [RCV002692171] Chr15:28141810 [GRCh38]
Chr15:28386956 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5371A>G (p.Ser1791Gly) single nucleotide variant Inborn genetic diseases [RCV002737327] Chr15:28228311 [GRCh38]
Chr15:28473457 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11716C>G (p.Arg3906Gly) single nucleotide variant Inborn genetic diseases [RCV002694372] Chr15:28141831 [GRCh38]
Chr15:28386977 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6268G>T (p.Ala2090Ser) single nucleotide variant Inborn genetic diseases [RCV002712502] Chr15:28214745 [GRCh38]
Chr15:28459891 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1252C>T (p.His418Tyr) single nucleotide variant not provided [RCV003059851] Chr15:28270700 [GRCh38]
Chr15:28515846 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8416G>A (p.Glu2806Lys) single nucleotide variant Inborn genetic diseases [RCV002702004]|not provided [RCV003234228] Chr15:28191996 [GRCh38]
Chr15:28437142 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13163G>A (p.Arg4388Gln) single nucleotide variant Inborn genetic diseases [RCV002830334] Chr15:28124062 [GRCh38]
Chr15:28369208 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6855G>C (p.Gln2285His) single nucleotide variant Inborn genetic diseases [RCV002853970] Chr15:28212515 [GRCh38]
Chr15:28457661 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.961G>T (p.Ala321Ser) single nucleotide variant Inborn genetic diseases [RCV002986495] Chr15:28272337 [GRCh38]
Chr15:28517483 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7633G>A (p.Val2545Met) single nucleotide variant Inborn genetic diseases [RCV002640941] Chr15:28201539 [GRCh38]
Chr15:28446685 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2743G>C (p.Ala915Pro) single nucleotide variant Inborn genetic diseases [RCV002788537] Chr15:28256092 [GRCh38]
Chr15:28501238 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8944G>C (p.Val2982Leu) single nucleotide variant Inborn genetic diseases [RCV003004219] Chr15:28179217 [GRCh38]
Chr15:28424363 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5558C>T (p.Pro1853Leu) single nucleotide variant Inborn genetic diseases [RCV002787006] Chr15:28222122 [GRCh38]
Chr15:28467268 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8793_8795del (p.Glu2934del) deletion Inborn genetic diseases [RCV002804330] Chr15:28186607..28186609 [GRCh38]
Chr15:28431753..28431755 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8002G>T (p.Val2668Phe) single nucleotide variant Inborn genetic diseases [RCV002987121] Chr15:28198387 [GRCh38]
Chr15:28443533 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12225C>G (p.Asn4075Lys) single nucleotide variant Inborn genetic diseases [RCV002930274] Chr15:28135483 [GRCh38]
Chr15:28380629 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1826C>T (p.Ala609Val) single nucleotide variant Inborn genetic diseases [RCV002849904] Chr15:28265662 [GRCh38]
Chr15:28510808 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1591G>A (p.Asp531Asn) single nucleotide variant Inborn genetic diseases [RCV002641331] Chr15:28268472 [GRCh38]
Chr15:28513618 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10628C>T (p.Ala3543Val) single nucleotide variant Inborn genetic diseases [RCV002666513] Chr15:28163212 [GRCh38]
Chr15:28408358 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6672G>A (p.Met2224Ile) single nucleotide variant Inborn genetic diseases [RCV002698496] Chr15:28213856 [GRCh38]
Chr15:28459002 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12662+4C>T single nucleotide variant Inborn genetic diseases [RCV002873674]|not provided [RCV003395647] Chr15:28130499 [GRCh38]
Chr15:28375645 [GRCh37]
Chr15:15q13.1
likely benign|uncertain significance
NM_004667.6(HERC2):c.958G>A (p.Gly320Arg) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV003457208]|Inborn genetic diseases [RCV002744597] Chr15:28272340 [GRCh38]
Chr15:28517486 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7397T>C (p.Met2466Thr) single nucleotide variant Inborn genetic diseases [RCV002956454] Chr15:28202430 [GRCh38]
Chr15:28447576 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13695G>A (p.Met4565Ile) single nucleotide variant Inborn genetic diseases [RCV002743323] Chr15:28115456 [GRCh38]
Chr15:28360602 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5367G>T (p.Met1789Ile) single nucleotide variant Inborn genetic diseases [RCV002664777] Chr15:28228315 [GRCh38]
Chr15:28473461 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9448G>A (p.Gly3150Ser) single nucleotide variant Inborn genetic diseases [RCV002984254] Chr15:28176753 [GRCh38]
Chr15:28421899 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7721G>C (p.Gly2574Ala) single nucleotide variant Inborn genetic diseases [RCV002892406] Chr15:28198765 [GRCh38]
Chr15:28443911 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3757G>A (p.Ala1253Thr) single nucleotide variant Inborn genetic diseases [RCV002891608]|not provided [RCV003135250] Chr15:28238209 [GRCh38]
Chr15:28483355 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10315G>A (p.Ala3439Thr) single nucleotide variant Inborn genetic diseases [RCV002981808] Chr15:28168505 [GRCh38]
Chr15:28413651 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8361G>T (p.Lys2787Asn) single nucleotide variant Inborn genetic diseases [RCV002788272] Chr15:28192051 [GRCh38]
Chr15:28437197 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3221C>T (p.Thr1074Ile) single nucleotide variant Inborn genetic diseases [RCV002644957] Chr15:28248566 [GRCh38]
Chr15:28493712 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7742G>A (p.Arg2581Gln) single nucleotide variant Inborn genetic diseases [RCV002813335] Chr15:28198744 [GRCh38]
Chr15:28443890 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3577+6G>A single nucleotide variant Inborn genetic diseases [RCV002813506] Chr15:28245875 [GRCh38]
Chr15:28491021 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1420A>G (p.Thr474Ala) single nucleotide variant Inborn genetic diseases [RCV002939665] Chr15:28269274 [GRCh38]
Chr15:28514420 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6119G>C (p.Cys2040Ser) single nucleotide variant Inborn genetic diseases [RCV002965080] Chr15:28215712 [GRCh38]
Chr15:28460858 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12223A>C (p.Asn4075His) single nucleotide variant Inborn genetic diseases [RCV002965210] Chr15:28135485 [GRCh38]
Chr15:28380631 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.860A>T (p.His287Leu) single nucleotide variant Inborn genetic diseases [RCV002934178] Chr15:28272945 [GRCh38]
Chr15:28518091 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.170A>C (p.Glu57Ala) single nucleotide variant Inborn genetic diseases [RCV002669865] Chr15:28299419 [GRCh38]
Chr15:28544565 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11306G>C (p.Ser3769Thr) single nucleotide variant Inborn genetic diseases [RCV002648243] Chr15:28143985 [GRCh38]
Chr15:28389131 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6451C>T (p.Arg2151Cys) single nucleotide variant Inborn genetic diseases [RCV002878659] Chr15:28214180 [GRCh38]
Chr15:28459326 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.34G>T (p.Ala12Ser) single nucleotide variant Inborn genetic diseases [RCV002896995] Chr15:28321400 [GRCh38]
Chr15:28566546 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13696A>G (p.Ser4566Gly) single nucleotide variant Inborn genetic diseases [RCV002809030] Chr15:28115455 [GRCh38]
Chr15:28360601 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6377G>T (p.Arg2126Leu) single nucleotide variant Inborn genetic diseases [RCV002936888] Chr15:28214254 [GRCh38]
Chr15:28459400 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.6116T>C (p.Val2039Ala) single nucleotide variant Inborn genetic diseases [RCV002670033] Chr15:28215715 [GRCh38]
Chr15:28460861 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.562G>A (p.Gly188Ser) single nucleotide variant Inborn genetic diseases [RCV002702811] Chr15:28274986 [GRCh38]
Chr15:28520132 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.50A>C (p.Lys17Thr) single nucleotide variant Inborn genetic diseases [RCV003011005] Chr15:28321384 [GRCh38]
Chr15:28566530 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13711G>T (p.Asp4571Tyr) single nucleotide variant Inborn genetic diseases [RCV002835759] Chr15:28115440 [GRCh38]
Chr15:28360586 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.14020-4G>A single nucleotide variant Inborn genetic diseases [RCV002702727] Chr15:28113287 [GRCh38]
Chr15:28358433 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9037G>A (p.Val3013Met) single nucleotide variant Inborn genetic diseases [RCV002768929] Chr15:28179013 [GRCh38]
Chr15:28424159 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13007A>G (p.Asn4336Ser) single nucleotide variant Inborn genetic diseases [RCV002680160] Chr15:28124218 [GRCh38]
Chr15:28369364 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5710A>G (p.Ile1904Val) single nucleotide variant Inborn genetic diseases [RCV002655243]|not provided [RCV003319543] Chr15:28220587 [GRCh38]
Chr15:28465733 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1627G>A (p.Ala543Thr) single nucleotide variant not provided [RCV003131121] Chr15:28265946 [GRCh38]
Chr15:28511092 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13272+5C>T single nucleotide variant not provided [RCV003131122] Chr15:28121341 [GRCh38]
Chr15:28366487 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7048G>C (p.Glu2350Gln) single nucleotide variant Inborn genetic diseases [RCV002677259] Chr15:28211023 [GRCh38]
Chr15:28456169 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.188A>G (p.Asp63Gly) single nucleotide variant Inborn genetic diseases [RCV002722965] Chr15:28293022 [GRCh38]
Chr15:28538168 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7126C>A (p.Pro2376Thr) single nucleotide variant Inborn genetic diseases [RCV002677727] Chr15:28206326 [GRCh38]
Chr15:28451472 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.548G>T (p.Arg183Leu) single nucleotide variant Inborn genetic diseases [RCV002678147] Chr15:28275000 [GRCh38]
Chr15:28520146 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7834C>G (p.Gln2612Glu) single nucleotide variant Inborn genetic diseases [RCV002945055] Chr15:28198652 [GRCh38]
Chr15:28443798 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4427C>T (p.Ser1476Leu) single nucleotide variant not provided [RCV003154511] Chr15:28233486 [GRCh38]
Chr15:28478632 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9633G>A (p.Glu3211=) single nucleotide variant not provided [RCV003393694] Chr15:28176481 [GRCh38]
Chr15:28421627 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.7122G>A (p.Pro2374=) single nucleotide variant not provided [RCV003393702] Chr15:28206330 [GRCh38]
Chr15:28451476 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.6549C>T (p.Ser2183=) single nucleotide variant not provided [RCV003393705] Chr15:28214082 [GRCh38]
Chr15:28459228 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.6373C>A (p.Arg2125=) single nucleotide variant not provided [RCV003393707] Chr15:28214258 [GRCh38]
Chr15:28459404 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3577+4C>T single nucleotide variant not provided [RCV003393712] Chr15:28245877 [GRCh38]
Chr15:28491023 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.1674C>T (p.Cys558=) single nucleotide variant not provided [RCV003393718] Chr15:28265899 [GRCh38]
Chr15:28511045 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.8963C>T (p.Thr2988Ile) single nucleotide variant not provided [RCV003223853] Chr15:28179198 [GRCh38]
Chr15:28424344 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.992A>G (p.Gln331Arg) single nucleotide variant Inborn genetic diseases [RCV003218563] Chr15:28272306 [GRCh38]
Chr15:28517452 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2102A>C (p.Lys701Thr) single nucleotide variant Inborn genetic diseases [RCV003218634] Chr15:28262938 [GRCh38]
Chr15:28508084 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13919A>G (p.His4640Arg) single nucleotide variant not provided [RCV003222813] Chr15:28113673 [GRCh38]
Chr15:28358819 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3638C>T (p.Ala1213Val) single nucleotide variant Inborn genetic diseases [RCV003186211] Chr15:28238712 [GRCh38]
Chr15:28483858 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6917C>G (p.Ala2306Gly) single nucleotide variant Inborn genetic diseases [RCV003286961] Chr15:28212453 [GRCh38]
Chr15:28457599 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9682A>G (p.Thr3228Ala) single nucleotide variant Inborn genetic diseases [RCV003193513] Chr15:28176432 [GRCh38]
Chr15:28421578 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12037G>A (p.Ala4013Thr) single nucleotide variant Inborn genetic diseases [RCV003197624] Chr15:28135671 [GRCh38]
Chr15:28380817 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6424C>G (p.Leu2142Val) single nucleotide variant not provided [RCV003218872] Chr15:28214207 [GRCh38]
Chr15:28459353 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7100G>A (p.Gly2367Glu) single nucleotide variant Inborn genetic diseases [RCV003217192] Chr15:28206352 [GRCh38]
Chr15:28451498 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12568A>G (p.Lys4190Glu) single nucleotide variant Inborn genetic diseases [RCV003220284] Chr15:28132102 [GRCh38]
Chr15:28377248 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4841C>A (p.Thr1614Lys) single nucleotide variant Inborn genetic diseases [RCV003219348] Chr15:28229816 [GRCh38]
Chr15:28474962 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4111C>T (p.Pro1371Ser) single nucleotide variant Inborn genetic diseases [RCV003203329] Chr15:28234177 [GRCh38]
Chr15:28479323 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:23406271-28566579)x1 copy number loss not provided [RCV003222838] Chr15:23406271..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.6992C>T (p.Ala2331Val) single nucleotide variant Inborn genetic diseases [RCV003200151] Chr15:28211079 [GRCh38]
Chr15:28456225 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9113A>T (p.Gln3038Leu) single nucleotide variant Inborn genetic diseases [RCV003184095] Chr15:28178937 [GRCh38]
Chr15:28424083 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.1402C>T (p.Arg468Cys) single nucleotide variant Inborn genetic diseases [RCV003259343] Chr15:28269292 [GRCh38]
Chr15:28514438 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12014A>C (p.Lys4005Thr) single nucleotide variant Inborn genetic diseases [RCV003282800] Chr15:28141433 [GRCh38]
Chr15:28386579 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10193C>T (p.Ser3398Leu) single nucleotide variant Inborn genetic diseases [RCV003207042] Chr15:28169520 [GRCh38]
Chr15:28414666 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13907A>G (p.Asn4636Ser) single nucleotide variant Inborn genetic diseases [RCV003209786] Chr15:28114618 [GRCh38]
Chr15:28359764 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1029G>T (p.Arg343Ser) single nucleotide variant Inborn genetic diseases [RCV003178227] Chr15:28272269 [GRCh38]
Chr15:28517415 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13966G>A (p.Val4656Ile) single nucleotide variant not provided [RCV003135551] Chr15:28113626 [GRCh38]
Chr15:28358772 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4590A>G (p.Ile1530Met) single nucleotide variant not provided [RCV003135553] Chr15:28233231 [GRCh38]
Chr15:28478377 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.726C>G (p.Asp242Glu) single nucleotide variant not provided [RCV003135554] Chr15:28274365 [GRCh38]
Chr15:28519511 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3705A>G (p.Ile1235Met) single nucleotide variant Inborn genetic diseases [RCV003162197]|not provided [RCV003135555] Chr15:28238645 [GRCh38]
Chr15:28483791 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10430A>G (p.Asp3477Gly) single nucleotide variant not provided [RCV003135556] Chr15:28167811 [GRCh38]
Chr15:28412957 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4882G>C (p.Gly1628Arg) single nucleotide variant not provided [RCV003135557] Chr15:28229775 [GRCh38]
Chr15:28474921 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9657G>A (p.Ala3219=) single nucleotide variant not provided [RCV003135558] Chr15:28176457 [GRCh38]
Chr15:28421603 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2870A>G (p.Gln957Arg) single nucleotide variant not provided [RCV003135559] Chr15:28255873 [GRCh38]
Chr15:28501019 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.517T>G (p.Ser173Ala) single nucleotide variant not provided [RCV003135560] Chr15:28280093 [GRCh38]
Chr15:28525239 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8867C>T (p.Thr2956Met) single nucleotide variant not provided [RCV003135561] Chr15:28182471 [GRCh38]
Chr15:28427617 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9824C>T (p.Ser3275Leu) single nucleotide variant not provided [RCV003135562] Chr15:28175519 [GRCh38]
Chr15:28420665 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8451+8C>A single nucleotide variant not provided [RCV003135563] Chr15:28191953 [GRCh38]
Chr15:28437099 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1577G>A (p.Arg526Gln) single nucleotide variant Inborn genetic diseases [RCV003209927] Chr15:28268486 [GRCh38]
Chr15:28513632 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2465C>A (p.Pro822His) single nucleotide variant not provided [RCV003135550] Chr15:28257113 [GRCh38]
Chr15:28502259 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4191C>A (p.Asp1397Glu) single nucleotide variant not provided [RCV003135552] Chr15:28234097 [GRCh38]
Chr15:28479243 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5774A>G (p.Asp1925Gly) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV003142439] Chr15:28220523 [GRCh38]
Chr15:28465669 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3136G>A (p.Glu1046Lys) single nucleotide variant Inborn genetic diseases [RCV003258384] Chr15:28248651 [GRCh38]
Chr15:28493797 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10432G>A (p.Ala3478Thr) single nucleotide variant not provided [RCV003142572] Chr15:28167809 [GRCh38]
Chr15:28412955 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3143C>A (p.Ser1048Tyr) single nucleotide variant not provided [RCV003142571] Chr15:28248644 [GRCh38]
Chr15:28493790 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.548G>A (p.Arg183Gln) single nucleotide variant Inborn genetic diseases [RCV003190646] Chr15:28275000 [GRCh38]
Chr15:28520146 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6514C>T (p.Arg2172Cys) single nucleotide variant Inborn genetic diseases [RCV003190653] Chr15:28214117 [GRCh38]
Chr15:28459263 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7943A>C (p.Lys2648Thr) single nucleotide variant Inborn genetic diseases [RCV003193610] Chr15:28198446 [GRCh38]
Chr15:28443592 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5879C>T (p.Thr1960Ile) single nucleotide variant Inborn genetic diseases [RCV003204248] Chr15:28218638 [GRCh38]
Chr15:28463784 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.1175C>T (p.Thr392Met) single nucleotide variant not provided [RCV003319631] Chr15:28270777 [GRCh38]
Chr15:28515923 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11603C>T (p.Thr3868Met) single nucleotide variant not provided [RCV003319824] Chr15:28142335 [GRCh38]
Chr15:28387481 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2317-11T>G single nucleotide variant not provided [RCV003321387] Chr15:28257272 [GRCh38]
Chr15:28502418 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.238G>A (p.Glu80Lys) single nucleotide variant Inborn genetic diseases [RCV003308476] Chr15:28292972 [GRCh38]
Chr15:28538118 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.8284C>T (p.Arg2762Cys) single nucleotide variant Inborn genetic diseases [RCV003265932] Chr15:28192128 [GRCh38]
Chr15:28437274 [GRCh37]
Chr15:15q13.1
uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398) copy number gain 15q11q13 microduplication syndrome [RCV003319585] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2
pathogenic
NM_004667.6(HERC2):c.825C>T (p.Thr275=) single nucleotide variant not provided [RCV003326906] Chr15:28272980 [GRCh38]
Chr15:28518126 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.825C>A (p.Thr275=) single nucleotide variant not provided [RCV003326907] Chr15:28272980 [GRCh38]
Chr15:28518126 [GRCh37]
Chr15:15q13.1
likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4 copy number gain not provided [RCV003326925] Chr15:22742396..28567325 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1 copy number loss not provided [RCV003326926] Chr15:23605427..28566579 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.816G>A (p.Thr272=) single nucleotide variant not provided [RCV003326908] Chr15:28272989 [GRCh38]
Chr15:28518135 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.10229+5G>A single nucleotide variant not provided [RCV003328920] Chr15:28169479 [GRCh38]
Chr15:28414625 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6900G>T (p.Lys2300Asn) single nucleotide variant not provided [RCV003328982] Chr15:28212470 [GRCh38]
Chr15:28457616 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5884A>G (p.Met1962Val) single nucleotide variant not provided [RCV003329608] Chr15:28218633 [GRCh38]
Chr15:28463779 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.2742C>T (p.Cys914=) single nucleotide variant not provided [RCV003326905] Chr15:28256093 [GRCh38]
Chr15:28501239 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3205G>A (p.Glu1069Lys) single nucleotide variant not provided [RCV003328976] Chr15:28248582 [GRCh38]
Chr15:28493728 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.9583A>G (p.Ile3195Val) single nucleotide variant not provided [RCV003387569] Chr15:28176531 [GRCh38]
Chr15:28421677 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13705A>G (p.Ile4569Val) single nucleotide variant Inborn genetic diseases [RCV003358972] Chr15:28115446 [GRCh38]
Chr15:28360592 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12517G>A (p.Asp4173Asn) single nucleotide variant Inborn genetic diseases [RCV003378749] Chr15:28132153 [GRCh38]
Chr15:28377299 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4903C>G (p.Leu1635Val) single nucleotide variant Inborn genetic diseases [RCV003354310] Chr15:28229754 [GRCh38]
Chr15:28474900 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.4577A>G (p.Asn1526Ser) single nucleotide variant Inborn genetic diseases [RCV003352651] Chr15:28233244 [GRCh38]
Chr15:28478390 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3859C>A (p.Gln1287Lys) single nucleotide variant Inborn genetic diseases [RCV003351404] Chr15:28237107 [GRCh38]
Chr15:28482253 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.12072G>A (p.Ser4024=) single nucleotide variant not provided [RCV003393678] Chr15:28135636 [GRCh38]
Chr15:28380782 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.11835T>C (p.Thr3945=) single nucleotide variant not provided [RCV003393679] Chr15:28141612 [GRCh38]
Chr15:28386758 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.11646T>C (p.Arg3882=) single nucleotide variant not provided [RCV003393680] Chr15:28142292 [GRCh38]
Chr15:28387438 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.11238C>T (p.Asn3746=) single nucleotide variant not provided [RCV003393682] Chr15:28144138 [GRCh38]
Chr15:28389284 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.11159C>G (p.Ser3720Cys) single nucleotide variant not provided [RCV003393683] Chr15:28144217 [GRCh38]
Chr15:28389363 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11009-5C>T single nucleotide variant not provided [RCV003393684] Chr15:28144809 [GRCh38]
Chr15:28389955 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.10587G>A (p.Pro3529=) single nucleotide variant not provided [RCV003393687] Chr15:28163253 [GRCh38]
Chr15:28408399 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.8970A>G (p.Ser2990=) single nucleotide variant not provided [RCV003393696] Chr15:28179191 [GRCh38]
Chr15:28424337 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.8198A>T (p.Glu2733Val) single nucleotide variant not provided [RCV003393700] Chr15:28196277 [GRCh38]
Chr15:28441423 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7164C>T (p.Ala2388=) single nucleotide variant not provided [RCV003393701] Chr15:28206288 [GRCh38]
Chr15:28451434 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.4689A>G (p.Pro1563=) single nucleotide variant not provided [RCV003393711] Chr15:28230487 [GRCh38]
Chr15:28475633 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.2487C>T (p.Ala829=) single nucleotide variant not provided [RCV003393715] Chr15:28257091 [GRCh38]
Chr15:28502237 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.1932C>T (p.Gly644=) single nucleotide variant not provided [RCV003393717] Chr15:28263108 [GRCh38]
Chr15:28508254 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.1074C>T (p.Gly358=) single nucleotide variant not provided [RCV003393723] Chr15:28272224 [GRCh38]
Chr15:28517370 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.1068C>T (p.Ser356=) single nucleotide variant not provided [RCV003393724] Chr15:28272230 [GRCh38]
Chr15:28517376 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.11128A>C (p.Met3710Leu) single nucleotide variant Inborn genetic diseases [RCV003383102] Chr15:28144685 [GRCh38]
Chr15:28389831 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.5825C>T (p.Ser1942Leu) single nucleotide variant Inborn genetic diseases [RCV003347515] Chr15:28220472 [GRCh38]
Chr15:28465618 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3602G>A (p.Cys1201Tyr) single nucleotide variant Inborn genetic diseases [RCV003367181] Chr15:28238748 [GRCh38]
Chr15:28483894 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6729C>T (p.Thr2243=) single nucleotide variant not provided [RCV003456888] Chr15:28213799 [GRCh38]
Chr15:28458945 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.7745C>T (p.Ala2582Val) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV003457217] Chr15:28198741 [GRCh38]
Chr15:28443887 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.14167G>A (p.Val4723Ile) single nucleotide variant Inborn genetic diseases [RCV003348533] Chr15:28113136 [GRCh38]
Chr15:28358282 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7516T>A (p.Ser2506Thr) single nucleotide variant Inborn genetic diseases [RCV003346981] Chr15:28202214 [GRCh38]
Chr15:28447360 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.7568A>G (p.Tyr2523Cys) single nucleotide variant Inborn genetic diseases [RCV003349571] Chr15:28202162 [GRCh38]
Chr15:28447308 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3948C>T (p.His1316=) single nucleotide variant not provided [RCV002211290] Chr15:28237018 [GRCh38]
Chr15:28482164 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.1185T>A (p.Val395=) single nucleotide variant not provided [RCV003393722] Chr15:28270767 [GRCh38]
Chr15:28515913 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.323-6T>C single nucleotide variant not provided [RCV003393726] Chr15:28280293 [GRCh38]
Chr15:28525439 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.1782G>A (p.Pro594=) single nucleotide variant not provided [RCV003390472] Chr15:28265706 [GRCh38]
Chr15:28510852 [GRCh37]
Chr15:15q13.1
likely benign
GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3 copy number gain not provided [RCV003485056] Chr15:22770422..36556562 [GRCh37]
Chr15:15q11.2-14
pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3 copy number gain not provided [RCV003485057] Chr15:22770422..32915593 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3 copy number gain not provided [RCV003485058] Chr15:22770422..29013164 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28915864)x1 copy number loss not provided [RCV003483220] Chr15:23615769..28915864 [GRCh37]
Chr15:15q11.2-13.1
pathogenic
NM_004667.6(HERC2):c.5355C>G (p.Phe1785Leu) single nucleotide variant Developmental delay with autism spectrum disorder and gait instability [RCV003445317] Chr15:28228327 [GRCh38]
Chr15:28473473 [GRCh37]
Chr15:15q13.1
uncertain significance
Single allele duplication not provided [RCV003448679] Chr15:22750407..32516333 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NM_004667.6(HERC2):c.10998C>T (p.Ser3666=) single nucleotide variant not provided [RCV003393685] Chr15:28146247 [GRCh38]
Chr15:28391393 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9384C>T (p.Tyr3128=) single nucleotide variant not provided [RCV003393695] Chr15:28176998 [GRCh38]
Chr15:28422144 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.8298G>A (p.Gln2766=) single nucleotide variant not provided [RCV003393699] Chr15:28192114 [GRCh38]
Chr15:28437260 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.6795C>T (p.Ala2265=) single nucleotide variant not provided [RCV003393703] Chr15:28212575 [GRCh38]
Chr15:28457721 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.6540A>G (p.Gly2180=) single nucleotide variant not provided [RCV003393706] Chr15:28214091 [GRCh38]
Chr15:28459237 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.1205G>A (p.Arg402His) single nucleotide variant not provided [RCV003393721] Chr15:28270747 [GRCh38]
Chr15:28515893 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.3757G>T (p.Ala1253Ser) single nucleotide variant not provided [RCV003442480] Chr15:28238209 [GRCh38]
Chr15:28483355 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10395A>G (p.Pro3465=) single nucleotide variant not provided [RCV003393689] Chr15:28168425 [GRCh38]
Chr15:28413571 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.6246A>G (p.Pro2082=) single nucleotide variant not provided [RCV003393708] Chr15:28214767 [GRCh38]
Chr15:28459913 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.2048A>G (p.Lys683Arg) single nucleotide variant not provided [RCV003393716] Chr15:28262992 [GRCh38]
Chr15:28508138 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.10295C>T (p.Ser3432Phe) single nucleotide variant not provided [RCV003443673] Chr15:28168525 [GRCh38]
Chr15:28413671 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13766A>G (p.Asn4589Ser) single nucleotide variant not provided [RCV003443653] Chr15:28114759 [GRCh38]
Chr15:28359905 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13229G>A (p.Arg4410His) single nucleotide variant not provided [RCV003393676] Chr15:28121389 [GRCh38]
Chr15:28366535 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.11640C>G (p.Ala3880=) single nucleotide variant not provided [RCV003393681] Chr15:28142298 [GRCh38]
Chr15:28387444 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.9858C>T (p.His3286=) single nucleotide variant not provided [RCV003393693] Chr15:28174594 [GRCh38]
Chr15:28419740 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.5961C>T (p.Ser1987=) single nucleotide variant not provided [RCV003393710] Chr15:28218556 [GRCh38]
Chr15:28463702 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.1626C>T (p.Ser542=) single nucleotide variant not provided [RCV003393719] Chr15:28265947 [GRCh38]
Chr15:28511093 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.1413C>T (p.Arg471=) single nucleotide variant not provided [RCV003393720] Chr15:28269281 [GRCh38]
Chr15:28514427 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.987C>T (p.Ser329=) single nucleotide variant not provided [RCV003393725] Chr15:28272311 [GRCh38]
Chr15:28517457 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3349C>T (p.His1117Tyr) single nucleotide variant not provided [RCV003443652] Chr15:28246784 [GRCh38]
Chr15:28491930 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6110C>T (p.Pro2037Leu) single nucleotide variant HERC2-related condition [RCV003410754] Chr15:28215721 [GRCh38]
Chr15:28460867 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.13638C>T (p.Thr4546=) single nucleotide variant not provided [RCV003390468] Chr15:28115513 [GRCh38]
Chr15:28360659 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.13194G>A (p.Ala4398=) single nucleotide variant not provided [RCV003390469] Chr15:28121424 [GRCh38]
Chr15:28366570 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.10530A>G (p.Ala3510=) single nucleotide variant not provided [RCV003390470] Chr15:28167711 [GRCh38]
Chr15:28412857 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.2919A>G (p.Glu973=) single nucleotide variant not provided [RCV003390471] Chr15:28254471 [GRCh38]
Chr15:28499617 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.12378C>T (p.Ser4126=) single nucleotide variant not provided [RCV003393677] Chr15:28132683 [GRCh38]
Chr15:28377829 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.10968A>C (p.Thr3656=) single nucleotide variant not provided [RCV003393686] Chr15:28146277 [GRCh38]
Chr15:28391423 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.8338G>A (p.Asp2780Asn) single nucleotide variant not provided [RCV003393698] Chr15:28192074 [GRCh38]
Chr15:28437220 [GRCh37]
Chr15:15q13.1
uncertain significance
NM_004667.6(HERC2):c.6138G>T (p.Pro2046=) single nucleotide variant not provided [RCV003393709] Chr15:28215693 [GRCh38]
Chr15:28460839 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.14058G>A (p.Lys4686=) single nucleotide variant not provided [RCV003393675] Chr15:28113245 [GRCh38]
Chr15:28358391 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.10458G>A (p.Pro3486=) single nucleotide variant not provided [RCV003393688] Chr15:28167783 [GRCh38]
Chr15:28412929 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.10242C>G (p.Val3414=) single nucleotide variant not provided [RCV003393690] Chr15:28168578 [GRCh38]
Chr15:28413724 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.10239T>A (p.Val3413=) single nucleotide variant not provided [RCV003393691] Chr15:28168581 [GRCh38]
Chr15:28413727 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.10236T>C (p.Ala3412=) single nucleotide variant not provided [RCV003393692] Chr15:28168584 [GRCh38]
Chr15:28413730 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.8868G>A (p.Thr2956=) single nucleotide variant not provided [RCV003393697] Chr15:28182470 [GRCh38]
Chr15:28427616 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.6585C>T (p.Ser2195=) single nucleotide variant not provided [RCV003393704] Chr15:28213943 [GRCh38]
Chr15:28459089 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.3390T>C (p.Thr1130=) single nucleotide variant not provided [RCV003393713] Chr15:28246743 [GRCh38]
Chr15:28491889 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.2643C>T (p.Thr881=) single nucleotide variant not provided [RCV003393714] Chr15:28256192 [GRCh38]
Chr15:28501338 [GRCh37]
Chr15:15q13.1
likely benign
NM_004667.6(HERC2):c.7013A>G (p.Lys2338Arg) single nucleotide variant Inborn genetic diseases [RCV003379574] Chr15:28211058 [GRCh38]
Chr15:28456204 [GRCh37]
Chr15:15q13.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3159
Count of miRNA genes:1173
Interacting mature miRNAs:1510
Transcripts:ENST00000261609, ENST00000562136, ENST00000563670, ENST00000563945, ENST00000564383, ENST00000564519, ENST00000564734, ENST00000566635, ENST00000567869, ENST00000568206, ENST00000569335, ENST00000569772
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
SHGC-104948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,437,082 - 28,437,363UniSTSGRCh37
Build 361526,110,677 - 26,110,958RGDNCBI36
Celera156,594,322 - 6,594,603RGD
Cytogenetic Map15q13UniSTS
HuRef156,563,237 - 6,563,518UniSTS
TNG Radiation Hybrid Map153195.0UniSTS
SHGC-148873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,373,658 - 28,373,963UniSTSGRCh37
Build 361526,047,253 - 26,047,558RGDNCBI36
Celera156,530,715 - 6,531,020RGD
Cytogenetic Map15q13UniSTS
HuRef156,499,907 - 6,500,212UniSTS
TNG Radiation Hybrid Map153158.0UniSTS
PMC311424P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,389,031 - 28,389,882UniSTSGRCh37
Build 361526,062,626 - 26,063,477RGDNCBI36
Celera156,545,973 - 6,546,824RGD
HuRef156,515,157 - 6,516,008UniSTS
PMC311424P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,356,366 - 28,356,536UniSTSGRCh37
Build 361526,029,961 - 26,030,131RGDNCBI36
Celera156,513,602 - 6,513,772RGD
Cytogenetic Map15q13UniSTS
HuRef156,482,732 - 6,482,902UniSTS
HERC2_8875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,356,048 - 28,356,943UniSTSGRCh37
Build 361526,029,643 - 26,030,538RGDNCBI36
Celera156,513,284 - 6,514,180RGD
HuRef156,482,414 - 6,483,310UniSTS
RH11271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,356,290 - 28,356,389UniSTSGRCh37
Build 361526,029,885 - 26,029,984RGDNCBI36
Celera156,513,526 - 6,513,625RGD
Cytogenetic Map15q13UniSTS
HuRef156,482,656 - 6,482,755UniSTS
GeneMap99-GB4 RH Map1556.61UniSTS
D15S737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,422,823 - 28,423,072UniSTSGRCh37
Build 361526,096,418 - 26,096,667RGDNCBI36
Celera156,580,027 - 6,580,276RGD
Cytogenetic Map15q13UniSTS
HuRef156,548,946 - 6,549,195UniSTS
Whitehead-YAC Contig Map15 UniSTS
RH48411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371528,356,843 - 28,357,015UniSTSGRCh37
Build 361526,030,438 - 26,030,610RGDNCBI36
Celera156,514,080 - 6,514,252RGD
Cytogenetic Map15q13UniSTS
HuRef156,483,210 - 6,483,382UniSTS
GeneMap99-GB4 RH Map1556.71UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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 1970 1560 1198 125 896 44 3758 1568 2599 152 1294 1479 95 858 2458 1
Low 462 1336 525 497 964 420 597 625 1109 266 154 129 76 346 330 3
Below cutoff 88 88

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC091304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC126332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF071172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH012472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH012473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI820017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AMYH02030122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU100235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV692570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW504156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW897649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC148318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF332492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ059143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX440995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX451582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD619122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF135750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN302846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX784863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA868501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ570449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000261609   ⟹   ENSP00000261609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,111,040 - 28,322,179 (-)Ensembl
RefSeq Acc Id: ENST00000562136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,111,762 - 28,113,717 (-)Ensembl
RefSeq Acc Id: ENST00000563670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,272,044 - 28,273,168 (-)Ensembl
RefSeq Acc Id: ENST00000563945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,320,122 - 28,322,119 (-)Ensembl
RefSeq Acc Id: ENST00000564383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,280,034 - 28,299,483 (-)Ensembl
RefSeq Acc Id: ENST00000564519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,141,739 - 28,142,452 (-)Ensembl
RefSeq Acc Id: ENST00000564734   ⟹   ENSP00000456237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,254,488 - 28,322,149 (-)Ensembl
RefSeq Acc Id: ENST00000566635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,111,279 - 28,117,551 (-)Ensembl
RefSeq Acc Id: ENST00000567869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,190,201 - 28,203,936 (-)Ensembl
RefSeq Acc Id: ENST00000568206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,115,281 - 28,118,421 (-)Ensembl
RefSeq Acc Id: ENST00000569335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,222,148 - 28,229,516 (-)Ensembl
RefSeq Acc Id: ENST00000569772   ⟹   ENSP00000457745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,152,759 - 28,174,423 (-)Ensembl
RefSeq Acc Id: ENST00000649023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,130,300 - 28,135,556 (-)Ensembl
RefSeq Acc Id: ENST00000650509   ⟹   ENSP00000496936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1528,111,079 - 28,192,122 (-)Ensembl
RefSeq Acc Id: NM_004667   ⟹   NP_004658
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,111,040 - 28,322,179 (-)NCBI
GRCh371528,356,183 - 28,567,313 (-)NCBI
Build 361526,029,781 - 26,240,890 (-)NCBI Archive
HuRef156,482,549 - 6,693,549 (-)NCBI
CHM1_11528,305,169 - 28,516,258 (-)NCBI
T2T-CHM13v2.01525,853,561 - 26,064,943 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005268276   ⟹   XP_005268333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,111,040 - 28,317,849 (-)NCBI
GRCh371528,356,183 - 28,567,313 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720726   ⟹   XP_006720789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,111,040 - 28,322,179 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720727   ⟹   XP_006720790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,111,040 - 28,322,179 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022695   ⟹   XP_016878184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,111,040 - 28,312,874 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022696   ⟹   XP_016878185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,111,040 - 28,299,762 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022697   ⟹   XP_016878186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,111,040 - 28,213,729 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022698   ⟹   XP_016878187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,111,040 - 28,212,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047433206   ⟹   XP_047289162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,111,040 - 28,299,804 (-)NCBI
RefSeq Acc Id: XM_047433207   ⟹   XP_047289163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,111,040 - 28,280,223 (-)NCBI
RefSeq Acc Id: XM_047433208   ⟹   XP_047289164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,177,018 - 28,322,179 (-)NCBI
RefSeq Acc Id: XM_047433209   ⟹   XP_047289165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,196,215 - 28,322,179 (-)NCBI
RefSeq Acc Id: XM_054379045   ⟹   XP_054235020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,853,561 - 26,064,943 (-)NCBI
RefSeq Acc Id: XM_054379046   ⟹   XP_054235021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,853,561 - 26,042,841 (-)NCBI
RefSeq Acc Id: XM_054379047   ⟹   XP_054235022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,853,561 - 26,055,638 (-)NCBI
RefSeq Acc Id: XM_054379048   ⟹   XP_054235023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,853,561 - 26,042,841 (-)NCBI
RefSeq Acc Id: XM_054379049   ⟹   XP_054235024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,853,561 - 26,061,110 (-)NCBI
RefSeq Acc Id: XM_054379050   ⟹   XP_054235025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,853,561 - 26,064,943 (-)NCBI
RefSeq Acc Id: XM_054379051   ⟹   XP_054235026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,853,561 - 26,022,994 (-)NCBI
RefSeq Acc Id: XM_054379052   ⟹   XP_054235027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,919,516 - 26,064,943 (-)NCBI
RefSeq Acc Id: XM_054379053   ⟹   XP_054235028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,938,950 - 26,064,943 (-)NCBI
RefSeq Acc Id: XM_054379054   ⟹   XP_054235029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,853,561 - 25,956,491 (-)NCBI
RefSeq Acc Id: XM_054379055   ⟹   XP_054235030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01525,853,561 - 25,955,699 (-)NCBI
Protein Sequences
Protein RefSeqs NP_004658 (Get FASTA)   NCBI Sequence Viewer  
  XP_005268333 (Get FASTA)   NCBI Sequence Viewer  
  XP_006720789 (Get FASTA)   NCBI Sequence Viewer  
  XP_006720790 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878184 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878185 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878186 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878187 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289162 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289163 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289164 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289165 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187823 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187824 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187825 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187826 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187827 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187828 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187829 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187830 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187831 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187832 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187833 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235020 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235021 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235022 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235023 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235024 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235025 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235026 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235027 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235028 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235029 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235030 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD08657 (Get FASTA)   NCBI Sequence Viewer  
  AAI48319 (Get FASTA)   NCBI Sequence Viewer  
  AAO27473 (Get FASTA)   NCBI Sequence Viewer  
  AAO27474 (Get FASTA)   NCBI Sequence Viewer  
  AAO27477 (Get FASTA)   NCBI Sequence Viewer  
  AAO27481 (Get FASTA)   NCBI Sequence Viewer  
  AAO27484 (Get FASTA)   NCBI Sequence Viewer  
  CAD38880 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43270 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43271 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000261609
  ENSP00000261609.8
  ENSP00000456237.1
  ENSP00000457745.1
  ENSP00000477508.1
  ENSP00000484177.1
  ENSP00000487606.1
  ENSP00000488506.1
  ENSP00000488879.1
  ENSP00000496936.1
GenBank Protein O95714 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004658   ⟸   NM_004667
- UniProtKB: Q86YZ0 (UniProtKB/Swiss-Prot),   Q86YY9 (UniProtKB/Swiss-Prot),   Q86YY8 (UniProtKB/Swiss-Prot),   Q86YY7 (UniProtKB/Swiss-Prot),   Q86YY6 (UniProtKB/Swiss-Prot),   Q86YY5 (UniProtKB/Swiss-Prot),   Q86YY4 (UniProtKB/Swiss-Prot),   Q86YY3 (UniProtKB/Swiss-Prot),   Q86SV9 (UniProtKB/Swiss-Prot),   Q86SV8 (UniProtKB/Swiss-Prot),   Q86SV7 (UniProtKB/Swiss-Prot),   Q86YZ1 (UniProtKB/Swiss-Prot),   O95714 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005268333   ⟸   XM_005268276
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006720790   ⟸   XM_006720727
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006720789   ⟸   XM_006720726
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016878184   ⟸   XM_017022695
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016878185   ⟸   XM_017022696
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016878186   ⟸   XM_017022697
- Peptide Label: isoform X8
- UniProtKB: A0A0J9YVP0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878187   ⟸   XM_017022698
- Peptide Label: isoform X8
- UniProtKB: A0A0J9YVP0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000457745   ⟸   ENST00000569772
RefSeq Acc Id: ENSP00000496936   ⟸   ENST00000650509
RefSeq Acc Id: ENSP00000456237   ⟸   ENST00000564734
RefSeq Acc Id: ENSP00000261609   ⟸   ENST00000261609
RefSeq Acc Id: XP_047289162   ⟸   XM_047433206
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047289163   ⟸   XM_047433207
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047289164   ⟸   XM_047433208
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047289165   ⟸   XM_047433209
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054235025   ⟸   XM_054379050
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054235020   ⟸   XM_054379045
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235024   ⟸   XM_054379049
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054235022   ⟸   XM_054379047
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054235021   ⟸   XM_054379046
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054235023   ⟸   XM_054379048
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054235026   ⟸   XM_054379051
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054235029   ⟸   XM_054379054
- Peptide Label: isoform X8
- UniProtKB: A0A0J9YVP0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235030   ⟸   XM_054379055
- Peptide Label: isoform X8
- UniProtKB: A0A0J9YVP0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235027   ⟸   XM_054379052
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054235028   ⟸   XM_054379053
- Peptide Label: isoform X7
Protein Domains
Cytochrome b5 heme-binding   DOC   HECT   MIB/HERC2   ZZ-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95714-F1-model_v2 AlphaFold O95714 1-1400 view protein structure
AF-O95714-F2-model_v2 AlphaFold O95714 201-1600 view protein structure
AF-O95714-F3-model_v2 AlphaFold O95714 401-1800 view protein structure
AF-O95714-F4-model_v2 AlphaFold O95714 601-2000 view protein structure
AF-O95714-F5-model_v2 AlphaFold O95714 801-2200 view protein structure
AF-O95714-F6-model_v2 AlphaFold O95714 1001-2400 view protein structure
AF-O95714-F7-model_v2 AlphaFold O95714 1201-2600 view protein structure
AF-O95714-F8-model_v2 AlphaFold O95714 1401-2800 view protein structure
AF-O95714-F9-model_v2 AlphaFold O95714 1601-3000 view protein structure
AF-O95714-F10-model_v2 AlphaFold O95714 1801-3200 view protein structure
AF-O95714-F11-model_v2 AlphaFold O95714 2001-3400 view protein structure
AF-O95714-F12-model_v2 AlphaFold O95714 2201-3600 view protein structure
AF-O95714-F13-model_v2 AlphaFold O95714 2401-3800 view protein structure
AF-O95714-F14-model_v2 AlphaFold O95714 2601-4000 view protein structure
AF-O95714-F15-model_v2 AlphaFold O95714 2801-4200 view protein structure
AF-O95714-F16-model_v2 AlphaFold O95714 3001-4400 view protein structure
AF-O95714-F17-model_v2 AlphaFold O95714 3201-4600 view protein structure
AF-O95714-F18-model_v2 AlphaFold O95714 3401-4800 view protein structure
AF-O95714-F19-model_v2 AlphaFold O95714 3601-4834 view protein structure

Promoters
RGD ID:7228879
Promoter ID:EPDNEW_H20185
Type:initiation region
Name:HERC2_1
Description:HECT and RLD domain containing E3 ubiquitin protein ligase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381528,322,179 - 28,322,239EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4868 AgrOrtholog
COSMIC HERC2 COSMIC
Ensembl Genes ENSG00000128731 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000276802 UniProtKB/TrEMBL
  ENSG00000277278 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261609 ENTREZGENE
  ENST00000261609.13 UniProtKB/Swiss-Prot
  ENST00000564734.5 UniProtKB/TrEMBL
  ENST00000569772.1 UniProtKB/TrEMBL
  ENST00000612410.1 UniProtKB/TrEMBL
  ENST00000619734.4 UniProtKB/TrEMBL
  ENST00000620983.1 UniProtKB/TrEMBL
  ENST00000632916.1 UniProtKB/TrEMBL
  ENST00000633685.1 UniProtKB/TrEMBL
  ENST00000650509.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.30.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.120.10 UniProtKB/Swiss-Prot
  3.30.60.90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-binding domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hect, E3 ligase catalytic domain UniProtKB/Swiss-Prot
  Hect, E3 ligase catalytic domain UniProtKB/Swiss-Prot
  Hect, E3 ligase catalytic domain UniProtKB/TrEMBL
  Hect, E3 ligase catalytic domain UniProtKB/TrEMBL
  Hect, E3 ligase catalytic domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot
GTEx ENSG00000128731 GTEx
  ENSG00000276802 GTEx
  ENSG00000277278 GTEx
HGNC ID HGNC:4868 ENTREZGENE
Human Proteome Map HERC2 Human Proteome Map
InterPro APC_su10/DOC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Beta-propeller_rpt_TECPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_B5-like_heme/steroid-bd UniProtKB/Swiss-Prot
  Cyt_B5-like_heme/steroid_sf UniProtKB/Swiss-Prot
  Galactose-bd-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HECT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hect_E3_ubiquitin_ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HECTD3 UniProtKB/TrEMBL
  HERC2_APC10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mib_Herc2 UniProtKB/Swiss-Prot
  Mib_Herc2_sf UniProtKB/Swiss-Prot
  RCC1/BLIP-II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reg_chr_condens UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rib_L2_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_ZZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_ZZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZZ_HERC2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8924 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8924 ENTREZGENE
OMIM 605837 OMIM
PANTHER BTB/POZ DOMAIN-CONTAINING PROTEIN 1 UniProtKB/TrEMBL
  BTK-BINDING PROTEIN-RELATED UniProtKB/TrEMBL
  E3 UBIQUITIN-PROTEIN LIGASE HECTD3 UniProtKB/TrEMBL
  E3 UBIQUITIN-PROTEIN LIGASE HECTD3 UniProtKB/TrEMBL
  E3 UBIQUITIN-PROTEIN LIGASE HERC2 UniProtKB/TrEMBL
  RCC1 REPEAT-CONTAINING PROTEIN DDB_G0284033 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  REGULATOR OF CHROMOSOME CONDENSATION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ANAPC10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cul7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt-b5 UniProtKB/Swiss-Prot
  HECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIB_HERC2 UniProtKB/Swiss-Prot
  PF00569 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29243 PharmGKB
PRINTS RCCNDNSATION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYTOCHROME_B5_2 UniProtKB/Swiss-Prot
  DOC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIB_HERC2 UniProtKB/Swiss-Prot
  RCC1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_ZZ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_ZZ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART APC10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt-b5 UniProtKB/Swiss-Prot
  HECTc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TECPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_ZZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF159034 UniProtKB/Swiss-Prot
  SSF49785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50985 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55856 UniProtKB/Swiss-Prot
  SSF56204 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tudor/PWWP/MBT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JLM1_HUMAN UniProtKB/TrEMBL
  A0A0G2JPS8_HUMAN UniProtKB/TrEMBL
  A0A0J9YVP0 ENTREZGENE, UniProtKB/TrEMBL
  A0A0J9YXQ8_HUMAN UniProtKB/TrEMBL
  A0A3B3IRP6_HUMAN UniProtKB/TrEMBL
  A8KAQ8_HUMAN UniProtKB/TrEMBL
  H3BRG9_HUMAN UniProtKB/TrEMBL
  H3BUQ1_HUMAN UniProtKB/TrEMBL
  HERC2_HUMAN UniProtKB/Swiss-Prot
  L8E7P5_HUMAN UniProtKB/TrEMBL
  L8E987_HUMAN UniProtKB/TrEMBL
  O95714 ENTREZGENE
  Q86SV7 ENTREZGENE
  Q86SV8 ENTREZGENE
  Q86SV9 ENTREZGENE
  Q86YY3 ENTREZGENE
  Q86YY4 ENTREZGENE
  Q86YY5 ENTREZGENE
  Q86YY6 ENTREZGENE
  Q86YY7 ENTREZGENE
  Q86YY8 ENTREZGENE
  Q86YY9 ENTREZGENE
  Q86YZ0 ENTREZGENE
  Q86YZ1 ENTREZGENE
UniProt Secondary Q86SV7 UniProtKB/Swiss-Prot
  Q86SV8 UniProtKB/Swiss-Prot
  Q86SV9 UniProtKB/Swiss-Prot
  Q86YY3 UniProtKB/Swiss-Prot
  Q86YY4 UniProtKB/Swiss-Prot
  Q86YY5 UniProtKB/Swiss-Prot
  Q86YY6 UniProtKB/Swiss-Prot
  Q86YY7 UniProtKB/Swiss-Prot
  Q86YY8 UniProtKB/Swiss-Prot
  Q86YY9 UniProtKB/Swiss-Prot
  Q86YZ0 UniProtKB/Swiss-Prot
  Q86YZ1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-03-01 HERC2  HECT and RLD domain containing E3 ubiquitin protein ligase 2  HERC2  hect domain and RLD 2  Symbol and/or name change 5135510 APPROVED