NSD1 (nuclear receptor binding SET domain protein 1) - Rat Genome Database

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Gene: NSD1 (nuclear receptor binding SET domain protein 1) Homo sapiens
Analyze
Symbol: NSD1
Name: nuclear receptor binding SET domain protein 1
RGD ID: 1317121
HGNC Page HGNC:14234
Description: Enables several functions, including histone H3K36 methyltransferase activity; nuclear androgen receptor binding activity; and zinc ion binding activity. Involved in positive regulation of DNA-templated transcription. Acts upstream of or within regulation of peptidyl-serine phosphorylation. Predicted to be located in nucleoplasm. Predicted to be active in chromatin and nucleus. Implicated in Sotos syndrome; Sotos syndrome 1; acute myeloid leukemia; microcephaly; and neuroblastoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: androgen receptor coactivator 267 kDa protein; androgen receptor-associated coregulator 267; androgen receptor-associated protein of 267 kDa; ARA267; DKFZp666C163; FLJ10684; FLJ22263; FLJ44628; H3-K36-HMTase; H4-K20-HMTase; histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific; histone-lysine N-methyltransferase, H3 lysine-36 specific; KMT3B; lysine N-methyltransferase 3B; NR-binding SET domain-containing protein; nuclear receptor SET domain-containing protein 1; nuclear receptor-binding SET domain-containing protein 1; SOTOS; SOTOS1; STO; truncated nuclear receptor binding SET domain protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385177,131,798 - 177,300,213 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5177,131,830 - 177,300,213 (+)Ensemblhg38GRCh38
GRCh375176,558,799 - 176,727,214 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,493,532 - 176,655,369 (+)NCBIBuild 36Build 36hg18NCBI36
Build 345176,494,690 - 176,655,367NCBI
Celera5171,774,148 - 171,941,231 (-)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5171,481,615 - 171,647,948 (+)NCBIHuRef
CHM1_15175,992,834 - 176,160,257 (+)NCBICHM1_1
T2T-CHM13v2.05177,675,008 - 177,843,448 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IBA)
chromosome  (IEA)
nucleoplasm  (IEA,TAS)
nucleus  (IBA,IEA)

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

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal jaw morphology  (IAGP)
Abnormal mandible morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormally low-pitched voice  (IAGP)
Absent speech  (IAGP)
Accelerated skeletal maturation  (IAGP)
Acute lymphoblastic leukemia  (IAGP)
Acute myeloid leukemia  (IAGP)
Advanced eruption of teeth  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of permanent teeth  (IAGP)
Aggressive behavior  (IAGP)
Ankle flexion contracture  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Aortic aneurysm  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Arachnoid cyst  (IAGP)
Astigmatism  (IAGP)
Astrocytoma  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral camptodactyly  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brain imaging abnormality  (IAGP)
Broad foot  (IAGP)
Broad forehead  (IAGP)
Broad nasal tip  (IAGP)
Broad thumb  (IAGP)
Camptodactyly of finger  (IAGP)
Cataract  (IAGP)
Cavum septum pellucidum  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Childhood onset  (IAGP)
Cholesteatoma  (IAGP)
Choroid plexus carcinoma  (IAGP)
Chronic otitis media  (IAGP)
Coarse facial features  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital posterior urethral valve  (IAGP)
Constipation  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Decreased body weight  (IAGP)
Decreased fertility  (IAGP)
Decreased fetal movement  (IAGP)
Decreased head circumference  (IAGP)
Deep philtrum  (IAGP)
Deep-set nails  (IAGP)
Delayed eruption of permanent teeth  (IAGP)
Delayed gross motor development  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dyscalculia  (IAGP)
Enlarged cisterna magna  (IAGP)
Enlarged naris  (IAGP)
Episodic vomiting  (IAGP)
Esotropia  (IAGP)
Expressive language delay  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fetal onset  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
Flexion contracture  (IAGP)
Flushing  (IAGP)
Focal impaired awareness seizure  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Glucose intolerance  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hemangioma  (IAGP)
High anterior hairline  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hip contracture  (IAGP)
Hoarse voice  (IAGP)
Hydrocele testis  (IAGP)
Hydronephrosis  (IAGP)
Hypercalcemia  (IAGP)
Hypermetropia  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypodontia  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic toenails  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Increased arm span  (IAGP)
Increased body weight  (IAGP)
Increased circulating insulin-like growth factor 1 concentration  (IAGP)
Increased head circumference  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Large hands  (IAGP)
Long face  (IAGP)
Long foot  (IAGP)
Long metacarpals  (IAGP)
Long phalanx of finger  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Motor delay  (IAGP)
Muscular ventricular septal defect  (IAGP)
Myopia  (IAGP)
Narrow face  (IAGP)
Narrow jaw  (IAGP)
Narrow palate  (IAGP)
Neonatal hypoglycemia  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal onset  (IAGP)
Neoplasm  (IAGP)
Neuroblastoma  (IAGP)
Neurodevelopmental delay  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Nystagmus  (IAGP)
Osteopenia  (IAGP)
Otitis media  (IAGP)
Overgrowth  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Pedal edema  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Phimosis  (IAGP)
Pointed chin  (IAGP)
Poor coordination  (IAGP)
Posteriorly rotated ears  (IAGP)
Preeclampsia  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Prominent forehead  (IAGP)
Pulmonary bleb  (IAGP)
Redundant skin  (IAGP)
Renal agenesis  (IAGP)
Renal insufficiency  (IAGP)
Retrognathia  (IAGP)
Round face  (IAGP)
Sacrococcygeal teratoma  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Small cell lung carcinoma  (IAGP)
Small nail  (IAGP)
Sparse anterior scalp hair  (IAGP)
Sparse eyebrow  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Stuttering  (IAGP)
Talipes equinovarus  (IAGP)
Tall chin  (IAGP)
Tall stature  (IAGP)
Thin nail  (IAGP)
Tremor  (IAGP)
Triangular face  (IAGP)
Umbilical hernia  (IAGP)
Ureteral duplication  (IAGP)
Ureteropelvic junction obstruction  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. Berdasco M, etal., Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21830-5. doi: 10.1073/pnas.0906831106. Epub 2009 Dec 14.
2. Histone lysine methylation dynamics: establishment, regulation, and biological impact. Black JC, etal., Mol Cell. 2012 Nov 30;48(4):491-507. doi: 10.1016/j.molcel.2012.11.006.
3. Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations. de Boer L, etal., Acta Paediatr. 2005 Aug;94(8):1142-4.
4. Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system. De Boer L, etal., Eur J Endocrinol. 2004 Sep;151(3):333-41.
5. Genotype-phenotype correlation in patients suspected of having Sotos syndrome. de Boer L, etal., Horm Res. 2004;62(4):197-207. Epub 2004 Sep 24.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. A transposon-based analysis of gene mutations related to skin cancer development. Quintana RM, etal., J Invest Dermatol. 2013 Jan;133(1):239-48. doi: 10.1038/jid.2012.245. Epub 2012 Jul 26.
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly. Rosenfeld JA, etal., Mol Syndromol. 2013 Jan;3(6):247-54. doi: 10.1159/000345578. Epub 2013 Jan 5.
14. NUP98-NSD1 gene fusion and its related gene expression signature are strongly associated with a poor prognosis in pediatric acute myeloid leukemia. Shiba N, etal., Genes Chromosomes Cancer. 2013 Jul;52(7):683-93. doi: 10.1002/gcc.22064. Epub 2013 Apr 30.
15. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Turkmen S, etal., Eur J Hum Genet. 2003 Nov;11(11):858-65.
16. Familial gigantism caused by an NSD1 mutation. van Haelst MM, etal., Am J Med Genet A. 2005 Nov 15;139(1):40-4.
Additional References at PubMed
PMID:8889548   PMID:9628876   PMID:11266437   PMID:11493482   PMID:11509567   PMID:11733144   PMID:11896389   PMID:12464997   PMID:12477932   PMID:12525543   PMID:12676901   PMID:12687502  
PMID:12807965   PMID:12931227   PMID:14702039   PMID:14997421   PMID:15146197   PMID:15169884   PMID:15365454   PMID:15382262   PMID:15539801   PMID:15580547   PMID:15623156   PMID:15640245  
PMID:15742365   PMID:15942875   PMID:16010675   PMID:16780628   PMID:17437319   PMID:17561922   PMID:17565729   PMID:17589499   PMID:18001468   PMID:19039236   PMID:19545651   PMID:19596467  
PMID:19876911   PMID:20080798   PMID:20301471   PMID:20301652   PMID:20420030   PMID:20837538   PMID:21030982   PMID:21196496   PMID:21597970   PMID:21806967   PMID:21813447   PMID:21873635  
PMID:21972110   PMID:22586326   PMID:22703881   PMID:23190751   PMID:23333153   PMID:23592277   PMID:23793025   PMID:23975195   PMID:23999921   PMID:24019522   PMID:24034695   PMID:24292684  
PMID:24412544   PMID:24795065   PMID:24951466   PMID:25145343   PMID:25193115   PMID:25494638   PMID:25942451   PMID:26487424   PMID:26496610   PMID:26613968   PMID:26690673   PMID:26864203  
PMID:26912663   PMID:26940890   PMID:27020509   PMID:27172843   PMID:28328121   PMID:28457852   PMID:28514442   PMID:28754676   PMID:28776436   PMID:28794006   PMID:29117863   PMID:29176703  
PMID:29507755   PMID:29509190   PMID:29636367   PMID:29656893   PMID:30021884   PMID:30554943   PMID:30601169   PMID:30719864   PMID:30804502   PMID:31060750   PMID:31409373   PMID:31527615  
PMID:31550809   PMID:31586073   PMID:31727171   PMID:31914674   PMID:32277047   PMID:32296183   PMID:32380506   PMID:32513696   PMID:32533074   PMID:32677741   PMID:33191647   PMID:33332788  
PMID:33389145   PMID:33438746   PMID:33536335   PMID:33626351   PMID:33961781   PMID:34011540   PMID:34079125   PMID:34271259   PMID:34349018   PMID:34405946   PMID:34535262   PMID:34857952  
PMID:34905470   PMID:35094088   PMID:35200072   PMID:35271311   PMID:35439318   PMID:35532818   PMID:35537449   PMID:35748872   PMID:35925544   PMID:36089195   PMID:36243803   PMID:36261088  
PMID:36373674   PMID:36550402   PMID:36629882   PMID:36724073   PMID:36833222   PMID:37108203   PMID:37147424   PMID:37150325   PMID:37311054   PMID:37433992   PMID:37689310   PMID:37827155  
PMID:37989294   PMID:38012390   PMID:38280479   PMID:38334954   PMID:38684994   PMID:39009827   PMID:39336709   PMID:39358380   PMID:39617063   PMID:40437099  


Genomics

Comparative Map Data
NSD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385177,131,798 - 177,300,213 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5177,131,830 - 177,300,213 (+)Ensemblhg38GRCh38
GRCh375176,558,799 - 176,727,214 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,493,532 - 176,655,369 (+)NCBIBuild 36Build 36hg18NCBI36
Build 345176,494,690 - 176,655,367NCBI
Celera5171,774,148 - 171,941,231 (-)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5171,481,615 - 171,647,948 (+)NCBIHuRef
CHM1_15175,992,834 - 176,160,257 (+)NCBICHM1_1
T2T-CHM13v2.05177,675,008 - 177,843,448 (+)NCBIT2T-CHM13v2.0
Nsd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391355,357,595 - 55,466,138 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1355,357,595 - 55,466,138 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381355,209,782 - 55,318,325 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1355,209,782 - 55,318,325 (+)Ensemblmm10GRCm38
MGSCv371355,311,143 - 55,419,686 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361355,243,517 - 55,324,503 (+)NCBIMGSCv36mm8
Celera1356,265,599 - 56,373,905 (+)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1329.8NCBI
Nsd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8179,317,085 - 9,431,528 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl179,317,085 - 9,452,250 (-)EnsemblGRCr8
mRatBN7.2179,311,963 - 9,426,373 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,315,237 - 9,425,358 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx179,328,369 - 9,440,603 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01710,857,509 - 10,970,288 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0179,324,761 - 9,437,004 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0179,840,859 - 9,955,391 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl179,844,133 - 9,952,898 (-)Ensemblrn6Rnor6.0
Rnor_5.01711,950,539 - 12,065,042 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41715,362,482 - 15,471,961 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera179,393,607 - 9,502,492 (-)NCBICelera
RGSC_v3.11715,363,376 - 15,471,151 (-)NCBI
Cytogenetic Map17p14NCBI
Nsd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540829,413,595 - 29,542,768 (+)Ensembl
ChiLan1.0NW_00495540829,416,393 - 29,547,444 (+)NCBIChiLan1.0ChiLan1.0
NSD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24172,214,174 - 172,384,745 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15170,353,696 - 170,524,284 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05172,431,968 - 172,602,174 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15179,499,866 - 179,666,351 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5179,499,865 - 179,666,351 (+)EnsemblpanPan2panpan1.1
NSD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1436,058,351 - 36,214,254 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl436,063,134 - 36,210,999 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha436,025,606 - 36,179,354 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0436,424,511 - 36,576,907 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl436,429,281 - 36,578,335 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1436,249,611 - 36,403,905 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0436,435,795 - 36,591,251 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0436,945,351 - 37,099,849 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Nsd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213122,401,170 - 122,552,286 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365971,425,974 - 1,572,715 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365971,426,318 - 1,577,193 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NSD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl280,654,379 - 80,809,059 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1280,649,882 - 80,810,934 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2282,120,312 - 82,218,958 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NSD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12379,140,148 - 79,309,579 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2379,141,114 - 79,304,820 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366607510,326,178 - 10,497,901 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nsd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473312,786,347 - 12,927,980 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462473312,781,693 - 12,929,861 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in NSD1
1971 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022455.5(NSD1):c.7414C>T (p.Pro2472Ser) single nucleotide variant not provided [RCV005208573] Chr5:177294782 [GRCh38]
Chr5:176721783 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.1483G>A (p.Ala495Thr) single nucleotide variant Sotos syndrome [RCV003231518]|not provided [RCV005091254] Chr5:177209882 [GRCh38]
Chr5:176636883 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.2636_2637del (p.Ser879fs) microsatellite Neurodevelopmental delay [RCV002274053]|not provided [RCV000521095] Chr5:177211033..177211034 [GRCh38]
Chr5:176638034..176638035 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6170A>G (p.Asn2057Ser) single nucleotide variant not provided [RCV000521867] Chr5:177288837 [GRCh38]
Chr5:176715838 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4786T>A (p.Cys1596Ser) single nucleotide variant not provided [RCV000520025] Chr5:177256971 [GRCh38]
Chr5:176683972 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000005.10:g.(?_177131798)_(177300213_)?)del deletion Sotos syndrome [RCV003231075] Chr5:5q35 pathogenic
NM_022455.5(NSD1):c.1310C>G (p.Ser437Ter) single nucleotide variant Sotos syndrome [RCV003231077]|not provided [RCV003231076] Chr5:177209709 [GRCh38]
Chr5:176636710 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3536del (p.Glu1179fs) deletion Sotos syndrome [RCV003231078] Chr5:177211935 [GRCh38]
Chr5:176638936 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5997_5998insT (p.Thr2000fs) insertion Sotos syndrome [RCV003231079] Chr5:177282569..177282570 [GRCh38]
Chr5:176709570..176709571 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6151+1G>A single nucleotide variant Sotos syndrome [RCV003231080]|not provided [RCV001818128] Chr5:177283929 [GRCh38]
Chr5:176710930 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6429C>G (p.His2143Gln) single nucleotide variant Sotos syndrome [RCV003231081] Chr5:177292124 [GRCh38]
Chr5:176719125 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6548G>C (p.Cys2183Ser) single nucleotide variant Sotos syndrome [RCV003231082] Chr5:177293916 [GRCh38]
Chr5:176720917 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6450dup (p.Lys2151fs) duplication Sotos syndrome [RCV003231083] Chr5:177292143..177292144 [GRCh38]
Chr5:176719144..176719145 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.896del (p.Ser299fs) deletion Sotos syndrome [RCV003231084] Chr5:177135999 [GRCh38]
Chr5:176563000 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter) single nucleotide variant Sotos syndrome [RCV003231085]|not provided [RCV000487238] Chr5:177238273 [GRCh38]
Chr5:176665274 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4977dup (p.Arg1660fs) duplication Sotos syndrome [RCV003231086] Chr5:177259998..177259999 [GRCh38]
Chr5:176686999..176687000 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7968_7971del (p.Gln2656fs) deletion Sotos syndrome [RCV003231087] Chr5:177295333..177295336 [GRCh38]
Chr5:176722334..176722337 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr) single nucleotide variant Sotos syndrome [RCV003231088]|not provided [RCV001813734] Chr5:177293973 [GRCh38]
Chr5:176720974 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.983G>A (p.Trp328Ter) single nucleotide variant not provided [RCV005091837] Chr5:177191939 [GRCh38]
Chr5:176618940 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6437G>A (p.Cys2146Tyr) single nucleotide variant not provided [RCV005091843] Chr5:177292132 [GRCh38]
Chr5:176719133 [GRCh37]
Chr5:5q35.3		 pathogenic|uncertain significance
NM_022455.5(NSD1):c.7145C>T (p.Thr2382Ile) single nucleotide variant Sotos syndrome [RCV003231562]|not provided [RCV001692238] Chr5:177294513 [GRCh38]
Chr5:176721514 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.1797C>T (p.Ile599=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000628589]|not provided [RCV005091846] Chr5:177210196 [GRCh38]
Chr5:176637197 [GRCh37]
Chr5:5q35.3		 likely benign|no classifications from unflagged records
NM_022455.5(NSD1):c.4607G>T (p.Gly1536Val) single nucleotide variant not provided [RCV000722883] Chr5:177248290 [GRCh38]
Chr5:176675291 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5898_5899insG (p.Phe1967fs) insertion not provided [RCV000522350] Chr5:177282470..177282471 [GRCh38]
Chr5:176709471..176709472 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6089A>C (p.Gln2030Pro) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000543532] Chr5:177283866 [GRCh38]
Chr5:176710867 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4856G>A (p.Cys1619Tyr) single nucleotide variant not provided [RCV005091258] Chr5:177257041 [GRCh38]
Chr5:176684042 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2892_2914dup (p.Thr972fs) duplication not provided [RCV000520335] Chr5:177211289..177211290 [GRCh38]
Chr5:176638290..176638291 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4484T>G (p.Ile1495Ser) single nucleotide variant not provided [RCV000523174] Chr5:177246783 [GRCh38]
Chr5:176673784 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4765+4A>G single nucleotide variant not provided [RCV000578799] Chr5:177251857 [GRCh38]
Chr5:176678858 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1096G>A (p.Val366Met) single nucleotide variant NSD1-related disorder [RCV003392353]|not provided [RCV000518954] Chr5:177204152 [GRCh38]
Chr5:176631153 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.805G>A (p.Glu269Lys) single nucleotide variant Sotos syndrome [RCV003231631]|not provided [RCV000520028] Chr5:177135908 [GRCh38]
Chr5:176562909 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6492dup (p.Asp2165Ter) duplication not provided [RCV000519016] Chr5:177293859..177293860 [GRCh38]
Chr5:176720860..176720861 [GRCh37]
Chr5:5q35.3		 likely pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1 copy number loss See cases [RCV000050645] Chr5:176132340..177586960 [GRCh38]
Chr5:175559343..177013961 [GRCh37]
Chr5:175491949..176946567 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 copy number gain See cases [RCV000051867] Chr5:175851047..178365049 [GRCh38]
Chr5:175278050..177792050 [GRCh37]
Chr5:175210656..177724656 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 copy number gain See cases [RCV000051868] Chr5:175889986..180793986 [GRCh38]
Chr5:175316989..180220986 [GRCh37]
Chr5:175249595..180153592 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 copy number loss See cases [RCV000052151] Chr5:175007241..179089812 [GRCh38]
Chr5:174434244..178516813 [GRCh37]
Chr5:174366850..178449419 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.3(chr5:177228604-177246556)x1 copy number loss See cases [RCV000052158] Chr5:177228604..177246556 [GRCh38]
Chr5:176655605..176673557 [GRCh37]
Chr5:176588211..176606163 [NCBI36]
Chr5:5q35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 copy number loss See cases [RCV000053127] Chr5:176043476..177995759 [GRCh38]
Chr5:175470479..177422760 [GRCh37]
Chr5:175403085..177355366 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 copy number loss See cases [RCV000053128] Chr5:176115257..177646633 [GRCh38]
Chr5:175542260..177073634 [GRCh37]
Chr5:175474866..177006240 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1 copy number loss See cases [RCV000053129] Chr5:176152073..177986213 [GRCh38]
Chr5:175579076..177413214 [GRCh37]
Chr5:175511682..177345820 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 copy number loss See cases [RCV000053131] Chr5:176152073..177646633 [GRCh38]
Chr5:175579076..177073634 [GRCh37]
Chr5:175511682..177006240 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 copy number gain See cases [RCV000053481] Chr5:176149599..177716401 [GRCh38]
Chr5:175576602..177143402 [GRCh37]
Chr5:175509208..177076008 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic|uncertain significance
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177452489)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|See cases [RCV000053860] Chr5:176043476..177452489 [GRCh38]
Chr5:175470479..176879490 [GRCh37]
Chr5:175403085..176812096 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic|uncertain significance
NM_022455.4(NSD1):c.147G>A (p.Gln49=) single nucleotide variant Malignant melanoma [RCV000066863] Chr5:177135250 [GRCh38]
Chr5:176562251 [GRCh37]
Chr5:176494857 [NCBI36]
Chr5:5q35.3		 not provided
NM_022455.5(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer) duplication Sotos syndrome [RCV003231569] Chr5:177211433..177211434 [GRCh38]
Chr5:176638434..176638435 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3649C>A (p.Pro1217Thr) single nucleotide variant Sotos syndrome [RCV003231570]|not provided [RCV005056400] Chr5:177212048 [GRCh38]
Chr5:176639049 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter) single nucleotide variant Sotos syndrome [RCV003232068] Chr5:177292023 [GRCh38]
Chr5:176719024 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr) single nucleotide variant Sotos syndrome [RCV003231572] Chr5:177293981 [GRCh38]
Chr5:176720982 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3548_3549insG (p.Ser1183_Glu1184insTer) insertion Sotos syndrome [RCV003232062]|not provided [RCV000657841] Chr5:177211947..177211948 [GRCh38]
Chr5:176638948..176638949 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4765+18C>T single nucleotide variant Sotos syndrome [RCV003232064]|not provided [RCV005091907] Chr5:177251871 [GRCh38]
Chr5:176678872 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5779G>C (p.Ala1927Pro) single nucleotide variant Sotos syndrome [RCV003232065]|not provided [RCV004719922] Chr5:177280721 [GRCh38]
Chr5:176707722 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) single nucleotide variant Inborn genetic diseases [RCV002313817]|NSD1-related disorder [RCV003935067]|Sotos syndrome [RCV003231117]|not provided [RCV000082099]|not specified [RCV005055571] Chr5:177209763 [GRCh38]
Chr5:176636764 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1482C>T (p.Cys494=) single nucleotide variant Inborn genetic diseases [RCV002311701]|Sotos syndrome [RCV003231118]|not provided [RCV001711254]|not specified [RCV000082100] Chr5:177209881 [GRCh38]
Chr5:176636882 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1515T>C (p.Asn505=) single nucleotide variant Inborn genetic diseases [RCV002316268]|Sotos syndrome [RCV003231119]|not provided [RCV005089550]|not specified [RCV000082101] Chr5:177209914 [GRCh38]
Chr5:176636915 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp) single nucleotide variant Inborn genetic diseases [RCV002390241]|Sotos syndrome [RCV003231120]|not provided [RCV000082102] Chr5:177210065 [GRCh38]
Chr5:176637066 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1749G>A (p.Glu583=) single nucleotide variant Inborn genetic diseases [RCV002311702]|Sotos syndrome [RCV003231121]|not provided [RCV001650930]|not specified [RCV000082103] Chr5:177210148 [GRCh38]
Chr5:176637149 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1770A>G (p.Leu590=) single nucleotide variant not provided [RCV000082104] Chr5:177210169 [GRCh38]
Chr5:176637170 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1792T>C (p.Leu598=) single nucleotide variant Inborn genetic diseases [RCV002311703]|Sotos syndrome [RCV003231122]|not provided [RCV001675611]|not specified [RCV000082105] Chr5:177210191 [GRCh38]
Chr5:176637192 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.1829A>G (p.Gln610Arg) single nucleotide variant not provided [RCV000082106] Chr5:177210228 [GRCh38]
Chr5:176637229 [GRCh37]
Chr5:5q35.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1840G>T (p.Val614Leu) single nucleotide variant Inborn genetic diseases [RCV002311704]|Sotos syndrome [RCV003231124]|not provided [RCV001596954]|not specified [RCV000082107] Chr5:177210239 [GRCh38]
Chr5:176637240 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro) single nucleotide variant Inborn genetic diseases [RCV002311705]|Sotos syndrome [RCV003231125]|not provided [RCV001539216]|not specified [RCV000082108] Chr5:177210575 [GRCh38]
Chr5:177210575..177210576 [GRCh38]
Chr5:176637576 [GRCh37]
Chr5:176637576..176637577 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2349del (p.Lys783fs) deletion not provided [RCV000178991] Chr5:177210746 [GRCh38]
Chr5:176637747 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu) single nucleotide variant Inborn genetic diseases [RCV002444551]|Sotos syndrome [RCV003231126]|not provided [RCV000082110] Chr5:177210749 [GRCh38]
Chr5:176637750 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr) single nucleotide variant Inborn genetic diseases [RCV003258665]|Sotos syndrome [RCV003231127]|not provided [RCV000082111] Chr5:177210798 [GRCh38]
Chr5:176637799 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) single nucleotide variant Inborn genetic diseases [RCV002311706]|Sotos syndrome [RCV003231128]|not provided [RCV001650931]|not specified [RCV000082112] Chr5:177210849 [GRCh38]
Chr5:176637850 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.2711A>C (p.Asp904Ala) single nucleotide variant not provided [RCV000082113] Chr5:177211110 [GRCh38]
Chr5:176638111 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) single nucleotide variant Inborn genetic diseases [RCV002313818]|NSD1-related disorder [RCV003935068]|Sotos syndrome [RCV003231129]|not provided [RCV003421976]|not specified [RCV000082114] Chr5:177211234 [GRCh38]
Chr5:176638235 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.2985A>G (p.Leu995=) single nucleotide variant not provided [RCV000082115] Chr5:177211384 [GRCh38]
Chr5:176638385 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) single nucleotide variant Inborn genetic diseases [RCV002316269]|Sotos syndrome [RCV003231130]|not provided [RCV000723654]|not specified [RCV000254116] Chr5:177211487 [GRCh38]
Chr5:176638488 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) single nucleotide variant Inborn genetic diseases [RCV002313819]|NSD1-related disorder [RCV003945026]|Sotos syndrome [RCV003231131]|not provided [RCV000082117] Chr5:177211549 [GRCh38]
Chr5:176638550 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala) single nucleotide variant Inborn genetic diseases [RCV002311707]|NSD1-related disorder [RCV003915099]|Sotos syndrome [RCV003231132]|not provided [RCV001709482]|not specified [RCV000082118] Chr5:177211586 [GRCh38]
Chr5:176638587 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) single nucleotide variant Inborn genetic diseases [RCV002453408]|Sotos syndrome [RCV003231133]|not provided [RCV000723620]|not specified [RCV000254432] Chr5:177211788 [GRCh38]
Chr5:176638789 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) single nucleotide variant Inborn genetic diseases [RCV002313820]|NSD1-related disorder [RCV003952525]|Sotos syndrome [RCV003231134]|not provided [RCV000723570] Chr5:177211792 [GRCh38]
Chr5:176638793 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3558C>G (p.Ala1186=) single nucleotide variant Sotos syndrome [RCV003231135]|not provided [RCV000082121] Chr5:177211957 [GRCh38]
Chr5:176638958 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=) single nucleotide variant Inborn genetic diseases [RCV002311708]|Sotos syndrome [RCV003231136]|not provided [RCV001647064]|not specified [RCV000082122] Chr5:177212104 [GRCh38]
Chr5:176639105 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) single nucleotide variant Inborn genetic diseases [RCV002311709]|Sotos syndrome [RCV003231137]|not provided [RCV005089551]|not specified [RCV000242052] Chr5:177246772 [GRCh38]
Chr5:176673773 [GRCh37]
Chr5:5q35.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4498-10del deletion Sotos syndrome [RCV003231138]|not provided [RCV001541523]|not specified [RCV000082124] Chr5:177248166 [GRCh38]
Chr5:176675167 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4844A>G (p.Tyr1615Cys) single nucleotide variant not provided [RCV000082125] Chr5:177257029 [GRCh38]
Chr5:176684030 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) single nucleotide variant Inborn genetic diseases [RCV002336237]|NSD1-related disorder [RCV003935069]|Sotos syndrome [RCV003231139]|not provided [RCV000723729] Chr5:177257077 [GRCh38]
Chr5:176684078 [GRCh37]
Chr5:5q35.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs) deletion Sotos syndrome [RCV003231140]|not provided [RCV000790651] Chr5:177267692..177267695 [GRCh38]
Chr5:176694693..176694696 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) single nucleotide variant Inborn genetic diseases [RCV002313821]|NSD1-related disorder [RCV003964944]|Sotos syndrome [RCV003231141]|not provided [RCV000723571] Chr5:177273682 [GRCh38]
Chr5:176700683 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) single nucleotide variant Inborn genetic diseases [RCV002354282]|Sotos syndrome [RCV003231142]|not provided [RCV001795151]|not specified [RCV000082129] Chr5:177280723 [GRCh38]
Chr5:176707724 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) single nucleotide variant See cases [RCV003156070]|Sotos syndrome [RCV003231143]|not provided [RCV000493737]|not specified [RCV001818251] Chr5:177288840 [GRCh38]
Chr5:176715841 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) single nucleotide variant NSD1-related disorder [RCV004751258]|Sotos syndrome [RCV003231144]|not provided [RCV001092136]|not specified [RCV000146929] Chr5:177292139 [GRCh38]
Chr5:176719140 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6463+1G>A single nucleotide variant not provided [RCV000176326] Chr5:177292159 [GRCh38]
Chr5:176719160 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6533G>A (p.Cys2178Tyr) single nucleotide variant not provided [RCV000082133] Chr5:177293901 [GRCh38]
Chr5:176720902 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6538_6539insC (p.Ser2180fs) insertion not provided [RCV000176424] Chr5:177293906..177293907 [GRCh38]
Chr5:176720907..176720908 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile) single nucleotide variant Inborn genetic diseases [RCV002311710]|Sotos syndrome [RCV003231145]|not provided [RCV001539376]|not specified [RCV000082135] Chr5:177294118 [GRCh38]
Chr5:176721119 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr) single nucleotide variant Inborn genetic diseases [RCV002311711]|Sotos syndrome [RCV003231146]|not provided [RCV001573492]|not specified [RCV000082136] Chr5:177294150 [GRCh38]
Chr5:176721151 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.6796A>G (p.Lys2266Glu) single nucleotide variant Sotos syndrome [RCV005035510] Chr5:177294164 [GRCh38]
Chr5:176721165 [GRCh37]
Chr5:5q35.3		 uncertain significance|other|not provided
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) single nucleotide variant Inborn genetic diseases [RCV002311712]|Sotos syndrome [RCV003231147]|not provided [RCV005089552]|not specified [RCV000082138] Chr5:177294197 [GRCh38]
Chr5:176721198 [GRCh37]
Chr5:5q35.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=) single nucleotide variant Inborn genetic diseases [RCV002311713]|Sotos syndrome [RCV003231148]|not provided [RCV001709483]|not specified [RCV000082139] Chr5:177294271 [GRCh38]
Chr5:176721272 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.7033G>T (p.Val2345Phe) single nucleotide variant Inborn genetic diseases [RCV005372234]|not provided [RCV000082140]|not specified [RCV005055572] Chr5:177294401 [GRCh38]
Chr5:176721402 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del) microsatellite not provided [RCV000082141] Chr5:177135853..177135855 [GRCh38]
Chr5:176562854..176562856 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000515435]|Inborn genetic diseases [RCV002390242]|Sotos syndrome [RCV003231150]|not provided [RCV000082142]|not specified [RCV001172456] Chr5:177294944 [GRCh38]
Chr5:176721945 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) single nucleotide variant Inborn genetic diseases [RCV003162516]|Sotos syndrome [RCV003231151]|not provided [RCV000723554]|not specified [RCV000146951] Chr5:177294965 [GRCh38]
Chr5:176721966 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) single nucleotide variant Inborn genetic diseases [RCV002311714]|Sotos syndrome [RCV003231152]|not provided [RCV001573769]|not specified [RCV000082144] Chr5:177295004 [GRCh38]
Chr5:176722005 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.7742A>G (p.Lys2581Arg) single nucleotide variant Sotos syndrome [RCV005031569]|not provided [RCV000082145] Chr5:177295110 [GRCh38]
Chr5:176722111 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=) single nucleotide variant not provided [RCV000082146] Chr5:177295147 [GRCh38]
Chr5:176722148 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) single nucleotide variant Inborn genetic diseases [RCV002313822]|NSD1-related disorder [RCV003891571]|Sotos syndrome [RCV003231154]|not provided [RCV001572829]|not specified [RCV000082147] Chr5:177295218 [GRCh38]
Chr5:176722219 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_022455.5(NSD1):c.4921A>G (p.Ile1641Val) single nucleotide variant Intellectual disability [RCV001251863] Chr5:177257106 [GRCh38]
Chr5:176684107 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7433A>G (p.Gln2478Arg) single nucleotide variant not provided [RCV003223858] Chr5:177294801 [GRCh38]
Chr5:176721802 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) single nucleotide variant Acute myeloid leukemia [RCV000763136]|Neurodevelopmental delay [RCV002273973]|Sotos syndrome [RCV003231356]|not provided [RCV000724287] Chr5:177269630 [GRCh38]
Chr5:176696631 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4642-7T>C single nucleotide variant NSD1-related disorder [RCV003975272]|Sotos syndrome [RCV003231355]|not provided [RCV000861490]|not specified [RCV000174401] Chr5:177251723 [GRCh38]
Chr5:176678724 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.1824del (p.Lys608fs) deletion not provided [RCV000171520] Chr5:177210221 [GRCh38]
Chr5:176637222 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter) single nucleotide variant Sotos syndrome [RCV004020045]|not provided [RCV000171389] Chr5:177210457 [GRCh38]
Chr5:176637458 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|no classifications from unflagged records
NM_022455.5(NSD1):c.3404C>T (p.Pro1135Leu) single nucleotide variant Sotos syndrome [RCV003232287] Chr5:177211803 [GRCh38]
Chr5:176638804 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5509+1G>A single nucleotide variant Sotos syndrome [RCV003232286] Chr5:177269808 [GRCh38]
Chr5:176696809 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7076C>T (p.Pro2359Leu) single nucleotide variant Inborn genetic diseases [RCV002548724]|not provided [RCV005095349] Chr5:177294444 [GRCh38]
Chr5:176721445 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs) deletion Sotos syndrome [RCV003231364]|not provided [RCV000599169] Chr5:177239777..177239780 [GRCh38]
Chr5:176666778..176666781 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3154C>T (p.Arg1052Cys) single nucleotide variant not specified [RCV000178990] Chr5:177211553 [GRCh38]
Chr5:176638554 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1028C>G (p.Ser343Cys) single nucleotide variant Sotos syndrome [RCV003232284] Chr5:177191984 [GRCh38]
Chr5:176618985 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3797-283T>C single nucleotide variant not provided [RCV001545626] Chr5:177235538 [GRCh38]
Chr5:176662539 [GRCh37]
Chr5:5q35.3		 likely benign
NC_000005.10:g.(?_177288799)_(177288945_?)del deletion Beckwith-Wiedemann syndrome [RCV001032905]|Sotos syndrome [RCV003232186] Chr5:176715800..176715946 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter) single nucleotide variant Sotos syndrome [RCV003231269]|not provided [RCV002469024] Chr5:177269729 [GRCh38]
Chr5:176696730 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5392_5398del (p.Phe1798fs) deletion Sotos syndrome [RCV003231266] Chr5:177269690..177269696 [GRCh38]
Chr5:176696691..176696697 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro) single nucleotide variant Sotos syndrome [RCV003231267] Chr5:177269717 [GRCh38]
Chr5:176696718 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5425C>T (p.Gln1809Ter) single nucleotide variant Sotos syndrome [RCV003231268]|not provided [RCV005089702] Chr5:177269723 [GRCh38]
Chr5:176696724 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5432G>A (p.Arg1811Gln) single nucleotide variant Sotos syndrome [RCV003231270] Chr5:177269730 [GRCh38]
Chr5:176696731 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5471A>G (p.Asp1824Gly) single nucleotide variant Sotos syndrome [RCV003231271] Chr5:177269769 [GRCh38]
Chr5:176696770 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5566C>T (p.Gln1856Ter) single nucleotide variant Sotos syndrome [RCV003231272] Chr5:177273728 [GRCh38]
Chr5:176700729 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs) microsatellite Sotos syndrome [RCV003231273]|not provided [RCV000480832] Chr5:177273777..177273778 [GRCh38]
Chr5:176700778..176700779 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5712del (p.Cys1905fs) deletion Sotos syndrome [RCV003231274] Chr5:177280651 [GRCh38]
Chr5:176707652 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys) single nucleotide variant Sotos syndrome [RCV003231275]|not provided [RCV000493073] Chr5:177280682 [GRCh38]
Chr5:176707683 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro) single nucleotide variant Sotos syndrome [RCV003231276] Chr5:177280683 [GRCh38]
Chr5:176707684 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser) single nucleotide variant Sotos syndrome [RCV003231277] Chr5:177280740 [GRCh38]
Chr5:176707741 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5800C>T (p.Gln1934Ter) single nucleotide variant Sotos syndrome [RCV003231278] Chr5:177280742 [GRCh38]
Chr5:176707743 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5805C>A (p.Cys1935Ter) single nucleotide variant Sotos syndrome [RCV003231279] Chr5:177280747 [GRCh38]
Chr5:176707748 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5809T>C (p.Ser1937Pro) single nucleotide variant Sotos syndrome [RCV003231280] Chr5:177280751 [GRCh38]
Chr5:176707752 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5862G>C (p.Trp1954Cys) single nucleotide variant Sotos syndrome [RCV003231281] Chr5:177280804 [GRCh38]
Chr5:176707805 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5869C>T (p.Arg1957Trp) single nucleotide variant not specified [RCV000146890] Chr5:177280811 [GRCh38]
Chr5:176707812 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr) single nucleotide variant Sotos syndrome [RCV003231282]|not provided [RCV005208701] Chr5:177280827 [GRCh38]
Chr5:176707828 [GRCh37]
Chr5:5q35.3		 pathogenic|uncertain significance
NM_022455.5(NSD1):c.5893-2A>G single nucleotide variant Sotos syndrome [RCV003231283] Chr5:177282463 [GRCh38]
Chr5:176709464 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5903del (p.Val1968fs) deletion Sotos syndrome [RCV003231284] Chr5:177282475 [GRCh38]
Chr5:176709476 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5911del (p.Tyr1971fs) deletion Sotos syndrome [RCV003231285] Chr5:177282483 [GRCh38]
Chr5:176709484 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val) single nucleotide variant Sotos syndrome [RCV003231286] Chr5:177282490 [GRCh38]
Chr5:176709491 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys) single nucleotide variant Sotos syndrome [RCV003231287] Chr5:177282499 [GRCh38]
Chr5:176709500 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter) single nucleotide variant Sotos syndrome [RCV003231288] Chr5:177282510 [GRCh38]
Chr5:176709511 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln) single nucleotide variant Sotos syndrome [RCV003231289]|not provided [RCV000405920] Chr5:177282523 [GRCh38]
Chr5:176709524 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) single nucleotide variant Acute myeloid leukemia [RCV000763137]|Sotos syndrome [RCV003231290] Chr5:177282537 [GRCh38]
Chr5:176709538 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His) single nucleotide variant Sotos syndrome [RCV003231291]|not provided [RCV000493770] Chr5:177282561 [GRCh38]
Chr5:176709562 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.6001C>T (p.Leu2001=) single nucleotide variant not provided [RCV005089703]|not specified [RCV000146901] Chr5:177282573 [GRCh38]
Chr5:176709574 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) single nucleotide variant Sotos syndrome [RCV003231293]|not provided [RCV000255064] Chr5:177283790 [GRCh38]
Chr5:176710791 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000793328]|Sotos syndrome [RCV003231294]|not provided [RCV000286929] Chr5:177283791 [GRCh38]
Chr5:176710792 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His) single nucleotide variant Sotos syndrome [RCV003231295]|not provided [RCV005089704] Chr5:177283820 [GRCh38]
Chr5:176710821 [GRCh37]
Chr5:5q35.3		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp) single nucleotide variant Sotos syndrome [RCV003231296]|not provided [RCV000724072] Chr5:177283826 [GRCh38]
Chr5:176710827 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) single nucleotide variant Hypertelorism [RCV000415049]|Preeclampsia [RCV000414978]|Sotos syndrome [RCV003231297]|not provided [RCV000290468] Chr5:177283827 [GRCh38]
Chr5:176710828 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.6059A>G (p.Asn2020Ser) single nucleotide variant Sotos syndrome [RCV003231298]|not provided [RCV001561957] Chr5:177283836 [GRCh38]
Chr5:176710837 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter) single nucleotide variant Sotos syndrome [RCV003231299]|not provided [RCV000578910] Chr5:177283847 [GRCh38]
Chr5:176710848 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser) single nucleotide variant Sotos syndrome [RCV003231300] Chr5:177283857 [GRCh38]
Chr5:176710858 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile) single nucleotide variant Sotos syndrome [RCV003231301]|not provided [RCV004760397] Chr5:177283863 [GRCh38]
Chr5:176710864 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6152-14G>A single nucleotide variant Inborn genetic diseases [RCV004955289]|Sotos syndrome [RCV003231302]|not provided [RCV000153612] Chr5:177288805 [GRCh38]
Chr5:176715806 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6157G>T (p.Glu2053Ter) single nucleotide variant Sotos syndrome [RCV003231303] Chr5:177288824 [GRCh38]
Chr5:176715825 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6165del (p.Phe2056fs) deletion Sotos syndrome [RCV003231304] Chr5:177288831 [GRCh38]
Chr5:176715832 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6258+1G>A single nucleotide variant Sotos syndrome [RCV003231305] Chr5:177288926 [GRCh38]
Chr5:176715927 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6259-8A>T single nucleotide variant Sotos syndrome [RCV003231306]|not provided [RCV001573705]|not specified [RCV001726001] Chr5:177291946 [GRCh38]
Chr5:176718947 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6291del (p.Lys2098fs) deletion Sotos syndrome [RCV003231307] Chr5:177291986 [GRCh38]
Chr5:176718987 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6307C>T (p.Gln2103Ter) single nucleotide variant Sotos syndrome [RCV003231308] Chr5:177292002 [GRCh38]
Chr5:176719003 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter) single nucleotide variant Sotos syndrome [RCV003231309]|not provided [RCV002291571] Chr5:177292005 [GRCh38]
Chr5:176719006 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6311_6312del (p.Gln2104fs) deletion Sotos syndrome [RCV003231310] Chr5:177292006..177292007 [GRCh38]
Chr5:176719007..176719008 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) single nucleotide variant Inborn genetic diseases [RCV002512583]|Sotos syndrome [RCV003231311]|not provided [RCV000342078] Chr5:177292044 [GRCh38]
Chr5:176719045 [GRCh37]
Chr5:5q35.3		 pathogenic|conflicting interpretations of pathogenicity
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly) single nucleotide variant Sotos syndrome [RCV003231312]|not provided [RCV005089705] Chr5:177292051 [GRCh38]
Chr5:176719052 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.6366del (p.Phe2122fs) deletion Sotos syndrome [RCV003231313] Chr5:177292058 [GRCh38]
Chr5:176719059 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val) single nucleotide variant Sotos syndrome [RCV003231314] Chr5:177292072 [GRCh38]
Chr5:176719073 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6393C>G (p.Val2131=) single nucleotide variant not specified [RCV000146924] Chr5:177292088 [GRCh38]
Chr5:176719089 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr) single nucleotide variant Sotos syndrome [RCV003231315]|not provided [RCV005089706] Chr5:177292108 [GRCh38]
Chr5:176719109 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6418A>G (p.Lys2140Glu) single nucleotide variant Sotos syndrome [RCV003231316] Chr5:177292113 [GRCh38]
Chr5:176719114 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6421del (p.Val2141fs) deletion Sotos syndrome [RCV003231317]|not provided [RCV000482162] Chr5:177292116 [GRCh38]
Chr5:176719117 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.6431del (p.Ala2144fs) deletion Sotos syndrome [RCV003231318]|not provided [RCV005089707] Chr5:177292126 [GRCh38]
Chr5:176719127 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) single nucleotide variant Sotos syndrome [RCV003231319]|not provided [RCV000394674] Chr5:177292149 [GRCh38]
Chr5:176719150 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) single nucleotide variant Sotos syndrome [RCV003231320]|not provided [RCV001575807] Chr5:177292150 [GRCh38]
Chr5:176719151 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.6472G>T (p.Glu2158Ter) single nucleotide variant Sotos syndrome [RCV003231321] Chr5:177293840 [GRCh38]
Chr5:176720841 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6476G>A (p.Cys2159Tyr) single nucleotide variant Sotos syndrome [RCV003231322] Chr5:177293844 [GRCh38]
Chr5:176720845 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6480G>A (p.Pro2160=) single nucleotide variant NSD1-related disorder [RCV004751292]|not provided [RCV005089708]|not specified [RCV000146934] Chr5:177293848 [GRCh38]
Chr5:176720849 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6485A>C (p.His2162Pro) single nucleotide variant Sotos syndrome [RCV003231324] Chr5:177293853 [GRCh38]
Chr5:176720854 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) single nucleotide variant Sotos syndrome [RCV003231325] Chr5:177293868 [GRCh38]
Chr5:176720869 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del) deletion Sotos syndrome [RCV003231326]|not provided [RCV000481476] Chr5:177293887..177293889 [GRCh38]
Chr5:176720888..176720890 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.6539_6557del (p.Ser2180fs) deletion Sotos syndrome [RCV003231327] Chr5:177293905..177293923 [GRCh38]
Chr5:176720906..176720924 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) single nucleotide variant Sotos syndrome [RCV003231328]|not provided [RCV005055612] Chr5:177293925 [GRCh38]
Chr5:176720926 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter) single nucleotide variant Neurodevelopmental disorder [RCV003389045]|Sotos syndrome [RCV003231329]|not provided [RCV001775633] Chr5:177293927 [GRCh38]
Chr5:176720928 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.6604T>A (p.Cys2202Ser) single nucleotide variant Sotos syndrome [RCV003231330] Chr5:177293972 [GRCh38]
Chr5:176720973 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6630_6644del (p.Asn2211_Pro2215del) deletion Sotos syndrome [RCV003231331] Chr5:177293996..177294010 [GRCh38]
Chr5:176720997..176721011 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6637C>G (p.Leu2213Val) single nucleotide variant Sotos syndrome [RCV003231332] Chr5:177294005 [GRCh38]
Chr5:176721006 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys) single nucleotide variant Sotos syndrome [RCV003231333]|not provided [RCV001753525] Chr5:177294008 [GRCh38]
Chr5:176721009 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.6656G>A (p.Arg2219His) single nucleotide variant Sotos syndrome [RCV003231334] Chr5:177294024 [GRCh38]
Chr5:176721025 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6753A>G (p.Ser2251=) single nucleotide variant Sotos syndrome [RCV003231335] Chr5:177294121 [GRCh38]
Chr5:176721122 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7391G>A (p.Arg2464His) single nucleotide variant Inborn genetic diseases [RCV004955290]|Sotos syndrome [RCV003231336]|not provided [RCV005089709]|not specified [RCV000146947] Chr5:177294759 [GRCh38]
Chr5:176721760 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.7403G>A (p.Arg2468Gln) single nucleotide variant Sotos syndrome [RCV003231337]|not provided [RCV005089710]|not specified [RCV000146948] Chr5:177294771 [GRCh38]
Chr5:176721772 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.7560A>G (p.Ala2520=) single nucleotide variant not specified [RCV000146949] Chr5:177294928 [GRCh38]
Chr5:176721929 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe) single nucleotide variant Inborn genetic diseases [RCV002316943]|NSD1-related disorder [RCV003952703]|Sotos syndrome [RCV003231338]|not provided [RCV001753526]|not specified [RCV000146952] Chr5:177135863 [GRCh38]
Chr5:176562864 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_022455.5(NSD1):c.767C>T (p.Ala256Val) single nucleotide variant not provided [RCV005089711]|not specified [RCV000146953] Chr5:177135870 [GRCh38]
Chr5:176562871 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) single nucleotide variant Inborn genetic diseases [RCV002316944]|NSD1-related disorder [RCV003952704]|Sotos syndrome [RCV003231339]|not provided [RCV001573816]|not specified [RCV000146954] Chr5:177295276 [GRCh38]
Chr5:176722277 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=) single nucleotide variant Sotos syndrome [RCV003231340]|not provided [RCV003221821] Chr5:177295291 [GRCh38]
Chr5:176722292 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.7939_7940del (p.Gln2647fs) microsatellite Sotos syndrome [RCV003231341]|not provided [RCV005243131] Chr5:177295305..177295306 [GRCh38]
Chr5:176722306..176722307 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.8036del (p.Pro2679fs) deletion Sotos syndrome [RCV003231342] Chr5:177295403 [GRCh38]
Chr5:176722404 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.8043del (p.Asn2682fs) deletion Sotos syndrome [RCV003231343] Chr5:177295410 [GRCh38]
Chr5:176722411 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1224A>G (p.Gly408=) single nucleotide variant NSD1-related disorder [RCV003895031]|Sotos syndrome [RCV003231165]|not provided [RCV005089684] Chr5:177204280 [GRCh38]
Chr5:176631281 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.1077del (p.Arg359fs) deletion Sotos syndrome [RCV003231162] Chr5:177204132 [GRCh38]
Chr5:176631133 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.108A>G (p.Gln36=) single nucleotide variant Sotos syndrome [RCV003231163] Chr5:177135211 [GRCh38]
Chr5:176562212 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) single nucleotide variant Inborn genetic diseases [RCV002316937]|Sotos syndrome [RCV003231164]|not provided [RCV003311695]|not specified [RCV000153607] Chr5:177204205 [GRCh38]
Chr5:176631206 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1237-10T>C single nucleotide variant Sotos syndrome [RCV003231166] Chr5:177209626 [GRCh38]
Chr5:176636627 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter) single nucleotide variant Sotos syndrome [RCV003231167] Chr5:177209661 [GRCh38]
Chr5:176636662 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1428G>A (p.Leu476=) single nucleotide variant Sotos syndrome [RCV003231168]|not provided [RCV005089685] Chr5:177209827 [GRCh38]
Chr5:176636828 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.142A>G (p.Met48Val) single nucleotide variant NSD1-related disorder [RCV004751291]|Sotos syndrome [RCV003231169]|not provided [RCV005055609] Chr5:177135245 [GRCh38]
Chr5:176562246 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1456del (p.Ser486fs) deletion Sotos syndrome [RCV003231170] Chr5:177209854 [GRCh38]
Chr5:176636855 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1471G>A (p.Glu491Lys) single nucleotide variant Sotos syndrome [RCV003231171] Chr5:177209870 [GRCh38]
Chr5:176636871 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1495G>A (p.Ala499Thr) single nucleotide variant Inborn genetic diseases [RCV002390304]|Sotos syndrome [RCV003231172]|not provided [RCV001547445]|not specified [RCV000146767] Chr5:177209894 [GRCh38]
Chr5:176636895 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) single nucleotide variant Inborn genetic diseases [RCV002312966]|Sotos syndrome [RCV003231173]|not provided [RCV001719919] Chr5:177209957 [GRCh38]
Chr5:176636958 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) single nucleotide variant Inborn genetic diseases [RCV002312967]|Sotos syndrome [RCV003231174]|not provided [RCV001709497]|not specified [RCV000146769] Chr5:177210089 [GRCh38]
Chr5:176637090 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter) single nucleotide variant Sotos syndrome [RCV003231175]|not provided [RCV000431725] Chr5:177210209 [GRCh38]
Chr5:176637210 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu) single nucleotide variant Inborn genetic diseases [RCV002312649]|Sotos syndrome [RCV003231176]|not provided [RCV005055610]|not specified [RCV000443646] Chr5:177210210 [GRCh38]
Chr5:176637211 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter) single nucleotide variant Sotos syndrome [RCV003231177]|not provided [RCV000294223] Chr5:177210230 [GRCh38]
Chr5:176637231 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) single nucleotide variant Inborn genetic diseases [RCV002316938]|Sotos syndrome [RCV003231178]|not provided [RCV000628607]|not specified [RCV000146773] Chr5:177210379 [GRCh38]
Chr5:176637380 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.2014_2018del (p.Thr672fs) deletion Sotos syndrome [RCV003231179] Chr5:177210410..177210414 [GRCh38]
Chr5:176637411..176637415 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2048del (p.Lys683fs) deletion Sotos syndrome [RCV003231180] Chr5:177210444 [GRCh38]
Chr5:176637445 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs) deletion Sotos syndrome [RCV003231181]|not provided [RCV005089686] Chr5:177210446..177210450 [GRCh38]
Chr5:176637447..176637451 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2064del (p.Arg688fs) deletion Sotos syndrome [RCV003231182] Chr5:177210462 [GRCh38]
Chr5:176637463 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) single nucleotide variant Inborn genetic diseases [RCV002312650]|Sotos syndrome [RCV003231183]|not provided [RCV001573383]|not specified [RCV000146778] Chr5:177210470 [GRCh38]
Chr5:176637471 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.2124_2127del (p.His708fs) deletion Sotos syndrome [RCV003231184] Chr5:177210520..177210523 [GRCh38]
Chr5:176637521..176637524 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) single nucleotide variant Inborn genetic diseases [RCV002312968]|Sotos syndrome [RCV003231185]|not provided [RCV001618298]|not specified [RCV000146780] Chr5:177210568 [GRCh38]
Chr5:176637569 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.2242A>G (p.Asn748Asp) single nucleotide variant not specified [RCV000146781] Chr5:177210641 [GRCh38]
Chr5:176637642 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter) single nucleotide variant Sotos syndrome [RCV003231186] Chr5:177210675 [GRCh38]
Chr5:176637676 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) single nucleotide variant Inborn genetic diseases [RCV002453470]|NSD1-related disorder [RCV003891677]|Sotos syndrome [RCV003231187]|not provided [RCV001697075]|not specified [RCV000146783] Chr5:177210694 [GRCh38]
Chr5:176637695 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_022455.5(NSD1):c.2295del (p.Ser766fs) deletion Sotos syndrome [RCV003231188] Chr5:177210694 [GRCh38]
Chr5:176637695 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter) single nucleotide variant Sotos syndrome [RCV003231189] Chr5:177210738 [GRCh38]
Chr5:176637739 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs) deletion Sotos syndrome [RCV003231190]|not provided [RCV000598943] Chr5:177210782..177210785 [GRCh38]
Chr5:176637783..176637786 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2639del (p.Gly880fs) deletion Sotos syndrome [RCV003231191] Chr5:177211037 [GRCh38]
Chr5:176638038 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2654C>A (p.Ser885Ter) single nucleotide variant Sotos syndrome [RCV003231192] Chr5:177211053 [GRCh38]
Chr5:176638054 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr) single nucleotide variant Inborn genetic diseases [RCV002426704]|Sotos syndrome [RCV003231193]|not provided [RCV000557627]|not specified [RCV000146791] Chr5:177211095 [GRCh38]
Chr5:176638096 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity
NM_022455.5(NSD1):c.2827del (p.Asp943fs) deletion Sotos syndrome [RCV003231194] Chr5:177211223 [GRCh38]
Chr5:176638224 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2925C>T (p.Ser975=) single nucleotide variant Sotos syndrome [RCV003231195] Chr5:177211324 [GRCh38]
Chr5:176638325 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2944G>C (p.Gly982Arg) single nucleotide variant Inborn genetic diseases [RCV002512580]|not specified [RCV000146795] Chr5:177211343 [GRCh38]
Chr5:176638344 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs) microsatellite Inborn genetic diseases [RCV002515968]|Intellectual disability [RCV001257657]|Sotos syndrome [RCV003231196]|not provided [RCV000330545] Chr5:177211351..177211352 [GRCh38]
Chr5:176638352..176638353 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2956del (p.Ala986fs) deletion Sotos syndrome [RCV003231197] Chr5:177211355 [GRCh38]
Chr5:176638356 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) single nucleotide variant Inborn genetic diseases [RCV002433633]|Sotos syndrome [RCV003231198]|not provided [RCV000723914] Chr5:177211399 [GRCh38]
Chr5:176638400 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs) microsatellite Sotos syndrome [RCV003231199] Chr5:177211442..177211443 [GRCh38]
Chr5:176638443..176638444 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter) single nucleotide variant Sotos syndrome [RCV003231200]|not provided [RCV001588994] Chr5:177211466 [GRCh38]
Chr5:176638467 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) single nucleotide variant Inborn genetic diseases [RCV002512581]|Sotos syndrome [RCV003231201]|not provided [RCV000879987]|not specified [RCV000146801] Chr5:177211488 [GRCh38]
Chr5:176638489 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter) single nucleotide variant Sotos syndrome [RCV003231202]|not provided [RCV000443994] Chr5:177211490 [GRCh38]
Chr5:176638491 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) single nucleotide variant Inborn genetic diseases [RCV002312651]|Sotos syndrome [RCV003231203]|not provided [RCV001573348]|not specified [RCV000146803] Chr5:177211505 [GRCh38]
Chr5:176638506 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs) microsatellite Sotos syndrome [RCV003231204] Chr5:177211581..177211582 [GRCh38]
Chr5:176638582..176638583 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter) single nucleotide variant Sotos syndrome [RCV003231205]|not provided [RCV000733891] Chr5:177211613 [GRCh38]
Chr5:176638614 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3271C>A (p.Leu1091Ile) single nucleotide variant Sotos syndrome [RCV003231206]|not provided [RCV005089687]|not specified [RCV000146806] Chr5:177211670 [GRCh38]
Chr5:176638671 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3293del (p.Thr1098fs) deletion Sotos syndrome [RCV003231207] Chr5:177211692 [GRCh38]
Chr5:176638693 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3295del (p.Ser1099fs) deletion Sotos syndrome [RCV003231208] Chr5:177211693 [GRCh38]
Chr5:176638694 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs) microsatellite Sotos syndrome [RCV003231209] Chr5:177211778..177211779 [GRCh38]
Chr5:176638779..176638780 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.339C>T (p.Cys113=) single nucleotide variant Inborn genetic diseases [RCV002316939]|Sotos syndrome [RCV003231210]|not provided [RCV005089688]|not specified [RCV000146811] Chr5:177135442 [GRCh38]
Chr5:176562443 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_022455.5(NSD1):c.352C>G (p.Pro118Ala) single nucleotide variant not provided [RCV005089689]|not specified [RCV000146812] Chr5:177135455 [GRCh38]
Chr5:176562456 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) single nucleotide variant Inborn genetic diseases [RCV002312652]|Sotos syndrome [RCV003231212]|not provided [RCV001704069]|not specified [RCV000146813] Chr5:177211963 [GRCh38]
Chr5:176638964 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3578_3582del (p.Ser1193fs) deletion Sotos syndrome [RCV003231213] Chr5:177211977..177211981 [GRCh38]
Chr5:176638978..176638982 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) microsatellite Beckwith-Wiedemann syndrome [RCV000461609]|Sotos syndrome [RCV003231214]|not provided [RCV001778755] Chr5:177212056..177212057 [GRCh38]
Chr5:176639057..176639058 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr) single nucleotide variant Inborn genetic diseases [RCV002316940]|Sotos syndrome [RCV003231215]|Weaver syndrome [RCV000306825]|not provided [RCV005055611]|not specified [RCV000146816] Chr5:177212121 [GRCh38]
Chr5:176639122 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln) single nucleotide variant NSD1-related disorder [RCV003905270]|Sotos syndrome [RCV003231216]|not provided [RCV005089690]|not specified [RCV000146817] Chr5:177235827 [GRCh38]
Chr5:176662828 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) single nucleotide variant Sotos syndrome [RCV003231217]|not provided [RCV005089691] Chr5:177235863 [GRCh38]
Chr5:176662864 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3888A>G (p.Lys1296=) single nucleotide variant not specified [RCV000146819] Chr5:177235912 [GRCh38]
Chr5:176662913 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.395G>C (p.Cys132Ser) single nucleotide variant NSD1-related disorder [RCV003927435]|not provided [RCV005089692]|not specified [RCV000146820] Chr5:177135498 [GRCh38]
Chr5:176562499 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter) single nucleotide variant Sotos syndrome [RCV003231219]|not provided [RCV000490145] Chr5:177238279 [GRCh38]
Chr5:176665280 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3992A>G (p.Asp1331Gly) single nucleotide variant Sotos syndrome [RCV003231220]|not provided [RCV005089693] Chr5:177238307 [GRCh38]
Chr5:176665308 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter) single nucleotide variant Sotos syndrome [RCV003231221] Chr5:177238372 [GRCh38]
Chr5:176665373 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4062C>T (p.Gly1354=) single nucleotide variant NSD1-related disorder [RCV003945172]|not provided [RCV005089694]|not specified [RCV000146824] Chr5:177238377 [GRCh38]
Chr5:176665378 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter) single nucleotide variant Sotos syndrome [RCV003231222]|not provided [RCV005089695] Chr5:177238391 [GRCh38]
Chr5:176665392 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4192+2T>G single nucleotide variant Inborn genetic diseases [RCV001265843]|Sotos syndrome [RCV003231223] Chr5:177238509 [GRCh38]
Chr5:176665510 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4301del (p.Lys1434fs) deletion Sotos syndrome [RCV003231224]|not provided [RCV000294038] Chr5:177239860 [GRCh38]
Chr5:176666861 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser) single nucleotide variant Inborn genetic diseases [RCV002326856]|Sotos syndrome [RCV003231225]|not provided [RCV005089696] Chr5:177244220 [GRCh38]
Chr5:176671221 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4363A>G (p.Lys1455Glu) single nucleotide variant Sotos syndrome [RCV003231226] Chr5:177244255 [GRCh38]
Chr5:176671256 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4376del (p.Gly1459fs) deletion Sotos syndrome [RCV003231227] Chr5:177244267 [GRCh38]
Chr5:176671268 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4378+1G>A single nucleotide variant Acute myeloid leukemia [RCV000760278]|Sotos syndrome [RCV003231228] Chr5:177244271 [GRCh38]
Chr5:176671272 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.4378+7A>G single nucleotide variant Sotos syndrome [RCV003231229]|not provided [RCV005089697] Chr5:177244277 [GRCh38]
Chr5:176671278 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter) single nucleotide variant Sotos syndrome [RCV003231230]|not provided [RCV003441756] Chr5:177246710 [GRCh38]
Chr5:176673711 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) single nucleotide variant Inborn genetic diseases [RCV001267305]|NSD1-related disorder [RCV003398786]|Sotos syndrome [RCV003231231]|not provided [RCV000492820] Chr5:177246716 [GRCh38]
Chr5:176673717 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4444C>T (p.Gln1482Ter) single nucleotide variant Sotos syndrome [RCV003231232] Chr5:177246743 [GRCh38]
Chr5:176673744 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4493C>G (p.Ser1498Ter) single nucleotide variant Sotos syndrome [RCV003231233] Chr5:177246792 [GRCh38]
Chr5:176673793 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4498-3A>G single nucleotide variant Sotos syndrome [RCV003231234]|not provided [RCV005089698] Chr5:177248178 [GRCh38]
Chr5:176675179 [GRCh37]
Chr5:5q35.3		 pathogenic|uncertain significance
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) single nucleotide variant Inborn genetic diseases [RCV002312653]|Sotos syndrome [RCV003231235]|not provided [RCV003422034]|not specified [RCV000146839] Chr5:177248203 [GRCh38]
Chr5:176675204 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4529del (p.Ser1510fs) deletion Sotos syndrome [RCV003231236] Chr5:177248212 [GRCh38]
Chr5:176675213 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn) single nucleotide variant Inborn genetic diseases [RCV002312969]|Sotos syndrome [RCV003231237]|not provided [RCV001719920]|not specified [RCV000146841] Chr5:177248247 [GRCh38]
Chr5:176675248 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) single nucleotide variant Inborn genetic diseases [RCV002316941]|NSD1-related disorder [RCV003965107]|Sotos syndrome [RCV003231238]|not provided [RCV000340723] Chr5:177248247 [GRCh38]
Chr5:176675248 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) single nucleotide variant Inborn genetic diseases [RCV002316942]|NSD1-related disorder [RCV003917447]|Sotos syndrome [RCV003231239]|Weaver syndrome [RCV000291870]|not provided [RCV003430710]|not specified [RCV000146843] Chr5:177248288 [GRCh38]
Chr5:176675289 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter) single nucleotide variant Sotos syndrome [RCV003231240] Chr5:177251769 [GRCh38]
Chr5:176678770 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4705del (p.Glu1569fs) deletion Sotos syndrome [RCV003231241] Chr5:177251792 [GRCh38]
Chr5:176678793 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4731_4732del (p.Gly1579fs) deletion Sotos syndrome [RCV003231242] Chr5:177251819..177251820 [GRCh38]
Chr5:176678820..176678821 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4745del (p.Ile1582fs) deletion Sotos syndrome [RCV003231243] Chr5:177251833 [GRCh38]
Chr5:176678834 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter) single nucleotide variant Sotos syndrome [RCV003231244]|not provided [RCV000760933] Chr5:177251841 [GRCh38]
Chr5:176678842 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) single nucleotide variant Sotos syndrome [RCV003231245]|not provided [RCV005089699] Chr5:177257002 [GRCh38]
Chr5:176684003 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser) single nucleotide variant Sotos syndrome [RCV003231246] Chr5:177257029 [GRCh38]
Chr5:176684030 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser) single nucleotide variant Sotos syndrome [RCV003231247] Chr5:177257040 [GRCh38]
Chr5:176684041 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly) single nucleotide variant Sotos syndrome [RCV003231248] Chr5:177257040 [GRCh38]
Chr5:176684041 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr) single nucleotide variant Sotos syndrome [RCV003231249]|not provided [RCV000861806]|not specified [RCV000146853] Chr5:177257068 [GRCh38]
Chr5:176684069 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe) single nucleotide variant Inborn genetic diseases [RCV002336291]|Sotos syndrome [RCV003231250] Chr5:177257092 [GRCh38]
Chr5:176684093 [GRCh37]
Chr5:5q35.3		 pathogenic|uncertain significance
NM_022455.5(NSD1):c.4966+15T>C single nucleotide variant Sotos syndrome [RCV003231251]|not provided [RCV005089700] Chr5:177257166 [GRCh38]
Chr5:176684167 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4966+1G>A single nucleotide variant See cases [RCV002254683]|Sotos syndrome [RCV003231252] Chr5:177257152 [GRCh38]
Chr5:176684153 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4966G>T (p.Gly1656Cys) single nucleotide variant Sotos syndrome [RCV003231253] Chr5:177257151 [GRCh38]
Chr5:176684152 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4967-2A>T single nucleotide variant Sotos syndrome [RCV003231254] Chr5:177259987 [GRCh38]
Chr5:176686988 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys) single nucleotide variant Sotos syndrome [RCV003231255]|not provided [RCV001753524] Chr5:177260009 [GRCh38]
Chr5:176687010 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr) single nucleotide variant Sotos syndrome [RCV003231256] Chr5:177260043 [GRCh38]
Chr5:176687044 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=) single nucleotide variant Inborn genetic diseases [RCV002336292]|Sotos syndrome [RCV003231257]|not provided [RCV001651000]|not specified [RCV000146862] Chr5:177260104 [GRCh38]
Chr5:176687105 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter) single nucleotide variant Sotos syndrome [RCV003231258]|not provided [RCV001823116] Chr5:177260120 [GRCh38]
Chr5:176687121 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5141C>G (p.Ser1714Ter) single nucleotide variant Sotos syndrome [RCV003231259] Chr5:177260163 [GRCh38]
Chr5:176687164 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5146+1G>A single nucleotide variant Sotos syndrome [RCV003231260]|not provided [RCV005089701] Chr5:177260169 [GRCh38]
Chr5:176687170 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr) single nucleotide variant Sotos syndrome [RCV003231261] Chr5:177267613 [GRCh38]
Chr5:176694614 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5303+1G>C single nucleotide variant Sotos syndrome [RCV003231262]|not provided [RCV005208700] Chr5:177267719 [GRCh38]
Chr5:176694720 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.5309G>A (p.Trp1770Ter) single nucleotide variant Sotos syndrome [RCV003231263]|not provided [RCV000760587] Chr5:177269607 [GRCh38]
Chr5:176696608 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5375G>A (p.Gly1792Glu) single nucleotide variant Sotos syndrome [RCV003231264] Chr5:177269673 [GRCh38]
Chr5:176696674 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5390T>C (p.Leu1797Pro) single nucleotide variant Sotos syndrome [RCV003231265] Chr5:177269688 [GRCh38]
Chr5:176696689 [GRCh37]
Chr5:5q35.3		 likely pathogenic
GRCh38/hg38 5q35.3(chr5:177239706-177291908)x1 copy number loss See cases [RCV000135296] Chr5:177239706..177291908 [GRCh38]
Chr5:176666707..176718909 [GRCh37]
Chr5:176599313..176651515 [NCBI36]
Chr5:5q35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3 copy number gain See cases [RCV000138817] Chr5:177261458..177651722 [GRCh38]
Chr5:176688459..177078723 [GRCh37]
Chr5:176621065..177011329 [NCBI36]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) single nucleotide variant Inborn genetic diseases [RCV003298220]|Sotos syndrome [RCV003231357]|not provided [RCV000175364] Chr5:177280577 [GRCh38]
Chr5:176707578 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 5q35.3(chr5:177118445-177374609)x3 copy number gain See cases [RCV000141324] Chr5:177118445..177374609 [GRCh38]
Chr5:176545446..176801610 [GRCh37]
Chr5:176478052..176734216 [NCBI36]
Chr5:5q35.3		 likely pathogenic
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 copy number loss See cases [RCV000142365] Chr5:175989092..178009412 [GRCh38]
Chr5:175416095..177436413 [GRCh37]
Chr5:175348701..177369019 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 copy number loss See cases [RCV000142510] Chr5:176132340..177995759 [GRCh38]
Chr5:175559343..177422760 [GRCh37]
Chr5:175491949..177355366 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 copy number loss See cases [RCV000142047] Chr5:176291838..178662699 [GRCh38]
Chr5:175718841..178089700 [GRCh37]
Chr5:175651447..178022306 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1 copy number loss See cases [RCV000142538] Chr5:176517339..177709289 [GRCh38]
Chr5:175944340..177136290 [GRCh37]
Chr5:175876946..177068896 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1 copy number loss See cases [RCV000143463] Chr5:176143674..178009412 [GRCh38]
Chr5:175570677..177436413 [GRCh37]
Chr5:175503283..177369019 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.153G>A (p.Ser51=) single nucleotide variant not provided [RCV000153606] Chr5:177135256 [GRCh38]
Chr5:176562257 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2103G>A (p.Lys701=) single nucleotide variant not provided [RCV000153608] Chr5:177210502 [GRCh38]
Chr5:176637503 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3355C>G (p.Pro1119Ala) single nucleotide variant not provided [RCV000153610] Chr5:177211754 [GRCh38]
Chr5:176638755 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4804G>A (p.Asp1602Asn) single nucleotide variant not provided [RCV000153611] Chr5:177256989 [GRCh38]
Chr5:176683990 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr) single nucleotide variant Sotos syndrome [RCV003231346]|not provided [RCV000153613] Chr5:177295439 [GRCh38]
Chr5:176722440 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter) single nucleotide variant Sotos syndrome [RCV003231367]|not provided [RCV003441773] Chr5:177282522 [GRCh38]
Chr5:176709523 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7966C>T (p.Gln2656Ter) single nucleotide variant Sotos syndrome [RCV003231368] Chr5:177295334 [GRCh38]
Chr5:176722335 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3548_3549del (p.Asn1182_Ser1183insTer) microsatellite not provided [RCV000254944] Chr5:177211945..177211946 [GRCh38]
Chr5:176638946..176638947 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.2765C>T (p.Thr922Met) single nucleotide variant not provided [RCV000178984] Chr5:177211164 [GRCh38]
Chr5:176638165 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe) single nucleotide variant NSD1-related disorder [RCV004751342]|not provided [RCV000178985] Chr5:177211782 [GRCh38]
Chr5:176638783 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) single nucleotide variant NSD1-related disorder [RCV003977469]|Sotos syndrome [RCV003231360]|Weaver syndrome [RCV000363481]|not provided [RCV000178986] Chr5:177211793 [GRCh38]
Chr5:176638794 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=) single nucleotide variant not provided [RCV000178987] Chr5:177212161 [GRCh38]
Chr5:176639162 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3110A>G (p.Gln1037Arg) single nucleotide variant not provided [RCV000178989] Chr5:177211509 [GRCh38]
Chr5:176638510 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) indel Beckwith-Wiedemann syndrome [RCV000690126]|Sotos syndrome [RCV003231362]|not provided [RCV000178992] Chr5:177211955..177211956 [GRCh38]
Chr5:176638956..176638957 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1635G>A (p.Thr545=) single nucleotide variant Inborn genetic diseases [RCV002399638]|NSD1-related disorder [RCV003895201]|not provided [RCV000178993] Chr5:177210034 [GRCh38]
Chr5:176637035 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4303-4A>G single nucleotide variant Sotos syndrome [RCV003231365]|not provided [RCV000723978] Chr5:177244191 [GRCh38]
Chr5:176671192 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) single nucleotide variant Hereditary cancer [RCV003491929]|Inborn genetic diseases [RCV002362897]|NSD1-related disorder [RCV004751336]|Sotos syndrome [RCV003231358]|not provided [RCV000176423] Chr5:177294255 [GRCh38]
Chr5:176721256 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1743del (p.Glu581fs) deletion Sotos syndrome [RCV003231366] Chr5:177210141 [GRCh38]
Chr5:176637142 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) single nucleotide variant Sotos syndrome [RCV003231450]|Weaver syndrome [RCV000373929]|not provided [RCV001281556] Chr5:177244199 [GRCh38]
Chr5:176671200 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.4(NSD1):c.*1177G>A single nucleotide variant Sotos syndrome [RCV000355146]|Weaver syndrome [RCV000262143] Chr5:177296636 [GRCh38]
Chr5:176723637 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.2208T>C (p.Ser736=) single nucleotide variant Sotos syndrome [RCV000355339]|Weaver syndrome [RCV000265239] Chr5:177210607 [GRCh38]
Chr5:176637608 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.2194G>T (p.Asp732Tyr) single nucleotide variant Sotos syndrome [RCV000300459]|Weaver syndrome [RCV000259381] Chr5:177210593 [GRCh38]
Chr5:176637594 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*4459G>T single nucleotide variant Sotos syndrome [RCV000262926]|Weaver syndrome [RCV000320629] Chr5:177299918 [GRCh38]
Chr5:176726919 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*2185A>G single nucleotide variant Sotos syndrome [RCV000301846]|Weaver syndrome [RCV000263153] Chr5:177297644 [GRCh38]
Chr5:176724645 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.4(NSD1):c.*4344C>T single nucleotide variant Sotos syndrome [RCV000259459]|Weaver syndrome [RCV000370499] Chr5:177299803 [GRCh38]
Chr5:176726804 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6542_6544dup (p.Ser2181_Phe2182insSer) duplication Sotos syndrome [RCV003231400] Chr5:177293907..177293908 [GRCh38]
Chr5:176720908..176720909 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.-8G>A single nucleotide variant NSD1-related disorder [RCV003891764]|Sotos syndrome [RCV003231370]|not specified [RCV000192971] Chr5:177135096 [GRCh38]
Chr5:176562097 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3939dup (p.Glu1314fs) duplication Sotos syndrome [RCV003231382] Chr5:177238252..177238253 [GRCh38]
Chr5:176665253..176665254 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3316dup (p.Ser1106fs) duplication Sotos syndrome [RCV003231379] Chr5:177211710..177211711 [GRCh38]
Chr5:176638711..176638712 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7783A>T (p.Lys2595Ter) single nucleotide variant Sotos syndrome [RCV003231401] Chr5:177295151 [GRCh38]
Chr5:176722152 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2859dup (p.Lys954Ter) duplication Sotos syndrome [RCV003231376] Chr5:177211257..177211258 [GRCh38]
Chr5:176638258..176638259 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6344dup (p.Glu2116fs) duplication Sotos syndrome [RCV003231398] Chr5:177292036..177292037 [GRCh38]
Chr5:176719037..176719038 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6218dup (p.Ala2074fs) duplication Sotos syndrome [RCV003231395] Chr5:177288883..177288884 [GRCh38]
Chr5:176715884..176715885 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4301dup (p.Cys1435fs) duplication Sotos syndrome [RCV003231385] Chr5:177239859..177239860 [GRCh38]
Chr5:176666860..176666861 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4732dup (p.Arg1578fs) duplication Sotos syndrome [RCV003231387] Chr5:177251818..177251819 [GRCh38]
Chr5:176678819..176678820 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.2167dup (p.Thr723fs) duplication Sotos syndrome [RCV003231374] Chr5:177210564..177210565 [GRCh38]
Chr5:176637565..176637566 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6290dup (p.Lys2098fs) duplication Sotos syndrome [RCV003231396] Chr5:177291982..177291983 [GRCh38]
Chr5:176718983..176718984 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1264dup (p.Glu422fs) duplication Sotos syndrome [RCV003231372] Chr5:177209660..177209661 [GRCh38]
Chr5:176636661..176636662 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6094_6095dup (p.Trp2032fs) duplication Sotos syndrome [RCV003231393] Chr5:177283869..177283870 [GRCh38]
Chr5:176710870..176710871 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5407_5410dup (p.Tyr1804Ter) duplication Sotos syndrome [RCV003231390] Chr5:177269703..177269704 [GRCh38]
Chr5:176696704..176696705 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3146dup (p.Thr1050fs) duplication Sotos syndrome [RCV003231377] Chr5:177211542..177211543 [GRCh38]
Chr5:176638543..176638544 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000195430] Chr5:177210749 [GRCh38]
Chr5:176637750 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.5304-1G>C single nucleotide variant Sotos syndrome [RCV003231402] Chr5:177269601 [GRCh38]
Chr5:176696602 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.1805G>A (p.Cys602Tyr) single nucleotide variant not specified [RCV000194128] Chr5:177210204 [GRCh38]
Chr5:176637205 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4020del (p.Glu1341fs) deletion Sotos syndrome [RCV003231383] Chr5:177238334 [GRCh38]
Chr5:176665335 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter) duplication Sotos syndrome [RCV003231380]|not provided [RCV000414581] Chr5:177211947..177211948 [GRCh38]
Chr5:176638948..176638949 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.4882_4883insAA (p.Met1628fs) insertion Sotos syndrome [RCV003231388] Chr5:177257066..177257067 [GRCh38]
Chr5:176684067..176684068 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4479_4488dup (p.Gly1497fs) duplication Sotos syndrome [RCV003231386] Chr5:177246776..177246777 [GRCh38]
Chr5:176673777..176673778 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5790dup (p.Cys1931fs) duplication Sotos syndrome [RCV003231391] Chr5:177280731..177280732 [GRCh38]
Chr5:176707732..176707733 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs) deletion Sotos syndrome [RCV003231378] Chr5:177211658..177211664 [GRCh38]
Chr5:176638659..176638665 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2190_2191delinsG (p.Ser731fs) indel Sotos syndrome [RCV003231375] Chr5:177210589..177210590 [GRCh38]
Chr5:176637590..176637591 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6307_6308insTGTGC (p.Gln2103fs) insertion Sotos syndrome [RCV003231397] Chr5:177292000..177292001 [GRCh38]
Chr5:176719001..176719002 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1802dup (p.Cys602fs) duplication Sotos syndrome [RCV003231373] Chr5:177210198..177210199 [GRCh38]
Chr5:176637199..176637200 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6112dup (p.Thr2038fs) duplication Sotos syndrome [RCV003231394] Chr5:177283888..177283889 [GRCh38]
Chr5:176710889..176710890 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4282dup (p.Asp1428fs) duplication Sotos syndrome [RCV003231384] Chr5:177239840..177239841 [GRCh38]
Chr5:176666841..176666842 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3578dup (p.Ser1193fs) duplication Sotos syndrome [RCV003231381] Chr5:177211976..177211977 [GRCh38]
Chr5:176638977..176638978 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.4(NSD1):c.(?_-138)_(7458_?)del deletion Sotos syndrome [RCV003231371] Chr5:5q35.3 pathogenic
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) single nucleotide variant Inborn genetic diseases [RCV002354542]|Sotos syndrome [RCV003231392]|not provided [RCV005089984] Chr5:177282562 [GRCh38]
Chr5:176709563 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.4(NSD1):c.5408_5411delACTAins9 indel Sotos syndrome [RCV003231389] Chr5:177269706..177269709 [GRCh38]
Chr5:176696707..176696710 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.6459_6463+5del deletion Sotos syndrome [RCV003231399] Chr5:177292154..177292163 [GRCh38]
Chr5:176719155..176719164 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1288C>T (p.Gln430Ter) single nucleotide variant not provided [RCV000296990] Chr5:177209687 [GRCh38]
Chr5:176636688 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) single nucleotide variant Inborn genetic diseases [RCV002446512]|Sotos syndrome [RCV003231429]|not provided [RCV000374947] Chr5:177210665 [GRCh38]
Chr5:176637666 [GRCh37]
Chr5:5q35.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5892+1G>T single nucleotide variant not provided [RCV000255457] Chr5:177280835 [GRCh38]
Chr5:176707836 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3387_3389delinsGG (p.Phe1129fs) indel not provided [RCV000255592] Chr5:177211786..177211788 [GRCh38]
Chr5:176638787..176638789 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4771C>T (p.His1591Tyr) single nucleotide variant Sotos syndrome [RCV003231534] Chr5:177256956 [GRCh38]
Chr5:176683957 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter) single nucleotide variant Sotos syndrome [RCV003231535] Chr5:177211437 [GRCh38]
Chr5:176638438 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.7753G>A (p.Gly2585Arg) single nucleotide variant not provided [RCV000224225] Chr5:177295121 [GRCh38]
Chr5:176722122 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.708G>C (p.Gln236His) single nucleotide variant Sotos syndrome [RCV003231408]|not provided [RCV000224323] Chr5:177135811 [GRCh38]
Chr5:176562812 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4918T>A (p.Cys1640Ser) single nucleotide variant not provided [RCV000224424] Chr5:177257103 [GRCh38]
Chr5:176684104 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5382C>T (p.Phe1794=) single nucleotide variant not provided [RCV005208913] Chr5:177269680 [GRCh38]
Chr5:176696681 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs) insertion Beckwith-Wiedemann syndrome [RCV000231883]|Sotos syndrome [RCV003231412] Chr5:177211947..177211948 [GRCh38]
Chr5:176638948..176638949 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5994del (p.Met1998fs) deletion Beckwith-Wiedemann syndrome [RCV000231983]|Sotos syndrome [RCV003231414] Chr5:177282566 [GRCh38]
Chr5:176709567 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu) single nucleotide variant Inborn genetic diseases [RCV002444922]|NSD1-related disorder [RCV003955368]|Sotos syndrome [RCV003231410]|not provided [RCV001682943]|not specified [RCV001820761] Chr5:177210738 [GRCh38]
Chr5:176637739 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.2340G>A (p.Ser780=) single nucleotide variant NSD1-related disorder [RCV003907892]|not provided [RCV005208971] Chr5:177210739 [GRCh38]
Chr5:176637740 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6537dup (p.Ser2180fs) duplication Sotos syndrome [RCV003231416] Chr5:177293901..177293902 [GRCh38]
Chr5:176720902..176720903 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.72C>T (p.Ala24=) single nucleotide variant Inborn genetic diseases [RCV002379070]|NSD1-related disorder [RCV003897582]|Sotos syndrome [RCV003231419]|not provided [RCV000924126]|not specified [RCV000238736] Chr5:177135175 [GRCh38]
Chr5:176562176 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.3451_3452del (p.Val1151fs) microsatellite Inborn genetic diseases [RCV000622888] Chr5:177211848..177211849 [GRCh38]
Chr5:176638849..176638850 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1702_1703insAG (p.Phe568Ter) insertion Inborn genetic diseases [RCV000623218] Chr5:177210101..177210102 [GRCh38]
Chr5:176637102..176637103 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4756T>C (p.Cys1586Arg) single nucleotide variant Inborn genetic diseases [RCV000623222] Chr5:177251844 [GRCh38]
Chr5:176678845 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5154C>G (p.Ser1718Arg) single nucleotide variant not provided [RCV005057327] Chr5:177267569 [GRCh38]
Chr5:176694570 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1873G>T (p.Gly625Ter) single nucleotide variant Sotos syndrome [RCV003232063] Chr5:177210272 [GRCh38]
Chr5:176637273 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7421A>C (p.Gln2474Pro) single nucleotide variant Sotos syndrome [RCV003231425]|not provided [RCV005090269]|not specified [RCV000245993] Chr5:177294789 [GRCh38]
Chr5:176721790 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.1236+17G>A single nucleotide variant not provided [RCV005090266]|not specified [RCV000250889] Chr5:177204309 [GRCh38]
Chr5:176631310 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*3279G>T single nucleotide variant Sotos syndrome [RCV000335725]|Weaver syndrome [RCV000278433] Chr5:177298738 [GRCh38]
Chr5:176725739 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*407G>A single nucleotide variant Sotos syndrome [RCV000278375]|Weaver syndrome [RCV000316998] Chr5:177295866 [GRCh38]
Chr5:176722867 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*4027T>C single nucleotide variant Sotos syndrome [RCV000283834]|Weaver syndrome [RCV000341136] Chr5:177299486 [GRCh38]
Chr5:176726487 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3649C>T (p.Pro1217Ser) single nucleotide variant Sotos syndrome [RCV003231448]|not provided [RCV005090573] Chr5:177212048 [GRCh38]
Chr5:176639049 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.4(NSD1):c.*2395T>C single nucleotide variant Sotos syndrome [RCV000270376]|Weaver syndrome [RCV000328994] Chr5:177297854 [GRCh38]
Chr5:176724855 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1317C>T (p.Asn439=) single nucleotide variant Sotos syndrome [RCV003231614]|not provided [RCV001707595]|not specified [RCV000246284] Chr5:177209716 [GRCh38]
Chr5:176636717 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4091G>T (p.Gly1364Val) single nucleotide variant not provided [RCV005056134] Chr5:177238406 [GRCh38]
Chr5:176665407 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.3502A>T (p.Thr1168Ser) single nucleotide variant Sotos syndrome [RCV000274509]|Weaver syndrome [RCV000329732] Chr5:177211901 [GRCh38]
Chr5:176638902 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2731C>T (p.Leu911=) single nucleotide variant not specified [RCV000244187] Chr5:177211130 [GRCh38]
Chr5:176638131 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5303+37C>A single nucleotide variant not specified [RCV000244320] Chr5:177267755 [GRCh38]
Chr5:176694756 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2776C>A (p.Arg926=) single nucleotide variant Inborn genetic diseases [RCV002317788]|not provided [RCV005090267]|not specified [RCV000249149] Chr5:177211175 [GRCh38]
Chr5:176638176 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.7275A>G (p.Leu2425=) single nucleotide variant Sotos syndrome [RCV003231424]|not provided [RCV005090268]|not specified [RCV000254186] Chr5:177294643 [GRCh38]
Chr5:176721644 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.927+48A>G single nucleotide variant not provided [RCV001675758]|not specified [RCV000242175] Chr5:177136078 [GRCh38]
Chr5:176563079 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.7161G>A (p.Pro2387=) single nucleotide variant not specified [RCV000249398] Chr5:177294529 [GRCh38]
Chr5:176721530 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=) single nucleotide variant Inborn genetic diseases [RCV002321934]|Sotos syndrome [RCV003231420]|not provided [RCV001532055]|not specified [RCV000249432] Chr5:177211729 [GRCh38]
Chr5:176638730 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.480C>T (p.Asp160=) single nucleotide variant Inborn genetic diseases [RCV002338808]|NSD1-related disorder [RCV003891966]|Sotos syndrome [RCV003231421]|not provided [RCV001683108]|not specified [RCV000242375] Chr5:177135583 [GRCh38]
Chr5:176562584 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_022455.5(NSD1):c.4966+43G>A single nucleotide variant not provided [RCV004705115]|not specified [RCV000247363] Chr5:177257194 [GRCh38]
Chr5:176684195 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5147-49A>C single nucleotide variant not provided [RCV001548101]|not specified [RCV000252333] Chr5:177267513 [GRCh38]
Chr5:176694514 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4192+16G>T single nucleotide variant not specified [RCV000245128] Chr5:177238523 [GRCh38]
Chr5:176665524 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs) duplication Beckwith-Wiedemann syndrome [RCV000547744]|Sotos syndrome [RCV003231636] Chr5:177238281..177238282 [GRCh38]
Chr5:176665282..176665283 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5623-22G>A single nucleotide variant Sotos syndrome [RCV003231422]|not provided [RCV001711730]|not specified [RCV000247684] Chr5:177280543 [GRCh38]
Chr5:176707544 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4378+26C>T single nucleotide variant Sotos syndrome [RCV003231615]|not provided [RCV001610732]|not specified [RCV000250093] Chr5:177244296 [GRCh38]
Chr5:176671297 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.5712C>T (p.Pro1904=) single nucleotide variant Sotos syndrome [RCV003231423]|not provided [RCV001683109]|not specified [RCV000252642] Chr5:177280654 [GRCh38]
Chr5:176707655 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.4(NSD1):c.*3495A>G single nucleotide variant Sotos syndrome [RCV000307609]|Weaver syndrome [RCV000268869] Chr5:177298954 [GRCh38]
Chr5:176725955 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1237-37del deletion not specified [RCV000242882] Chr5:177209597 [GRCh38]
Chr5:176636598 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.8022G>A (p.Glu2674=) single nucleotide variant not provided [RCV005090270]|not specified [RCV000250413] Chr5:177295390 [GRCh38]
Chr5:176722391 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.4(NSD1):c.*3827T>C single nucleotide variant Sotos syndrome [RCV000276655]|Weaver syndrome [RCV000334217] Chr5:177299286 [GRCh38]
Chr5:176726287 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7955C>T (p.Ala2652Val) single nucleotide variant not specified [RCV000245666] Chr5:177295323 [GRCh38]
Chr5:176722324 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3796+22A>T single nucleotide variant not provided [RCV004706740]|not specified [RCV000253137] Chr5:177212217 [GRCh38]
Chr5:176639218 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*209G>T single nucleotide variant Sotos syndrome [RCV000272794]|Weaver syndrome [RCV000327938] Chr5:177295668 [GRCh38]
Chr5:176722669 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*3542T>C single nucleotide variant Sotos syndrome [RCV000364585]|Weaver syndrome [RCV000273146] Chr5:177299001 [GRCh38]
Chr5:176726002 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.4(NSD1):c.*1116G>A single nucleotide variant Sotos syndrome [RCV000316765]|Weaver syndrome [RCV000277925] Chr5:177296575 [GRCh38]
Chr5:177296575..177296576 [GRCh38]
Chr5:176723576 [GRCh37]
Chr5:176723576..176723577 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*2160A>C single nucleotide variant Sotos syndrome [RCV000355615]|Weaver syndrome [RCV000298163] Chr5:177297619 [GRCh38]
Chr5:176724620 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met) single nucleotide variant Inborn genetic diseases [RCV004955458]|NSD1-related disorder [RCV004751492]|Sotos syndrome [RCV003231449]|not provided [RCV001561303] Chr5:177238502 [GRCh38]
Chr5:176665503 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.2170G>A (p.Glu724Lys) single nucleotide variant Sotos syndrome [RCV003231445]|Weaver syndrome [RCV000404571]|not provided [RCV005090572] Chr5:177210569 [GRCh38]
Chr5:176637570 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*3291A>G single nucleotide variant Sotos syndrome [RCV000392089]|Weaver syndrome [RCV000300558] Chr5:177298750 [GRCh38]
Chr5:176725751 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=) single nucleotide variant Inborn genetic diseases [RCV002392916]|Sotos syndrome [RCV003231454]|not provided [RCV001653695] Chr5:177294943 [GRCh38]
Chr5:176721944 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.7350T>C (p.Asn2450=) single nucleotide variant Inborn genetic diseases [RCV002379242]|Sotos syndrome [RCV003231453]|not provided [RCV005208915] Chr5:177294718 [GRCh38]
Chr5:176721719 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.4(NSD1):c.*4360T>G single nucleotide variant Sotos syndrome [RCV000317031]|Weaver syndrome [RCV000355408] Chr5:177299819 [GRCh38]
Chr5:176726820 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*3920C>T single nucleotide variant Sotos syndrome [RCV000337751]|Weaver syndrome [RCV000375462] Chr5:177299379 [GRCh38]
Chr5:176726380 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*3340T>C single nucleotide variant Sotos syndrome [RCV000304159]|Weaver syndrome [RCV000360957] Chr5:177298799 [GRCh38]
Chr5:176725800 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*1220T>C single nucleotide variant Sotos syndrome [RCV000319722]|Weaver syndrome [RCV000376708] Chr5:177296679 [GRCh38]
Chr5:176723680 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.4(NSD1):c.*3338A>C single nucleotide variant Sotos syndrome [RCV000339104]|Weaver syndrome [RCV000403521] Chr5:177298797 [GRCh38]
Chr5:176725798 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.4(NSD1):c.*800G>A single nucleotide variant Sotos syndrome [RCV000339167]|Weaver syndrome [RCV000391669] Chr5:177296259 [GRCh38]
Chr5:176723260 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3133C>T (p.Arg1045Cys) single nucleotide variant not provided [RCV005098944] Chr5:177211532 [GRCh38]
Chr5:176638533 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.4(NSD1):c.2251C>G (p.Leu751Val) single nucleotide variant Sotos syndrome [RCV000379411]|Weaver syndrome [RCV000320314] Chr5:177210650 [GRCh38]
Chr5:176637651 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*1542A>G single nucleotide variant Sotos syndrome [RCV000288321]|Weaver syndrome [RCV000380455] Chr5:177297001 [GRCh38]
Chr5:176724002 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*4033G>A single nucleotide variant Sotos syndrome [RCV000306034]|Weaver syndrome [RCV000392679] Chr5:177299492 [GRCh38]
Chr5:176726493 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1035G>A (p.Pro345=) single nucleotide variant not provided [RCV005098855] Chr5:177191991 [GRCh38]
Chr5:176618992 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6990C>T (p.Ser2330=) single nucleotide variant not provided [RCV005183406] Chr5:177294358 [GRCh38]
Chr5:176721359 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.4(NSD1):c.*4175G>A single nucleotide variant Sotos syndrome [RCV000392692]|Weaver syndrome [RCV000344565] Chr5:177299634 [GRCh38]
Chr5:176726635 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.4(NSD1):c.*1597G>A single nucleotide variant Sotos syndrome [RCV000406784]|Weaver syndrome [RCV000345664] Chr5:177297056 [GRCh38]
Chr5:176724057 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.7025C>T (p.Ser2342Leu) single nucleotide variant Sotos syndrome [RCV003231452]|not provided [RCV000762247] Chr5:177294393 [GRCh38]
Chr5:176721394 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3540A>G (p.Lys1180=) single nucleotide variant not provided [RCV003430906] Chr5:177211939 [GRCh38]
Chr5:176638940 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.4(NSD1):c.*946C>T single nucleotide variant Sotos syndrome [RCV000405086]|Weaver syndrome [RCV000309564] Chr5:177296405 [GRCh38]
Chr5:176723406 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*4199T>G single nucleotide variant Sotos syndrome [RCV000309513]|Weaver syndrome [RCV000366937] Chr5:177299658 [GRCh38]
Chr5:176726659 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.658G>T (p.Gly220Cys) single nucleotide variant not provided [RCV001092132] Chr5:177135761 [GRCh38]
Chr5:176562762 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*1870G>A single nucleotide variant Sotos syndrome [RCV000370285]|Weaver syndrome [RCV000404436] Chr5:177297329 [GRCh38]
Chr5:176724330 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.*4611del deletion Sotos syndrome [RCV003231462]|Weaver syndrome [RCV000297338] Chr5:177300058 [GRCh38]
Chr5:176727059 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5007C>T (p.His1669=) single nucleotide variant not provided [RCV001551099] Chr5:177260029 [GRCh38]
Chr5:176687030 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.4(NSD1):c.*1053C>A single nucleotide variant Sotos syndrome [RCV000313003]|Weaver syndrome [RCV000370191] Chr5:177296512 [GRCh38]
Chr5:176723513 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*4331C>G single nucleotide variant Sotos syndrome [RCV000390624]|Weaver syndrome [RCV000313448] Chr5:177299790 [GRCh38]
Chr5:176726791 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*1717G>A single nucleotide variant Sotos syndrome [RCV000406794]|Weaver syndrome [RCV000313238] Chr5:177297176 [GRCh38]
Chr5:176724177 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2601C>A (p.Leu867=) single nucleotide variant not provided [RCV005055922] Chr5:177211000 [GRCh38]
Chr5:176638001 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.4(NSD1):c.*3141G>A single nucleotide variant Sotos syndrome [RCV000351019]|Weaver syndrome [RCV000389209] Chr5:177298600 [GRCh38]
Chr5:176725601 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6152-1G>A single nucleotide variant not provided [RCV000288274] Chr5:177288818 [GRCh38]
Chr5:176715819 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.4(NSD1):c.-134C>T single nucleotide variant Sotos syndrome [RCV000363035]|Weaver syndrome [RCV000270909] Chr5:177133836 [GRCh38]
Chr5:176560837 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.*565del deletion Sotos syndrome [RCV003231456]|Weaver syndrome [RCV000281826] Chr5:177296024 [GRCh38]
Chr5:176723025 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.*4596del deletion Sotos syndrome [RCV003231460]|Weaver syndrome [RCV000282105] Chr5:177300055 [GRCh38]
Chr5:176727056 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6440dup (p.Asn2148fs) duplication not provided [RCV000291827] Chr5:177292134..177292135 [GRCh38]
Chr5:176719135..176719136 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4658del (p.Gly1553fs) deletion not provided [RCV000299621] Chr5:177251744 [GRCh38]
Chr5:176678745 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2163_2169del (p.Gly722fs) deletion not provided [RCV000297671] Chr5:177210560..177210566 [GRCh38]
Chr5:176637561..176637567 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5021G>C (p.Cys1674Ser) single nucleotide variant not provided [RCV000308013] Chr5:177260043 [GRCh38]
Chr5:176687044 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg) single nucleotide variant Inborn genetic diseases [RCV004021114]|Sotos syndrome [RCV003231430]|not provided [RCV000380737] Chr5:177295416 [GRCh38]
Chr5:176722417 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.*4610_*4611dup duplication Sotos syndrome [RCV003231463]|Weaver syndrome [RCV000272331] Chr5:177300057..177300058 [GRCh38]
Chr5:176727058..176727059 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3657A>G (p.Thr1219=) single nucleotide variant not provided [RCV003430021] Chr5:177212056 [GRCh38]
Chr5:176639057 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.2108del (p.Leu703fs) deletion not provided [RCV000310036] Chr5:177210507 [GRCh38]
Chr5:176637508 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3382dup (p.Ser1128fs) duplication Inborn genetic diseases [RCV004955384]|not provided [RCV000310435] Chr5:177211780..177211781 [GRCh38]
Chr5:176638781..176638782 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.243G>C (p.Met81Ile) single nucleotide variant Sotos syndrome [RCV003231431]|not provided [RCV000385018] Chr5:177135346 [GRCh38]
Chr5:176562347 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7632C>T (p.Ala2544=) single nucleotide variant NSD1-related disorder [RCV004751420]|not provided [RCV000386423] Chr5:177295000 [GRCh38]
Chr5:176722001 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.*216CCAA[1] microsatellite Sotos syndrome [RCV003231455]|Weaver syndrome [RCV000274897] Chr5:177295675..177295678 [GRCh38]
Chr5:176722676..176722679 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3631_3632delinsA (p.Ala1211fs) indel not provided [RCV000343396] Chr5:177212030..177212031 [GRCh38]
Chr5:176639031..176639032 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) single nucleotide variant NSD1-related disorder [RCV003909902]|Sotos syndrome [RCV003231427]|not provided [RCV000345429] Chr5:177280796 [GRCh38]
Chr5:176707797 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.2309G>T (p.Gly770Val) single nucleotide variant not provided [RCV000388527] Chr5:177210708 [GRCh38]
Chr5:176637709 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3581_3582delinsG (p.Asp1194fs) indel not provided [RCV000347430] Chr5:177211980..177211981 [GRCh38]
Chr5:176638981..176638982 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5842C>T (p.Arg1948Cys) single nucleotide variant not provided [RCV000366914] Chr5:177280784 [GRCh38]
Chr5:176707785 [GRCh37]
Chr5:5q35.3		 pathogenic|uncertain significance
NM_022455.5(NSD1):c.1063+10dup duplication Sotos syndrome [RCV003231444]|Weaver syndrome [RCV000276924]|not provided [RCV005090571] Chr5:177192028..177192029 [GRCh38]
Chr5:176619029..176619030 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.3931C>T (p.Arg1311Cys) single nucleotide variant Inborn genetic diseases [RCV002357560] Chr5:177238246 [GRCh38]
Chr5:176665247 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter) single nucleotide variant Sotos syndrome [RCV003231426]|not provided [RCV000385095] Chr5:177273743 [GRCh38]
Chr5:176700744 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp) single nucleotide variant Sotos syndrome [RCV003231433]|not provided [RCV000398185] Chr5:177212096 [GRCh38]
Chr5:176639097 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.4(NSD1):c.*2281T>G single nucleotide variant Sotos syndrome [RCV000359032]|Weaver syndrome [RCV000266777] Chr5:177297740 [GRCh38]
Chr5:176724741 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5943del (p.Glu1980_Cys1981insTer) deletion not provided [RCV000393213] Chr5:177282515 [GRCh38]
Chr5:176709516 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1212_1213del (p.Lys405fs) deletion not provided [RCV000388538] Chr5:177204267..177204268 [GRCh38]
Chr5:176631268..176631269 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2725A>G (p.Thr909Ala) single nucleotide variant Sotos syndrome [RCV005035470]|not provided [RCV005112886] Chr5:177211124 [GRCh38]
Chr5:176638125 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile) single nucleotide variant Sotos syndrome [RCV003231432]|not provided [RCV005208965]|not specified [RCV000333896] Chr5:177257043 [GRCh38]
Chr5:176684044 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.*4609_*4611del deletion Sotos syndrome [RCV003231465]|Weaver syndrome [RCV000268652] Chr5:177300058..177300060 [GRCh38]
Chr5:176727059..176727061 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.*4612del deletion Sotos syndrome [RCV003231466]|Weaver syndrome [RCV000280108] Chr5:177300071 [GRCh38]
Chr5:176727072 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*3861G>C single nucleotide variant Sotos syndrome [RCV000372449]|Weaver syndrome [RCV000280311] Chr5:177299320 [GRCh38]
Chr5:176726321 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6019A>T (p.Ile2007Phe) single nucleotide variant Sotos syndrome [RCV003231469] Chr5:177283796 [GRCh38]
Chr5:176710797 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5458G>A (p.Val1820Met) single nucleotide variant Sotos syndrome [RCV005033846]|not provided [RCV000370153] Chr5:177269756 [GRCh38]
Chr5:176696757 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1236+9C>A single nucleotide variant not provided [RCV000370932] Chr5:177204301 [GRCh38]
Chr5:176631302 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2297C>T (p.Ser766Leu) single nucleotide variant Sotos syndrome [RCV003231506]|not provided [RCV000489110] Chr5:177210696 [GRCh38]
Chr5:176637697 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5996T>C (p.Leu1999Pro) single nucleotide variant not provided [RCV000489207] Chr5:177282568 [GRCh38]
Chr5:176709569 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5951G>C (p.Arg1984Pro) single nucleotide variant not provided [RCV000489406] Chr5:177282523 [GRCh38]
Chr5:176709524 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NM_022455.5(NSD1):c.4531C>A (p.Pro1511Thr) single nucleotide variant not provided [RCV003159423] Chr5:177248214 [GRCh38]
Chr5:176675215 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser) single nucleotide variant Sotos syndrome [RCV003231517]|not provided [RCV000523134] Chr5:177280656 [GRCh38]
Chr5:176707657 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) deletion Beckwith-Wiedemann syndrome [RCV000549131]|Sotos syndrome [RCV003231522] Chr5:177211783..177211784 [GRCh38]
Chr5:176638784..176638785 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6212A>G (p.Lys2071Arg) single nucleotide variant Sotos syndrome [RCV004813415] Chr5:177288879 [GRCh38]
Chr5:176715880 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5683T>C (p.Cys1895Arg) single nucleotide variant not provided [RCV000523586] Chr5:177280625 [GRCh38]
Chr5:176707626 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6464-8G>T single nucleotide variant NSD1-related disorder [RCV003962716]|Sotos syndrome [RCV003231539]|not provided [RCV000594381] Chr5:177293824 [GRCh38]
Chr5:176720825 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4765+10A>T single nucleotide variant not specified [RCV000602652] Chr5:177251863 [GRCh38]
Chr5:176678864 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.4(NSD1):c.*1606G>T single nucleotide variant Sotos syndrome [RCV000291110]|Weaver syndrome [RCV000348495] Chr5:177297065 [GRCh38]
Chr5:176724066 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*3805G>A single nucleotide variant Sotos syndrome [RCV000387322]|Weaver syndrome [RCV000330606] Chr5:177299264 [GRCh38]
Chr5:176726265 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.-33G>T single nucleotide variant Sotos syndrome [RCV000331346]|Weaver syndrome [RCV000292857] Chr5:177133937 [GRCh38]
Chr5:176560938 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*400C>T single nucleotide variant Sotos syndrome [RCV000332309]|Weaver syndrome [RCV000389151] Chr5:177295859 [GRCh38]
Chr5:176722860 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.-65A>T single nucleotide variant Sotos syndrome [RCV000332930]|Weaver syndrome [RCV000389491] Chr5:177133905 [GRCh38]
Chr5:176560906 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) single nucleotide variant Sotos syndrome [RCV003231521]|not provided [RCV001528864] Chr5:177211685 [GRCh38]
Chr5:176638686 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.*3098dup duplication Sotos syndrome [RCV003231459]|Weaver syndrome [RCV000293802] Chr5:177298556..177298557 [GRCh38]
Chr5:176725557..176725558 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.*1014dup duplication Sotos syndrome [RCV003231458]|Weaver syndrome [RCV000402644] Chr5:177296472..177296473 [GRCh38]
Chr5:176723473..176723474 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*4601C>T single nucleotide variant Sotos syndrome [RCV000284069]|Weaver syndrome [RCV000378589] Chr5:177300060 [GRCh38]
Chr5:176727061 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*1421C>A single nucleotide variant Sotos syndrome [RCV000323550]|Weaver syndrome [RCV000284963] Chr5:177296880 [GRCh38]
Chr5:176723881 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*4604C>T single nucleotide variant Sotos syndrome [RCV000374665]|Weaver syndrome [RCV000320419] Chr5:177300063 [GRCh38]
Chr5:176727064 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.*839dup duplication Sotos syndrome [RCV003231457]|Weaver syndrome [RCV000342477] Chr5:177296296..177296297 [GRCh38]
Chr5:176723297..176723298 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*4523C>T single nucleotide variant Sotos syndrome [RCV000377633]|Weaver syndrome [RCV000285520] Chr5:177299982 [GRCh38]
Chr5:176726983 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.376A>G (p.Met126Val) single nucleotide variant Sotos syndrome [RCV005035434] Chr5:177135479 [GRCh38]
Chr5:176562480 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*4539A>G single nucleotide variant Sotos syndrome [RCV000381170]|Weaver syndrome [RCV000324138] Chr5:177299998 [GRCh38]
Chr5:176726999 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*2330A>G single nucleotide variant Sotos syndrome [RCV000324241]|Weaver syndrome [RCV000381256] Chr5:177297789 [GRCh38]
Chr5:176724790 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4(NSD1):c.*4541dup duplication Sotos syndrome [RCV000289090]|Weaver syndrome [RCV000346405] Chr5:177299999..177300000 [GRCh38]
Chr5:176727000..176727001 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.*4611dup duplication Sotos syndrome [RCV003231461]|Weaver syndrome [RCV000312484] Chr5:177300057..177300058 [GRCh38]
Chr5:176727058..176727059 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3481C>T (p.Gln1161Ter) single nucleotide variant not provided [RCV000579353] Chr5:177211880 [GRCh38]
Chr5:176638881 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.*4610_*4611del deletion Sotos syndrome [RCV003231464]|Weaver syndrome [RCV000363483]|not provided [RCV004695853] Chr5:177300058..177300059 [GRCh38]
Chr5:176727059..176727060 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3397A>G (p.Lys1133Glu) single nucleotide variant not specified [RCV003994822] Chr5:177211796 [GRCh38]
Chr5:176638797 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5639G>A (p.Gly1880Asp) single nucleotide variant Inborn genetic diseases [RCV000622681] Chr5:177280581 [GRCh38]
Chr5:176707582 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6464-5T>C single nucleotide variant NSD1-related disorder [RCV003945425]|Sotos syndrome [RCV003231538]|not provided [RCV000592254] Chr5:177293827 [GRCh38]
Chr5:176720828 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6464-8_6464-5delinsTTTC indel not provided [RCV000596337] Chr5:177293824..177293827 [GRCh38]
Chr5:176720825..176720828 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3422del (p.Met1141fs) deletion Beckwith-Wiedemann syndrome [RCV000527387]|Sotos syndrome [RCV003231635] Chr5:177211821 [GRCh38]
Chr5:176638822 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3457C>T (p.Gln1153Ter) single nucleotide variant not provided [RCV000578565] Chr5:177211856 [GRCh38]
Chr5:176638857 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6010-14_6016delinsC indel not provided [RCV000598996] Chr5:177283773..177283793 [GRCh38]
Chr5:176710774..176710794 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5851C>T (p.Gln1951Ter) single nucleotide variant not provided [RCV000599214] Chr5:177280793 [GRCh38]
Chr5:176707794 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2915del (p.Thr972fs) deletion not provided [RCV000593198] Chr5:177211314 [GRCh38]
Chr5:176638315 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4058_4061del (p.Glu1353fs) deletion not provided [RCV000593223] Chr5:177238371..177238374 [GRCh38]
Chr5:176665372..176665375 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6643_6644delinsGAT (p.Pro2215fs) indel not provided [RCV000599131] Chr5:177294011..177294012 [GRCh38]
Chr5:176721012..176721013 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5059ATC[1] (p.Ile1688del) microsatellite not provided [RCV000599371] Chr5:177260081..177260083 [GRCh38]
Chr5:176687082..176687084 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6463G>A (p.Gly2155Arg) single nucleotide variant Sotos syndrome [RCV003231516]|not provided [RCV000521971] Chr5:177292158 [GRCh38]
Chr5:176719159 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn) single nucleotide variant Acute myeloid leukemia [RCV000764593]|Sotos syndrome [RCV003231544]|not provided [RCV005091833] Chr5:177210407 [GRCh38]
Chr5:176637408 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly) single nucleotide variant Sotos syndrome [RCV003231551]|not provided [RCV005208717] Chr5:177293915 [GRCh38]
Chr5:176720916 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.2334dup (p.His779fs) duplication Beckwith-Wiedemann syndrome [RCV000628565]|Sotos syndrome [RCV003231560] Chr5:177210732..177210733 [GRCh38]
Chr5:176637733..176637734 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln) single nucleotide variant Sotos syndrome [RCV003231653]|not provided [RCV004696961] Chr5:177204141 [GRCh38]
Chr5:176631142 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3868del (p.Gln1290fs) deletion not provided [RCV005091842] Chr5:177235892 [GRCh38]
Chr5:176662893 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4118T>C (p.Leu1373Ser) single nucleotide variant not provided [RCV005091834] Chr5:177238433 [GRCh38]
Chr5:176665434 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7180A>G (p.Ile2394Val) single nucleotide variant not provided [RCV005091835] Chr5:177294548 [GRCh38]
Chr5:176721549 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) single nucleotide variant Acute myeloid leukemia [RCV000764592]|Inborn genetic diseases [RCV002395648]|Sotos syndrome [RCV003231557]|not provided [RCV003156267] Chr5:177209877 [GRCh38]
Chr5:176636878 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1159G>C (p.Glu387Gln) single nucleotide variant not provided [RCV005208719] Chr5:177204215 [GRCh38]
Chr5:176631216 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.549C>T (p.Ile183=) single nucleotide variant not provided [RCV005091845] Chr5:177135652 [GRCh38]
Chr5:176562653 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6463+5G>C single nucleotide variant not provided [RCV000414523] Chr5:177292163 [GRCh38]
Chr5:176719164 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6058A>T (p.Asn2020Tyr) single nucleotide variant not provided [RCV000414652] Chr5:177283835 [GRCh38]
Chr5:176710836 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6965dup (p.Ala2323fs) duplication not provided [RCV000414751] Chr5:177294332..177294333 [GRCh38]
Chr5:176721333..176721334 [GRCh37]
Chr5:5q35.3		 likely pathogenic
Single allele duplication not provided [RCV000768450] Chr5:175843728..180703728 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg) single nucleotide variant Sotos syndrome [RCV003231610]|not provided [RCV000731509] Chr5:177211671 [GRCh38]
Chr5:176638672 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6289A>G (p.Lys2097Glu) single nucleotide variant not provided [RCV000412899] Chr5:177291984 [GRCh38]
Chr5:176718985 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys) single nucleotide variant Choroid plexus carcinoma [RCV000505596] Chr5:177294515 [GRCh38]
Chr5:176721516 [GRCh37]
Chr5:5q35.3		 other
NM_022455.5(NSD1):c.6425A>C (p.Tyr2142Ser) single nucleotide variant not provided [RCV000413194] Chr5:177292120 [GRCh38]
Chr5:176719121 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs) duplication Beckwith-Wiedemann syndrome [RCV000533339]|Sotos syndrome [RCV003231640] Chr5:177283796..177283797 [GRCh38]
Chr5:176710797..176710798 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1477C>G (p.Pro493Ala) single nucleotide variant Inborn genetic diseases [RCV005372344]|NSD1-related disorder [RCV003962458]|Sotos syndrome [RCV003231633]|not provided [RCV001692166]|not specified [RCV003330747] Chr5:177209876 [GRCh38]
Chr5:176636877 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4665G>A (p.Leu1555=) single nucleotide variant Inborn genetic diseases [RCV002329257]|not provided [RCV005091257] Chr5:177251753 [GRCh38]
Chr5:176678754 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6385C>G (p.Gln2129Glu) single nucleotide variant not provided [RCV000731851] Chr5:177292080 [GRCh38]
Chr5:176719081 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5129G>T (p.Cys1710Phe) single nucleotide variant not provided [RCV000414147] Chr5:177260151 [GRCh38]
Chr5:176687152 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4825delinsGA (p.Pro1609fs) indel not provided [RCV000414242] Chr5:177257010 [GRCh38]
Chr5:176684011 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6009+1G>T single nucleotide variant not provided [RCV000522702] Chr5:177282582 [GRCh38]
Chr5:176709583 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) single nucleotide variant Inborn genetic diseases [RCV002316475]|Sotos syndrome [RCV003231515]|not provided [RCV001573572] Chr5:177211614 [GRCh38]
Chr5:176638615 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 copy number loss See cases [RCV000447018] Chr5:176274007..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.8050G>A (p.Ala2684Thr) single nucleotide variant Inborn genetic diseases [RCV002411417]|not provided [RCV003431014]|not specified [RCV000427212] Chr5:177295418 [GRCh38]
Chr5:176722419 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=) single nucleotide variant Sotos syndrome [RCV003231477]|not provided [RCV001703627] Chr5:177246772 [GRCh38]
Chr5:176673773 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile) single nucleotide variant Sotos syndrome [RCV003231479]|not provided [RCV005090749]|not specified [RCV000434491] Chr5:177294868 [GRCh38]
Chr5:176721869 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.662C>T (p.Ala221Val) single nucleotide variant not provided [RCV000421036] Chr5:177135765 [GRCh38]
Chr5:176562766 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6464-20A>G single nucleotide variant not provided [RCV001721312] Chr5:177293812 [GRCh38]
Chr5:176720813 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4302+1G>A single nucleotide variant Sotos syndrome [RCV003232072] Chr5:177239866 [GRCh38]
Chr5:176666867 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_022455.5(NSD1):c.1064-10C>T single nucleotide variant not provided [RCV005090837]|not specified [RCV000421430] Chr5:177204110 [GRCh38]
Chr5:176631111 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6010-1G>A single nucleotide variant not provided [RCV000421475] Chr5:177283786 [GRCh38]
Chr5:176710787 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1397C>G (p.Ser466Ter) single nucleotide variant not provided [RCV000422342] Chr5:177209796 [GRCh38]
Chr5:176636797 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.34T>C (p.Cys12Arg) single nucleotide variant Sotos syndrome [RCV003231475]|not provided [RCV003237840]|not specified [RCV000419168] Chr5:177135137 [GRCh38]
Chr5:176562138 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5609A>G (p.Tyr1870Cys) single nucleotide variant not provided [RCV000425262] Chr5:177273771 [GRCh38]
Chr5:176700772 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3588G>T (p.Val1196=) single nucleotide variant not provided [RCV001703720] Chr5:177211987 [GRCh38]
Chr5:176638988 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.198A>G (p.Pro66=) single nucleotide variant not specified [RCV000436238] Chr5:177135301 [GRCh38]
Chr5:176562302 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5182G>C (p.Ala1728Pro) single nucleotide variant not provided [RCV000427613] Chr5:177267597 [GRCh38]
Chr5:176694598 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6991G>A (p.Asp2331Asn) single nucleotide variant Inborn genetic diseases [RCV002374645]|NSD1-related disorder [RCV003897859]|not provided [RCV001712367] Chr5:177294359 [GRCh38]
Chr5:176721360 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6429C>T (p.His2143=) single nucleotide variant Inborn genetic diseases [RCV004022461]|NSD1-related disorder [RCV003959986]|not provided [RCV001704515] Chr5:177292124 [GRCh38]
Chr5:176719125 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3512G>A (p.Arg1171His) single nucleotide variant Inborn genetic diseases [RCV004955478]|Sotos syndrome [RCV003231480]|not provided [RCV001703760] Chr5:177211911 [GRCh38]
Chr5:176638912 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3 copy number gain See cases [RCV000445774] Chr5:175722788..177423091 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.2031T>G (p.Ser677=) single nucleotide variant Sotos syndrome [RCV003231473]|not provided [RCV000865235]|not specified [RCV000426013] Chr5:177210430 [GRCh38]
Chr5:176637431 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.5106T>C (p.His1702=) single nucleotide variant not provided [RCV005090836]|not specified [RCV000433009] Chr5:177260128 [GRCh38]
Chr5:176687129 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.684A>G (p.Pro228=) single nucleotide variant Inborn genetic diseases [RCV002365527]|not provided [RCV005090793]|not specified [RCV000433316] Chr5:177135787 [GRCh38]
Chr5:176562788 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4765+1G>A single nucleotide variant not provided [RCV000435432] Chr5:177251854 [GRCh38]
Chr5:176678855 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7115C>A (p.Pro2372His) single nucleotide variant not specified [RCV000430325] Chr5:177294483 [GRCh38]
Chr5:176721484 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) single nucleotide variant Acute myeloid leukemia [RCV001336054]|Sotos syndrome [RCV003231474]|not provided [RCV000436276] Chr5:177210761 [GRCh38]
Chr5:176637762 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176505173-178230923)x1 copy number loss See cases [RCV000445817] Chr5:176505173..178230923 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.7219A>G (p.Thr2407Ala) single nucleotide variant not provided [RCV000441224] Chr5:177294587 [GRCh38]
Chr5:176721588 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 copy number loss See cases [RCV000448793] Chr5:175601473..180100378 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_022455.5(NSD1):c.7618T>C (p.Ser2540Pro) single nucleotide variant Inborn genetic diseases [RCV005372318]|Sotos syndrome [RCV003231489]|not provided [RCV005090907] Chr5:177294986 [GRCh38]
Chr5:176721987 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.4777T>A (p.Cys1593Ser) single nucleotide variant not provided [RCV005056019] Chr5:177256962 [GRCh38]
Chr5:176683963 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.8034del (p.Pro2679fs) deletion not provided [RCV000480835] Chr5:177295401 [GRCh38]
Chr5:176722402 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3230C>G (p.Ser1077Ter) single nucleotide variant not provided [RCV000481063] Chr5:177211629 [GRCh38]
Chr5:176638630 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4574T>C (p.Met1525Thr) single nucleotide variant not provided [RCV005090910] Chr5:177248257 [GRCh38]
Chr5:176675258 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter) single nucleotide variant Sotos syndrome [RCV003231493]|not provided [RCV005056017] Chr5:177292121 [GRCh38]
Chr5:176719122 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5903T>C (p.Val1968Ala) single nucleotide variant not provided [RCV000481475] Chr5:177282475 [GRCh38]
Chr5:176709476 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs) deletion Beckwith-Wiedemann syndrome [RCV000463366]|Sotos syndrome [RCV003231622] Chr5:177211015..177211019 [GRCh38]
Chr5:176638016..176638020 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7897C>T (p.Arg2633Trp) single nucleotide variant not provided [RCV005090908] Chr5:177295265 [GRCh38]
Chr5:176722266 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.5815C>T (p.Arg1939Cys) single nucleotide variant not provided [RCV000482130] Chr5:177280757 [GRCh38]
Chr5:176707758 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5036C>G (p.Ser1679Ter) single nucleotide variant not provided [RCV000482256] Chr5:177260058 [GRCh38]
Chr5:176687059 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs) duplication Beckwith-Wiedemann syndrome [RCV000471287]|Sotos syndrome [RCV003231620] Chr5:177210713..177210714 [GRCh38]
Chr5:176637714..176637715 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.8025A>G (p.Gln2675=) single nucleotide variant Inborn genetic diseases [RCV002411538]|not provided [RCV005208972] Chr5:177295393 [GRCh38]
Chr5:176722394 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4801del (p.Glu1601fs) deletion not provided [RCV000482753] Chr5:177256983 [GRCh38]
Chr5:176683984 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2276C>A (p.Ser759Ter) single nucleotide variant not provided [RCV000482855] Chr5:177210675 [GRCh38]
Chr5:176637676 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5281T>C (p.Trp1761Arg) single nucleotide variant not provided [RCV005090909] Chr5:177267696 [GRCh38]
Chr5:176694697 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4819_4820dup (p.Leu1608fs) duplication not provided [RCV000483435] Chr5:177257003..177257004 [GRCh38]
Chr5:176684004..176684005 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7780G>A (p.Ala2594Thr) single nucleotide variant Sotos syndrome [RCV003231621]|not provided [RCV001571420] Chr5:177295148 [GRCh38]
Chr5:176722149 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs) deletion Beckwith-Wiedemann syndrome [RCV001221224]|Sotos syndrome [RCV003231503]|not provided [RCV000483565] Chr5:177211157..177211160 [GRCh38]
Chr5:176638158..176638161 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5892+1del deletion not provided [RCV000483662] Chr5:177280834 [GRCh38]
Chr5:176707835 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2331A>C (p.Leu777=) single nucleotide variant Inborn genetic diseases [RCV002446873]|not provided [RCV005208759] Chr5:177210730 [GRCh38]
Chr5:176637731 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7452A>G (p.Pro2484=) single nucleotide variant not provided [RCV005056036] Chr5:177294820 [GRCh38]
Chr5:176721821 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6487C>T (p.Gln2163Ter) single nucleotide variant not provided [RCV005056018] Chr5:177293855 [GRCh38]
Chr5:176720856 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5276T>C (p.Ile1759Thr) single nucleotide variant not provided [RCV005208567] Chr5:177267691 [GRCh38]
Chr5:176694692 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.3307G>A (p.Asp1103Asn) single nucleotide variant not provided [RCV000514394] Chr5:177211706 [GRCh38]
Chr5:176638707 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.6412T>C (p.Cys2138Arg) single nucleotide variant not provided [RCV000484869] Chr5:177292107 [GRCh38]
Chr5:176719108 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2152_2153del (p.Ser718fs) microsatellite not provided [RCV000485139] Chr5:177210549..177210550 [GRCh38]
Chr5:176637550..176637551 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr) single nucleotide variant not provided [RCV000485180] Chr5:177257097 [GRCh38]
Chr5:176684098 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.1654del (p.Ser552fs) deletion Beckwith-Wiedemann syndrome [RCV000461382]|Sotos syndrome [RCV003231497] Chr5:177210051 [GRCh38]
Chr5:176637052 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.880_881del (p.Glu294fs) deletion Beckwith-Wiedemann syndrome [RCV000465172]|Sotos syndrome [RCV003231492] Chr5:177135982..177135983 [GRCh38]
Chr5:176562983..176562984 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2652A>G (p.Pro884=) single nucleotide variant not provided [RCV005208839] Chr5:177211051 [GRCh38]
Chr5:176638052 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5521G>C (p.Ala1841Pro) single nucleotide variant not provided [RCV000478715] Chr5:177273683 [GRCh38]
Chr5:176700684 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2996_2997insTTAA (p.Leu999_Ser1000insTer) insertion not provided [RCV000478731] Chr5:177211395..177211396 [GRCh38]
Chr5:176638396..176638397 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3423_3424insCC (p.Asn1142fs) insertion not provided [RCV000485995] Chr5:177211822..177211823 [GRCh38]
Chr5:176638823..176638824 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5177C>G (p.Pro1726Arg) single nucleotide variant not provided [RCV005091260] Chr5:177267592 [GRCh38]
Chr5:176694593 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3575del (p.Pro1192fs) deletion not provided [RCV000486243] Chr5:177211973 [GRCh38]
Chr5:176638974 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4378+5G>C single nucleotide variant not provided [RCV000486416] Chr5:177244275 [GRCh38]
Chr5:176671276 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_022455.5(NSD1):c.5110dup (p.His1704fs) duplication not provided [RCV000486802] Chr5:177260131..177260132 [GRCh38]
Chr5:176687132..176687133 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5310G>C (p.Trp1770Cys) single nucleotide variant not provided [RCV005090911] Chr5:177269608 [GRCh38]
Chr5:176696609 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6029G>A (p.Gly2010Asp) single nucleotide variant not provided [RCV000480136] Chr5:177283806 [GRCh38]
Chr5:176710807 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.1739_1740del (p.Lys580fs) deletion not provided [RCV000480321] Chr5:177210137..177210138 [GRCh38]
Chr5:176637138..176637139 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5699del (p.Thr1900fs) deletion not provided [RCV000480541] Chr5:177280641 [GRCh38]
Chr5:176707642 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3922-2_3925delinsG indel Sotos syndrome [RCV003231628] Chr5:177238235..177238240 [GRCh38]
Chr5:176665236..176665241 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys) single nucleotide variant Inborn genetic diseases [RCV002316441]|Sotos syndrome [RCV003231508]|not provided [RCV001591141]|not specified [RCV000501442] Chr5:177210864 [GRCh38]
Chr5:176637865 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs) deletion Sotos syndrome [RCV003231509]|not provided [RCV000627408] Chr5:177211403..177211404 [GRCh38]
Chr5:176638404..176638405 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg) single nucleotide variant Sotos syndrome [RCV003231510]|not provided [RCV005091106] Chr5:177260091 [GRCh38]
Chr5:176687092 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5289A>T (p.Lys1763Asn) single nucleotide variant Sotos syndrome [RCV003231625] Chr5:177267704 [GRCh38]
Chr5:176694705 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6010-11T>A single nucleotide variant not provided [RCV000497417] Chr5:177283776 [GRCh38]
Chr5:176710777 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu) single nucleotide variant Inborn genetic diseases [RCV004649178]|Sotos syndrome [RCV003231626]|not provided [RCV005091105]|not specified [RCV000499836] Chr5:177211666 [GRCh38]
Chr5:176638667 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5630G>A (p.Arg1877His) single nucleotide variant not provided [RCV004820039]|not specified [RCV000500067] Chr5:177280572 [GRCh38]
Chr5:176707573 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.2054dup (p.Tyr686fs) duplication not provided [RCV000497791] Chr5:177210450..177210451 [GRCh38]
Chr5:176637451..176637452 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850418]|Sotos syndrome [RCV003231511]|not provided [RCV005056091] Chr5:177283797 [GRCh38]
Chr5:176710798 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.4636_4639del (p.Cys1546fs) microsatellite not provided [RCV000498388]|not specified [RCV002287416] Chr5:177248315..177248318 [GRCh38]
Chr5:176675316..176675319 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5910G>C (p.Glu1970Asp) single nucleotide variant not provided [RCV000498391] Chr5:177282482 [GRCh38]
Chr5:176709483 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr) single nucleotide variant Sotos syndrome [RCV003231627]|not provided [RCV005091107] Chr5:177282499 [GRCh38]
Chr5:176709500 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.6158A>C (p.Glu2053Ala) single nucleotide variant not provided [RCV000493664] Chr5:177288825 [GRCh38]
Chr5:176715826 [GRCh37]
Chr5:5q35.3		 likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1 copy number loss See cases [RCV000511974] Chr5:175438045..177392885 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs) deletion Inborn genetic diseases [RCV000623669]|Sotos syndrome [RCV003231624]|not provided [RCV000492938] Chr5:177211067..177211071 [GRCh38]
Chr5:176638068..176638072 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain See cases [RCV000511393] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.7748del (p.Met2583fs) deletion not provided [RCV005092024] Chr5:177295116 [GRCh38]
Chr5:176722117 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1549C>T (p.Gln517Ter) single nucleotide variant Sotos syndrome [RCV003231507] Chr5:177209948 [GRCh38]
Chr5:176636949 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5229G>A (p.Trp1743Ter) single nucleotide variant not provided [RCV000578529] Chr5:177267644 [GRCh38]
Chr5:176694645 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.1609_1610delinsC (p.Phe537fs) indel not provided [RCV005094173] Chr5:177210008..177210009 [GRCh38]
Chr5:176637009..176637010 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6547T>A (p.Cys2183Ser) single nucleotide variant not provided [RCV003313522] Chr5:177293915 [GRCh38]
Chr5:176720916 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6899C>G (p.Ala2300Gly) single nucleotide variant not specified [RCV003317946] Chr5:177294267 [GRCh38]
Chr5:176721268 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1528A>G (p.Ser510Gly) single nucleotide variant Inborn genetic diseases [RCV003280090] Chr5:177209927 [GRCh38]
Chr5:176636928 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn) single nucleotide variant Acute myeloid leukemia [RCV000764594]|Sotos syndrome [RCV003231634]|not provided [RCV005091256] Chr5:177211751 [GRCh38]
Chr5:176638752 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5007C>G (p.His1669Gln) single nucleotide variant not provided [RCV005091259] Chr5:177260029 [GRCh38]
Chr5:176687030 [GRCh37]
Chr5:5q35.3		 uncertain significance
NC_000005.10:g.(?_177135084)_(177295479_?)del deletion Beckwith-Wiedemann syndrome [RCV000557733] Chr5:177135084..177295479 [GRCh38]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4949_4950del (p.Asn1650fs) deletion Inborn genetic diseases [RCV000623756] Chr5:177257134..177257135 [GRCh38]
Chr5:176684135..176684136 [GRCh37]
Chr5:5q35.3		 pathogenic
NC_000005.10:g.(?_177280545)_(177283948_?)del deletion Beckwith-Wiedemann syndrome [RCV000533918]|Sotos syndrome [RCV003231632] Chr5:177280545..177283948 [GRCh38]
Chr5:176707546..176710949 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.241A>G (p.Met81Val) single nucleotide variant Inborn genetic diseases [RCV002316479]|Sotos syndrome [RCV003231520]|not provided [RCV005091255] Chr5:177135344 [GRCh38]
Chr5:176562345 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1596C>T (p.Asn532=) single nucleotide variant not specified [RCV000606865] Chr5:177209995 [GRCh38]
Chr5:176636996 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu) single nucleotide variant Sotos syndrome [RCV003231550]|not provided [RCV005091840] Chr5:177209766 [GRCh38]
Chr5:176636767 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.524C>T (p.Thr175Ile) single nucleotide variant Sotos syndrome [RCV003231552]|not provided [RCV005091841] Chr5:177135627 [GRCh38]
Chr5:176562628 [GRCh37]
Chr5:5q35.3		 uncertain significance|no classifications from unflagged records
NM_022455.5(NSD1):c.8018C>G (p.Pro2673Arg) single nucleotide variant Sotos syndrome [RCV003231559]|not provided [RCV005091844]|not specified [RCV004689814] Chr5:177295386 [GRCh38]
Chr5:176722387 [GRCh37]
Chr5:5q35.3		 uncertain significance|no classifications from unflagged records
NM_022455.5(NSD1):c.6788C>T (p.Ser2263Leu) single nucleotide variant Sotos syndrome [RCV005044900]|not provided [RCV001712656] Chr5:177294156 [GRCh38]
Chr5:176721157 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.1260A>G (p.Lys420=) single nucleotide variant Sotos syndrome [RCV005044896]|not provided [RCV000596824] Chr5:177209659 [GRCh38]
Chr5:176636660 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4759C>T (p.Arg1587Cys) single nucleotide variant not provided [RCV000584936] Chr5:177251847 [GRCh38]
Chr5:176678848 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7049T>C (p.Leu2350Pro) single nucleotide variant not provided [RCV005091838] Chr5:177294417 [GRCh38]
Chr5:176721418 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys) single nucleotide variant Sotos syndrome [RCV003231549]|not provided [RCV005091839] Chr5:177135919 [GRCh38]
Chr5:176562920 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln) single nucleotide variant Inborn genetic diseases [RCV002317368]|Sotos syndrome [RCV003231540]|not provided [RCV000607872] Chr5:177209973 [GRCh38]
Chr5:176636974 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.1816A>T (p.Lys606Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000558545] Chr5:177210215 [GRCh38]
Chr5:176637216 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.507C>T (p.Asp169=) single nucleotide variant not specified [RCV000609162] Chr5:177135610 [GRCh38]
Chr5:176562611 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2655A>G (p.Ser885=) single nucleotide variant not specified [RCV000612036] Chr5:177211054 [GRCh38]
Chr5:176638055 [GRCh37]
Chr5:5q35.3		 likely benign
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1 copy number loss See cases [RCV000512405] Chr5:175570678..177437340 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.5862G>A (p.Trp1954Ter) single nucleotide variant not provided [RCV000578747] Chr5:177280804 [GRCh38]
Chr5:176707805 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5463C>T (p.Ser1821=) single nucleotide variant not provided [RCV001719066] Chr5:177269761 [GRCh38]
Chr5:176696762 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.5892+1G>A single nucleotide variant not provided [RCV005091836] Chr5:177280835 [GRCh38]
Chr5:176707836 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.1606A>C (p.Asn536His) single nucleotide variant NSD1-related disorder [RCV003403442]|not provided [RCV005208718] Chr5:177210005 [GRCh38]
Chr5:176637006 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs) deletion Beckwith-Wiedemann syndrome [RCV000628556]|Sotos syndrome [RCV003231555] Chr5:177269734..177269737 [GRCh38]
Chr5:176696735..176696738 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7914C>T (p.Pro2638=) single nucleotide variant not provided [RCV005056356] Chr5:177295282 [GRCh38]
Chr5:176722283 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.639C>T (p.Ser213=) single nucleotide variant Inborn genetic diseases [RCV002360491]|Sotos syndrome [RCV003231565]|not provided [RCV001692239] Chr5:177135742 [GRCh38]
Chr5:176562743 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4645T>G (p.Cys1549Gly) single nucleotide variant Sotos syndrome [RCV003231596]|not provided [RCV005092033] Chr5:177251733 [GRCh38]
Chr5:176678734 [GRCh37]
Chr5:5q35.3		 uncertain significance|no classifications from unflagged records
NM_022455.5(NSD1):c.2314del (p.Ala772fs) deletion Sotos syndrome [RCV003231568] Chr5:177210710 [GRCh38]
Chr5:176637711 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6107_6109dup (p.Gly2036_Asp2037insGly) duplication Sotos syndrome [RCV003232067] Chr5:177283882..177283883 [GRCh38]
Chr5:176710883..176710884 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs) duplication Sotos syndrome [RCV003231571]|not provided [RCV005091908] Chr5:177292131..177292132 [GRCh38]
Chr5:176719132..176719133 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser) single nucleotide variant Sotos syndrome [RCV003232066] Chr5:177280700 [GRCh38]
Chr5:176707701 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His) single nucleotide variant Sotos syndrome [RCV003231573]|not provided [RCV005091909] Chr5:177294899 [GRCh38]
Chr5:176721900 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1 copy number loss not provided [RCV000682614] Chr5:175438045..177481250 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1 copy number loss not provided [RCV000682615] Chr5:175570677..177436413 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1 copy number loss not provided [RCV000682618] Chr5:176044976..177023859 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.5724del (p.Ser1909fs) deletion Sotos syndrome [RCV003232073] Chr5:177280666 [GRCh38]
Chr5:176707667 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.140C>G (p.Thr47Ser) single nucleotide variant Inborn genetic diseases [RCV002314434] Chr5:177135243 [GRCh38]
Chr5:176562244 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala) single nucleotide variant Inborn genetic diseases [RCV002312355]|Sotos syndrome [RCV003231600]|not provided [RCV001574544] Chr5:177135785 [GRCh38]
Chr5:176562786 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5623-4C>T single nucleotide variant Inborn genetic diseases [RCV002316875]|not provided [RCV005092099] Chr5:177280561 [GRCh38]
Chr5:176707562 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.6317del (p.Lys2106fs) deletion not provided [RCV005208720] Chr5:177292010 [GRCh38]
Chr5:176719011 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2416A>G (p.Ile806Val) single nucleotide variant Sotos syndrome [RCV003231594]|not provided [RCV005092030] Chr5:177210815 [GRCh38]
Chr5:176637816 [GRCh37]
Chr5:5q35.3		 uncertain significance|no classifications from unflagged records
NM_022455.5(NSD1):c.5149G>C (p.Gly1717Arg) single nucleotide variant not provided [RCV005092014] Chr5:177267564 [GRCh38]
Chr5:176694565 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.7402C>T (p.Arg2468Trp) single nucleotide variant Inborn genetic diseases [RCV002316161] Chr5:177294770 [GRCh38]
Chr5:176721771 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1176C>T (p.Phe392=) single nucleotide variant Inborn genetic diseases [RCV002314467]|Sotos syndrome [RCV003231604]|not provided [RCV004721575] Chr5:177204232 [GRCh38]
Chr5:176631233 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7137A>G (p.Ser2379=) single nucleotide variant Inborn genetic diseases [RCV002313464]|not provided [RCV002263955] Chr5:177294505 [GRCh38]
Chr5:176721506 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1664C>T (p.Ala555Val) single nucleotide variant Sotos syndrome [RCV003231586] Chr5:177210063 [GRCh38]
Chr5:176637064 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7379A>G (p.Asp2460Gly) single nucleotide variant Sotos syndrome [RCV003232082]|not provided [RCV005092035] Chr5:177294747 [GRCh38]
Chr5:176721748 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance|no classifications from unflagged records
NM_022455.5(NSD1):c.1064-5C>A single nucleotide variant Inborn genetic diseases [RCV002314499]|Sotos syndrome [RCV003231605]|not provided [RCV000889968] Chr5:177204115 [GRCh38]
Chr5:176631116 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.1509delinsGA (p.Asp504fs) indel not provided [RCV005091998] Chr5:177209908 [GRCh38]
Chr5:176636909 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5031T>C (p.Ala1677=) single nucleotide variant Inborn genetic diseases [RCV002312393] Chr5:177260053 [GRCh38]
Chr5:176687054 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5736C>G (p.Ile1912Met) single nucleotide variant not provided [RCV005092032] Chr5:177280678 [GRCh38]
Chr5:176707679 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6424T>G (p.Tyr2142Asp) single nucleotide variant not provided [RCV005092025] Chr5:177292119 [GRCh38]
Chr5:176719120 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6152-5T>G single nucleotide variant not provided [RCV005092015] Chr5:177288814 [GRCh38]
Chr5:176715815 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3869A>C (p.Gln1290Pro) single nucleotide variant Sotos syndrome [RCV003232078]|not provided [RCV005092023] Chr5:177235893 [GRCh38]
Chr5:176662894 [GRCh37]
Chr5:5q35.3		 uncertain significance|no classifications from unflagged records
NM_022455.5(NSD1):c.4932dup (p.Ala1645fs) duplication not provided [RCV005208721] Chr5:177257116..177257117 [GRCh38]
Chr5:176684117..176684118 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6370T>G (p.Cys2124Gly) single nucleotide variant Sotos syndrome [RCV003231579] Chr5:177292065 [GRCh38]
Chr5:176719066 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4988G>A (p.Arg1663His) single nucleotide variant NSD1-related disorder [RCV004731012]|Sotos syndrome [RCV003231587]|not provided [RCV005056441] Chr5:177260010 [GRCh38]
Chr5:176687011 [GRCh37]
Chr5:5q35.3		 uncertain significance|no classifications from unflagged records
NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter) single nucleotide variant not provided [RCV005208722] Chr5:177295058 [GRCh38]
Chr5:176722059 [GRCh37]
Chr5:5q35.3		 pathogenic|uncertain significance
NC_000005.10:g.(?_177235801)_(177239885_?)del deletion Beckwith-Wiedemann syndrome [RCV000708034]|Sotos syndrome [RCV003231599] Chr5:177235801..177239885 [GRCh38]
Chr5:176662802..176666886 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2153G>A (p.Ser718Asn) single nucleotide variant not provided [RCV005056442] Chr5:177210552 [GRCh38]
Chr5:176637553 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4378+3_4378+6del deletion Sotos syndrome [RCV003231577]|not provided [RCV001592859] Chr5:177244271..177244274 [GRCh38]
Chr5:176671272..176671275 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.3513dup (p.Lys1172Ter) duplication not provided [RCV005092013] Chr5:177211911..177211912 [GRCh38]
Chr5:176638912..176638913 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs) duplication Beckwith-Wiedemann syndrome [RCV000701163]|Sotos syndrome [RCV003231595] Chr5:177211968..177211969 [GRCh38]
Chr5:176638969..176638970 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000697110]|not provided [RCV005092022] Chr5:177135310 [GRCh38]
Chr5:176562311 [GRCh37]
Chr5:5q35.3		 pathogenic|no classifications from unflagged records
NM_022455.5(NSD1):c.1578G>A (p.Arg526=) single nucleotide variant Inborn genetic diseases [RCV002312407] Chr5:177209977 [GRCh38]
Chr5:176636978 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3741G>A (p.Met1247Ile) single nucleotide variant Inborn genetic diseases [RCV002316137]|not provided [RCV001578182] Chr5:177212140 [GRCh38]
Chr5:176639141 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys) single nucleotide variant Inborn genetic diseases [RCV002313496]|Sotos syndrome [RCV003231606]|not provided [RCV000762245] Chr5:177211367 [GRCh38]
Chr5:176638368 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro) single nucleotide variant Inborn genetic diseases [RCV002312372]|Sotos syndrome [RCV003231601]|not provided [RCV005092069] Chr5:177294216 [GRCh38]
Chr5:176721217 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3221G>A (p.Arg1074His) single nucleotide variant Inborn genetic diseases [RCV002313652]|not provided [RCV005092079] Chr5:177211620 [GRCh38]
Chr5:176638621 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.3224G>A (p.Gly1075Glu) single nucleotide variant Inborn genetic diseases [RCV002317975]|not provided [RCV001805832] Chr5:177211623 [GRCh38]
Chr5:176638624 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.436A>G (p.Ile146Val) single nucleotide variant Inborn genetic diseases [RCV002318117]|Sotos syndrome [RCV003231608]|not provided [RCV005092089] Chr5:177135539 [GRCh38]
Chr5:176562540 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.887C>G (p.Pro296Arg) single nucleotide variant Inborn genetic diseases [RCV002315448]|not provided [RCV005092084] Chr5:177135990 [GRCh38]
Chr5:176562991 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.1500A>G (p.Arg500=) single nucleotide variant Inborn genetic diseases [RCV002318845]|not provided [RCV005208928] Chr5:177209899 [GRCh38]
Chr5:176636900 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.8014A>G (p.Lys2672Glu) single nucleotide variant Inborn genetic diseases [RCV002318749]|not provided [RCV005092092] Chr5:177295382 [GRCh38]
Chr5:176722383 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5510-112G>A single nucleotide variant not provided [RCV001565573] Chr5:177273560 [GRCh38]
Chr5:176700561 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1216_1219del (p.Glu406fs) microsatellite not provided [RCV001582012] Chr5:177204267..177204270 [GRCh38]
Chr5:176631268..176631271 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346223-177423236)x1 copy number loss not provided [RCV000745338] Chr5:175346223..177423236 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1 copy number loss not provided [RCV000745339] Chr5:175433876..177441189 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176582117-176600839)x1 copy number loss not provided [RCV000745352] Chr5:176582117..176600839 [GRCh37]
Chr5:5q35.2-35.3		 benign
GRCh37/hg19 5q35.3(chr5:176639461-176645012)x3 copy number gain not provided [RCV000745353] Chr5:176639461..176645012 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6151+137G>A single nucleotide variant not provided [RCV001583068] Chr5:177284065 [GRCh38]
Chr5:176711066 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3833G>A (p.Ser1278Asn) single nucleotide variant not provided [RCV001532056] Chr5:177235857 [GRCh38]
Chr5:176662858 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3797-248T>A single nucleotide variant not provided [RCV001649141] Chr5:177235573 [GRCh38]
Chr5:176662574 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4641+206G>C single nucleotide variant not provided [RCV001667047] Chr5:177248530 [GRCh38]
Chr5:176675531 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4966+77C>T single nucleotide variant not provided [RCV001612356] Chr5:177257228 [GRCh38]
Chr5:176684229 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6408A>G (p.Pro2136=) single nucleotide variant NSD1-related disorder [RCV003910913]|not provided [RCV001584904] Chr5:177292103 [GRCh38]
Chr5:176719104 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1064-194T>C single nucleotide variant not provided [RCV001612641] Chr5:177203926 [GRCh38]
Chr5:176630927 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6463+8C>A single nucleotide variant See cases [RCV002252259]|not provided [RCV005092548] Chr5:177292166 [GRCh38]
Chr5:176719167 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6010-162T>G single nucleotide variant not provided [RCV001666722] Chr5:177283625 [GRCh38]
Chr5:176710626 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5502T>A (p.Tyr1834Ter) single nucleotide variant not provided [RCV000760879] Chr5:177269800 [GRCh38]
Chr5:176696801 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2494A>T (p.Lys832Ter) single nucleotide variant not provided [RCV000760959] Chr5:177210893 [GRCh38]
Chr5:176637894 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001053071]|Sotos syndrome [RCV003232087] Chr5:177292061 [GRCh38]
Chr5:176719062 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3546C>G (p.Asn1182Lys) single nucleotide variant not provided [RCV000762246] Chr5:177211945 [GRCh38]
Chr5:176638946 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer) deletion Acute myeloid leukemia [RCV000760285] Chr5:177210250 [GRCh38]
Chr5:176637251 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3290T>A (p.Leu1097Ter) single nucleotide variant not provided [RCV000760428] Chr5:177211689 [GRCh38]
Chr5:176638690 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3274C>T (p.Gln1092Ter) single nucleotide variant not provided [RCV000760759] Chr5:177211673 [GRCh38]
Chr5:176638674 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4967-175G>T single nucleotide variant not provided [RCV001571279] Chr5:177259814 [GRCh38]
Chr5:176686815 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1237-108C>A single nucleotide variant not provided [RCV001576625] Chr5:177209528 [GRCh38]
Chr5:176636529 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5303+35A>C single nucleotide variant not provided [RCV001571829] Chr5:177267753 [GRCh38]
Chr5:176694754 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4497+52C>T single nucleotide variant not provided [RCV001569864] Chr5:177246848 [GRCh38]
Chr5:176673849 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5714G>A (p.Cys1905Tyr) single nucleotide variant Sotos syndrome [RCV003232204] Chr5:177280656 [GRCh38]
Chr5:176707657 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1237-92dup duplication not provided [RCV001611500] Chr5:177209528..177209529 [GRCh38]
Chr5:176636529..176636530 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.7809C>T (p.Leu2603=) single nucleotide variant Sotos syndrome [RCV003232382]|not provided [RCV001570432] Chr5:177295177 [GRCh38]
Chr5:176722178 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3796G>A (p.Ala1266Thr) single nucleotide variant not provided [RCV001585216] Chr5:177212195 [GRCh38]
Chr5:176639196 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.334G>T (p.Val112Phe) single nucleotide variant Sotos syndrome [RCV003232388]|not provided [RCV001585259] Chr5:177135437 [GRCh38]
Chr5:176562438 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6151+287A>G single nucleotide variant not provided [RCV001574633] Chr5:177284215 [GRCh38]
Chr5:176711216 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5146+84T>C single nucleotide variant not provided [RCV001574867] Chr5:177260252 [GRCh38]
Chr5:176687253 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter) single nucleotide variant Sotos syndrome [RCV003231612]|not provided [RCV001007962] Chr5:177267711 [GRCh38]
Chr5:176694712 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4966+93_4966+96dup duplication not provided [RCV001568562] Chr5:177257228..177257229 [GRCh38]
Chr5:176684229..176684230 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7502C>T (p.Pro2501Leu) single nucleotide variant not provided [RCV000998503] Chr5:177294870 [GRCh38]
Chr5:176721871 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.622G>A (p.Gly208Arg) single nucleotide variant Inborn genetic diseases [RCV005384889]|not provided [RCV000904122] Chr5:177135725 [GRCh38]
Chr5:176562726 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.2991C>T (p.Gly997=) single nucleotide variant not provided [RCV005092808] Chr5:177211390 [GRCh38]
Chr5:176638391 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1173A>G (p.Gln391=) single nucleotide variant not provided [RCV005092575] Chr5:177204229 [GRCh38]
Chr5:176631230 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6513A>C (p.Ala2171=) single nucleotide variant not provided [RCV000925552] Chr5:177293881 [GRCh38]
Chr5:176720882 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.804A>G (p.Glu268=) single nucleotide variant not provided [RCV000877584] Chr5:177135907 [GRCh38]
Chr5:176562908 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7160C>T (p.Pro2387Leu) single nucleotide variant not provided [RCV005092563] Chr5:177294528 [GRCh38]
Chr5:176721529 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2766G>A (p.Thr922=) single nucleotide variant not provided [RCV000870306] Chr5:177211165 [GRCh38]
Chr5:176638166 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4379-5C>T single nucleotide variant not provided [RCV005092576] Chr5:177246673 [GRCh38]
Chr5:176673674 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2748T>G (p.Asp916Glu) single nucleotide variant not provided [RCV000870766] Chr5:177211147 [GRCh38]
Chr5:176638148 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.936T>G (p.Pro312=) single nucleotide variant not provided [RCV000868742] Chr5:177191892 [GRCh38]
Chr5:176618893 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1813G>C (p.Glu605Gln) single nucleotide variant not provided [RCV005092624] Chr5:177210212 [GRCh38]
Chr5:176637213 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4509G>A (p.Met1503Ile) single nucleotide variant NSD1-related disorder [RCV004751761]|Sotos syndrome [RCV003232141]|not provided [RCV000865350]|not specified [RCV003151164] Chr5:177248192 [GRCh38]
Chr5:176675193 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4766-9G>T single nucleotide variant not provided [RCV005092670] Chr5:177256942 [GRCh38]
Chr5:176683943 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1290G>A (p.Gln430=) single nucleotide variant Inborn genetic diseases [RCV002381956]|not provided [RCV005092583] Chr5:177209689 [GRCh38]
Chr5:176636690 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg) single nucleotide variant not provided [RCV005093353] Chr5:177293858 [GRCh38]
Chr5:176720859 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln) single nucleotide variant NSD1-related disorder [RCV004751867]|Sotos syndrome [RCV003232193]|not provided [RCV005093342] Chr5:177211467 [GRCh38]
Chr5:176638468 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp) single nucleotide variant Sotos syndrome [RCV005394706]|not provided [RCV003886476] Chr5:177248206 [GRCh38]
Chr5:176675207 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5509+2T>G single nucleotide variant not provided [RCV005093351] Chr5:177269809 [GRCh38]
Chr5:176696810 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876) copy number gain not provided [RCV000767712] Chr5:176305543..177422876 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.2289_2317dup (p.Ala773delinsValArgThrArgTer) duplication Sotos syndrome [RCV003232178] Chr5:177210684..177210685 [GRCh38]
Chr5:176637685..176637686 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4766-2A>G single nucleotide variant Sotos syndrome [RCV003232179]|not provided [RCV005093004] Chr5:177256949 [GRCh38]
Chr5:176683950 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.6320G>A (p.Arg2107His) single nucleotide variant not provided [RCV004820148] Chr5:177292015 [GRCh38]
Chr5:176719016 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7870C>A (p.Pro2624Thr) single nucleotide variant not specified [RCV000780555] Chr5:177295238 [GRCh38]
Chr5:176722239 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2613del (p.Ser871_Leu872insTer) deletion Sotos syndrome [RCV003232092] Chr5:177211011 [GRCh38]
Chr5:176638012 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6010-241C>G single nucleotide variant not provided [RCV000826504] Chr5:177283546 [GRCh38]
Chr5:176710547 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1047A>G (p.Thr349=) single nucleotide variant not provided [RCV000939561] Chr5:177192003 [GRCh38]
Chr5:176619004 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6468A>G (p.Lys2156=) single nucleotide variant not provided [RCV005092545] Chr5:177293836 [GRCh38]
Chr5:176720837 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1499G>C (p.Arg500Thr) single nucleotide variant not provided [RCV000885251] Chr5:177209898 [GRCh38]
Chr5:176636899 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3090G>T (p.Leu1030Phe) single nucleotide variant Inborn genetic diseases [RCV002536817]|Sotos syndrome [RCV003232153]|not provided [RCV000879988] Chr5:177211489 [GRCh38]
Chr5:176638490 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.39G>C (p.Leu13=) single nucleotide variant not provided [RCV000888793] Chr5:177135142 [GRCh38]
Chr5:176562143 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2475C>T (p.Ala825=) single nucleotide variant not provided [RCV005092684] Chr5:177210874 [GRCh38]
Chr5:176637875 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7152G>C (p.Leu2384=) single nucleotide variant not provided [RCV005092886] Chr5:177294520 [GRCh38]
Chr5:176721521 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5510-10G>A single nucleotide variant NSD1-related disorder [RCV003965677]|Sotos syndrome [RCV003232140]|not provided [RCV005092555] Chr5:177273662 [GRCh38]
Chr5:176700663 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1605A>G (p.Leu535=) single nucleotide variant not provided [RCV005092680] Chr5:177210004 [GRCh38]
Chr5:176637005 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.454C>T (p.His152Tyr) single nucleotide variant Sotos syndrome [RCV003232145]|not provided [RCV005208933] Chr5:177135557 [GRCh38]
Chr5:176562558 [GRCh37]
Chr5:5q35.3		 likely benign
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
NM_022455.5(NSD1):c.4583C>T (p.Ser1528Phe) single nucleotide variant Sotos syndrome [RCV003232103]|not provided [RCV005092391] Chr5:177248266 [GRCh38]
Chr5:176675267 [GRCh37]
Chr5:5q35.3		 uncertain significance|no classifications from unflagged records
NM_022455.5(NSD1):c.1906A>G (p.Ile636Val) single nucleotide variant not provided [RCV005208724] Chr5:177210305 [GRCh38]
Chr5:176637306 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6524G>A (p.Cys2175Tyr) single nucleotide variant not provided [RCV005092433] Chr5:177293892 [GRCh38]
Chr5:176720893 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4213C>T (p.Gln1405Ter) single nucleotide variant not provided [RCV005092390] Chr5:177239776 [GRCh38]
Chr5:176666777 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5020del (p.Cys1674fs) deletion Sotos syndrome [RCV003232118]|not provided [RCV001008806] Chr5:177260039 [GRCh38]
Chr5:176687040 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.793A>G (p.Ile265Val) single nucleotide variant Sotos syndrome [RCV003232119]|not provided [RCV005092428] Chr5:177135896 [GRCh38]
Chr5:176562897 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4538_4539insTCCT (p.Glu1513fs) insertion Sotos syndrome [RCV003232132] Chr5:177248221..177248222 [GRCh38]
Chr5:176675222..176675223 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5849T>G (p.Leu1950Ter) single nucleotide variant not provided [RCV005092436] Chr5:177280791 [GRCh38]
Chr5:176707792 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7352G>C (p.Arg2451Thr) single nucleotide variant Sotos syndrome [RCV003232093] Chr5:177294720 [GRCh38]
Chr5:176721721 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1414C>T (p.Leu472Phe) single nucleotide variant Inborn genetic diseases [RCV005384864]|Sotos syndrome [RCV003232116]|not provided [RCV005092421] Chr5:177209813 [GRCh38]
Chr5:176636814 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance|no classifications from unflagged records
NM_022455.5(NSD1):c.29G>A (p.Arg10Lys) single nucleotide variant not provided [RCV005208726] Chr5:177135132 [GRCh38]
Chr5:176562133 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6673C>G (p.Pro2225Ala) single nucleotide variant Inborn genetic diseases [RCV002363148]|not provided [RCV005092443] Chr5:177294041 [GRCh38]
Chr5:176721042 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2687A>G (p.Gln896Arg) single nucleotide variant not provided [RCV000998499] Chr5:177211086 [GRCh38]
Chr5:176638087 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4428T>A (p.His1476Gln) single nucleotide variant Sotos syndrome [RCV003232115] Chr5:177246727 [GRCh38]
Chr5:176673728 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4379-2A>G single nucleotide variant not provided [RCV005092388] Chr5:177246676 [GRCh38]
Chr5:176673677 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6463+250C>A single nucleotide variant not provided [RCV000832891] Chr5:177292408 [GRCh38]
Chr5:176719409 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2345G>A (p.Ser782Asn) single nucleotide variant not provided [RCV000838611] Chr5:177210744 [GRCh38]
Chr5:176637745 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter) single nucleotide variant Sotos syndrome [RCV003232175] Chr5:177280754 [GRCh38]
Chr5:176707755 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3796+108C>G single nucleotide variant not provided [RCV000829627] Chr5:177212303 [GRCh38]
Chr5:176639304 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val) single nucleotide variant Sotos syndrome [RCV003232167] Chr5:177283803 [GRCh38]
Chr5:176710804 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4306T>C (p.Tyr1436His) single nucleotide variant not provided [RCV005092425] Chr5:177244198 [GRCh38]
Chr5:176671199 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1064-137T>C single nucleotide variant not provided [RCV000826501] Chr5:177203983 [GRCh38]
Chr5:176630984 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2079C>G (p.Asn693Lys) single nucleotide variant Sotos syndrome [RCV003232100]|not provided [RCV005056562] Chr5:177210478 [GRCh38]
Chr5:176637479 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.7016C>T (p.Pro2339Leu) single nucleotide variant Sotos syndrome [RCV003232124]|not provided [RCV005092439] Chr5:177294384 [GRCh38]
Chr5:176721385 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3 copy number gain not provided [RCV000846590] Chr5:176643613..179085551 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3331G>T (p.Asp1111Tyr) single nucleotide variant not provided [RCV005092447] Chr5:177211730 [GRCh38]
Chr5:176638731 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5273A>G (p.Glu1758Gly) single nucleotide variant not provided [RCV005092438] Chr5:177267688 [GRCh38]
Chr5:176694689 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6358G>T (p.Glu2120Ter) single nucleotide variant Sotos syndrome [RCV003232090] Chr5:177292053 [GRCh38]
Chr5:176719054 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1760del (p.Gly587fs) deletion not provided [RCV005208727] Chr5:177210158 [GRCh38]
Chr5:176637159 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs) microsatellite Beckwith-Wiedemann syndrome [RCV000823647]|Inborn genetic diseases [RCV005372462]|NSD1-related disorder [RCV003411818]|Sotos syndrome [RCV003232130] Chr5:177210648..177210649 [GRCh38]
Chr5:176637649..176637650 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1729A>T (p.Thr577Ser) single nucleotide variant not provided [RCV005092392] Chr5:177210128 [GRCh38]
Chr5:176637129 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7892C>G (p.Ser2631Ter) single nucleotide variant not provided [RCV000782193] Chr5:177295260 [GRCh38]
Chr5:176722261 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2231C>T (p.Ser744Leu) single nucleotide variant not provided [RCV005092457] Chr5:177210630 [GRCh38]
Chr5:176637631 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain not provided [RCV000846148] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.3114G>T (p.Met1038Ile) single nucleotide variant not provided [RCV005092394] Chr5:177211513 [GRCh38]
Chr5:176638514 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5146+2dup duplication Beckwith-Wiedemann syndrome [RCV000815297]|Sotos syndrome [RCV003232120] Chr5:177260169..177260170 [GRCh38]
Chr5:176687170..176687171 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5774G>A (p.Cys1925Tyr) single nucleotide variant not provided [RCV005093366] Chr5:177280716 [GRCh38]
Chr5:176707717 [GRCh37]
Chr5:5q35.3		 uncertain significance
NC_000005.10:g.(?_177135094)_(177295469_?)del deletion Beckwith-Wiedemann syndrome [RCV000807926]|Sotos syndrome [RCV003232114] Chr5:177135094..177295469 [GRCh38]
Chr5:176562095..176722470 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1879G>A (p.Gly627Ser) single nucleotide variant not provided [RCV004584801] Chr5:177210278 [GRCh38]
Chr5:176637279 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7976C>T (p.Ala2659Val) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000785152] Chr5:177295344 [GRCh38]
Chr5:176722345 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4966+96dup duplication Sotos syndrome [RCV003232174]|not provided [RCV001545947] Chr5:177257228..177257229 [GRCh38]
Chr5:176684229..176684230 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.3757A>G (p.Ile1253Val) single nucleotide variant Inborn genetic diseases [RCV002360984]|not provided [RCV005092411] Chr5:177212156 [GRCh38]
Chr5:176639157 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter) single nucleotide variant Sotos syndrome [RCV003232133] Chr5:177288923 [GRCh38]
Chr5:176715924 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6096G>C (p.Trp2032Cys) single nucleotide variant Neurodevelopmental disorder [RCV000787357] Chr5:177283873 [GRCh38]
Chr5:176710874 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5410T>A (p.Tyr1804Asn) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000799306] Chr5:177269708 [GRCh38]
Chr5:176696709 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.1046_1048delinsT (p.Thr349fs) indel not provided [RCV005092453] Chr5:177192002..177192004 [GRCh38]
Chr5:176619003..176619005 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1237-246G>A single nucleotide variant not provided [RCV000826502] Chr5:177209390 [GRCh38]
Chr5:176636391 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu) single nucleotide variant Inborn genetic diseases [RCV002360911]|Sotos syndrome [RCV003232094]|not provided [RCV004721601] Chr5:177294048 [GRCh38]
Chr5:176721049 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter) single nucleotide variant Sotos syndrome [RCV003232110]|not provided [RCV001796231] Chr5:177209891 [GRCh38]
Chr5:176636892 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3682G>C (p.Asp1228His) single nucleotide variant Sotos syndrome [RCV003232096]|not provided [RCV005092383] Chr5:177212081 [GRCh38]
Chr5:176639082 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4497+141A>G single nucleotide variant not provided [RCV000829963] Chr5:177246937 [GRCh38]
Chr5:176673938 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6258G>T (p.Lys2086Asn) single nucleotide variant not provided [RCV005208725] Chr5:177288925 [GRCh38]
Chr5:176715926 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2137dup (p.Met713fs) duplication Sotos syndrome [RCV003232091] Chr5:177210534..177210535 [GRCh38]
Chr5:176637535..176637536 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1327_1328del (p.Ile443fs) deletion not provided [RCV001008307] Chr5:177209725..177209726 [GRCh38]
Chr5:176636726..176636727 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2047_2048del (p.Lys683fs) deletion not provided [RCV001008455] Chr5:177210444..177210445 [GRCh38]
Chr5:176637445..176637446 [GRCh37]
Chr5:5q35.3		 pathogenic
Single allele insertion not provided [RCV000984896] Chr5:5q35.3 pathogenic
NM_022455.5(NSD1):c.2215_2217del (p.Val739del) deletion not provided [RCV005093323] Chr5:177210612..177210614 [GRCh38]
Chr5:176637613..176637615 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1976A>G (p.Asp659Gly) single nucleotide variant Sotos syndrome [RCV003232181]|not provided [RCV000998498]|not specified [RCV004702565] Chr5:177210375 [GRCh38]
Chr5:176637376 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4521G>A (p.Thr1507=) single nucleotide variant Inborn genetic diseases [RCV002337054]|not provided [RCV000998500] Chr5:177248204 [GRCh38]
Chr5:176675205 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5721dup (p.Asp1908fs) duplication not provided [RCV001008920] Chr5:177280662..177280663 [GRCh38]
Chr5:176707663..176707664 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6667C>T (p.Pro2223Ser) single nucleotide variant Beckwith-Wiedemann syndrome [RCV001068574] Chr5:177294035 [GRCh38]
Chr5:176721036 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5103T>C (p.Asn1701=) single nucleotide variant not provided [RCV000975394] Chr5:177260125 [GRCh38]
Chr5:176687126 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4193-10T>C single nucleotide variant Sotos syndrome [RCV005036320]|not provided [RCV005093321] Chr5:177239746 [GRCh38]
Chr5:176666747 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.1237-90del deletion Sotos syndrome [RCV003232170]|not provided [RCV001615093] Chr5:177209545 [GRCh38]
Chr5:176636546 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.3922-1G>C single nucleotide variant Sotos syndrome [RCV003232171] Chr5:177238236 [GRCh38]
Chr5:176665237 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs) microsatellite Sotos syndrome [RCV003232176] Chr5:177283862..177283863 [GRCh38]
Chr5:176710863..176710864 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.7196A>C (p.Lys2399Thr) single nucleotide variant not provided [RCV005094141] Chr5:177294564 [GRCh38]
Chr5:176721565 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
Single allele deletion Marfanoid habitus and intellectual disability [RCV000851176] Chr5:175875407..177036017 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu) single nucleotide variant Sotos syndrome [RCV003232225] Chr5:177204161 [GRCh38]
Chr5:176631162 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4193-1G>A single nucleotide variant Sotos syndrome [RCV003232173] Chr5:177239755 [GRCh38]
Chr5:176666756 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe) single nucleotide variant Sotos syndrome [RCV003232207]|not provided [RCV005093371] Chr5:177267613 [GRCh38]
Chr5:176694614 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.2437A>G (p.Lys813Glu) single nucleotide variant not provided [RCV004812651] Chr5:177210836 [GRCh38]
Chr5:176637837 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2809C>T (p.Arg937Trp) single nucleotide variant Sotos syndrome [RCV003232266]|not provided [RCV005094183] Chr5:177211208 [GRCh38]
Chr5:176638209 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs) deletion Beckwith-Wiedemann syndrome [RCV001226345] Chr5:177239787..177239790 [GRCh38]
Chr5:176666788..176666791 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly) single nucleotide variant not provided [RCV005094115] Chr5:177288875 [GRCh38]
Chr5:176715876 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4124del (p.Val1375fs) deletion not provided [RCV005094156] Chr5:177238439 [GRCh38]
Chr5:176665440 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter) single nucleotide variant not provided [RCV005094126] Chr5:177209652 [GRCh38]
Chr5:176636653 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1333G>C (p.Gly445Arg) single nucleotide variant Sotos syndrome [RCV003232242] Chr5:177209732 [GRCh38]
Chr5:176636733 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5799C>A (p.Asn1933Lys) single nucleotide variant not provided [RCV005094119] Chr5:177280741 [GRCh38]
Chr5:176707742 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.658_666del (p.Gly220_Val222del) deletion not provided [RCV005094162] Chr5:177135760..177135768 [GRCh38]
Chr5:176562761..176562769 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4766-1G>A single nucleotide variant Beckwith-Wiedemann syndrome [RCV001226039] Chr5:177256950 [GRCh38]
Chr5:176683951 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2776C>T (p.Arg926Trp) single nucleotide variant not provided [RCV005094122] Chr5:177211175 [GRCh38]
Chr5:176638176 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.4380C>T (p.Gly1460=) single nucleotide variant Sotos syndrome [RCV003232250]|not provided [RCV005094136] Chr5:177246679 [GRCh38]
Chr5:176673680 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.3781dup (p.Glu1261fs) duplication not provided [RCV005094093] Chr5:177212179..177212180 [GRCh38]
Chr5:176639180..176639181 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7615C>G (p.Leu2539Val) single nucleotide variant not provided [RCV005094146] Chr5:177294983 [GRCh38]
Chr5:176721984 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.346T>G (p.Leu116Val) single nucleotide variant not provided [RCV000998497] Chr5:177135449 [GRCh38]
Chr5:176562450 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6123C>G (p.Gly2041=) single nucleotide variant not provided [RCV000998501] Chr5:177283900 [GRCh38]
Chr5:176710901 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7568C>T (p.Ser2523Leu) single nucleotide variant Inborn genetic diseases [RCV003271879] Chr5:177294936 [GRCh38]
Chr5:176721937 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3997A>G (p.Asn1333Asp) single nucleotide variant not provided [RCV003318154] Chr5:177238312 [GRCh38]
Chr5:176665313 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2831G>A (p.Cys944Tyr) single nucleotide variant not provided [RCV003313613] Chr5:177211230 [GRCh38]
Chr5:176638231 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter) single nucleotide variant Sotos syndrome [RCV003232177]|not provided [RCV005092972] Chr5:177293921 [GRCh38]
Chr5:176720922 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NC_000005.10:g.(177090796_177094455)_(177346090_177352856)dup duplication 5q35 microduplication syndrome [RCV001199823] Chr5:176521456..176773091 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.5342del (p.Pro1781fs) deletion not provided [RCV001008807] Chr5:177269639 [GRCh38]
Chr5:176696640 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7022C>T (p.Ser2341Phe) single nucleotide variant Sotos syndrome [RCV003232228] Chr5:177294390 [GRCh38]
Chr5:176721391 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3698G>A (p.Arg1233Gln) single nucleotide variant Sotos syndrome [RCV003232251]|not provided [RCV005094137] Chr5:177212097 [GRCh38]
Chr5:176639098 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance|no classifications from unflagged records
NM_022455.5(NSD1):c.5147-12T>G single nucleotide variant not provided [RCV005099248] Chr5:177267550 [GRCh38]
Chr5:176694551 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7898G>C (p.Arg2633Pro) single nucleotide variant not provided [RCV004777125] Chr5:177295266 [GRCh38]
Chr5:176722267 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3181A>T (p.Ser1061Cys) single nucleotide variant Sotos syndrome [RCV003232848]|not provided [RCV005099240] Chr5:177211580 [GRCh38]
Chr5:176638581 [GRCh37]
Chr5:5q35.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.7419T>G (p.His2473Gln) single nucleotide variant not provided [RCV003237070] Chr5:177294787 [GRCh38]
Chr5:176721788 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3383del (p.Ser1128fs) deletion not provided [RCV003126322] Chr5:177211782 [GRCh38]
Chr5:176638783 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3771A>G (p.Thr1257=) single nucleotide variant not provided [RCV005099239] Chr5:177212170 [GRCh38]
Chr5:176639171 [GRCh37]
Chr5:5q35.3		 likely benign
NC_000005.9:g.(?_176289625)_(177151363_?)del deletion Sotos syndrome [RCV003232856]|not provided [RCV003113198] Chr5:176289625..177151363 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic|no classifications from unflagged records
NM_022455.5(NSD1):c.7739C>T (p.Ala2580Val) single nucleotide variant Sotos syndrome [RCV003232391]|not provided [RCV001665149] Chr5:177295107 [GRCh38]
Chr5:176722108 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5146+255T>C single nucleotide variant not provided [RCV001551783] Chr5:177260423 [GRCh38]
Chr5:176687424 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6464-289del deletion not provided [RCV001657300] Chr5:177293543 [GRCh38]
Chr5:176720544 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4379-15A>G single nucleotide variant Sotos syndrome [RCV003232393]|not provided [RCV001688023] Chr5:177246663 [GRCh38]
Chr5:176673664 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp) single nucleotide variant Sotos syndrome [RCV003232375] Chr5:177210476 [GRCh38]
Chr5:176637477 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4966+76_4966+77insTTTT insertion not provided [RCV001555102] Chr5:177257224..177257225 [GRCh38]
Chr5:176684225..176684226 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3796+282_3796+295del microsatellite not provided [RCV001560713] Chr5:177212459..177212472 [GRCh38]
Chr5:176639460..176639473 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6010-241C>T single nucleotide variant not provided [RCV001723016] Chr5:177283546 [GRCh38]
Chr5:176710547 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5510-286del deletion not provided [RCV001588638] Chr5:177273386 [GRCh38]
Chr5:176700387 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4302+252G>C single nucleotide variant not provided [RCV001555577] Chr5:177240117 [GRCh38]
Chr5:176667118 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3836A>G (p.Lys1279Arg) single nucleotide variant not provided [RCV001555624] Chr5:177235860 [GRCh38]
Chr5:176662861 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.-18+160T>C single nucleotide variant not provided [RCV001636274] Chr5:177134112 [GRCh38]
Chr5:177134112..177134113 [GRCh38]
Chr5:176561113 [GRCh37]
Chr5:176561113..176561114 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6276G>A (p.Thr2092=) single nucleotide variant not provided [RCV001717618] Chr5:177291971 [GRCh38]
Chr5:176718972 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.-17-340C>T single nucleotide variant not provided [RCV001592095] Chr5:177134747 [GRCh38]
Chr5:176561748 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5147-294T>C single nucleotide variant not provided [RCV001680157] Chr5:177267268 [GRCh38]
Chr5:176694269 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.-17-106A>G single nucleotide variant not provided [RCV001551121] Chr5:177134981 [GRCh38]
Chr5:176561982 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4966+160A>G single nucleotide variant not provided [RCV001589614] Chr5:177257311 [GRCh38]
Chr5:176684312 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1237-87dup duplication not provided [RCV001545131] Chr5:177209548..177209549 [GRCh38]
Chr5:176636549..176636550 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.293A>T (p.Gln98Leu) single nucleotide variant not provided [RCV001548550] Chr5:177135396 [GRCh38]
Chr5:176562397 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2861A>C (p.Lys954Thr) single nucleotide variant not provided [RCV001594528] Chr5:177211260 [GRCh38]
Chr5:176638261 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.858del (p.Ser287fs) deletion not provided [RCV001532054] Chr5:177135960 [GRCh38]
Chr5:176562961 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7933C>T (p.Leu2645=) single nucleotide variant Inborn genetic diseases [RCV002421212]|Sotos syndrome [RCV003232384]|not provided [RCV001575712] Chr5:177295301 [GRCh38]
Chr5:176722302 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.3796+21dup duplication not provided [RCV001566002] Chr5:177212215..177212216 [GRCh38]
Chr5:176639216..176639217 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3796+306dup duplication not provided [RCV001694806] Chr5:177212487..177212488 [GRCh38]
Chr5:176639488..176639489 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6524G>T (p.Cys2175Phe) single nucleotide variant not provided [RCV001570887] Chr5:177293892 [GRCh38]
Chr5:176720893 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6259-59G>A single nucleotide variant not provided [RCV001552790] Chr5:177291895 [GRCh38]
Chr5:176718896 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6464-67A>G single nucleotide variant not provided [RCV001677385] Chr5:177293765 [GRCh38]
Chr5:176720766 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.7752C>T (p.Val2584=) single nucleotide variant not provided [RCV005092623] Chr5:177295120 [GRCh38]
Chr5:176722121 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.530A>G (p.Asp177Gly) single nucleotide variant not provided [RCV005208980] Chr5:177135633 [GRCh38]
Chr5:176562634 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5892+7A>T single nucleotide variant not provided [RCV000873193] Chr5:177280841 [GRCh38]
Chr5:176707842 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5457C>T (p.Asp1819=) single nucleotide variant not provided [RCV000929647] Chr5:177269755 [GRCh38]
Chr5:176696756 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6152-5T>C single nucleotide variant not provided [RCV000905605] Chr5:177288814 [GRCh38]
Chr5:176715815 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1716C>T (p.Ser572=) single nucleotide variant NSD1-related disorder [RCV003965712]|not provided [RCV003424397] Chr5:177210115 [GRCh38]
Chr5:176637116 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4188G>T (p.Thr1396=) single nucleotide variant not provided [RCV000897265] Chr5:177238503 [GRCh38]
Chr5:176665504 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7024T>C (p.Ser2342Pro) single nucleotide variant Sotos syndrome [RCV003232166] Chr5:177294392 [GRCh38]
Chr5:176721393 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3921+9C>T single nucleotide variant not provided [RCV005208857] Chr5:177235954 [GRCh38]
Chr5:176662955 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His) single nucleotide variant Sotos syndrome [RCV003232152]|not provided [RCV001726356] Chr5:177211899 [GRCh38]
Chr5:176638900 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4162G>A (p.Glu1388Lys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000881998] Chr5:177238477 [GRCh38]
Chr5:176665478 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1830A>G (p.Gln610=) single nucleotide variant not provided [RCV000871961] Chr5:177210229 [GRCh38]
Chr5:176637230 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6259-4G>T single nucleotide variant Inborn genetic diseases [RCV002363242]|Sotos syndrome [RCV003232148]|not provided [RCV005092579] Chr5:177291950 [GRCh38]
Chr5:176718951 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5610T>C (p.Tyr1870=) single nucleotide variant Sotos syndrome [RCV003232157]|not provided [RCV005092668] Chr5:177273772 [GRCh38]
Chr5:176700773 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1252T>C (p.Leu418=) single nucleotide variant not provided [RCV005092562]|not specified [RCV005240654] Chr5:177209651 [GRCh38]
Chr5:176636652 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.736G>T (p.Gly246Cys) single nucleotide variant not provided [RCV000963014] Chr5:177135839 [GRCh38]
Chr5:176562840 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2148T>G (p.Thr716=) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000930187] Chr5:177210547 [GRCh38]
Chr5:176637548 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6436T>C (p.Cys2146Arg) single nucleotide variant not provided [RCV005094106] Chr5:177292131 [GRCh38]
Chr5:176719132 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.3770C>T (p.Thr1257Ile) single nucleotide variant not provided [RCV005094128] Chr5:177212169 [GRCh38]
Chr5:176639170 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.2685T>G (p.Ser895Arg) single nucleotide variant not provided [RCV005094166] Chr5:177211084 [GRCh38]
Chr5:176638085 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr) single nucleotide variant not provided [RCV005094076] Chr5:177280626 [GRCh38]
Chr5:176707627 [GRCh37]
Chr5:5q35.3		 pathogenic|uncertain significance
NM_022455.5(NSD1):c.985G>A (p.Ala329Thr) single nucleotide variant not provided [RCV001092133] Chr5:177191941 [GRCh38]
Chr5:176618942 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu) single nucleotide variant Inborn genetic diseases [RCV002348552]|Sotos syndrome [RCV003232215]|not provided [RCV001092134] Chr5:177212091 [GRCh38]
Chr5:176639092 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5768_5769del (p.Thr1923fs) microsatellite not provided [RCV001092135] Chr5:177280708..177280709 [GRCh38]
Chr5:176707709..176707710 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4216del (p.Arg1406fs) deletion not provided [RCV005093362] Chr5:177239777 [GRCh38]
Chr5:176666778 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4055dup (p.Leu1352fs) duplication Sotos syndrome [RCV003232223] Chr5:177238365..177238366 [GRCh38]
Chr5:176665366..176665367 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.709A>G (p.Lys237Glu) single nucleotide variant Sotos syndrome [RCV003232224] Chr5:177135812 [GRCh38]
Chr5:176562813 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter) single nucleotide variant Sotos syndrome [RCV003232226] Chr5:177211571 [GRCh38]
Chr5:176638572 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4709G>C (p.Cys1570Ser) single nucleotide variant not provided [RCV005094132] Chr5:177251797 [GRCh38]
Chr5:176678798 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys) single nucleotide variant Inborn genetic diseases [RCV002379871]|NSD1-related disorder [RCV004751929]|Sotos syndrome [RCV003232249]|not provided [RCV001560579] Chr5:177294720 [GRCh38]
Chr5:176721721 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.2581T>C (p.Leu861=) single nucleotide variant not provided [RCV000933646] Chr5:177210980 [GRCh38]
Chr5:176637981 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6899del (p.Ala2300fs) deletion not provided [RCV000998502] Chr5:177294267 [GRCh38]
Chr5:176721268 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.4302+341_4302+342del microsatellite not provided [RCV001562054] Chr5:177240203..177240204 [GRCh38]
Chr5:176667204..176667205 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5892+26A>G single nucleotide variant not provided [RCV001732508] Chr5:177280860 [GRCh38]
Chr5:176707861 [GRCh37]
Chr5:5q35.3		 benign
NM_172349.5(NSD1):c.-151+112_-151+113del deletion Sotos syndrome [RCV003232169] Chr5:177133265..177133266 [GRCh38]
Chr5:176560266..176560267 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter) single nucleotide variant Sotos syndrome [RCV003232172]|not provided [RCV005092971] Chr5:177238423 [GRCh38]
Chr5:176665424 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6151+221A>G single nucleotide variant not provided [RCV001557950] Chr5:177284149 [GRCh38]
Chr5:176711150 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3056G>A (p.Arg1019His) single nucleotide variant Inborn genetic diseases [RCV004952984]|Sotos syndrome [RCV003232380]|not provided [RCV001563446] Chr5:177211455 [GRCh38]
Chr5:176638456 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4641+98A>G single nucleotide variant not provided [RCV001717548] Chr5:177248422 [GRCh38]
Chr5:176675423 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4765+90G>A single nucleotide variant not provided [RCV001717555] Chr5:177251943 [GRCh38]
Chr5:176678944 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.3874T>A (p.Phe1292Ile) single nucleotide variant not provided [RCV003234353] Chr5:177235898 [GRCh38]
Chr5:176662899 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4966+96del deletion not provided [RCV001595959] Chr5:177257229 [GRCh38]
Chr5:176684230 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5855G>A (p.Arg1952Gln) single nucleotide variant not provided [RCV001553179] Chr5:177280797 [GRCh38]
Chr5:176707798 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176718361-176957659)x3 copy number gain not provided [RCV002472682] Chr5:176718361..176957659 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4967-160T>G single nucleotide variant not provided [RCV001640858] Chr5:177259829 [GRCh38]
Chr5:176686830 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1894C>A (p.Arg632=) single nucleotide variant not provided [RCV001549546] Chr5:177210293 [GRCh38]
Chr5:176637294 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met) single nucleotide variant Inborn genetic diseases [RCV002568354]|Sotos syndrome [RCV003232379]|not provided [RCV001555706] Chr5:177288867 [GRCh38]
Chr5:176715868 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5552A>C (p.Gln1851Pro) single nucleotide variant not provided [RCV001561237] Chr5:177273714 [GRCh38]
Chr5:176700715 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.1064-32C>G single nucleotide variant not provided [RCV001636501] Chr5:177204088 [GRCh38]
Chr5:176631089 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.22C>T (p.Pro8Ser) single nucleotide variant Inborn genetic diseases [RCV003276166] Chr5:177135125 [GRCh38]
Chr5:176562126 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser) single nucleotide variant Sotos syndrome [RCV003232277] Chr5:177260088 [GRCh38]
Chr5:176687089 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs) deletion Sotos syndrome [RCV003232278] Chr5:177211816..177211817 [GRCh38]
Chr5:176638817..176638818 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5387T>G (p.Val1796Gly) single nucleotide variant not provided [RCV004819132] Chr5:177269685 [GRCh38]
Chr5:176696686 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2998del (p.Ser1000fs) deletion not provided [RCV001008225] Chr5:177211397 [GRCh38]
Chr5:176638398 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5622+100G>A single nucleotide variant not provided [RCV001530881] Chr5:177273884 [GRCh38]
Chr5:176700885 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4192+48A>T single nucleotide variant not provided [RCV001620973] Chr5:177238555 [GRCh38]
Chr5:176665556 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.3796+282_3796+296del deletion not provided [RCV001723202] Chr5:177212474..177212488 [GRCh38]
Chr5:176639475..176639489 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5510-147G>A single nucleotide variant not provided [RCV001639675] Chr5:177273525 [GRCh38]
Chr5:176700526 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6152-171T>C single nucleotide variant not provided [RCV001545651] Chr5:177288648 [GRCh38]
Chr5:176715649 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5147-45C>G single nucleotide variant not provided [RCV001643311] Chr5:177267517 [GRCh38]
Chr5:176694518 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2615T>G (p.Leu872Ter) single nucleotide variant Neurodevelopmental disorder [RCV003389065]|not provided [RCV001008012] Chr5:177211014 [GRCh38]
Chr5:176638015 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5304-190T>G single nucleotide variant not provided [RCV001545127] Chr5:177269412 [GRCh38]
Chr5:176696413 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4766-158A>G single nucleotide variant not provided [RCV001620201] Chr5:177256793 [GRCh38]
Chr5:176683794 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5304-183A>G single nucleotide variant not provided [RCV001722020] Chr5:177269419 [GRCh38]
Chr5:176696420 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6463+196G>A single nucleotide variant not provided [RCV001677080] Chr5:177292354 [GRCh38]
Chr5:176719355 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5304-48G>T single nucleotide variant not provided [RCV001658820] Chr5:177269554 [GRCh38]
Chr5:176696555 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3922-40A>G single nucleotide variant not provided [RCV001656884] Chr5:177238197 [GRCh38]
Chr5:176665198 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.3922-157del deletion not provided [RCV001614962] Chr5:177238079 [GRCh38]
Chr5:176665080 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6464-290dup duplication not provided [RCV001621133] Chr5:177293534..177293535 [GRCh38]
Chr5:176720535..176720536 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5303+113T>G single nucleotide variant not provided [RCV001638311] Chr5:177267831 [GRCh38]
Chr5:176694832 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.3580_3581insT (p.Asp1194fs) insertion not provided [RCV001008284] Chr5:177211979..177211980 [GRCh38]
Chr5:176638980..176638981 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5622+187C>T single nucleotide variant not provided [RCV001674877] Chr5:177273971 [GRCh38]
Chr5:176700972 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2029T>C (p.Ser677Pro) single nucleotide variant Intellectual disability [RCV001251864]|not provided [RCV005094204] Chr5:177210428 [GRCh38]
Chr5:176637429 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp) single nucleotide variant Sotos syndrome [RCV003232268] Chr5:177294019 [GRCh38]
Chr5:176721020 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe) single nucleotide variant not provided [RCV005093379] Chr5:177293901 [GRCh38]
Chr5:176720902 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.4702del (p.Leu1568fs) deletion not provided [RCV005093381] Chr5:177251789 [GRCh38]
Chr5:176678790 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6543del (p.Cys2183fs) deletion not provided [RCV005093360] Chr5:177293910 [GRCh38]
Chr5:176720911 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter) single nucleotide variant Sotos syndrome [RCV003232202]|not provided [RCV003236864] Chr5:177135248 [GRCh38]
Chr5:176562249 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2083A>G (p.Arg695Gly) single nucleotide variant Inborn genetic diseases [RCV002555856]|not provided [RCV005093367] Chr5:177210482 [GRCh38]
Chr5:176637483 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6010-104G>A single nucleotide variant not provided [RCV001669836] Chr5:177283683 [GRCh38]
Chr5:176710684 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1237-92del deletion not provided [RCV001567652] Chr5:177209529 [GRCh38]
Chr5:176636530 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3796+292del deletion not provided [RCV001671749] Chr5:177212487 [GRCh38]
Chr5:176639488 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.7367T>C (p.Met2456Thr) single nucleotide variant Inborn genetic diseases [RCV002579447]|not provided [RCV001585291] Chr5:177294735 [GRCh38]
Chr5:176721736 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4302+133A>G single nucleotide variant not provided [RCV001589541] Chr5:177239998 [GRCh38]
Chr5:176666999 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6655C>T (p.Arg2219Cys) single nucleotide variant not provided [RCV001583173] Chr5:177294023 [GRCh38]
Chr5:176721024 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2963C>T (p.Ser988Phe) single nucleotide variant Sotos syndrome [RCV003232376] Chr5:177211362 [GRCh38]
Chr5:176638363 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7852G>A (p.Val2618Ile) single nucleotide variant Sotos syndrome [RCV003232392]|not provided [RCV001694722] Chr5:177295220 [GRCh38]
Chr5:176722221 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.5303+23A>G single nucleotide variant not provided [RCV001587793] Chr5:177267741 [GRCh38]
Chr5:176694742 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3796+290del deletion not provided [RCV001586520] Chr5:177212485 [GRCh38]
Chr5:176639486 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5147-82T>A single nucleotide variant not provided [RCV001668015] Chr5:177267480 [GRCh38]
Chr5:177267480..177267481 [GRCh38]
Chr5:176694481 [GRCh37]
Chr5:176694481..176694482 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val) single nucleotide variant Sotos syndrome [RCV003232387]|not provided [RCV005094833] Chr5:177273711 [GRCh38]
Chr5:176700712 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4966+81T>C single nucleotide variant not provided [RCV001610016] Chr5:177257232 [GRCh38]
Chr5:176684233 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6009+201_6009+203dup duplication not provided [RCV001584760] Chr5:177282781..177282782 [GRCh38]
Chr5:176709782..176709783 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3797-66C>A single nucleotide variant not provided [RCV001584847] Chr5:177235755 [GRCh38]
Chr5:176662756 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3796+306del deletion not provided [RCV001714412] Chr5:177212488 [GRCh38]
Chr5:176639489 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter) single nucleotide variant not provided [RCV001568187] Chr5:177209717 [GRCh38]
Chr5:176636718 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5893-133G>A single nucleotide variant not provided [RCV001666501] Chr5:177282332 [GRCh38]
Chr5:176709333 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1095C>T (p.Tyr365=) single nucleotide variant Sotos syndrome [RCV003232377]|not provided [RCV001547143] Chr5:177204151 [GRCh38]
Chr5:176631152 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.5303+252del deletion not provided [RCV001670836] Chr5:177267954 [GRCh38]
Chr5:176694955 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4766-196C>T single nucleotide variant not provided [RCV001613730] Chr5:177256755 [GRCh38]
Chr5:176683756 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6258+47C>G single nucleotide variant not provided [RCV001669978] Chr5:177288972 [GRCh38]
Chr5:176715973 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.7057C>T (p.Pro2353Ser) single nucleotide variant not provided [RCV001650783] Chr5:177294425 [GRCh38]
Chr5:176721426 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5462G>A (p.Ser1821Asn) single nucleotide variant not provided [RCV005094108] Chr5:177269760 [GRCh38]
Chr5:176696761 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2032A>G (p.Met678Val) single nucleotide variant Inborn genetic diseases [RCV005385002]|NSD1-related disorder [RCV004751932]|Sotos syndrome [RCV003232258]|not provided [RCV001751466] Chr5:177210431 [GRCh38]
Chr5:176637432 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg) single nucleotide variant Sotos syndrome [RCV003232188]|not provided [RCV004597951] Chr5:177257032 [GRCh38]
Chr5:176684033 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6488_6498del (p.Gln2163fs) deletion not provided [RCV005094087] Chr5:177293852..177293862 [GRCh38]
Chr5:176720853..176720863 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2279G>C (p.Ser760Thr) single nucleotide variant not provided [RCV005094148] Chr5:177210678 [GRCh38]
Chr5:176637679 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter) single nucleotide variant Sotos syndrome [RCV003232237]|not provided [RCV005094095] Chr5:177210293 [GRCh38]
Chr5:176637294 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5121T>C (p.Val1707=) single nucleotide variant not provided [RCV005093331] Chr5:177260143 [GRCh38]
Chr5:176687144 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.2097dup (p.Gln700fs) duplication not provided [RCV005094105] Chr5:177210492..177210493 [GRCh38]
Chr5:176637493..176637494 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5243_5244del (p.Asp1747_Cys1748insTer) deletion not provided [RCV005094092] Chr5:177267657..177267658 [GRCh38]
Chr5:176694658..176694659 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala) single nucleotide variant Inborn genetic diseases [RCV004960397]|Sotos syndrome [RCV003232195]|not provided [RCV001546301] Chr5:177294512 [GRCh38]
Chr5:176721513 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.1052C>G (p.Ser351Ter) single nucleotide variant not provided [RCV001171972] Chr5:177192008 [GRCh38]
Chr5:176619009 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=) single nucleotide variant Inborn genetic diseases [RCV002327489]|NSD1-related disorder [RCV004751920]|Sotos syndrome [RCV003232232]|not provided [RCV005094084] Chr5:177244224 [GRCh38]
Chr5:176671225 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp) single nucleotide variant not provided [RCV005093358] Chr5:177280627 [GRCh38]
Chr5:176707628 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6683_6684delinsCT (p.Leu2228Pro) indel not provided [RCV005094085] Chr5:177294051..177294052 [GRCh38]
Chr5:176721052..176721053 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4843T>A (p.Tyr1615Asn) single nucleotide variant not provided [RCV005094138] Chr5:177257028 [GRCh38]
Chr5:176684029 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1288C>G (p.Gln430Glu) single nucleotide variant not provided [RCV005094144] Chr5:177209687 [GRCh38]
Chr5:176636688 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr) single nucleotide variant Sotos syndrome [RCV003232227] Chr5:177211233 [GRCh38]
Chr5:176638234 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6413G>C (p.Cys2138Ser) single nucleotide variant not provided [RCV005094073] Chr5:177292108 [GRCh38]
Chr5:176719109 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3271dup (p.Leu1091fs) duplication Sotos syndrome [RCV003232269] Chr5:177211666..177211667 [GRCh38]
Chr5:176638667..176638668 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7669G>C (p.Gly2557Arg) single nucleotide variant Microcephaly [RCV001252882] Chr5:177295037 [GRCh38]
Chr5:176722038 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 copy number loss Sotos syndrome [RCV003232270] Chr5:175346695..177469711 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.5843G>A (p.Arg1948His) single nucleotide variant Sotos syndrome [RCV003232272] Chr5:177280785 [GRCh38]
Chr5:176707786 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.769C>T (p.Pro257Ser) single nucleotide variant Sotos syndrome [RCV003232271] Chr5:177135872 [GRCh38]
Chr5:176562873 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.846A>C (p.Pro282=) single nucleotide variant Intellectual disability [RCV001251865]|NSD1-related disorder [RCV003953606]|Sotos syndrome [RCV005038016]|not provided [RCV005094205] Chr5:177135949 [GRCh38]
Chr5:176562950 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.3788del (p.Pro1263fs) deletion Inborn genetic diseases [RCV001267333] Chr5:177212185 [GRCh38]
Chr5:176639186 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2209dup (p.Thr737fs) duplication Inborn genetic diseases [RCV001267392] Chr5:177210607..177210608 [GRCh38]
Chr5:176637608..176637609 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3 copy number gain not provided [RCV001258712] Chr5:175570677..177114151 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.1852A>G (p.Lys618Glu) single nucleotide variant not provided [RCV002284776] Chr5:177210251 [GRCh38]
Chr5:176637252 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln) single nucleotide variant Sotos syndrome [RCV003232327]|not provided [RCV005094460] Chr5:177294042 [GRCh38]
Chr5:176721043 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.2944G>T (p.Gly982Trp) single nucleotide variant Sotos syndrome [RCV003232276]|not provided [RCV005094255] Chr5:177211343 [GRCh38]
Chr5:176638344 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3891del (p.Lys1297fs) deletion Inborn genetic diseases [RCV001267155] Chr5:177235910 [GRCh38]
Chr5:176662911 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu) single nucleotide variant not provided [RCV001579829] Chr5:177280683 [GRCh38]
Chr5:176707684 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.3796+305_3796+306dup duplication not provided [RCV001663079] Chr5:177212487..177212488 [GRCh38]
Chr5:176639488..176639489 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.7562C>A (p.Ala2521Asp) single nucleotide variant Inborn genetic diseases [RCV004952971]|not provided [RCV001536844] Chr5:177294930 [GRCh38]
Chr5:176721931 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter) single nucleotide variant Sotos syndrome [RCV003232274] Chr5:177212085 [GRCh38]
Chr5:176639086 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4966+30T>C single nucleotide variant not provided [RCV001540300] Chr5:177257181 [GRCh38]
Chr5:176684182 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4970G>A (p.Arg1657Gln) single nucleotide variant Sotos syndrome [RCV003232293] Chr5:177259992 [GRCh38]
Chr5:176686993 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6206_6209del (p.Val2069fs) deletion Sotos syndrome [RCV003232275]|not provided [RCV005057178] Chr5:177288871..177288874 [GRCh38]
Chr5:176715872..176715875 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4303-1G>C single nucleotide variant not provided [RCV001268130] Chr5:177244194 [GRCh38]
Chr5:176671195 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3496del (p.Arg1166fs) deletion not provided [RCV001268823] Chr5:177211893 [GRCh38]
Chr5:176638894 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7159C>G (p.Pro2387Ala) single nucleotide variant Sotos syndrome [RCV003232288]|not provided [RCV001760333] Chr5:177294527 [GRCh38]
Chr5:176721528 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2555_2556del (p.Ile852fs) deletion Inborn genetic diseases [RCV001267561] Chr5:177210953..177210954 [GRCh38]
Chr5:176637954..176637955 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly) single nucleotide variant Sotos syndrome [RCV003232281] Chr5:177283790 [GRCh38]
Chr5:176710791 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu) single nucleotide variant Sotos syndrome [RCV003232282] Chr5:177294015 [GRCh38]
Chr5:176721016 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.91C>G (p.Pro31Ala) single nucleotide variant not provided [RCV001539286] Chr5:177135194 [GRCh38]
Chr5:176562195 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5474dup (p.Met1826fs) duplication Sotos syndrome [RCV003232273] Chr5:177269770..177269771 [GRCh38]
Chr5:176696771..176696772 [GRCh37]
Chr5:5q35.3		 likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3 copy number gain not provided [RCV001258713] Chr5:175394616..177436413 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.1763A>G (p.Asp588Gly) single nucleotide variant not provided [RCV001581415] Chr5:177210162 [GRCh38]
Chr5:176637163 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4966+6G>A single nucleotide variant Sotos syndrome [RCV003232319]|not provided [RCV001587360] Chr5:177257157 [GRCh38]
Chr5:176684158 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro) single nucleotide variant Sotos syndrome [RCV003232312]|not provided [RCV005094436] Chr5:177238280 [GRCh38]
Chr5:176665281 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.788_789del (p.Thr263fs) microsatellite Sotos syndrome [RCV003232320]|not provided [RCV005057297] Chr5:177135888..177135889 [GRCh38]
Chr5:176562889..176562890 [GRCh37]
Chr5:5q35.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6475T>A (p.Cys2159Ser) single nucleotide variant not provided [RCV005057299] Chr5:177293843 [GRCh38]
Chr5:176720844 [GRCh37]
Chr5:5q35.3		 pathogenic|uncertain significance
NM_022455.5(NSD1):c.6464-1G>A single nucleotide variant not provided [RCV005057237] Chr5:177293831 [GRCh38]
Chr5:176720832 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4521_4522delinsTT (p.Ala1508Ser) indel not provided [RCV005094447] Chr5:177248204..177248205 [GRCh38]
Chr5:176675205..176675206 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2425G>A (p.Glu809Lys) single nucleotide variant not provided [RCV001310887] Chr5:177210824 [GRCh38]
Chr5:176637825 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.4561C>A (p.His1521Asn) single nucleotide variant not provided [RCV005057294] Chr5:177248244 [GRCh38]
Chr5:176675245 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2051T>G (p.Ile684Arg) single nucleotide variant Sotos syndrome [RCV003232307] Chr5:177210450 [GRCh38]
Chr5:176637451 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4606G>A (p.Gly1536Ser) single nucleotide variant not provided [RCV001310888] Chr5:177248289 [GRCh38]
Chr5:176675290 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7258C>T (p.Pro2420Ser) single nucleotide variant not provided [RCV004598818] Chr5:177294626 [GRCh38]
Chr5:176721627 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter) single nucleotide variant Sotos syndrome [RCV003232343] Chr5:177269743 [GRCh38]
Chr5:176696744 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5066G>T (p.Cys1689Phe) single nucleotide variant not provided [RCV005057259] Chr5:177260088 [GRCh38]
Chr5:176687089 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg) single nucleotide variant Sotos syndrome [RCV003232304]|not provided [RCV005094396] Chr5:177294699 [GRCh38]
Chr5:176721700 [GRCh37]
Chr5:5q35.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5120T>A (p.Val1707Asp) single nucleotide variant not provided [RCV005057329] Chr5:177260142 [GRCh38]
Chr5:176687143 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp) single nucleotide variant Sotos syndrome [RCV003232323]|not provided [RCV005094453] Chr5:177211520 [GRCh38]
Chr5:176638521 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.2429G>T (p.Cys810Phe) single nucleotide variant not provided [RCV005057250] Chr5:177210828 [GRCh38]
Chr5:176637829 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5204A>G (p.Asn1735Ser) single nucleotide variant Sotos syndrome [RCV003232325]|not provided [RCV005094456] Chr5:177267619 [GRCh38]
Chr5:176694620 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5312C>A (p.Pro1771Gln) single nucleotide variant not provided [RCV002284650] Chr5:177269610 [GRCh38]
Chr5:176696611 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.197dup (p.Ser67fs) duplication Sotos syndrome [RCV003232298] Chr5:177135298..177135299 [GRCh38]
Chr5:176562299..176562300 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3599G>A (p.Arg1200Gln) single nucleotide variant Inborn genetic diseases [RCV002548623]|not provided [RCV005094497] Chr5:177211998 [GRCh38]
Chr5:176638999 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro) single nucleotide variant Sotos syndrome [RCV003232296]|not provided [RCV005057243] Chr5:177295046 [GRCh38]
Chr5:176722047 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.6829T>A (p.Leu2277Met) single nucleotide variant not provided [RCV005094500] Chr5:177294197 [GRCh38]
Chr5:176721198 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6454C>G (p.Arg2152Gly) single nucleotide variant not provided [RCV005094394] Chr5:177292149 [GRCh38]
Chr5:176719150 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6625G>T (p.Gly2209Trp) single nucleotide variant not provided [RCV005057228] Chr5:177293993 [GRCh38]
Chr5:176720994 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7922C>T (p.Ala2641Val) single nucleotide variant Sotos syndrome [RCV003232313]|not provided [RCV005094437] Chr5:177295290 [GRCh38]
Chr5:176722291 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp) single nucleotide variant Sotos syndrome [RCV003232289]|not provided [RCV005094359] Chr5:177209972 [GRCh38]
Chr5:176636973 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.4378+1G>T single nucleotide variant Sotos syndrome [RCV003232308] Chr5:177244271 [GRCh38]
Chr5:176671272 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.4:c.5623-?_c.8091+?del deletion Sotos syndrome [RCV003232280]   likely pathogenic
NM_022455.5(NSD1):c.1801A>G (p.Lys601Glu) single nucleotide variant Sotos syndrome [RCV003232297]|not provided [RCV005094376] Chr5:177210200 [GRCh38]
Chr5:176637201 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.6655del (p.Arg2219fs) deletion Neurodevelopmental disorder [RCV001374930] Chr5:177294022 [GRCh38]
Chr5:176721023 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.1129T>C (p.Trp377Arg) single nucleotide variant not provided [RCV003229890] Chr5:177204185 [GRCh38]
Chr5:176631186 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2352_2353delinsAA (p.Pro785Thr) indel not provided [RCV005094446] Chr5:177210751..177210752 [GRCh38]
Chr5:176637752..176637753 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.56C>T (p.Pro19Leu) single nucleotide variant Sotos syndrome [RCV003232309] Chr5:177135159 [GRCh38]
Chr5:176562160 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3109C>T (p.Gln1037Ter) single nucleotide variant Sotos syndrome [RCV003232372] Chr5:177211508 [GRCh38]
Chr5:176638509 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5067C>T (p.Cys1689=) single nucleotide variant not provided [RCV005057441] Chr5:177260089 [GRCh38]
Chr5:176687090 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5967A>G (p.Gln1989=) single nucleotide variant Inborn genetic diseases [RCV002359146]|not provided [RCV005094669] Chr5:177282539 [GRCh38]
Chr5:176709540 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.5398G>C (p.Gly1800Arg) single nucleotide variant not provided [RCV005094512] Chr5:177269696 [GRCh38]
Chr5:176696697 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3021T>C (p.Ala1007=) single nucleotide variant Inborn genetic diseases [RCV002439210]|NSD1-related disorder [RCV003956173]|Sotos syndrome [RCV003232370]|not provided [RCV001655758] Chr5:177211420 [GRCh38]
Chr5:176638421 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.1800A>C (p.Ser600=) single nucleotide variant not provided [RCV005094638] Chr5:177210199 [GRCh38]
Chr5:176637200 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3254del (p.Pro1085fs) deletion not provided [RCV005094523] Chr5:177211652 [GRCh38]
Chr5:176638653 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5532G>A (p.Arg1844=) single nucleotide variant NSD1-related disorder [RCV003946128]|not provided [RCV005094571] Chr5:177273694 [GRCh38]
Chr5:176700695 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.672G>A (p.Ser224=) single nucleotide variant not provided [RCV005094634] Chr5:177135775 [GRCh38]
Chr5:176562776 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter) single nucleotide variant Sotos syndrome [RCV003232351] Chr5:177210227 [GRCh38]
Chr5:176637228 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3145_3146dup (p.Thr1050fs) duplication not provided [RCV005094521] Chr5:177211542..177211543 [GRCh38]
Chr5:176638543..176638544 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5934A>G (p.Glu1978=) single nucleotide variant not provided [RCV005094579] Chr5:177282506 [GRCh38]
Chr5:176709507 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2674del (p.Ser892fs) deletion Sotos syndrome [RCV003232347] Chr5:177211072 [GRCh38]
Chr5:176638073 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1508_1509insG (p.Ser503_Asp504insTer) insertion Sotos syndrome 1 [RCV001384593] Chr5:177209907..177209908 [GRCh38]
Chr5:176636908..176636909 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1992A>G (p.Glu664=) single nucleotide variant Sotos syndrome [RCV003232357]|not provided [RCV005094575] Chr5:177210391 [GRCh38]
Chr5:176637392 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4655T>A (p.Leu1552Ter) single nucleotide variant not provided [RCV005057351] Chr5:177251743 [GRCh38]
Chr5:176678744 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.928-8G>C single nucleotide variant Sotos syndrome [RCV003232360] Chr5:177191876 [GRCh38]
Chr5:176618877 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5190T>G (p.His1730Gln) single nucleotide variant not provided [RCV005057360] Chr5:177267605 [GRCh38]
Chr5:176694606 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5753_5754del (p.Leu1917_Tyr1918insTer) deletion not provided [RCV005057353] Chr5:177280694..177280695 [GRCh38]
Chr5:176707695..176707696 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7942_7980del (p.Ser2648_Gln2660del) deletion not provided [RCV005094567] Chr5:177295302..177295340 [GRCh38]
Chr5:176722303..176722341 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4672dup (p.Cys1558fs) duplication not provided [RCV005094519] Chr5:177251759..177251760 [GRCh38]
Chr5:176678760..176678761 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7164G>A (p.Pro2388=) single nucleotide variant not provided [RCV003883637] Chr5:177294532 [GRCh38]
Chr5:176721533 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4514dup (p.His1505fs) duplication not provided [RCV005057357] Chr5:177248196..177248197 [GRCh38]
Chr5:176675197..176675198 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4220_4221del (p.Lys1407fs) deletion Sotos syndrome [RCV003232394] Chr5:177239781..177239782 [GRCh38]
Chr5:176666782..176666783 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1782T>C (p.Pro594=) single nucleotide variant not provided [RCV001675338] Chr5:177210181 [GRCh38]
Chr5:176637182 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=) single nucleotide variant Inborn genetic diseases [RCV002359144]|Sotos syndrome [RCV003232369]|not provided [RCV001685389] Chr5:177283822 [GRCh38]
Chr5:176710823 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.6464-298G>C single nucleotide variant not provided [RCV001708331] Chr5:177293534 [GRCh38]
Chr5:176720535 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs) deletion Sotos syndrome [RCV003232389]|not provided [RCV001585420] Chr5:177291983..177291986 [GRCh38]
Chr5:176718984..176718987 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic|not provided
NM_022455.5(NSD1):c.4497+329dup duplication not provided [RCV001590136] Chr5:177247124..177247125 [GRCh38]
Chr5:176674125..176674126 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3796+34dup duplication not provided [RCV001652791] Chr5:177212216..177212217 [GRCh38]
Chr5:176639217..176639218 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2586C>T (p.Ser862=) single nucleotide variant not provided [RCV005094568] Chr5:177210985 [GRCh38]
Chr5:176637986 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6795C>T (p.Ser2265=) single nucleotide variant Inborn genetic diseases [RCV002368366]|NSD1-related disorder [RCV004751983]|Sotos syndrome [RCV003232359]|not provided [RCV005094582] Chr5:177294163 [GRCh38]
Chr5:176721164 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6294del (p.Lys2098fs) deletion not provided [RCV005094516] Chr5:177291987 [GRCh38]
Chr5:176718988 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6068_6151+174del deletion not provided [RCV005094513] Chr5:177283844..177284101 [GRCh38]
Chr5:176710845..176711102 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2427G>A (p.Glu809=) single nucleotide variant Inborn genetic diseases [RCV002449344]|NSD1-related disorder [RCV004752001]|not provided [RCV002282557] Chr5:177210826 [GRCh38]
Chr5:176637827 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.4860C>T (p.Val1620=) single nucleotide variant Inborn genetic diseases [RCV002342016]|not provided [RCV005094600] Chr5:177257045 [GRCh38]
Chr5:176684046 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter) single nucleotide variant Sotos syndrome [RCV003232344]|not provided [RCV002243175] Chr5:177211044 [GRCh38]
Chr5:176638045 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3364dup (p.Ile1122fs) duplication Non-immune hydrops fetalis [RCV001376005] Chr5:177211759..177211760 [GRCh38]
Chr5:176638760..176638761 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2007C>T (p.Phe669=) single nucleotide variant Inborn genetic diseases [RCV002420876]|Sotos syndrome [RCV003232352]|not provided [RCV004720899] Chr5:177210406 [GRCh38]
Chr5:176637407 [GRCh37]
Chr5:5q35.3		 likely benign
NC_000005.9:g.(?_176662802)_(176662966_?)dup duplication Sotos syndrome [RCV003232339] Chr5:176662802..176662966 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3201A>G (p.Val1067=) single nucleotide variant not provided [RCV005094623] Chr5:177211600 [GRCh38]
Chr5:176638601 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2297C>G (p.Ser766Trp) single nucleotide variant not provided [RCV004774636]|not specified [RCV002248058] Chr5:177210696 [GRCh38]
Chr5:176637697 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln) single nucleotide variant Sotos syndrome [RCV003232561] Chr5:177293854 [GRCh38]
Chr5:176720855 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6542C>T (p.Ser2181Phe) single nucleotide variant Holoprosencephaly 2 [RCV001730119]|not provided [RCV005094907] Chr5:177293910 [GRCh38]
Chr5:176720911 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.1291T>C (p.Tyr431His) single nucleotide variant Sotos syndrome [RCV003232566] Chr5:177209690 [GRCh38]
Chr5:176636691 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4759_4765+2del deletion See cases [RCV002252962] Chr5:177251845..177251853 [GRCh38]
Chr5:176678846..176678854 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5824_5828del (p.Pro1942fs) deletion Sotos syndrome [RCV003232396] Chr5:177280766..177280770 [GRCh38]
Chr5:176707767..176707771 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2267A>T (p.Asn756Ile) single nucleotide variant Sotos syndrome [RCV003232556] Chr5:177210666 [GRCh38]
Chr5:176637667 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6341C>G (p.Thr2114Arg) single nucleotide variant not specified [RCV002250154] Chr5:177292036 [GRCh38]
Chr5:176719037 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter) single nucleotide variant Sotos syndrome [RCV003232563] Chr5:177211392 [GRCh38]
Chr5:176638393 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5303+1G>A single nucleotide variant Sotos syndrome [RCV003232564] Chr5:177267719 [GRCh38]
Chr5:176694720 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6614A>C (p.His2205Pro) single nucleotide variant not provided [RCV001756828] Chr5:177293982 [GRCh38]
Chr5:176720983 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.2947G>A (p.Gly983Ser) single nucleotide variant not provided [RCV003325596]|not specified [RCV002238662] Chr5:177211346 [GRCh38]
Chr5:176638347 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3 copy number gain not provided [RCV001832980] Chr5:176497464..177776599 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.4748G>T (p.Cys1583Phe) single nucleotide variant not provided [RCV001763402] Chr5:177251836 [GRCh38]
Chr5:176678837 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser) single nucleotide variant Sotos syndrome [RCV003232573] Chr5:177280680 [GRCh38]
Chr5:176707681 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5422C>T (p.His1808Tyr) single nucleotide variant not provided [RCV002275839] Chr5:177269720 [GRCh38]
Chr5:176696721 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg) single nucleotide variant Sotos syndrome [RCV003232570] Chr5:177288875 [GRCh38]
Chr5:176715876 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2948dup (p.Gly983_Asp984insTer) duplication Sotos syndrome [RCV003232575] Chr5:177211342..177211343 [GRCh38]
Chr5:176638343..176638344 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2408C>G (p.Pro803Arg) single nucleotide variant not provided [RCV002273418] Chr5:177210807 [GRCh38]
Chr5:176637808 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) single nucleotide variant Inborn genetic diseases [RCV002324194]|Sotos syndrome [RCV003232411]|not provided [RCV003237635] Chr5:177211577 [GRCh38]
Chr5:176638578 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.626G>A (p.Ser209Asn) single nucleotide variant not provided [RCV003237633] Chr5:177135729 [GRCh38]
Chr5:176562730 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1325G>A (p.Cys442Tyr) single nucleotide variant Sotos syndrome [RCV003232404]|not provided [RCV001758633] Chr5:177209724 [GRCh38]
Chr5:176636725 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1338A>T (p.Ser446=) single nucleotide variant not provided [RCV003237640] Chr5:177209737 [GRCh38]
Chr5:176636738 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6443A>G (p.Asn2148Ser) single nucleotide variant not provided [RCV001763184] Chr5:177292138 [GRCh38]
Chr5:176719139 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7511T>C (p.Val2504Ala) single nucleotide variant not provided [RCV003237630] Chr5:177294879 [GRCh38]
Chr5:176721880 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6767C>G (p.Ala2256Gly) single nucleotide variant not provided [RCV003237632] Chr5:177294135 [GRCh38]
Chr5:176721136 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3171T>C (p.Asn1057=) single nucleotide variant not provided [RCV001733079] Chr5:177211570 [GRCh38]
Chr5:176638571 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5789G>A (p.Arg1930His) single nucleotide variant Sotos syndrome [RCV003232399]|not provided [RCV001770924] Chr5:177280731 [GRCh38]
Chr5:176707732 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His) single nucleotide variant Sotos syndrome [RCV003232400]|not provided [RCV001771025] Chr5:177280683 [GRCh38]
Chr5:176707684 [GRCh37]
Chr5:5q35.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.8032C>G (p.Leu2678Val) single nucleotide variant not provided [RCV001771121] Chr5:177295400 [GRCh38]
Chr5:176722401 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1727dup (p.Asn576fs) duplication Sotos syndrome [RCV003232416] Chr5:177210120..177210121 [GRCh38]
Chr5:176637121..176637122 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2668T>G (p.Phe890Val) single nucleotide variant not provided [RCV001752320] Chr5:177211067 [GRCh38]
Chr5:176638068 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1646A>C (p.Asn549Thr) single nucleotide variant Inborn genetic diseases [RCV002543981]|not provided [RCV001765153] Chr5:177210045 [GRCh38]
Chr5:176637046 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7072G>C (p.Asp2358His) single nucleotide variant not provided [RCV003237631] Chr5:177294440 [GRCh38]
Chr5:176721441 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4890C>G (p.Asn1630Lys) single nucleotide variant not provided [RCV003237634] Chr5:177257075 [GRCh38]
Chr5:176684076 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2816C>T (p.Pro939Leu) single nucleotide variant not provided [RCV003237636] Chr5:177211215 [GRCh38]
Chr5:176638216 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.653G>T (p.Arg218Ile) single nucleotide variant Inborn genetic diseases [RCV005374788]|NSD1-related disorder [RCV004752044]|Sotos syndrome [RCV003232401]|not provided [RCV001763389] Chr5:177135756 [GRCh38]
Chr5:176562757 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7631C>T (p.Ala2544Val) single nucleotide variant not provided [RCV001776443] Chr5:177294999 [GRCh38]
Chr5:176722000 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3418G>A (p.Val1140Ile) single nucleotide variant Sotos syndrome [RCV003232423]|not provided [RCV005095146] Chr5:177211817 [GRCh38]
Chr5:176638818 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4949A>G (p.Asn1650Ser) single nucleotide variant Inborn genetic diseases [RCV002334656]|NSD1-related disorder [RCV003910992]|not provided [RCV001762816]|not specified [RCV005408993] Chr5:177257134 [GRCh38]
Chr5:176684135 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.2225C>G (p.Pro742Arg) single nucleotide variant not provided [RCV003237637] Chr5:177210624 [GRCh38]
Chr5:176637625 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2174C>T (p.Thr725Met) single nucleotide variant Sotos syndrome [RCV003232414]|not provided [RCV003237638] Chr5:177210573 [GRCh38]
Chr5:176637574 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.105T>G (p.Gly35=) single nucleotide variant not provided [RCV001773814] Chr5:177135208 [GRCh38]
Chr5:176562209 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6430G>A (p.Ala2144Thr) single nucleotide variant not provided [RCV001752777] Chr5:177292125 [GRCh38]
Chr5:176719126 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4020A>G (p.Glu1340=) single nucleotide variant not provided [RCV001754307] Chr5:177238335 [GRCh38]
Chr5:176665336 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3358G>C (p.Gly1120Arg) single nucleotide variant not provided [RCV001754391] Chr5:177211757 [GRCh38]
Chr5:176638758 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7259C>T (p.Pro2420Leu) single nucleotide variant not provided [RCV001799993] Chr5:177294627 [GRCh38]
Chr5:176721628 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3894_3896del (p.Lys1300del) deletion not provided [RCV001774591] Chr5:177235917..177235919 [GRCh38]
Chr5:176662918..176662920 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3323T>C (p.Val1108Ala) single nucleotide variant not provided [RCV001772867] Chr5:177211722 [GRCh38]
Chr5:176638723 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4826C>T (p.Pro1609Leu) single nucleotide variant not provided [RCV001774691] Chr5:177257011 [GRCh38]
Chr5:176684012 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7949_7950delinsTT (p.Trp2650Phe) indel not provided [RCV001766913] Chr5:177295317..177295318 [GRCh38]
Chr5:176722318..176722319 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4701C>A (p.His1567Gln) single nucleotide variant not provided [RCV001773315] Chr5:177251789 [GRCh38]
Chr5:176678790 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1204G>C (p.Gly402Arg) single nucleotide variant not provided [RCV001764970] Chr5:177204260 [GRCh38]
Chr5:176631261 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5827G>A (p.Glu1943Lys) single nucleotide variant not provided [RCV001768967] Chr5:177280769 [GRCh38]
Chr5:176707770 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5890A>G (p.Lys1964Glu) single nucleotide variant not provided [RCV001767819] Chr5:177280832 [GRCh38]
Chr5:176707833 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3460G>A (p.Val1154Met) single nucleotide variant Inborn genetic diseases [RCV004953020]|not provided [RCV001764935] Chr5:177211859 [GRCh38]
Chr5:176638860 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5565A>T (p.Arg1855Ser) single nucleotide variant not provided [RCV001765179] Chr5:177273727 [GRCh38]
Chr5:176700728 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.8075_8076insTT (p.Glu2692fs) insertion not provided [RCV001765633] Chr5:177295443..177295444 [GRCh38]
Chr5:176722444..176722445 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7604A>G (p.Gln2535Arg) single nucleotide variant not provided [RCV001769077] Chr5:177294972 [GRCh38]
Chr5:176721973 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4724A>T (p.Glu1575Val) single nucleotide variant not provided [RCV001774555] Chr5:177251812 [GRCh38]
Chr5:176678813 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7487G>T (p.Gly2496Val) single nucleotide variant not provided [RCV001770999] Chr5:177294855 [GRCh38]
Chr5:176721856 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2503G>A (p.Gly835Ser) single nucleotide variant not provided [RCV001763555] Chr5:177210902 [GRCh38]
Chr5:176637903 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5150G>A (p.Gly1717Asp) single nucleotide variant not provided [RCV001766027] Chr5:177267565 [GRCh38]
Chr5:176694566 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3764G>A (p.Ser1255Asn) single nucleotide variant not provided [RCV001814836] Chr5:177212163 [GRCh38]
Chr5:176639164 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7227dup (p.Pro2410fs) duplication Sotos syndrome [RCV003232421] Chr5:177294592..177294593 [GRCh38]
Chr5:176721593..176721594 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6258+1G>T single nucleotide variant Sotos syndrome [RCV003232420] Chr5:177288926 [GRCh38]
Chr5:176715927 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7648G>A (p.Glu2550Lys) single nucleotide variant Sotos syndrome [RCV003232422]|not specified [RCV001822007] Chr5:177295016 [GRCh38]
Chr5:176722017 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser) single nucleotide variant Sotos syndrome [RCV003232424] Chr5:177294000 [GRCh38]
Chr5:176721001 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly) single nucleotide variant NSD1-related disorder [RCV003900754]|Sotos syndrome [RCV003232367]|not provided [RCV005094659] Chr5:177246710 [GRCh38]
Chr5:176673711 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.3760C>A (p.Pro1254Thr) single nucleotide variant not provided [RCV001816415] Chr5:177212159 [GRCh38]
Chr5:176639160 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.438C>G (p.Ile146Met) single nucleotide variant not provided [RCV001758654] Chr5:177135541 [GRCh38]
Chr5:176562542 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7510G>A (p.Val2504Ile) single nucleotide variant Sotos syndrome [RCV003232405]|not provided [RCV001761113] Chr5:177294878 [GRCh38]
Chr5:176721879 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4150C>T (p.Arg1384Trp) single nucleotide variant Sotos syndrome [RCV003232402]|not provided [RCV001757045] Chr5:177238465 [GRCh38]
Chr5:176665466 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4361C>G (p.Ser1454Ter) single nucleotide variant Sotos syndrome [RCV003232417] Chr5:177244253 [GRCh38]
Chr5:176671254 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6488del (p.Gln2163fs) deletion not provided [RCV001817740] Chr5:177293856 [GRCh38]
Chr5:176720857 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys) single nucleotide variant Sotos syndrome [RCV003232426]|not provided [RCV005095214] Chr5:177283892 [GRCh38]
Chr5:176710893 [GRCh37]
Chr5:5q35.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3766T>A (p.Leu1256Met) single nucleotide variant not provided [RCV001806543] Chr5:177212165 [GRCh38]
Chr5:176639166 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.911C>A (p.Ser304Ter) single nucleotide variant not provided [RCV001806971] Chr5:177136014 [GRCh38]
Chr5:176563015 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3368del (p.Ser1123fs) deletion not provided [RCV001815948] Chr5:177211767 [GRCh38]
Chr5:176638768 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5506_5509del (p.Lys1836fs) deletion not provided [RCV001806874] Chr5:177269804..177269807 [GRCh38]
Chr5:176696805..176696808 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter) single nucleotide variant not provided [RCV001818024] Chr5:177211207 [GRCh38]
Chr5:176638208 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs) deletion Sotos syndrome [RCV003232430]|not provided [RCV001818037] Chr5:177210166..177210167 [GRCh38]
Chr5:176637167..176637168 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5726_5727del (p.Asp1908_Ser1909insTer) microsatellite Sotos syndrome [RCV003232427] Chr5:177280666..177280667 [GRCh38]
Chr5:176707667..176707668 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6871_6873delinsTAT (p.Gln2291Tyr) indel Sotos syndrome [RCV003232428] Chr5:177294239..177294241 [GRCh38]
Chr5:176721240..176721242 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5561T>C (p.Leu1854Pro) single nucleotide variant not provided [RCV004798395] Chr5:177273723 [GRCh38]
Chr5:176700724 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4282G>A (p.Asp1428Asn) single nucleotide variant not specified [RCV001822558] Chr5:177239845 [GRCh38]
Chr5:176666846 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.816C>T (p.Asn272=) single nucleotide variant not provided [RCV004809198] Chr5:177135919 [GRCh38]
Chr5:176562920 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.340A>G (p.Thr114Ala) single nucleotide variant NSD1-related disorder [RCV003408003]|not provided [RCV005095469] Chr5:177135443 [GRCh38]
Chr5:176562444 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.3017del (p.Pro1006fs) deletion Sotos syndrome [RCV003232431] Chr5:177211414 [GRCh38]
Chr5:176638415 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6475T>C (p.Cys2159Arg) single nucleotide variant not provided [RCV005057848] Chr5:177293843 [GRCh38]
Chr5:176720844 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg) single nucleotide variant Sotos syndrome [RCV003232464]|not provided [RCV005095416] Chr5:177294213 [GRCh38]
Chr5:176721214 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.4081C>G (p.Leu1361Val) single nucleotide variant Inborn genetic diseases [RCV002553636]|not provided [RCV005095395] Chr5:177238396 [GRCh38]
Chr5:176665397 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.4546G>C (p.Glu1516Gln) single nucleotide variant Sotos syndrome [RCV003232503]|not provided [RCV005057864] Chr5:177248229 [GRCh38]
Chr5:176675230 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4883del (p.Met1628fs) deletion not provided [RCV005095481] Chr5:177257068 [GRCh38]
Chr5:176684069 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7603del (p.Gln2535fs) deletion not provided [RCV005095411] Chr5:177294969 [GRCh38]
Chr5:176721970 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7251A>T (p.Arg2417Ser) single nucleotide variant not provided [RCV001847422] Chr5:177294619 [GRCh38]
Chr5:176721620 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.7663G>A (p.Ala2555Thr) single nucleotide variant not provided [RCV005095376] Chr5:177295031 [GRCh38]
Chr5:176722032 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3985C>T (p.Gln1329Ter) single nucleotide variant not provided [RCV005057829] Chr5:177238300 [GRCh38]
Chr5:176665301 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3004_3007del (p.Lys1002fs) deletion Sotos syndrome [RCV003232525] Chr5:177211403..177211406 [GRCh38]
Chr5:176638404..176638407 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg) single nucleotide variant Sotos syndrome [RCV003232434]|not provided [RCV005095309] Chr5:177209978 [GRCh38]
Chr5:176636979 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6920A>C (p.Gln2307Pro) single nucleotide variant not provided [RCV005057913] Chr5:177294288 [GRCh38]
Chr5:176721289 [GRCh37]
Chr5:5q35.3		 uncertain significance
NC_000005.9:g.(?_176638041)_(176722460_?)del deletion Sotos syndrome [RCV003232498] Chr5:176638041..176722460 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1921A>G (p.Thr641Ala) single nucleotide variant Sotos syndrome [RCV003232435] Chr5:177210320 [GRCh38]
Chr5:176637321 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg) single nucleotide variant Sotos syndrome [RCV003232493] Chr5:177283902 [GRCh38]
Chr5:176710903 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2053_2057del (p.Lys685fs) deletion not provided [RCV005095472] Chr5:177210450..177210454 [GRCh38]
Chr5:176637451..176637455 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5858G>C (p.Gly1953Ala) single nucleotide variant not provided [RCV005057833] Chr5:177280800 [GRCh38]
Chr5:176707801 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1382C>T (p.Thr461Ile) single nucleotide variant Sotos syndrome [RCV003232432] Chr5:177209781 [GRCh38]
Chr5:176636782 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln) single nucleotide variant Sotos syndrome [RCV003232433] Chr5:177210762 [GRCh38]
Chr5:176637763 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.209T>G (p.Ile70Ser) single nucleotide variant Inborn genetic diseases [RCV004040543]|not provided [RCV005095372] Chr5:177135312 [GRCh38]
Chr5:176562313 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6128T>C (p.Phe2043Ser) single nucleotide variant not provided [RCV005057795] Chr5:177283905 [GRCh38]
Chr5:176710906 [GRCh37]
Chr5:5q35.3		 pathogenic|uncertain significance
NM_022455.5(NSD1):c.3031del (p.Ser1011fs) deletion not provided [RCV005095473] Chr5:177211427 [GRCh38]
Chr5:176638428 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2605dup (p.Tyr869fs) duplication not provided [RCV005095476] Chr5:177211002..177211003 [GRCh38]
Chr5:176638003..176638004 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1687A>C (p.Thr563Pro) single nucleotide variant not provided [RCV005057687] Chr5:177210086 [GRCh38]
Chr5:176637087 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4994C>T (p.Pro1665Leu) single nucleotide variant not provided [RCV005095414] Chr5:177260016 [GRCh38]
Chr5:176687017 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3701T>G (p.Leu1234Ter) single nucleotide variant not provided [RCV005095357] Chr5:177212100 [GRCh38]
Chr5:176639101 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1363A>G (p.Met455Val) single nucleotide variant Sotos syndrome [RCV003232520]|not provided [RCV005095528] Chr5:177209762 [GRCh38]
Chr5:176636763 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.2163_2181del (p.Gly722fs) deletion not provided [RCV005095359] Chr5:177210562..177210580 [GRCh38]
Chr5:176637563..176637581 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2912G>A (p.Gly971Asp) single nucleotide variant not provided [RCV005095333] Chr5:177211311 [GRCh38]
Chr5:176638312 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1163G>T (p.Gly388Val) single nucleotide variant not provided [RCV005057827] Chr5:177204219 [GRCh38]
Chr5:176631220 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4569del (p.Met1525fs) deletion not provided [RCV005095391] Chr5:177248250 [GRCh38]
Chr5:176675251 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1820A>G (p.Asn607Ser) single nucleotide variant not provided [RCV005095498] Chr5:177210219 [GRCh38]
Chr5:176637220 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4436C>T (p.Ala1479Val) single nucleotide variant not provided [RCV005057936] Chr5:177246735 [GRCh38]
Chr5:176673736 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3639A>G (p.Ile1213Met) single nucleotide variant NSD1-related disorder [RCV003893009]|not provided [RCV005095467] Chr5:177212038 [GRCh38]
Chr5:176639039 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.5420C>T (p.Thr1807Ile) single nucleotide variant Inborn genetic diseases [RCV003365653]|not provided [RCV005095523] Chr5:177269718 [GRCh38]
Chr5:176696719 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1048_1049del (p.His350fs) microsatellite Sotos syndrome 1 [RCV001994494] Chr5:177191999..177192000 [GRCh38]
Chr5:176619000..176619001 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3220C>T (p.Arg1074Cys) single nucleotide variant not provided [RCV005095466]|not specified [RCV003235633] Chr5:177211619 [GRCh38]
Chr5:176638620 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.5757G>T (p.Glu1919Asp) single nucleotide variant not provided [RCV005095345] Chr5:177280699 [GRCh38]
Chr5:176707700 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.890G>C (p.Gly297Ala) single nucleotide variant not provided [RCV005057902] Chr5:177135993 [GRCh38]
Chr5:176562994 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer) microsatellite NSD1-related disorder [RCV003408078]|not provided [RCV002463102] Chr5:177135748..177135749 [GRCh38]
Chr5:176562749..176562750 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6391dup (p.Val2131fs) duplication Sotos syndrome [RCV003232454] Chr5:177292085..177292086 [GRCh38]
Chr5:176719086..176719087 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3687del (p.Ala1230fs) deletion not provided [RCV005057832] Chr5:177212086 [GRCh38]
Chr5:176639087 [GRCh37]
Chr5:5q35.3		 pathogenic
NC_000005.9:g.(?_176047812)_(177422934_?)del deletion Ehlers-Danlos syndrome progeroid type [RCV001931790] Chr5:176047812..177422934 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance
NM_022455.5(NSD1):c.5892+6A>G single nucleotide variant not provided [RCV005095454] Chr5:177280840 [GRCh38]
Chr5:176707841 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.113A>G (p.Asn38Ser) single nucleotide variant not provided [RCV005095350] Chr5:177135216 [GRCh38]
Chr5:176562217 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.2564C>T (p.Ala855Val) single nucleotide variant not provided [RCV005095418] Chr5:177210963 [GRCh38]
Chr5:176637964 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1882G>A (p.Asp628Asn) single nucleotide variant Sotos syndrome [RCV003232481]|not provided [RCV004779221] Chr5:177210281 [GRCh38]
Chr5:176637282 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6455dup (p.Pro2153fs) duplication not provided [RCV005095477] Chr5:177292149..177292150 [GRCh38]
Chr5:176719150..176719151 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.641C>T (p.Thr214Ile) single nucleotide variant not provided [RCV005095435] Chr5:177135744 [GRCh38]
Chr5:176562745 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4732A>G (p.Arg1578Gly) single nucleotide variant not provided [RCV005057926] Chr5:177251820 [GRCh38]
Chr5:176678821 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.670T>C (p.Ser224Pro) single nucleotide variant Sotos syndrome [RCV003232505]|not provided [RCV005095500] Chr5:177135773 [GRCh38]
Chr5:176562774 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.340A>C (p.Thr114Pro) single nucleotide variant not provided [RCV005095440] Chr5:177135443 [GRCh38]
Chr5:176562444 [GRCh37]
Chr5:5q35.3		 uncertain significance
NC_000005.9:g.(?_176047812)_(177422934_?)dup duplication Ehlers-Danlos syndrome progeroid type [RCV001883344]|not provided [RCV001879660] Chr5:176047812..177422934 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance
NM_022455.5(NSD1):c.4487C>T (p.Pro1496Leu) single nucleotide variant Sotos syndrome [RCV003232479] Chr5:177246786 [GRCh38]
Chr5:176673787 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.19C>A (p.Leu7Ile) single nucleotide variant Sotos syndrome [RCV003232443]|not provided [RCV004809684] Chr5:177135122 [GRCh38]
Chr5:176562123 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NC_000005.9:g.(?_176631101)_(176631313_?)dup duplication Sotos syndrome [RCV003232523] Chr5:176631101..176631313 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter) single nucleotide variant Inborn genetic diseases [RCV002344062]|not provided [RCV005095436] Chr5:177260149 [GRCh38]
Chr5:176687150 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6037G>A (p.Gly2013Arg) single nucleotide variant Sotos syndrome [RCV003232515] Chr5:177283814 [GRCh38]
Chr5:176710815 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3959G>A (p.Arg1320Gln) single nucleotide variant Inborn genetic diseases [RCV003264265]|Sotos syndrome [RCV003232466]|not provided [RCV005095424] Chr5:177238274 [GRCh38]
Chr5:176665275 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1611del (p.Phe537fs) deletion Sotos syndrome 1 [RCV001878191] Chr5:177210008 [GRCh38]
Chr5:176637009 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5408A>G (p.Asp1803Gly) single nucleotide variant not provided [RCV005095371] Chr5:177269706 [GRCh38]
Chr5:176696707 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6009+3A>C single nucleotide variant not provided [RCV005095426] Chr5:177282584 [GRCh38]
Chr5:176709585 [GRCh37]
Chr5:5q35.3		 uncertain significance
NC_000005.9:g.(?_176618865)_(176619040_?)dup duplication Sotos syndrome [RCV003232522] Chr5:176618865..176619040 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5580_5587del (p.Asp1860fs) deletion not provided [RCV005057825] Chr5:177273738..177273745 [GRCh38]
Chr5:176700739..176700746 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.331A>G (p.Ile111Val) single nucleotide variant Inborn genetic diseases [RCV003303436]|not provided [RCV005095438] Chr5:177135434 [GRCh38]
Chr5:176562435 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6532T>C (p.Cys2178Arg) single nucleotide variant not provided [RCV005057906] Chr5:177293900 [GRCh38]
Chr5:176720901 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5321T>A (p.Ile1774Asn) single nucleotide variant not provided [RCV005095482] Chr5:177269619 [GRCh38]
Chr5:176696620 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.58G>T (p.Val20Leu) single nucleotide variant Inborn genetic diseases [RCV005382250]|Sotos syndrome [RCV003232457]|not provided [RCV005095401] Chr5:177135161 [GRCh38]
Chr5:176562162 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7696A>G (p.Thr2566Ala) single nucleotide variant not provided [RCV005095389] Chr5:177295064 [GRCh38]
Chr5:176722065 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1811G>A (p.Arg604Gln) single nucleotide variant Inborn genetic diseases [RCV002409489]|not provided [RCV005095610] Chr5:177210210 [GRCh38]
Chr5:176637211 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.5147-20A>C single nucleotide variant not provided [RCV005058062] Chr5:177267542 [GRCh38]
Chr5:176694543 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1842G>A (p.Val614=) single nucleotide variant not provided [RCV005095697] Chr5:177210241 [GRCh38]
Chr5:176637242 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4074G>A (p.Gln1358=) single nucleotide variant not provided [RCV005095614] Chr5:177238389 [GRCh38]
Chr5:176665390 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7398G>A (p.Lys2466=) single nucleotide variant not provided [RCV005058055] Chr5:177294766 [GRCh38]
Chr5:176721767 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.786C>T (p.Asp262=) single nucleotide variant not provided [RCV005058066] Chr5:177135889 [GRCh38]
Chr5:176562890 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2073C>T (p.Ala691=) single nucleotide variant not provided [RCV003434408] Chr5:177210472 [GRCh38]
Chr5:176637473 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.222A>G (p.Arg74=) single nucleotide variant not provided [RCV005095694] Chr5:177135325 [GRCh38]
Chr5:176562326 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3092G>A (p.Arg1031Gln) single nucleotide variant not provided [RCV005095559] Chr5:177211491 [GRCh38]
Chr5:176638492 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2376C>T (p.Cys792=) single nucleotide variant NSD1-related disorder [RCV004731232]|not provided [RCV005095612] Chr5:177210775 [GRCh38]
Chr5:176637776 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3426C>T (p.Asn1142=) single nucleotide variant not provided [RCV005058142] Chr5:177211825 [GRCh38]
Chr5:176638826 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7523G>A (p.Cys2508Tyr) single nucleotide variant not provided [RCV002224643] Chr5:177294891 [GRCh38]
Chr5:176721892 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2099A>G (p.Gln700Arg) single nucleotide variant not specified [RCV002248057] Chr5:177210498 [GRCh38]
Chr5:176637499 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5269A>C (p.Arg1757=) single nucleotide variant not provided [RCV005095729] Chr5:177267684 [GRCh38]
Chr5:176694685 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1230G>A (p.Arg410=) single nucleotide variant not provided [RCV005057967] Chr5:177204286 [GRCh38]
Chr5:176631287 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5010C>T (p.Ala1670=) single nucleotide variant not provided [RCV005057976] Chr5:177260032 [GRCh38]
Chr5:176687033 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1331del (p.Pro444fs) deletion not provided [RCV002224769] Chr5:177209729 [GRCh38]
Chr5:176636730 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.7182T>C (p.Ile2394=) single nucleotide variant Inborn genetic diseases [RCV002372837]|not provided [RCV005095554] Chr5:177294550 [GRCh38]
Chr5:176721551 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1034_1037dup (p.Leu346fs) duplication not provided [RCV002214368] Chr5:177191989..177191990 [GRCh38]
Chr5:176618990..176618991 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7596A>G (p.Ser2532=) single nucleotide variant not provided [RCV005095681] Chr5:177294964 [GRCh38]
Chr5:176721965 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4966+7A>G single nucleotide variant not provided [RCV005058053] Chr5:177257158 [GRCh38]
Chr5:176684159 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4551A>G (p.Glu1517=) single nucleotide variant not provided [RCV005095622] Chr5:177248234 [GRCh38]
Chr5:176675235 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg) single nucleotide variant Sotos syndrome [RCV003232526] Chr5:177257016 [GRCh38]
Chr5:176684017 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6432A>G (p.Ala2144=) single nucleotide variant not provided [RCV005095695] Chr5:177292127 [GRCh38]
Chr5:176719128 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5769A>C (p.Thr1923=) single nucleotide variant not provided [RCV005095573] Chr5:177280711 [GRCh38]
Chr5:176707712 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6259-20G>A single nucleotide variant not provided [RCV005095678] Chr5:177291934 [GRCh38]
Chr5:176718935 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4765+15G>A single nucleotide variant not provided [RCV005095690] Chr5:177251868 [GRCh38]
Chr5:176678869 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.927+5G>A single nucleotide variant not provided [RCV002221872] Chr5:177136035 [GRCh38]
Chr5:176563036 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4766-7T>C single nucleotide variant not provided [RCV005058082] Chr5:177256944 [GRCh38]
Chr5:176683945 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7809C>G (p.Leu2603=) single nucleotide variant Inborn genetic diseases [RCV002409494]|not provided [RCV005095623] Chr5:177295177 [GRCh38]
Chr5:176722178 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.567C>T (p.Thr189=) single nucleotide variant not provided [RCV005095632] Chr5:177135670 [GRCh38]
Chr5:176562671 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4722T>G (p.Thr1574=) single nucleotide variant not provided [RCV005095638] Chr5:177251810 [GRCh38]
Chr5:176678811 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6387G>A (p.Gln2129=) single nucleotide variant NSD1-related disorder [RCV003951169]|not provided [RCV005058070] Chr5:177292082 [GRCh38]
Chr5:176719083 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4691G>A (p.Gly1564Glu) single nucleotide variant not provided [RCV003110023] Chr5:177251779 [GRCh38]
Chr5:176678780 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6750G>T (p.Met2250Ile) single nucleotide variant not specified [RCV004782108] Chr5:177294118 [GRCh38]
Chr5:176721119 [GRCh37]
Chr5:5q35.3		 likely benign
NC_000005.9:g.(?_175158654)_(179263593_?)dup duplication Ehlers-Danlos syndrome, dermatosparaxis type [RCV003116717]|Sotos syndrome [RCV003232857]|not provided [RCV003154288] Chr5:175158654..179263593 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance|no classifications from unflagged records
NM_022455.5(NSD1):c.7756G>A (p.Gly2586Ser) single nucleotide variant not provided [RCV004776605] Chr5:177295124 [GRCh38]
Chr5:176722125 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2175_2176inv (p.Ser726Pro) inversion not provided [RCV005099245] Chr5:177210574..177210575 [GRCh38]
Chr5:176637575..176637576 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2401G>A (p.Ala801Thr) single nucleotide variant not provided [RCV005099246] Chr5:177210800 [GRCh38]
Chr5:176637801 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6836C>T (p.Pro2279Leu) single nucleotide variant not provided [RCV005099250] Chr5:177294204 [GRCh38]
Chr5:176721205 [GRCh37]
Chr5:5q35.3		 uncertain significance
NC_000005.9:g.(?_176720813)_(176722460_?)del deletion Sotos syndrome [RCV003232858] Chr5:176720813..176722460 [GRCh37]
Chr5:5q35.3		 pathogenic
NC_000005.9:g.(?_176618865)_(177036696_?)dup duplication Sotos syndrome [RCV003232859] Chr5:176618865..177036696 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1467G>C (p.Glu489Asp) single nucleotide variant not provided [RCV005099247] Chr5:177209866 [GRCh38]
Chr5:176636867 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2930A>G (p.Asn977Ser) single nucleotide variant not provided [RCV005099249] Chr5:177211329 [GRCh38]
Chr5:176638330 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7623G>T (p.Gln2541His) single nucleotide variant not provided [RCV004794831] Chr5:177294991 [GRCh38]
Chr5:176721992 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5456A>G (p.Asp1819Gly) single nucleotide variant Sotos syndrome [RCV004788471] Chr5:177269754 [GRCh38]
Chr5:176696755 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.490G>A (p.Val164Ile) single nucleotide variant Inborn genetic diseases [RCV003276167] Chr5:177135593 [GRCh38]
Chr5:176562594 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.398A>G (p.Asn133Ser) single nucleotide variant not provided [RCV003129191] Chr5:177135501 [GRCh38]
Chr5:176562502 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1236+2T>C single nucleotide variant Sotos syndrome [RCV004788383] Chr5:177204294 [GRCh38]
Chr5:176631295 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.343del (p.Ser115fs) deletion Sotos syndrome [RCV004788572] Chr5:177135445 [GRCh38]
Chr5:176562446 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7952CTG[1] (p.Ala2652del) microsatellite Abnormal cerebral morphology [RCV002275913] Chr5:177295320..177295322 [GRCh38]
Chr5:176722321..176722323 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7405del (p.Ala2469fs) deletion Sotos syndrome [RCV003232574] Chr5:177294771 [GRCh38]
Chr5:176721772 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1064-2A>G single nucleotide variant Sotos syndrome [RCV003232572]|not provided [RCV005095979] Chr5:177204118 [GRCh38]
Chr5:176631119 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.4378+15_4378+16del microsatellite not provided [RCV005095825]|not specified [RCV002250149] Chr5:177244283..177244284 [GRCh38]
Chr5:176671284..176671285 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.5623-2A>C single nucleotide variant See cases [RCV002252399] Chr5:177280563 [GRCh38]
Chr5:176707564 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.7638del (p.Leu2548fs) deletion See cases [RCV002252519] Chr5:177295005 [GRCh38]
Chr5:176722006 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5201T>C (p.Leu1734Pro) single nucleotide variant not provided [RCV003156571] Chr5:177267616 [GRCh38]
Chr5:176694617 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4192+1G>A single nucleotide variant not provided [RCV002255036] Chr5:177238508 [GRCh38]
Chr5:176665509 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3758T>C (p.Ile1253Thr) single nucleotide variant not provided [RCV003234264] Chr5:177212157 [GRCh38]
Chr5:176639158 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3671C>G (p.Ala1224Gly) single nucleotide variant not provided [RCV003234309] Chr5:177212070 [GRCh38]
Chr5:176639071 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3231_3237delinsTC (p.Leu1078fs) indel not provided [RCV002276448] Chr5:177211630..177211636 [GRCh38]
Chr5:176638631..176638637 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg) single nucleotide variant Sotos syndrome [RCV003232576] Chr5:177280700 [GRCh38]
Chr5:176707701 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.26G>T (p.Arg9Ile) single nucleotide variant Sotos syndrome [RCV003232581] Chr5:177135129 [GRCh38]
Chr5:176562130 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter) single nucleotide variant Sotos syndrome [RCV003232582] Chr5:177295356 [GRCh38]
Chr5:176722357 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3440A>G (p.Glu1147Gly) single nucleotide variant Sotos syndrome [RCV003232590] Chr5:177211839 [GRCh38]
Chr5:176638840 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5149G>A (p.Gly1717Ser) single nucleotide variant Sotos syndrome [RCV003232584] Chr5:177267564 [GRCh38]
Chr5:176694565 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.1769T>C (p.Leu590Ser) single nucleotide variant not provided [RCV002279084] Chr5:177210168 [GRCh38]
Chr5:176637169 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2552A>T (p.Asp851Val) single nucleotide variant Inborn genetic diseases [RCV002434960]|not provided [RCV005098196] Chr5:177210951 [GRCh38]
Chr5:176637952 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.1964G>A (p.Ser655Asn) single nucleotide variant NSD1-related disorder [RCV003395447]|not provided [RCV002292026] Chr5:177210363 [GRCh38]
Chr5:176637364 [GRCh37]
Chr5:5q35.3		 uncertain significance
Single allele duplication 5q35 microduplication syndrome [RCV002286375] Chr5:176449583..177376826 [GRCh38]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.3438T>G (p.Asp1146Glu) single nucleotide variant Sotos syndrome [RCV003232569] Chr5:177211837 [GRCh38]
Chr5:176638838 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4365del (p.Asp1456fs) deletion Sotos syndrome [RCV003232589] Chr5:177244254 [GRCh38]
Chr5:176671255 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1562A>G (p.His521Arg) single nucleotide variant not provided [RCV002285913] Chr5:177209961 [GRCh38]
Chr5:176636962 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.4:c.928-10312_3797-10414del deletion Sotos syndrome [RCV003232567]   likely pathogenic
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val) single nucleotide variant Sotos syndrome [RCV003232583] Chr5:177280800 [GRCh38]
Chr5:176707801 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.1207A>T (p.Lys403Ter) single nucleotide variant Sotos syndrome [RCV003232586] Chr5:177204263 [GRCh38]
Chr5:176631264 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3422T>G (p.Met1141Arg) single nucleotide variant not provided [RCV002291907] Chr5:177211821 [GRCh38]
Chr5:176638822 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.383A>G (p.Gln128Arg) single nucleotide variant Sotos syndrome [RCV005042767]|not provided [RCV002267524] Chr5:177135486 [GRCh38]
Chr5:176562487 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1372G>C (p.Glu458Gln) single nucleotide variant not provided [RCV002265391] Chr5:177209771 [GRCh38]
Chr5:176636772 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg) single nucleotide variant Sotos syndrome [RCV003232568]|not provided [RCV005058202]|not specified [RCV003324011] Chr5:177211710 [GRCh38]
Chr5:176638711 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3 copy number gain See cases [RCV002292398] Chr5:170350336..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_022455.5(NSD1):c.1014del (p.Cys339fs) deletion Sotos syndrome [RCV003232593] Chr5:177191968 [GRCh38]
Chr5:176618969 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4205G>A (p.Ser1402Asn) single nucleotide variant Sotos syndrome [RCV003232587] Chr5:177239768 [GRCh38]
Chr5:176666769 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1744T>G (p.Phe582Val) single nucleotide variant Inborn genetic diseases [RCV004047605]|Sotos syndrome [RCV003232588] Chr5:177210143 [GRCh38]
Chr5:176637144 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5307G>A (p.Trp1769Ter) single nucleotide variant See cases [RCV002287725] Chr5:177269605 [GRCh38]
Chr5:176696606 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.887C>A (p.Pro296His) single nucleotide variant not provided [RCV002280426] Chr5:177135990 [GRCh38]
Chr5:176562991 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4302+3A>T single nucleotide variant Sotos syndrome [RCV003232591] Chr5:177239868 [GRCh38]
Chr5:176666869 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4642-2A>G single nucleotide variant Sotos syndrome [RCV003232592] Chr5:177251728 [GRCh38]
Chr5:176678729 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3001G>A (p.Asp1001Asn) single nucleotide variant Inborn genetic diseases [RCV002435677]|not provided [RCV005098382] Chr5:177211400 [GRCh38]
Chr5:176638401 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.3275A>G (p.Gln1092Arg) single nucleotide variant not provided [RCV005096104] Chr5:177211674 [GRCh38]
Chr5:176638675 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4776del (p.Cys1593fs) deletion Sotos syndrome [RCV003232620] Chr5:177256960 [GRCh38]
Chr5:176683961 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4947C>T (p.Ala1649=) single nucleotide variant Inborn genetic diseases [RCV002351321]|not provided [RCV005096702] Chr5:177257132 [GRCh38]
Chr5:176684133 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3446A>C (p.Asn1149Thr) single nucleotide variant Inborn genetic diseases [RCV002454619]|not provided [RCV002293134] Chr5:177211845 [GRCh38]
Chr5:176638846 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6722C>T (p.Thr2241Ile) single nucleotide variant Inborn genetic diseases [RCV002367246]|not provided [RCV005096990] Chr5:177294090 [GRCh38]
Chr5:176721091 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5751C>G (p.Leu1917=) single nucleotide variant Inborn genetic diseases [RCV002349932]|not provided [RCV005096838] Chr5:177280693 [GRCh38]
Chr5:176707694 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5629C>T (p.Arg1877Cys) single nucleotide variant Inborn genetic diseases [RCV004961230]|See cases [RCV003156180]|Sotos syndrome [RCV005254744] Chr5:177280571 [GRCh38]
Chr5:176707572 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.6474_6476del (p.Glu2158_Cys2159delinsAsp) deletion Inborn genetic diseases [RCV003280074] Chr5:177293842..177293844 [GRCh38]
Chr5:176720843..176720845 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2045A>C (p.Glu682Ala) single nucleotide variant Inborn genetic diseases [RCV003299395] Chr5:177210444 [GRCh38]
Chr5:176637445 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5376A>G (p.Gly1792=) single nucleotide variant Inborn genetic diseases [RCV002347081] Chr5:177269674 [GRCh38]
Chr5:176696675 [GRCh37]
Chr5:5q35.3		 likely benign
GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3 copy number gain not provided [RCV002474595] Chr5:176516440..177773252 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
NM_022455.5(NSD1):c.7905G>A (p.Gly2635=) single nucleotide variant Inborn genetic diseases [RCV002416662] Chr5:177295273 [GRCh38]
Chr5:176722274 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3870G>T (p.Gln1290His) single nucleotide variant not provided [RCV002464771] Chr5:177235894 [GRCh38]
Chr5:176662895 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176547912-177126647)x3 copy number gain not provided [RCV002472528] Chr5:176547912..177126647 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
NM_022455.5(NSD1):c.4946C>G (p.Ala1649Gly) single nucleotide variant Sotos syndrome [RCV003232631] Chr5:177257131 [GRCh38]
Chr5:176684132 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1837C>G (p.Leu613Val) single nucleotide variant not provided [RCV002467128] Chr5:177210236 [GRCh38]
Chr5:176637237 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:176616151-177107778)x3 copy number gain not provided [RCV002472763] Chr5:176616151..177107778 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4972_4974del (p.Leu1658del) deletion Sotos syndrome [RCV003232632] Chr5:177259993..177259995 [GRCh38]
Chr5:176686994..176686996 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3541_3544del (p.Glu1181fs) microsatellite not provided [RCV002505934] Chr5:177211935..177211938 [GRCh38]
Chr5:176638936..176638939 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5304-5C>T single nucleotide variant Inborn genetic diseases [RCV002344606] Chr5:177269597 [GRCh38]
Chr5:176696598 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.*4CAAT[1] microsatellite not specified [RCV004701094] Chr5:177295463..177295466 [GRCh38]
Chr5:176722464..176722467 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6471G>A (p.Trp2157Ter) single nucleotide variant not provided [RCV002474043] Chr5:177293839 [GRCh38]
Chr5:176720840 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1078C>T (p.Pro360Ser) single nucleotide variant Inborn genetic diseases [RCV003287721] Chr5:177204134 [GRCh38]
Chr5:176631135 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2889_2890del (p.His963fs) microsatellite Sotos syndrome [RCV003232621] Chr5:177211282..177211283 [GRCh38]
Chr5:176638283..176638284 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.1325G>C (p.Cys442Ser) single nucleotide variant not provided [RCV005096108] Chr5:177209724 [GRCh38]
Chr5:176636725 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7643T>C (p.Leu2548Ser) single nucleotide variant Inborn genetic diseases [RCV002396369] Chr5:177295011 [GRCh38]
Chr5:176722012 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3247G>A (p.Glu1083Lys) single nucleotide variant Inborn genetic diseases [RCV002324840] Chr5:177211646 [GRCh38]
Chr5:176638647 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7595C>T (p.Ser2532Leu) single nucleotide variant not provided [RCV005096106] Chr5:177294963 [GRCh38]
Chr5:176721964 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5992A>G (p.Met1998Val) single nucleotide variant Inborn genetic diseases [RCV002357899] Chr5:177282564 [GRCh38]
Chr5:176709565 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4211G>A (p.Arg1404His) single nucleotide variant Inborn genetic diseases [RCV002327969] Chr5:177239774 [GRCh38]
Chr5:176666775 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1778T>C (p.Leu593Ser) single nucleotide variant Inborn genetic diseases [RCV002404023]|not provided [RCV005097752] Chr5:177210177 [GRCh38]
Chr5:176637178 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5979C>A (p.Ile1993=) single nucleotide variant Inborn genetic diseases [RCV002356110]|not provided [RCV005096877] Chr5:177282551 [GRCh38]
Chr5:176709552 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3089_3090delinsCT (p.Leu1030Ser) indel Inborn genetic diseases [RCV002325756]|NSD1-related disorder [RCV003896118]|not provided [RCV005096142] Chr5:177211488..177211489 [GRCh38]
Chr5:176638489..176638490 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.6971G>C (p.Gly2324Ala) single nucleotide variant not provided [RCV005096107] Chr5:177294339 [GRCh38]
Chr5:176721340 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6184T>C (p.Cys2062Arg) single nucleotide variant Inborn genetic diseases [RCV002353786] Chr5:177288851 [GRCh38]
Chr5:176715852 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1676C>T (p.Thr559Ile) single nucleotide variant not provided [RCV002300969] Chr5:177210075 [GRCh38]
Chr5:176637076 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.381A>T (p.Lys127Asn) single nucleotide variant Inborn genetic diseases [RCV002355297] Chr5:177135484 [GRCh38]
Chr5:176562485 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1801A>C (p.Lys601Gln) single nucleotide variant Inborn genetic diseases [RCV002407921] Chr5:177210200 [GRCh38]
Chr5:176637201 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3242G>C (p.Gly1081Ala) single nucleotide variant Inborn genetic diseases [RCV002324804]|NSD1-related disorder [RCV003408229] Chr5:177211641 [GRCh38]
Chr5:176638642 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4591A>G (p.Met1531Val) single nucleotide variant not provided [RCV005096114] Chr5:177248274 [GRCh38]
Chr5:176675275 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6397T>C (p.Cys2133Arg) single nucleotide variant not provided [RCV005096115] Chr5:177292092 [GRCh38]
Chr5:176719093 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.661G>T (p.Ala221Ser) single nucleotide variant not provided [RCV005096117] Chr5:177135764 [GRCh38]
Chr5:176562765 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3079T>G (p.Ser1027Ala) single nucleotide variant Inborn genetic diseases [RCV002319856] Chr5:177211478 [GRCh38]
Chr5:176638479 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2560A>G (p.Thr854Ala) single nucleotide variant Inborn genetic diseases [RCV002455859]|not provided [RCV005098202] Chr5:177210959 [GRCh38]
Chr5:176637960 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.4029A>G (p.Pro1343=) single nucleotide variant Inborn genetic diseases [RCV002375744] Chr5:177238344 [GRCh38]
Chr5:176665345 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3056G>C (p.Arg1019Pro) single nucleotide variant Inborn genetic diseases [RCV002444151] Chr5:177211455 [GRCh38]
Chr5:176638456 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2909A>G (p.Asp970Gly) single nucleotide variant Inborn genetic diseases [RCV002439792] Chr5:177211308 [GRCh38]
Chr5:176638309 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7684G>C (p.Gly2562Arg) single nucleotide variant Inborn genetic diseases [RCV002400500] Chr5:177295052 [GRCh38]
Chr5:176722053 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6625G>C (p.Gly2209Arg) single nucleotide variant not specified [RCV002302567] Chr5:177293993 [GRCh38]
Chr5:176720994 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7525G>T (p.Val2509Leu) single nucleotide variant not provided [RCV002300743] Chr5:177294893 [GRCh38]
Chr5:176721894 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7831C>G (p.Pro2611Ala) single nucleotide variant Inborn genetic diseases [RCV002412123] Chr5:177295199 [GRCh38]
Chr5:176722200 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6606T>C (p.Cys2202=) single nucleotide variant Inborn genetic diseases [RCV002375848]|not provided [RCV005096966] Chr5:177293974 [GRCh38]
Chr5:176720975 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2473G>T (p.Ala825Ser) single nucleotide variant Inborn genetic diseases [RCV002450628] Chr5:177210872 [GRCh38]
Chr5:176637873 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6066C>T (p.Cys2022=) single nucleotide variant Inborn genetic diseases [RCV002358336] Chr5:177283843 [GRCh38]
Chr5:176710844 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4552G>A (p.Gly1518Ser) single nucleotide variant not provided [RCV005096110] Chr5:177248235 [GRCh38]
Chr5:176675236 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3442C>G (p.Leu1148Val) single nucleotide variant Inborn genetic diseases [RCV002457133]|Sotos syndrome [RCV005032240] Chr5:177211841 [GRCh38]
Chr5:176638842 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.417G>A (p.Gln139=) single nucleotide variant Inborn genetic diseases [RCV002333460]|not provided [RCV005096505] Chr5:177135520 [GRCh38]
Chr5:176562521 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.4257C>A (p.Asp1419Glu) single nucleotide variant Inborn genetic diseases [RCV002329906]|not provided [RCV005096522] Chr5:177239820 [GRCh38]
Chr5:176666821 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2670C>G (p.Phe890Leu) single nucleotide variant not provided [RCV002306155] Chr5:177211069 [GRCh38]
Chr5:176638070 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3099T>C (p.Ala1033=) single nucleotide variant Inborn genetic diseases [RCV002325884] Chr5:177211498 [GRCh38]
Chr5:176638499 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2800G>T (p.Val934Phe) single nucleotide variant Inborn genetic diseases [RCV002441596]|not provided [RCV005098293] Chr5:177211199 [GRCh38]
Chr5:176638200 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2407C>T (p.Pro803Ser) single nucleotide variant Inborn genetic diseases [RCV002450294] Chr5:177210806 [GRCh38]
Chr5:176637807 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5612A>G (p.Lys1871Arg) single nucleotide variant not provided [RCV005096102] Chr5:177273774 [GRCh38]
Chr5:176700775 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7390C>T (p.Arg2464Cys) single nucleotide variant Inborn genetic diseases [RCV002380461]|not provided [RCV005097108] Chr5:177294758 [GRCh38]
Chr5:176721759 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.4651A>T (p.Lys1551Ter) single nucleotide variant Inborn genetic diseases [RCV002330456] Chr5:177251739 [GRCh38]
Chr5:176678740 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6146A>C (p.Lys2049Thr) single nucleotide variant Inborn genetic diseases [RCV002360405]|Sotos syndrome [RCV005032249] Chr5:177283923 [GRCh38]
Chr5:176710924 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5257A>T (p.Lys1753Ter) single nucleotide variant Inborn genetic diseases [RCV002340970] Chr5:177267672 [GRCh38]
Chr5:176694673 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6479C>T (p.Pro2160Leu) single nucleotide variant Inborn genetic diseases [RCV002356192]|not provided [RCV002469470] Chr5:177293847 [GRCh38]
Chr5:176720848 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6654C>G (p.Ile2218Met) single nucleotide variant Sotos syndrome [RCV003232607]|not provided [RCV005096119] Chr5:177294022 [GRCh38]
Chr5:176721023 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2575_2576del (p.His859fs) deletion Inborn genetic diseases [RCV002426032] Chr5:177210973..177210974 [GRCh38]
Chr5:176637974..176637975 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7046C>G (p.Pro2349Arg) single nucleotide variant Inborn genetic diseases [RCV002378292]|not provided [RCV003149026] Chr5:177294414 [GRCh38]
Chr5:176721415 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3563G>A (p.Arg1188Lys) single nucleotide variant Inborn genetic diseases [RCV002339797] Chr5:177211962 [GRCh38]
Chr5:176638963 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4049C>T (p.Pro1350Leu) single nucleotide variant Inborn genetic diseases [RCV002321255] Chr5:177238364 [GRCh38]
Chr5:176665365 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7700C>G (p.Pro2567Arg) single nucleotide variant not provided [RCV005098629] Chr5:177295068 [GRCh38]
Chr5:176722069 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2431_2432insCACTC (p.Ser811fs) insertion Sotos syndrome [RCV003232634] Chr5:177210830..177210831 [GRCh38]
Chr5:176637831..176637832 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6087A>T (p.Thr2029=) single nucleotide variant not provided [RCV005098574] Chr5:177283864 [GRCh38]
Chr5:176710865 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6760CCT[1] (p.Pro2255del) microsatellite Sotos syndrome [RCV003232698]|not provided [RCV005098580] Chr5:177294128..177294130 [GRCh38]
Chr5:176721129..176721131 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6905C>T (p.Ser2302Leu) single nucleotide variant not provided [RCV005098762] Chr5:177294273 [GRCh38]
Chr5:176721274 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1410G>A (p.Leu470=) single nucleotide variant not provided [RCV005098845] Chr5:177209809 [GRCh38]
Chr5:176636810 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5937A>T (p.Glu1979Asp) single nucleotide variant Inborn genetic diseases [RCV002858837] Chr5:177282509 [GRCh38]
Chr5:176709510 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2520_2524del (p.Asn841fs) deletion not provided [RCV005098577] Chr5:177210918..177210922 [GRCh38]
Chr5:176637919..176637923 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3226G>A (p.Gly1076Ser) single nucleotide variant not provided [RCV005098823] Chr5:177211625 [GRCh38]
Chr5:176638626 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1395G>A (p.Glu465=) single nucleotide variant not provided [RCV005098563] Chr5:177209794 [GRCh38]
Chr5:176636795 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.242T>C (p.Met81Thr) single nucleotide variant Inborn genetic diseases [RCV002840576] Chr5:177135345 [GRCh38]
Chr5:176562346 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6355G>A (p.Asp2119Asn) single nucleotide variant not provided [RCV005098674] Chr5:177292050 [GRCh38]
Chr5:176719051 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2805T>C (p.Ser935=) single nucleotide variant not provided [RCV005098619] Chr5:177211204 [GRCh38]
Chr5:176638205 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4995T>C (p.Pro1665=) single nucleotide variant not provided [RCV005058929] Chr5:177260017 [GRCh38]
Chr5:176687018 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3002A>G (p.Asp1001Gly) single nucleotide variant not provided [RCV005098540] Chr5:177211401 [GRCh38]
Chr5:176638402 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1790C>G (p.Ala597Gly) single nucleotide variant Inborn genetic diseases [RCV002883165] Chr5:177210189 [GRCh38]
Chr5:176637190 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.97G>A (p.Gly33Ser) single nucleotide variant not provided [RCV005098503] Chr5:177135200 [GRCh38]
Chr5:176562201 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6412T>A (p.Cys2138Ser) single nucleotide variant not provided [RCV005098546] Chr5:177292107 [GRCh38]
Chr5:176719108 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7041C>G (p.Ser2347=) single nucleotide variant not provided [RCV005098568] Chr5:177294409 [GRCh38]
Chr5:176721410 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1299del (p.Lys435fs) deletion not provided [RCV005098706] Chr5:177209697 [GRCh38]
Chr5:176636698 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1634C>T (p.Thr545Met) single nucleotide variant Sotos syndrome [RCV003232750]|not provided [RCV005098702] Chr5:177210033 [GRCh38]
Chr5:176637034 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.7264G>C (p.Glu2422Gln) single nucleotide variant Sotos syndrome [RCV003232755]|not provided [RCV005098714] Chr5:177294632 [GRCh38]
Chr5:176721633 [GRCh37]
Chr5:5q35.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4760G>A (p.Arg1587His) single nucleotide variant Inborn genetic diseases [RCV002774667]|not provided [RCV005099218] Chr5:177251848 [GRCh38]
Chr5:176678849 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3029A>G (p.Lys1010Arg) single nucleotide variant not provided [RCV005098501] Chr5:177211428 [GRCh38]
Chr5:176638429 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3949C>G (p.Leu1317Val) single nucleotide variant not provided [RCV005098609] Chr5:177238264 [GRCh38]
Chr5:176665265 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3994G>C (p.Glu1332Gln) single nucleotide variant not provided [RCV005098610] Chr5:177238309 [GRCh38]
Chr5:176665310 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2815_2817dup (p.Pro939_Gly940insPro) duplication Inborn genetic diseases [RCV002882412] Chr5:177211212..177211213 [GRCh38]
Chr5:176638213..176638214 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6316A>T (p.Lys2106Ter) single nucleotide variant Sotos syndrome [RCV004819934] Chr5:177292011 [GRCh38]
Chr5:176719012 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6787T>A (p.Ser2263Thr) single nucleotide variant not provided [RCV005098682] Chr5:177294155 [GRCh38]
Chr5:176721156 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4818C>T (p.Cys1606=) single nucleotide variant not provided [RCV005098507] Chr5:177257003 [GRCh38]
Chr5:176684004 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.8045del (p.Asn2682fs) deletion not provided [RCV005098571] Chr5:177295412 [GRCh38]
Chr5:176722413 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6151+18A>T single nucleotide variant not provided [RCV005098621] Chr5:177283946 [GRCh38]
Chr5:176710947 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4765+19G>A single nucleotide variant not provided [RCV005098646] Chr5:177251872 [GRCh38]
Chr5:176678873 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1685A>G (p.Asn562Ser) single nucleotide variant Inborn genetic diseases [RCV002707822] Chr5:177210084 [GRCh38]
Chr5:176637085 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2362C>G (p.Arg788Gly) single nucleotide variant not provided [RCV005098688] Chr5:177210761 [GRCh38]
Chr5:176637762 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.353C>T (p.Pro118Leu) single nucleotide variant not provided [RCV005098548] Chr5:177135456 [GRCh38]
Chr5:176562457 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2186A>G (p.Asn729Ser) single nucleotide variant Inborn genetic diseases [RCV002708317] Chr5:177210585 [GRCh38]
Chr5:176637586 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1895G>A (p.Arg632Gln) single nucleotide variant not provided [RCV005098700] Chr5:177210294 [GRCh38]
Chr5:176637295 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.7218T>C (p.Pro2406=) single nucleotide variant not provided [RCV005098704] Chr5:177294586 [GRCh38]
Chr5:176721587 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3664A>G (p.Asn1222Asp) single nucleotide variant not provided [RCV003313305] Chr5:177212063 [GRCh38]
Chr5:176639064 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1839G>A (p.Leu613=) single nucleotide variant not provided [RCV005098697] Chr5:177210238 [GRCh38]
Chr5:176637239 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1925C>T (p.Ser642Phe) single nucleotide variant not provided [RCV005098498] Chr5:177210324 [GRCh38]
Chr5:176637325 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2194G>A (p.Asp732Asn) single nucleotide variant Sotos syndrome [RCV003232732]|not provided [RCV005098664] Chr5:177210593 [GRCh38]
Chr5:176637594 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.3335G>A (p.Ser1112Asn) single nucleotide variant not provided [RCV005098678] Chr5:177211734 [GRCh38]
Chr5:176638735 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3063_3064del (p.Cys1021fs) microsatellite not provided [RCV005098599] Chr5:177211460..177211461 [GRCh38]
Chr5:176638461..176638462 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2976T>A (p.Ser992=) single nucleotide variant not provided [RCV005058980] Chr5:177211375 [GRCh38]
Chr5:176638376 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3344A>G (p.Lys1115Arg) single nucleotide variant not provided [RCV005098810] Chr5:177211743 [GRCh38]
Chr5:176638744 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3409C>T (p.Leu1137=) single nucleotide variant not provided [RCV005098640] Chr5:177211808 [GRCh38]
Chr5:176638809 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3837G>T (p.Lys1279Asn) single nucleotide variant not provided [RCV005098793] Chr5:177235861 [GRCh38]
Chr5:176662862 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2853A>C (p.Gly951=) single nucleotide variant not provided [RCV005098904] Chr5:177211252 [GRCh38]
Chr5:176638253 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6464-13T>C single nucleotide variant not provided [RCV005098905] Chr5:177293819 [GRCh38]
Chr5:176720820 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1454A>G (p.His485Arg) single nucleotide variant Inborn genetic diseases [RCV002869668]|not provided [RCV005099791] Chr5:177209853 [GRCh38]
Chr5:176636854 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.951G>A (p.Thr317=) single nucleotide variant not provided [RCV005098952] Chr5:177191907 [GRCh38]
Chr5:176618908 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2524A>G (p.Met842Val) single nucleotide variant Inborn genetic diseases [RCV002887970]|not provided [RCV005059351] Chr5:177210923 [GRCh38]
Chr5:176637924 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7163C>T (p.Pro2388Leu) single nucleotide variant Inborn genetic diseases [RCV004960863]|Sotos syndrome [RCV003232743]|not provided [RCV005098689] Chr5:177294531 [GRCh38]
Chr5:176721532 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.3794C>G (p.Pro1265Arg) single nucleotide variant Inborn genetic diseases [RCV002757809] Chr5:177212193 [GRCh38]
Chr5:176639194 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6636T>C (p.Pro2212=) single nucleotide variant NSD1-related disorder [RCV004750792]|not provided [RCV005098656] Chr5:177294004 [GRCh38]
Chr5:176721005 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.3169A>T (p.Asn1057Tyr) single nucleotide variant Sotos syndrome [RCV003232809]|not provided [RCV005098887] Chr5:177211568 [GRCh38]
Chr5:176638569 [GRCh37]
Chr5:5q35.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.487G>A (p.Asp163Asn) single nucleotide variant not provided [RCV005098929] Chr5:177135590 [GRCh38]
Chr5:176562591 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4967-12T>A single nucleotide variant not provided [RCV005058927] Chr5:177259977 [GRCh38]
Chr5:176686978 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4301A>G (p.Lys1434Arg) single nucleotide variant not provided [RCV005098509] Chr5:177239864 [GRCh38]
Chr5:176666865 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4303-8A>G single nucleotide variant not provided [RCV005098620] Chr5:177244187 [GRCh38]
Chr5:176671188 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7329C>T (p.Asp2443=) single nucleotide variant not provided [RCV005098846] Chr5:177294697 [GRCh38]
Chr5:176721698 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7321C>G (p.Pro2441Ala) single nucleotide variant not provided [RCV005097008] Chr5:177294689 [GRCh38]
Chr5:176721690 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4193-17A>G single nucleotide variant not provided [RCV005098582] Chr5:177239739 [GRCh38]
Chr5:176666740 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3509C>T (p.Pro1170Leu) single nucleotide variant Inborn genetic diseases [RCV002870097] Chr5:177211908 [GRCh38]
Chr5:176638909 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3151G>A (p.Glu1051Lys) single nucleotide variant NSD1-related disorder [RCV003434582]|not provided [RCV005098916] Chr5:177211550 [GRCh38]
Chr5:176638551 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.3348A>G (p.Gln1116=) single nucleotide variant not provided [RCV005098926] Chr5:177211747 [GRCh38]
Chr5:176638748 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5180C>A (p.Ala1727Asp) single nucleotide variant not provided [RCV005098771] Chr5:177267595 [GRCh38]
Chr5:176694596 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.872A>G (p.Asn291Ser) single nucleotide variant not provided [RCV003037089] Chr5:177135975 [GRCh38]
Chr5:176562976 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2669T>A (p.Phe890Tyr) single nucleotide variant not provided [RCV005098696] Chr5:177211068 [GRCh38]
Chr5:176638069 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3813G>T (p.Lys1271Asn) single nucleotide variant not provided [RCV005059036] Chr5:177235837 [GRCh38]
Chr5:176662838 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.717G>A (p.Lys239=) single nucleotide variant not provided [RCV005098964] Chr5:177135820 [GRCh38]
Chr5:176562821 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3966A>C (p.Arg1322=) single nucleotide variant not provided [RCV005098756] Chr5:177238281 [GRCh38]
Chr5:176665282 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg) single nucleotide variant not provided [RCV003222456] Chr5:177293982 [GRCh38]
Chr5:176720983 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.4458G>A (p.Val1486=) single nucleotide variant not provided [RCV005098605] Chr5:177246757 [GRCh38]
Chr5:176673758 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.569A>T (p.Asn190Ile) single nucleotide variant not provided [RCV005098625] Chr5:177135672 [GRCh38]
Chr5:176562673 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1981del (p.Ser661fs) deletion not provided [RCV005098781] Chr5:177210380 [GRCh38]
Chr5:176637381 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4604G>A (p.Arg1535His) single nucleotide variant not provided [RCV005098648] Chr5:177248287 [GRCh38]
Chr5:176675288 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7356T>C (p.Ala2452=) single nucleotide variant not provided [RCV005098668] Chr5:177294724 [GRCh38]
Chr5:176721725 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.934C>T (p.Pro312Ser) single nucleotide variant Inborn genetic diseases [RCV002786542]|not provided [RCV005059037] Chr5:177191890 [GRCh38]
Chr5:176618891 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5502T>C (p.Tyr1834=) single nucleotide variant not provided [RCV005098703] Chr5:177269800 [GRCh38]
Chr5:176696801 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5115_5116insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGAGCATGTT (p.Asn1706delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer) insertion not provided [RCV005098588] Chr5:177260125..177260126 [GRCh38]
Chr5:176687126..176687127 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln) single nucleotide variant Sotos syndrome [RCV003232672] Chr5:177288846 [GRCh38]
Chr5:176715847 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3598C>T (p.Arg1200Trp) single nucleotide variant Inborn genetic diseases [RCV002923409]|not provided [RCV005098641] Chr5:177211997 [GRCh38]
Chr5:176638998 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.3763A>C (p.Ser1255Arg) single nucleotide variant Inborn genetic diseases [RCV002693594] Chr5:177212162 [GRCh38]
Chr5:176639163 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7889C>A (p.Ala2630Asp) single nucleotide variant Inborn genetic diseases [RCV002975844]|not provided [RCV005098685] Chr5:177295257 [GRCh38]
Chr5:176722258 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2425dup (p.Glu809fs) duplication not provided [RCV005098557] Chr5:177210822..177210823 [GRCh38]
Chr5:176637823..176637824 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2387A>C (p.Glu796Ala) single nucleotide variant not provided [RCV005098526] Chr5:177210786 [GRCh38]
Chr5:176637787 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4961C>G (p.Ser1654Cys) single nucleotide variant Sotos syndrome [RCV003232713]|not provided [RCV005098622] Chr5:177257146 [GRCh38]
Chr5:176684147 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3511C>T (p.Arg1171Cys) single nucleotide variant Sotos syndrome [RCV005399006]|not provided [RCV005098618] Chr5:177211910 [GRCh38]
Chr5:176638911 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.5738A>T (p.Asn1913Ile) single nucleotide variant not provided [RCV005098777] Chr5:177280680 [GRCh38]
Chr5:176707681 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4308T>C (p.Tyr1436=) single nucleotide variant not provided [RCV005098565] Chr5:177244200 [GRCh38]
Chr5:176671201 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5975A>G (p.Asp1992Gly) single nucleotide variant not provided [RCV005098733] Chr5:177282547 [GRCh38]
Chr5:176709548 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.952C>T (p.Pro318Ser) single nucleotide variant Inborn genetic diseases [RCV003161741]|not provided [RCV005098851] Chr5:177191908 [GRCh38]
Chr5:176618909 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.7122A>T (p.Ser2374=) single nucleotide variant not provided [RCV005098601] Chr5:177294490 [GRCh38]
Chr5:176721491 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.252A>G (p.Val84=) single nucleotide variant not provided [RCV005098753] Chr5:177135355 [GRCh38]
Chr5:176562356 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.482A>T (p.Asp161Val) single nucleotide variant Inborn genetic diseases [RCV002803711] Chr5:177135585 [GRCh38]
Chr5:176562586 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4959A>G (p.Ala1653=) single nucleotide variant not provided [RCV005097006] Chr5:177257144 [GRCh38]
Chr5:176684145 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5622+1G>A single nucleotide variant Inborn genetic diseases [RCV002875162] Chr5:177273785 [GRCh38]
Chr5:176700786 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6605G>T (p.Cys2202Phe) single nucleotide variant not provided [RCV005098693] Chr5:177293973 [GRCh38]
Chr5:176720974 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4764A>G (p.Thr1588=) single nucleotide variant not provided [RCV005098873] Chr5:177251852 [GRCh38]
Chr5:176678853 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2025G>A (p.Met675Ile) single nucleotide variant not provided [RCV005098718] Chr5:177210424 [GRCh38]
Chr5:176637425 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5682T>C (p.Arg1894=) single nucleotide variant not provided [RCV005098798] Chr5:177280624 [GRCh38]
Chr5:176707625 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4303-3T>G single nucleotide variant not provided [RCV005098712] Chr5:177244192 [GRCh38]
Chr5:176671193 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3485G>A (p.Arg1162His) single nucleotide variant Inborn genetic diseases [RCV002743562] Chr5:177211884 [GRCh38]
Chr5:176638885 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.290T>A (p.Phe97Tyr) single nucleotide variant not provided [RCV005058915] Chr5:177135393 [GRCh38]
Chr5:176562394 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2249C>T (p.Ala750Val) single nucleotide variant Inborn genetic diseases [RCV002663703]|not provided [RCV005058976] Chr5:177210648 [GRCh38]
Chr5:176637649 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4398C>G (p.Asp1466Glu) single nucleotide variant not provided [RCV005098566] Chr5:177246697 [GRCh38]
Chr5:176673698 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6176A>G (p.Asn2059Ser) single nucleotide variant not provided [RCV005059039] Chr5:177288843 [GRCh38]
Chr5:176715844 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4259C>G (p.Pro1420Arg) single nucleotide variant not provided [RCV005058917] Chr5:177239822 [GRCh38]
Chr5:176666823 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.2250T>A (p.Ala750=) single nucleotide variant not provided [RCV005098522] Chr5:177210649 [GRCh38]
Chr5:176637650 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2417T>C (p.Ile806Thr) single nucleotide variant not provided [RCV005098958] Chr5:177210816 [GRCh38]
Chr5:176637817 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6889A>G (p.Arg2297Gly) single nucleotide variant not provided [RCV005098883] Chr5:177294257 [GRCh38]
Chr5:176721258 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1940G>A (p.Ser647Asn) single nucleotide variant Inborn genetic diseases [RCV002712260]|not provided [RCV005099557] Chr5:177210339 [GRCh38]
Chr5:176637340 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.7454T>C (p.Val2485Ala) single nucleotide variant not provided [RCV005097001] Chr5:177294822 [GRCh38]
Chr5:176721823 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4242del (p.Glu1414fs) deletion Sotos syndrome [RCV004798961] Chr5:177239804 [GRCh38]
Chr5:176666805 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5009C>G (p.Ala1670Gly) single nucleotide variant Inborn genetic diseases [RCV002713281] Chr5:177260031 [GRCh38]
Chr5:176687032 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7995T>C (p.Leu2665=) single nucleotide variant not provided [RCV005098644] Chr5:177295363 [GRCh38]
Chr5:176722364 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2300TAA[1] (p.Ile768del) microsatellite not provided [RCV005098524] Chr5:177210699..177210701 [GRCh38]
Chr5:176637700..176637702 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7410T>C (p.Ala2470=) single nucleotide variant NSD1-related disorder [RCV003898613]|not provided [RCV005098643] Chr5:177294778 [GRCh38]
Chr5:176721779 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5218G>A (p.Glu1740Lys) single nucleotide variant Sotos syndrome [RCV003232841]|not provided [RCV005098968] Chr5:177267633 [GRCh38]
Chr5:176694634 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.2742G>T (p.Leu914Phe) single nucleotide variant not provided [RCV005098633] Chr5:177211141 [GRCh38]
Chr5:176638142 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2091A>G (p.Lys697=) single nucleotide variant not provided [RCV003434540] Chr5:177210490 [GRCh38]
Chr5:176637491 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.151T>C (p.Ser51Pro) single nucleotide variant not provided [RCV005058954] Chr5:177135254 [GRCh38]
Chr5:176562255 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3340G>T (p.Val1114Phe) single nucleotide variant Inborn genetic diseases [RCV002915218]|Sotos syndrome [RCV004725611] Chr5:177211739 [GRCh38]
Chr5:176638740 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.7974G>C (p.Leu2658Phe) single nucleotide variant Inborn genetic diseases [RCV002804079] Chr5:177295342 [GRCh38]
Chr5:176722343 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1078C>G (p.Pro360Ala) single nucleotide variant not provided [RCV005098655] Chr5:177204134 [GRCh38]
Chr5:176631135 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7045C>T (p.Pro2349Ser) single nucleotide variant Inborn genetic diseases [RCV002982780]|not provided [RCV005098694] Chr5:177294413 [GRCh38]
Chr5:176721414 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5143G>T (p.Glu1715Ter) single nucleotide variant not provided [RCV005098594] Chr5:177260165 [GRCh38]
Chr5:176687166 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6850G>T (p.Glu2284Ter) single nucleotide variant not provided [RCV005098741] Chr5:177294218 [GRCh38]
Chr5:176721219 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1414C>A (p.Leu472Ile) single nucleotide variant Inborn genetic diseases [RCV002827085] Chr5:177209813 [GRCh38]
Chr5:176636814 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6634C>T (p.Pro2212Ser) single nucleotide variant not provided [RCV005098690] Chr5:177294002 [GRCh38]
Chr5:176721003 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.922C>G (p.Pro308Ala) single nucleotide variant not provided [RCV005098649] Chr5:177136025 [GRCh38]
Chr5:176563026 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6063T>A (p.His2021Gln) single nucleotide variant not provided [RCV005098740] Chr5:177283840 [GRCh38]
Chr5:176710841 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2240C>T (p.Thr747Ile) single nucleotide variant not provided [RCV005098833] Chr5:177210639 [GRCh38]
Chr5:176637640 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2229G>C (p.Gln743His) single nucleotide variant Inborn genetic diseases [RCV002831327] Chr5:177210628 [GRCh38]
Chr5:176637629 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7722G>A (p.Pro2574=) single nucleotide variant not provided [RCV005098634] Chr5:177295090 [GRCh38]
Chr5:176722091 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1487A>G (p.Lys496Arg) single nucleotide variant not provided [RCV005098872] Chr5:177209886 [GRCh38]
Chr5:176636887 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.405C>T (p.Ser135=) single nucleotide variant not provided [RCV005098687] Chr5:177135508 [GRCh38]
Chr5:176562509 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.199T>A (p.Ser67Thr) single nucleotide variant not provided [RCV005098738] Chr5:177135302 [GRCh38]
Chr5:176562303 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5710C>A (p.Pro1904Thr) single nucleotide variant not provided [RCV005098615] Chr5:177280652 [GRCh38]
Chr5:176707653 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7220C>G (p.Thr2407Ser) single nucleotide variant not provided [RCV005058922] Chr5:177294588 [GRCh38]
Chr5:176721589 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1171C>G (p.Gln391Glu) single nucleotide variant not provided [RCV005098543] Chr5:177204227 [GRCh38]
Chr5:176631228 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2334A>G (p.Leu778=) single nucleotide variant not provided [RCV005098918] Chr5:177210733 [GRCh38]
Chr5:176637734 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6075C>T (p.Pro2025=) single nucleotide variant not provided [RCV005098567] Chr5:177283852 [GRCh38]
Chr5:176710853 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1745T>C (p.Phe582Ser) single nucleotide variant Inborn genetic diseases [RCV002832167]|not provided [RCV005099731] Chr5:177210144 [GRCh38]
Chr5:176637145 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6620C>T (p.Pro2207Leu) single nucleotide variant not provided [RCV005098556] Chr5:177293988 [GRCh38]
Chr5:176720989 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1871T>C (p.Ile624Thr) single nucleotide variant not provided [RCV005098831] Chr5:177210270 [GRCh38]
Chr5:176637271 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3321T>C (p.Asp1107=) single nucleotide variant not provided [RCV005058989] Chr5:177211720 [GRCh38]
Chr5:176638721 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7778C>A (p.Ala2593Asp) single nucleotide variant not provided [RCV005098505] Chr5:177295146 [GRCh38]
Chr5:176722147 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2290G>C (p.Glu764Gln) single nucleotide variant not provided [RCV005098534] Chr5:177210689 [GRCh38]
Chr5:176637690 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7706C>G (p.Pro2569Arg) single nucleotide variant not provided [RCV005098544] Chr5:177295074 [GRCh38]
Chr5:176722075 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5235C>T (p.Cys1745=) single nucleotide variant not provided [RCV005098545] Chr5:177267650 [GRCh38]
Chr5:176694651 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1064-9C>T single nucleotide variant not provided [RCV005098892] Chr5:177204111 [GRCh38]
Chr5:176631112 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7669G>A (p.Gly2557Arg) single nucleotide variant Sotos syndrome [RCV003232637]|not provided [RCV005058906] Chr5:177295037 [GRCh38]
Chr5:176722038 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3238G>A (p.Gly1080Ser) single nucleotide variant Sotos syndrome [RCV003232667] Chr5:177211637 [GRCh38]
Chr5:176638638 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6542C>A (p.Ser2181Tyr) single nucleotide variant not provided [RCV004763511] Chr5:177293910 [GRCh38]
Chr5:176720911 [GRCh37]
Chr5:5q35.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6504_6512del (p.Lys2169_Ala2171del) deletion not provided [RCV005098796] Chr5:177293872..177293880 [GRCh38]
Chr5:176720873..176720881 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5033G>C (p.Gly1678Ala) single nucleotide variant not provided [RCV005058950] Chr5:177260055 [GRCh38]
Chr5:176687056 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.560C>G (p.Thr187Ser) single nucleotide variant not provided [RCV005058899] Chr5:177135663 [GRCh38]
Chr5:176562664 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2970G>T (p.Glu990Asp) single nucleotide variant not provided [RCV005058958] Chr5:177211369 [GRCh38]
Chr5:176638370 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4865A>G (p.Lys1622Arg) single nucleotide variant not provided [RCV005098761] Chr5:177257050 [GRCh38]
Chr5:176684051 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.757C>G (p.Leu253Val) single nucleotide variant not provided [RCV005098941] Chr5:177135860 [GRCh38]
Chr5:176562861 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3819C>T (p.Arg1273=) single nucleotide variant not provided [RCV005098956] Chr5:177235843 [GRCh38]
Chr5:176662844 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2026T>C (p.Leu676=) single nucleotide variant not provided [RCV005098894] Chr5:177210425 [GRCh38]
Chr5:176637426 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4403C>T (p.Pro1468Leu) single nucleotide variant not provided [RCV003227079] Chr5:177246702 [GRCh38]
Chr5:176673703 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3034C>T (p.Arg1012Cys) single nucleotide variant Sotos syndrome [RCV003232779]|not provided [RCV005098806] Chr5:177211433 [GRCh38]
Chr5:176638434 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3921+18A>G single nucleotide variant not provided [RCV005098971] Chr5:177235963 [GRCh38]
Chr5:176662964 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3525C>G (p.Asn1175Lys) single nucleotide variant not provided [RCV005098751] Chr5:177211924 [GRCh38]
Chr5:176638925 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2914A>G (p.Thr972Ala) single nucleotide variant not provided [RCV005098675] Chr5:177211313 [GRCh38]
Chr5:176638314 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.7810G>A (p.Gly2604Arg) single nucleotide variant not provided [RCV005098878] Chr5:177295178 [GRCh38]
Chr5:176722179 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.529G>A (p.Asp177Asn) single nucleotide variant Sotos syndrome [RCV003232644]|not provided [RCV005058949] Chr5:177135632 [GRCh38]
Chr5:176562633 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2155G>A (p.Ala719Thr) single nucleotide variant Inborn genetic diseases [RCV003091573]|Sotos syndrome [RCV003232800]|not provided [RCV005098865] Chr5:177210554 [GRCh38]
Chr5:176637555 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1840G>A (p.Val614Met) single nucleotide variant Inborn genetic diseases [RCV002896391]|Sotos syndrome [RCV005036579]|not provided [RCV005059338] Chr5:177210239 [GRCh38]
Chr5:176637240 [GRCh37]
Chr5:5q35.3		 benign|likely benign|uncertain significance
NM_022455.5(NSD1):c.3309C>G (p.Asp1103Glu) single nucleotide variant not provided [RCV005098876] Chr5:177211708 [GRCh38]
Chr5:176638709 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2565A>G (p.Ala855=) single nucleotide variant not provided [RCV005098880] Chr5:177210964 [GRCh38]
Chr5:176637965 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7067C>T (p.Thr2356Met) single nucleotide variant Inborn genetic diseases [RCV002748051]|not provided [RCV005099618] Chr5:177294435 [GRCh38]
Chr5:176721436 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7721C>T (p.Pro2574Leu) single nucleotide variant Sotos syndrome [RCV003232717]|not provided [RCV005098632] Chr5:177295089 [GRCh38]
Chr5:176722090 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly) single nucleotide variant Sotos syndrome [RCV003232843]|not provided [RCV005098972] Chr5:177210213 [GRCh38]
Chr5:176637214 [GRCh37]
Chr5:5q35.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.897A>T (p.Ser299=) single nucleotide variant not provided [RCV005059007] Chr5:177136000 [GRCh38]
Chr5:176563001 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4528A>G (p.Ser1510Gly) single nucleotide variant Sotos syndrome [RCV003232782]|not provided [RCV005098807] Chr5:177248211 [GRCh38]
Chr5:176675212 [GRCh37]
Chr5:5q35.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4193-8C>T single nucleotide variant not provided [RCV003427583] Chr5:177239748 [GRCh38]
Chr5:176666749 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4273A>C (p.Lys1425Gln) single nucleotide variant not provided [RCV005058895] Chr5:177239836 [GRCh38]
Chr5:176666837 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1786G>C (p.Gly596Arg) single nucleotide variant not provided [RCV005097005] Chr5:177210185 [GRCh38]
Chr5:176637186 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1607A>G (p.Asn536Ser) single nucleotide variant not provided [RCV005098853] Chr5:177210006 [GRCh38]
Chr5:176637007 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1874G>A (p.Gly625Glu) single nucleotide variant not provided [RCV005098836] Chr5:177210273 [GRCh38]
Chr5:176637274 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1812A>T (p.Arg604=) single nucleotide variant Sotos syndrome [RCV003232819]|not provided [RCV005098911] Chr5:177210211 [GRCh38]
Chr5:176637212 [GRCh37]
Chr5:5q35.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.3473A>G (p.Lys1158Arg) single nucleotide variant not provided [RCV005058975] Chr5:177211872 [GRCh38]
Chr5:176638873 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1236+9C>T single nucleotide variant not provided [RCV005098671] Chr5:177204301 [GRCh38]
Chr5:176631302 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6804T>G (p.Ala2268=) single nucleotide variant not provided [RCV005098867] Chr5:177294172 [GRCh38]
Chr5:176721173 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1783G>A (p.Glu595Lys) single nucleotide variant not provided [RCV005058986] Chr5:177210182 [GRCh38]
Chr5:176637183 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.141T>C (p.Thr47=) single nucleotide variant not provided [RCV005058970] Chr5:177135244 [GRCh38]
Chr5:176562245 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7799T>C (p.Phe2600Ser) single nucleotide variant Inborn genetic diseases [RCV004960929]|not provided [RCV005098809] Chr5:177295167 [GRCh38]
Chr5:176722168 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6681G>A (p.Pro2227=) single nucleotide variant not provided [RCV005098946] Chr5:177294049 [GRCh38]
Chr5:176721050 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7401G>A (p.Glu2467=) single nucleotide variant not provided [RCV005098963] Chr5:177294769 [GRCh38]
Chr5:176721770 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6151+10A>T single nucleotide variant not provided [RCV005098789] Chr5:177283938 [GRCh38]
Chr5:176710939 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3155G>A (p.Arg1052His) single nucleotide variant not provided [RCV005098948] Chr5:177211554 [GRCh38]
Chr5:176638555 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4563C>T (p.His1521=) single nucleotide variant not provided [RCV005098835] Chr5:177248246 [GRCh38]
Chr5:176675247 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2181G>C (p.Gln727His) single nucleotide variant not provided [RCV005098847] Chr5:177210580 [GRCh38]
Chr5:176637581 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1407C>A (p.Asp469Glu) single nucleotide variant not provided [RCV005098891] Chr5:177209806 [GRCh38]
Chr5:176636807 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1064-6A>T single nucleotide variant not provided [RCV005098652] Chr5:177204114 [GRCh38]
Chr5:176631115 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.451C>T (p.Leu151=) single nucleotide variant not provided [RCV005098893] Chr5:177135554 [GRCh38]
Chr5:176562555 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1699A>G (p.Ser567Gly) single nucleotide variant not provided [RCV005098870] Chr5:177210098 [GRCh38]
Chr5:176637099 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3425A>G (p.Asn1142Ser) single nucleotide variant Inborn genetic diseases [RCV004960941]|Sotos syndrome [RCV003232786]|not provided [RCV005098816] Chr5:177211824 [GRCh38]
Chr5:176638825 [GRCh37]
Chr5:5q35.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.7768C>G (p.Pro2590Ala) single nucleotide variant not provided [RCV005098653] Chr5:177295136 [GRCh38]
Chr5:176722137 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6898G>A (p.Ala2300Thr) single nucleotide variant not provided [RCV005098654] Chr5:177294266 [GRCh38]
Chr5:176721267 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2241A>G (p.Thr747=) single nucleotide variant not provided [RCV005098819] Chr5:177210640 [GRCh38]
Chr5:176637641 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4107G>A (p.Pro1369=) single nucleotide variant not provided [RCV005098830] Chr5:177238422 [GRCh38]
Chr5:176665423 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2175G>A (p.Thr725=) single nucleotide variant not provided [RCV005098935] Chr5:177210574 [GRCh38]
Chr5:176637575 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7554AGC[2] (p.Ala2521del) microsatellite not provided [RCV005098787] Chr5:177294922..177294924 [GRCh38]
Chr5:176721923..176721925 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7241dup (p.Leu2414fs) duplication Sotos syndrome [RCV003232872] Chr5:177294606..177294607 [GRCh38]
Chr5:176721607..176721608 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5183C>T (p.Ala1728Val) single nucleotide variant not provided [RCV004779578] Chr5:177267598 [GRCh38]
Chr5:176694599 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.857C>T (p.Thr286Ile) single nucleotide variant not provided [RCV004780034] Chr5:177135960 [GRCh38]
Chr5:176562961 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1831C>G (p.Arg611Gly) single nucleotide variant not provided [RCV004781473] Chr5:177210230 [GRCh38]
Chr5:176637231 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5258dup (p.Pro1754fs) duplication Sotos syndrome [RCV004788384] Chr5:177267668..177267669 [GRCh38]
Chr5:176694669..176694670 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg) single nucleotide variant Sotos syndrome [RCV003327305]|not provided [RCV003227346] Chr5:177257098 [GRCh38]
Chr5:176684099 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.1554T>G (p.Phe518Leu) single nucleotide variant not provided [RCV003229215] Chr5:177209953 [GRCh38]
Chr5:176636954 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3796+1_3796+6del deletion Sotos syndrome [RCV003232873] Chr5:177212195..177212200 [GRCh38]
Chr5:176639196..176639201 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr) single nucleotide variant Sotos syndrome [RCV003232874] Chr5:177257104 [GRCh38]
Chr5:176684105 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4501G>A (p.Glu1501Lys) single nucleotide variant not provided [RCV003224007] Chr5:177248184 [GRCh38]
Chr5:176675185 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5651T>A (p.Ile1884Asn) single nucleotide variant not provided [RCV003128922] Chr5:177280593 [GRCh38]
Chr5:176707594 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3197C>G (p.Ala1066Gly) single nucleotide variant Inborn genetic diseases [RCV003206314] Chr5:177211596 [GRCh38]
Chr5:176638597 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7784A>G (p.Lys2595Arg) single nucleotide variant Sotos syndrome [RCV004785121] Chr5:177295152 [GRCh38]
Chr5:176722153 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.37C>A (p.Leu13Met) single nucleotide variant Inborn genetic diseases [RCV003208264] Chr5:177135140 [GRCh38]
Chr5:176562141 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6733G>A (p.Ala2245Thr) single nucleotide variant Sotos syndrome [RCV003232862] Chr5:177294101 [GRCh38]
Chr5:176721102 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1249A>T (p.Ile417Phe) single nucleotide variant Sotos syndrome [RCV003232864]|not provided [RCV005060961] Chr5:177209648 [GRCh38]
Chr5:176636649 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter) single nucleotide variant Sotos syndrome [RCV003232876] Chr5:177235928 [GRCh38]
Chr5:176662929 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1546A>G (p.Ile516Val) single nucleotide variant Inborn genetic diseases [RCV003221074]|not provided [RCV005101348] Chr5:177209945 [GRCh38]
Chr5:176636946 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.1726_1727del (p.Asn576fs) deletion Sotos syndrome [RCV003232860] Chr5:177210121..177210122 [GRCh38]
Chr5:176637122..176637123 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter) single nucleotide variant Sotos syndrome [RCV003232861] Chr5:177294908 [GRCh38]
Chr5:176721909 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3277A>C (p.Ile1093Leu) single nucleotide variant Sotos syndrome [RCV005036702]|not provided [RCV003223897] Chr5:177211676 [GRCh38]
Chr5:176638677 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3922-9T>A single nucleotide variant Sotos syndrome [RCV003232875] Chr5:177238228 [GRCh38]
Chr5:176665229 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.6818G>C (p.Cys2273Ser) single nucleotide variant not provided [RCV003228503] Chr5:177294186 [GRCh38]
Chr5:176721187 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val) single nucleotide variant Sotos syndrome [RCV003232867] Chr5:177283806 [GRCh38]
Chr5:176710807 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5878A>G (p.Thr1960Ala) single nucleotide variant not provided [RCV003152109] Chr5:177280820 [GRCh38]
Chr5:176707821 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5960A>G (p.Tyr1987Cys) single nucleotide variant not provided [RCV003229142] Chr5:177282532 [GRCh38]
Chr5:176709533 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4876A>G (p.Thr1626Ala) single nucleotide variant Inborn genetic diseases [RCV003213625] Chr5:177257061 [GRCh38]
Chr5:176684062 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.817T>C (p.Ser273Pro) single nucleotide variant not provided [RCV003214137] Chr5:177135920 [GRCh38]
Chr5:176562921 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2194G>C (p.Asp732His) single nucleotide variant Inborn genetic diseases [RCV003217203] Chr5:177210593 [GRCh38]
Chr5:176637594 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1775G>A (p.Gly592Asp) single nucleotide variant not provided [RCV003323050] Chr5:177210174 [GRCh38]
Chr5:176637175 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2683A>C (p.Ser895Arg) single nucleotide variant not specified [RCV003324231] Chr5:177211082 [GRCh38]
Chr5:176638083 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5836A>G (p.Ile1946Val) single nucleotide variant not provided [RCV003324983] Chr5:177280778 [GRCh38]
Chr5:176707779 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4783G>C (p.Val1595Leu) single nucleotide variant not provided [RCV003323091] Chr5:177256968 [GRCh38]
Chr5:176683969 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.927+3A>T single nucleotide variant not provided [RCV003325011] Chr5:177136033 [GRCh38]
Chr5:176563034 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3818_3819del (p.Arg1273fs) deletion not provided [RCV003318789] Chr5:177235841..177235842 [GRCh38]
Chr5:176662842..176662843 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7573G>C (p.Asp2525His) single nucleotide variant not provided [RCV003322984] Chr5:177294941 [GRCh38]
Chr5:176721942 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3055C>G (p.Arg1019Gly) single nucleotide variant not provided [RCV003319806] Chr5:177211454 [GRCh38]
Chr5:176638455 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6257dup (p.Asn2087fs) duplication Sotos syndrome [RCV003337725] Chr5:177288921..177288922 [GRCh38]
Chr5:176715922..176715923 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3774delinsCAGCTCACC (p.Gln1259fs) indel Sotos syndrome [RCV003326694] Chr5:177212173 [GRCh38]
Chr5:176639174 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5725T>C (p.Ser1909Pro) single nucleotide variant not provided [RCV003325821] Chr5:177280667 [GRCh38]
Chr5:176707668 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3797-9_3797-7del microsatellite not provided [RCV003327260] Chr5:177235809..177235811 [GRCh38]
Chr5:176662810..176662812 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1 copy number loss Sotos syndrome [RCV003327703] Chr5:176447531..177312407 [GRCh38]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.7551del (p.Ala2519fs) deletion Sotos syndrome [RCV003326300] Chr5:177294917 [GRCh38]
Chr5:176721918 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3193G>T (p.Asp1065Tyr) single nucleotide variant not provided [RCV003325695] Chr5:177211592 [GRCh38]
Chr5:176638593 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter) single nucleotide variant Sotos syndrome [RCV003340822] Chr5:177267683 [GRCh38]
Chr5:176694684 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2452G>A (p.Asp818Asn) single nucleotide variant not provided [RCV003332575] Chr5:177210851 [GRCh38]
Chr5:176637852 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.274G>A (p.Asp92Asn) single nucleotide variant Inborn genetic diseases [RCV003383125] Chr5:177135377 [GRCh38]
Chr5:176562378 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3012C>A (p.Asp1004Glu) single nucleotide variant Inborn genetic diseases [RCV003383759] Chr5:177211411 [GRCh38]
Chr5:176638412 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7126G>A (p.Glu2376Lys) single nucleotide variant Inborn genetic diseases [RCV003374496] Chr5:177294494 [GRCh38]
Chr5:176721495 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6701C>G (p.Thr2234Ser) single nucleotide variant NSD1-related disorder [RCV003393138] Chr5:177294069 [GRCh38]
Chr5:176721070 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg) single nucleotide variant Inborn genetic diseases [RCV003367311]|Sotos syndrome [RCV003492873]|not provided [RCV005104144] Chr5:177211413 [GRCh38]
Chr5:176638414 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs) insertion Sotos syndrome [RCV003333306] Chr5:177282479..177282480 [GRCh38]
Chr5:176709480..176709481 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser) single nucleotide variant Sotos syndrome [RCV003333663] Chr5:177280652 [GRCh38]
Chr5:176707653 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.557A>T (p.Glu186Val) single nucleotide variant not provided [RCV005094164] Chr5:177135660 [GRCh38]
Chr5:176562661 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_022455.5(NSD1):c.1980C>A (p.Asn660Lys) single nucleotide variant not provided [RCV001755049] Chr5:177210379 [GRCh38]
Chr5:176637380 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr) single nucleotide variant Sotos syndrome [RCV003232865] Chr5:177295043 [GRCh38]
Chr5:176722044 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1843T>G (p.Cys615Gly) single nucleotide variant Sotos syndrome [RCV003232866] Chr5:177210242 [GRCh38]
Chr5:176637243 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1760G>C (p.Gly587Ala) single nucleotide variant Sotos syndrome [RCV003232863] Chr5:177210159 [GRCh38]
Chr5:176637160 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3706G>A (p.Val1236Ile) single nucleotide variant not provided [RCV003329926] Chr5:177212105 [GRCh38]
Chr5:176639106 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2428T>C (p.Cys810Arg) single nucleotide variant Sotos syndrome [RCV003337775] Chr5:177210827 [GRCh38]
Chr5:176637828 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5972_5973dup (p.Asp1992fs) duplication Sotos syndrome [RCV003337781] Chr5:177282543..177282544 [GRCh38]
Chr5:176709544..176709545 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4766-2A>C single nucleotide variant Sotos syndrome [RCV003327342] Chr5:177256949 [GRCh38]
Chr5:176683950 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3577A>G (p.Ser1193Gly) single nucleotide variant Sotos syndrome [RCV003338120] Chr5:177211976 [GRCh38]
Chr5:176638977 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg) single nucleotide variant Sotos syndrome [RCV003335951] Chr5:177269672 [GRCh38]
Chr5:176696673 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5359A>G (p.Met1787Val) single nucleotide variant Sotos syndrome [RCV003335785] Chr5:177269657 [GRCh38]
Chr5:176696658 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2493dup (p.Lys832fs) duplication Sotos syndrome [RCV003459833] Chr5:177210889..177210890 [GRCh38]
Chr5:176637890..176637891 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6030del (p.Gly2013fs) deletion Sotos syndrome [RCV003459835] Chr5:177283807 [GRCh38]
Chr5:176710808 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2(chr5:176483840-176588195)x1 copy number loss not provided [RCV003485497] Chr5:176483840..176588195 [GRCh37]
Chr5:5q35.2		 pathogenic
NM_022455.5(NSD1):c.4459A>G (p.Lys1487Glu) single nucleotide variant Sotos syndrome [RCV003447755] Chr5:177246758 [GRCh38]
Chr5:176673759 [GRCh37]
Chr5:5q35.3		 uncertain significance
Single allele deletion not provided [RCV003448669] Chr5:175559209..177430432 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1 copy number loss not provided [RCV003485494] Chr5:175332333..177469711 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.2528A>T (p.His843Leu) single nucleotide variant not provided [RCV003443747] Chr5:177210927 [GRCh38]
Chr5:176637928 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7234G>T (p.Ala2412Ser) single nucleotide variant not provided [RCV003430025] Chr5:177294602 [GRCh38]
Chr5:176721603 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7765C>T (p.Leu2589=) single nucleotide variant not provided [RCV003430026] Chr5:177295133 [GRCh38]
Chr5:176722134 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4509G>T (p.Met1503Ile) single nucleotide variant NSD1-related disorder [RCV003422464] Chr5:177248192 [GRCh38]
Chr5:176675193 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6502G>A (p.Gly2168Arg) single nucleotide variant not specified [RCV003479567] Chr5:177293870 [GRCh38]
Chr5:176720871 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4433C>T (p.Ala1478Val) single nucleotide variant NSD1-related disorder [RCV003400403] Chr5:177246732 [GRCh38]
Chr5:176673733 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4209A>C (p.Lys1403Asn) single nucleotide variant not provided [RCV004787495] Chr5:177239772 [GRCh38]
Chr5:176666773 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5304-2A>G single nucleotide variant Sotos syndrome [RCV003389288] Chr5:177269600 [GRCh38]
Chr5:176696601 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.173A>G (p.Gln58Arg) single nucleotide variant not provided [RCV003443999] Chr5:177135276 [GRCh38]
Chr5:176562277 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6622T>G (p.Cys2208Gly) single nucleotide variant Sotos syndrome [RCV004789714] Chr5:177293990 [GRCh38]
Chr5:176720991 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6355G>C (p.Asp2119His) single nucleotide variant Sotos syndrome [RCV004789715] Chr5:177292050 [GRCh38]
Chr5:176719051 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser) single nucleotide variant Sotos syndrome [RCV003459832] Chr5:177257113 [GRCh38]
Chr5:176684114 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6216T>G (p.Cys2072Trp) single nucleotide variant NSD1-related disorder [RCV003404657] Chr5:177288883 [GRCh38]
Chr5:176715884 [GRCh37]
Chr5:5q35.3		 likely pathogenic|uncertain significance
NM_022455.5(NSD1):c.395G>A (p.Cys132Tyr) single nucleotide variant NSD1-related disorder [RCV003391279]|not provided [RCV005104324] Chr5:177135498 [GRCh38]
Chr5:176562499 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5390_5397dup (p.Gly1800fs) duplication Sotos syndrome [RCV003459834] Chr5:177269687..177269688 [GRCh38]
Chr5:176696688..176696689 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1372G>A (p.Glu458Lys) single nucleotide variant not provided [RCV003443249] Chr5:177209771 [GRCh38]
Chr5:176636772 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6967G>T (p.Ala2323Ser) single nucleotide variant not provided [RCV003443504] Chr5:177294335 [GRCh38]
Chr5:176721336 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5510-1G>A single nucleotide variant NSD1-related disorder [RCV003394487] Chr5:177273671 [GRCh38]
Chr5:176700672 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5816G>T (p.Arg1939Leu) single nucleotide variant not provided [RCV003443456] Chr5:177280758 [GRCh38]
Chr5:176707759 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6824G>A (p.Arg2275Lys) single nucleotide variant not provided [RCV003443466] Chr5:177294192 [GRCh38]
Chr5:176721193 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4715G>A (p.Gly1572Glu) single nucleotide variant NSD1-related disorder [RCV003404208] Chr5:177251803 [GRCh38]
Chr5:176678804 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.583T>G (p.Tyr195Asp) single nucleotide variant NSD1-related disorder [RCV003391534] Chr5:177135686 [GRCh38]
Chr5:176562687 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2860A>G (p.Lys954Glu) single nucleotide variant NSD1-related disorder [RCV003412077] Chr5:177211259 [GRCh38]
Chr5:176638260 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7948T>C (p.Trp2650Arg) single nucleotide variant NSD1-related disorder [RCV003412125]|not provided [RCV005104315] Chr5:177295316 [GRCh38]
Chr5:176722317 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.642A>C (p.Thr214=) single nucleotide variant not provided [RCV003430017] Chr5:177135745 [GRCh38]
Chr5:176562746 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter) single nucleotide variant Sotos syndrome [RCV003444404] Chr5:177238255 [GRCh38]
Chr5:176665256 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.7757G>A (p.Gly2586Asp) single nucleotide variant NSD1-related disorder [RCV003404465] Chr5:177295125 [GRCh38]
Chr5:176722126 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3207G>C (p.Gln1069His) single nucleotide variant NSD1-related disorder [RCV003421052]|not provided [RCV005099984] Chr5:177211606 [GRCh38]
Chr5:176638607 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.585T>C (p.Tyr195=) single nucleotide variant not provided [RCV003428728] Chr5:177135688 [GRCh38]
Chr5:176562689 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3192T>C (p.Leu1064=) single nucleotide variant not provided [RCV003428731] Chr5:177211591 [GRCh38]
Chr5:176638592 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3331G>A (p.Asp1111Asn) single nucleotide variant not provided [RCV003428732] Chr5:177211730 [GRCh38]
Chr5:176638731 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.4508T>G (p.Met1503Arg) single nucleotide variant NSD1-related disorder [RCV003391584] Chr5:177248191 [GRCh38]
Chr5:176675192 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6845C>T (p.Pro2282Leu) single nucleotide variant not specified [RCV003404717] Chr5:177294213 [GRCh38]
Chr5:176721214 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1089G>A (p.Gln363=) single nucleotide variant not provided [RCV003430018] Chr5:177204145 [GRCh38]
Chr5:176631146 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1711T>G (p.Ser571Ala) single nucleotide variant not provided [RCV003430019] Chr5:177210110 [GRCh38]
Chr5:176637111 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3637A>G (p.Ile1213Val) single nucleotide variant Inborn genetic diseases [RCV004961309]|not provided [RCV003430020] Chr5:177212036 [GRCh38]
Chr5:176639037 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3975T>C (p.Ala1325=) single nucleotide variant not provided [RCV003430022] Chr5:177238290 [GRCh38]
Chr5:176665291 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4378+5G>A single nucleotide variant not provided [RCV003430023] Chr5:177244275 [GRCh38]
Chr5:176671276 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6151+1G>T single nucleotide variant NSD1-related disorder [RCV003414330] Chr5:177283929 [GRCh38]
Chr5:176710930 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2358G>C (p.Lys786Asn) single nucleotide variant NSD1-related disorder [RCV003414395] Chr5:177210757 [GRCh38]
Chr5:176637758 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1236+5G>A single nucleotide variant not provided [RCV003428729] Chr5:177204297 [GRCh38]
Chr5:176631298 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.319G>A (p.Ala107Thr) single nucleotide variant NSD1-related disorder [RCV003405920] Chr5:177135422 [GRCh38]
Chr5:176562423 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4072C>T (p.Gln1358Ter) single nucleotide variant NSD1-related disorder [RCV003416969] Chr5:177238387 [GRCh38]
Chr5:176665388 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6314G>A (p.Gly2105Glu) single nucleotide variant not provided [RCV003443732] Chr5:177292009 [GRCh38]
Chr5:176719010 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4823dup (p.Pro1609fs) duplication Sotos syndrome [RCV003405204] Chr5:177257007..177257008 [GRCh38]
Chr5:176684008..176684009 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4944A>T (p.Pro1648=) single nucleotide variant not provided [RCV003430024] Chr5:177257129 [GRCh38]
Chr5:176684130 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1621G>A (p.Asp541Asn) single nucleotide variant not provided [RCV003442385] Chr5:177210020 [GRCh38]
Chr5:176637021 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.950C>T (p.Thr317Met) single nucleotide variant NSD1-related disorder [RCV003414144]|not provided [RCV005104316] Chr5:177191906 [GRCh38]
Chr5:176618907 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.1694C>T (p.Pro565Leu) single nucleotide variant not provided [RCV003428730] Chr5:177210093 [GRCh38]
Chr5:176637094 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5046T>G (p.Leu1682=) single nucleotide variant not provided [RCV003428733] Chr5:177260068 [GRCh38]
Chr5:176687069 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6566_6567dup (p.Met2190fs) duplication Sotos syndrome [RCV003592050] Chr5:177293932..177293933 [GRCh38]
Chr5:176720933..176720934 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2800G>A (p.Val934Ile) single nucleotide variant Sotos syndrome [RCV003493113] Chr5:177211199 [GRCh38]
Chr5:176638200 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser) single nucleotide variant Sotos syndrome [RCV003493114] Chr5:177210707 [GRCh38]
Chr5:176637708 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn) single nucleotide variant Sotos syndrome [RCV003493115] Chr5:177211977 [GRCh38]
Chr5:176638978 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5616T>A (p.His1872Gln) single nucleotide variant Sotos syndrome [RCV003493299] Chr5:177273778 [GRCh38]
Chr5:176700779 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4196del (p.Asn1399fs) deletion Sotos syndrome [RCV003883341] Chr5:177239757 [GRCh38]
Chr5:176666758 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4043A>G (p.Glu1348Gly) single nucleotide variant not provided [RCV005170557] Chr5:177238358 [GRCh38]
Chr5:176665359 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7009A>C (p.Thr2337Pro) single nucleotide variant not provided [RCV005062429] Chr5:177294377 [GRCh38]
Chr5:176721378 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1583del (p.Lys528fs) deletion Sotos syndrome [RCV004577128] Chr5:177209980 [GRCh38]
Chr5:176636981 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp) single nucleotide variant Sotos syndrome [RCV003886317] Chr5:177273672 [GRCh38]
Chr5:176700673 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4014del (p.Glu1340fs) deletion Sotos syndrome [RCV003890764] Chr5:177238328 [GRCh38]
Chr5:176665329 [GRCh37]
Chr5:5q35.3		 likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1 copy number loss not specified [RCV003986570] Chr5:176385815..178410738 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176693044-176709760)x1 copy number loss not specified [RCV003986565] Chr5:176693044..176709760 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4139_4140dup (p.Val1381fs) duplication Sotos syndrome [RCV003985995] Chr5:177238453..177238454 [GRCh38]
Chr5:176665454..176665455 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4431T>C (p.Ala1477=) single nucleotide variant not provided [RCV003542599] Chr5:177246730 [GRCh38]
Chr5:176673731 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4127C>A (p.Pro1376His) single nucleotide variant not specified [RCV003994821] Chr5:177238442 [GRCh38]
Chr5:176665443 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6909G>A (p.Gly2303=) single nucleotide variant NSD1-related disorder [RCV003977265] Chr5:177294277 [GRCh38]
Chr5:176721278 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5766C>T (p.Pro1922=) single nucleotide variant NSD1-related disorder [RCV003902179] Chr5:177280708 [GRCh38]
Chr5:176707709 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2370A>C (p.Ile790=) single nucleotide variant NSD1-related disorder [RCV003896574] Chr5:177210769 [GRCh38]
Chr5:176637770 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6929T>C (p.Val2310Ala) single nucleotide variant not provided [RCV003993485] Chr5:177294297 [GRCh38]
Chr5:176721298 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter) single nucleotide variant Sotos syndrome [RCV003988747] Chr5:177210722 [GRCh38]
Chr5:176637723 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1286A>G (p.Glu429Gly) single nucleotide variant Sotos syndrome [RCV003988976] Chr5:177209685 [GRCh38]
Chr5:176636686 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5503A>G (p.Lys1835Glu) single nucleotide variant Sotos syndrome [RCV003993517] Chr5:177269801 [GRCh38]
Chr5:176696802 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5849T>C (p.Leu1950Ser) single nucleotide variant Inborn genetic diseases [RCV004369748]|NSD1-related disorder [RCV003901991] Chr5:177280791 [GRCh38]
Chr5:176707792 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7079G>T (p.Arg2360Met) single nucleotide variant not specified [RCV004527062] Chr5:177294447 [GRCh38]
Chr5:176721448 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2466_2467del (p.Pro823fs) microsatellite Sotos syndrome [RCV003990298] Chr5:177210862..177210863 [GRCh38]
Chr5:176637863..176637864 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.42G>C (p.Leu14=) single nucleotide variant NSD1-related disorder [RCV003963879] Chr5:177135145 [GRCh38]
Chr5:176562146 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7876dup (p.Ala2626fs) duplication NSD1-related disorder [RCV003896934] Chr5:177295241..177295242 [GRCh38]
Chr5:176722242..176722243 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.852CAGTAC[1] (p.285ST[1]) microsatellite not provided [RCV004547002] Chr5:177135954..177135959 [GRCh38]
Chr5:176562955..176562960 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1133T>C (p.Val378Ala) single nucleotide variant NSD1-related disorder [RCV003983677] Chr5:177204189 [GRCh38]
Chr5:176631190 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2309G>A (p.Gly770Asp) single nucleotide variant NSD1-related disorder [RCV003902038]|not provided [RCV005101607] Chr5:177210708 [GRCh38]
Chr5:176637709 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3892_3896del (p.Gln1298fs) deletion not provided [RCV004547158] Chr5:177235912..177235916 [GRCh38]
Chr5:176662913..176662917 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2209A>G (p.Thr737Ala) single nucleotide variant not provided [RCV003886672] Chr5:177210608 [GRCh38]
Chr5:176637609 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6501C>A (p.Cys2167Ter) single nucleotide variant NSD1-related disorder [RCV003924302] Chr5:177293869 [GRCh38]
Chr5:176720870 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.1925C>A (p.Ser642Tyr) single nucleotide variant Sotos syndrome [RCV003990912] Chr5:177210324 [GRCh38]
Chr5:176637325 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.880G>C (p.Glu294Gln) single nucleotide variant Inborn genetic diseases [RCV004493691] Chr5:177135983 [GRCh38]
Chr5:176562984 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.937A>G (p.Lys313Glu) single nucleotide variant Inborn genetic diseases [RCV004493692] Chr5:177191893 [GRCh38]
Chr5:176618894 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1634C>G (p.Thr545Arg) single nucleotide variant Inborn genetic diseases [RCV004493674]|not provided [RCV005104805] Chr5:177210033 [GRCh38]
Chr5:176637034 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3463G>T (p.Val1155Leu) single nucleotide variant Inborn genetic diseases [RCV004493680]|not provided [RCV005104806] Chr5:177211862 [GRCh38]
Chr5:176638863 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.4916T>C (p.Ile1639Thr) single nucleotide variant Inborn genetic diseases [RCV004493683] Chr5:177257101 [GRCh38]
Chr5:176684102 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6683T>A (p.Leu2228Gln) single nucleotide variant Inborn genetic diseases [RCV004493688] Chr5:177294051 [GRCh38]
Chr5:176721052 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2778G>T (p.Arg926=) single nucleotide variant not provided [RCV003887649] Chr5:177211177 [GRCh38]
Chr5:176638178 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3815A>T (p.Lys1272Ile) single nucleotide variant Sotos syndrome [RCV003990348] Chr5:177235839 [GRCh38]
Chr5:176662840 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1084dup (p.Arg362fs) duplication Inborn genetic diseases [RCV004493673] Chr5:177204139..177204140 [GRCh38]
Chr5:176631140..176631141 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4862A>G (p.Gln1621Arg) single nucleotide variant Inborn genetic diseases [RCV004493682] Chr5:177257047 [GRCh38]
Chr5:176684048 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2122C>G (p.His708Asp) single nucleotide variant Inborn genetic diseases [RCV004493676] Chr5:177210521 [GRCh38]
Chr5:176637522 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2653T>A (p.Ser885Thr) single nucleotide variant Inborn genetic diseases [RCV004493678] Chr5:177211052 [GRCh38]
Chr5:176638053 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3622A>G (p.Thr1208Ala) single nucleotide variant Inborn genetic diseases [RCV004493681]|not provided [RCV005065155] Chr5:177212021 [GRCh38]
Chr5:176639022 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.5465G>A (p.Ser1822Asn) single nucleotide variant Inborn genetic diseases [RCV004493684]|not provided [RCV005104807] Chr5:177269763 [GRCh38]
Chr5:176696764 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.5780C>A (p.Ala1927Asp) single nucleotide variant Inborn genetic diseases [RCV004493686] Chr5:177280722 [GRCh38]
Chr5:176707723 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.658G>A (p.Gly220Ser) single nucleotide variant Inborn genetic diseases [RCV004493687]|Sotos syndrome [RCV005040679] Chr5:177135761 [GRCh38]
Chr5:176562762 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.77A>G (p.Glu26Gly) single nucleotide variant Inborn genetic diseases [RCV004493690]|not provided [RCV005104808] Chr5:177135180 [GRCh38]
Chr5:176562181 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.3449G>C (p.Gly1150Ala) single nucleotide variant Inborn genetic diseases [RCV004493679] Chr5:177211848 [GRCh38]
Chr5:176638849 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7135T>C (p.Ser2379Pro) single nucleotide variant Inborn genetic diseases [RCV004493689] Chr5:177294503 [GRCh38]
Chr5:176721504 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6151+17G>C single nucleotide variant not specified [RCV004527108] Chr5:177283945 [GRCh38]
Chr5:176710946 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4096_4097dup (p.Glu1367fs) duplication Sotos syndrome [RCV004560453] Chr5:177238410..177238411 [GRCh38]
Chr5:176665411..176665412 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1 copy number loss not provided [RCV004577486] Chr5:175470000..177450000 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.3178C>G (p.Pro1060Ala) single nucleotide variant Sotos syndrome [RCV004547226] Chr5:177211577 [GRCh38]
Chr5:176638578 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5711C>T (p.Pro1904Leu) single nucleotide variant Sotos syndrome [RCV004596054] Chr5:177280653 [GRCh38]
Chr5:176707654 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4376G>T (p.Gly1459Val) single nucleotide variant Inborn genetic diseases [RCV004638732] Chr5:177244268 [GRCh38]
Chr5:176671269 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2770G>A (p.Glu924Lys) single nucleotide variant Inborn genetic diseases [RCV004638734] Chr5:177211169 [GRCh38]
Chr5:176638170 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1937G>A (p.Ser646Asn) single nucleotide variant Inborn genetic diseases [RCV004650492] Chr5:177210336 [GRCh38]
Chr5:176637337 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1611dup (p.Ile538fs) duplication Inborn genetic diseases [RCV004650493] Chr5:177210007..177210008 [GRCh38]
Chr5:176637008..176637009 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.514C>T (p.Gln172Ter) single nucleotide variant not specified [RCV004597544] Chr5:177135617 [GRCh38]
Chr5:176562618 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6046G>T (p.Ala2016Ser) single nucleotide variant Inborn genetic diseases [RCV004650494] Chr5:177283823 [GRCh38]
Chr5:176710824 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6265C>T (p.Pro2089Ser) single nucleotide variant Inborn genetic diseases [RCV004650495] Chr5:177291960 [GRCh38]
Chr5:176718961 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1787G>A (p.Gly596Asp) single nucleotide variant not provided [RCV004588638] Chr5:177210186 [GRCh38]
Chr5:176637187 [GRCh37]
Chr5:5q35.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_022455.5(NSD1):c.2603_2604del (p.Ser868fs) microsatellite Sotos syndrome [RCV005410970]|not provided [RCV004592434] Chr5:177210998..177210999 [GRCh38]
Chr5:176637999..176638000 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4591dup (p.Met1531fs) duplication Sotos syndrome [RCV004593657]|not provided [RCV005102015] Chr5:177248267..177248268 [GRCh38]
Chr5:176675268..176675269 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.7713C>T (p.Ser2571=) single nucleotide variant not provided [RCV004598653] Chr5:177295081 [GRCh38]
Chr5:176722082 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.255G>A (p.Glu85=) single nucleotide variant not provided [RCV004597707] Chr5:177135358 [GRCh38]
Chr5:176562359 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6035A>G (p.Lys2012Arg) single nucleotide variant not provided [RCV004573116] Chr5:177283812 [GRCh38]
Chr5:176710813 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.1633_1634dup (p.Gln546fs) duplication Sotos syndrome [RCV004578008] Chr5:177210031..177210032 [GRCh38]
Chr5:176637032..176637033 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2158G>C (p.Glu720Gln) single nucleotide variant Inborn genetic diseases [RCV004638733] Chr5:177210557 [GRCh38]
Chr5:176637558 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1870A>G (p.Ile624Val) single nucleotide variant Inborn genetic diseases [RCV004650491]|Sotos syndrome [RCV005038761] Chr5:177210269 [GRCh38]
Chr5:176637270 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.7016C>G (p.Pro2339Arg) single nucleotide variant not provided [RCV004598857] Chr5:177294384 [GRCh38]
Chr5:176721385 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2045A>G (p.Glu682Gly) single nucleotide variant Inborn genetic diseases [RCV004638731]|not provided [RCV005102344] Chr5:177210444 [GRCh38]
Chr5:176637445 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.1253dup (p.Leu418fs) duplication Sotos syndrome [RCV004789718] Chr5:177209648..177209649 [GRCh38]
Chr5:176636649..176636650 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5915T>C (p.Val1972Ala) single nucleotide variant not provided [RCV004778746] Chr5:177282487 [GRCh38]
Chr5:176709488 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5045T>C (p.Leu1682Pro) single nucleotide variant not provided [RCV004724194] Chr5:177260067 [GRCh38]
Chr5:176687068 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5423A>T (p.His1808Leu) single nucleotide variant not provided [RCV004772116] Chr5:177269721 [GRCh38]
Chr5:176696722 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3035G>C (p.Arg1012Pro) single nucleotide variant NSD1-related disorder [RCV004752187] Chr5:177211434 [GRCh38]
Chr5:176638435 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3717A>G (p.Lys1239=) single nucleotide variant not provided [RCV004722586] Chr5:177212116 [GRCh38]
Chr5:176639117 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7046_7048del (p.Pro2349del) deletion NSD1-related disorder [RCV004752476]|not provided [RCV005059890] Chr5:177294412..177294414 [GRCh38]
Chr5:176721413..176721415 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6350G>C (p.Arg2117Pro) single nucleotide variant not provided [RCV004760202] Chr5:177292045 [GRCh38]
Chr5:176719046 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5676A>G (p.Ile1892Met) single nucleotide variant not provided [RCV004722123] Chr5:177280618 [GRCh38]
Chr5:176707619 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4213C>G (p.Gln1405Glu) single nucleotide variant not provided [RCV004763906] Chr5:177239776 [GRCh38]
Chr5:176666777 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.569A>G (p.Asn190Ser) single nucleotide variant NSD1-related disorder [RCV004751082]|not provided [RCV005103700] Chr5:177135672 [GRCh38]
Chr5:176562673 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.2062A>G (p.Arg688Gly) single nucleotide variant Sotos syndrome [RCV005038844]|not provided [RCV004810438] Chr5:177210461 [GRCh38]
Chr5:176637462 [GRCh37]
Chr5:5q35.3		 uncertain significance
Single allele duplication Russell-Silver syndrome [RCV004698950] Chr5:177041167..177411815 [GRCh38]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.3797-8dup duplication NSD1-related disorder [RCV004752468]|not provided [RCV005103878] Chr5:177235812..177235813 [GRCh38]
Chr5:176662813..176662814 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7959del (p.Ser2654fs) deletion Sotos syndrome [RCV004764561] Chr5:177295325 [GRCh38]
Chr5:176722326 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.1893del (p.Lys631fs) deletion Sotos syndrome [RCV004764564] Chr5:177210292 [GRCh38]
Chr5:176637293 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.838G>T (p.Asp280Tyr) single nucleotide variant NSD1-related disorder [RCV004730412] Chr5:177135941 [GRCh38]
Chr5:176562942 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.659G>A (p.Gly220Asp) single nucleotide variant not provided [RCV004721940] Chr5:177135762 [GRCh38]
Chr5:176562763 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3374A>G (p.Lys1125Arg) single nucleotide variant not provided [RCV004761393] Chr5:177211773 [GRCh38]
Chr5:176638774 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7704dup (p.Pro2569fs) duplication not provided [RCV004811321] Chr5:177295069..177295070 [GRCh38]
Chr5:176722070..176722071 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3922-1G>A single nucleotide variant NSD1-related disorder [RCV004730630] Chr5:177238236 [GRCh38]
Chr5:176665237 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2839A>T (p.Asn947Tyr) single nucleotide variant not provided [RCV004777371] Chr5:177211238 [GRCh38]
Chr5:176638239 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5713T>G (p.Cys1905Gly) single nucleotide variant Sotos syndrome [RCV004795564] Chr5:177280655 [GRCh38]
Chr5:176707656 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6362G>T (p.Cys2121Phe) single nucleotide variant Sotos syndrome [RCV004795811] Chr5:177292057 [GRCh38]
Chr5:176719058 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.70G>T (p.Ala24Ser) single nucleotide variant Sotos syndrome [RCV004723656] Chr5:177135173 [GRCh38]
Chr5:176562174 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4883T>G (p.Met1628Arg) single nucleotide variant not provided [RCV004811660] Chr5:177257068 [GRCh38]
Chr5:176684069 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2075C>G (p.Thr692Arg) single nucleotide variant NSD1-related disorder [RCV004752184] Chr5:177210474 [GRCh38]
Chr5:176637475 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4978C>T (p.Arg1660Cys) single nucleotide variant not provided [RCV004766098] Chr5:177260000 [GRCh38]
Chr5:176687001 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.640A>G (p.Thr214Ala) single nucleotide variant not provided [RCV004727493] Chr5:177135743 [GRCh38]
Chr5:176562744 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6968C>T (p.Ala2323Val) single nucleotide variant not provided [RCV004727457] Chr5:177294336 [GRCh38]
Chr5:176721337 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1399G>C (p.Glu467Gln) single nucleotide variant Sotos syndrome [RCV005038793]|not provided [RCV004722271] Chr5:177209798 [GRCh38]
Chr5:176636799 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6436T>G (p.Cys2146Gly) single nucleotide variant not provided [RCV004770704] Chr5:177292131 [GRCh38]
Chr5:176719132 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.692C>T (p.Pro231Leu) single nucleotide variant not provided [RCV004759785] Chr5:177135795 [GRCh38]
Chr5:176562796 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7985G>C (p.Cys2662Ser) single nucleotide variant NSD1-related disorder [RCV004732394] Chr5:177295353 [GRCh38]
Chr5:176722354 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4522G>T (p.Ala1508Ser) single nucleotide variant Inborn genetic diseases [RCV004954068]|Sotos syndrome [RCV005038854] Chr5:177248205 [GRCh38]
Chr5:176675206 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.754_756delinsTTG (p.Ala252Leu) indel not provided [RCV004798464] Chr5:177135857..177135859 [GRCh38]
Chr5:176562858..176562860 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6463+2T>C single nucleotide variant NSD1-related disorder [RCV004751023] Chr5:177292160 [GRCh38]
Chr5:176719161 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7126del (p.Glu2376fs) deletion Sotos syndrome [RCV004796579] Chr5:177294493 [GRCh38]
Chr5:176721494 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5293G>T (p.Gly1765Ter) single nucleotide variant Sotos syndrome [RCV004785922] Chr5:177267708 [GRCh38]
Chr5:176694709 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3493C>G (p.Gln1165Glu) single nucleotide variant not provided [RCV004768395] Chr5:177211892 [GRCh38]
Chr5:176638893 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1508C>T (p.Ser503Phe) single nucleotide variant not provided [RCV004761221] Chr5:177209907 [GRCh38]
Chr5:176636908 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7592A>C (p.Lys2531Thr) single nucleotide variant NSD1-related disorder [RCV004752440] Chr5:177294960 [GRCh38]
Chr5:176721961 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7492G>A (p.Gly2498Arg) single nucleotide variant not provided [RCV004762400] Chr5:177294860 [GRCh38]
Chr5:176721861 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5184T>A (p.Ala1728=) single nucleotide variant NSD1-related disorder [RCV004730523]|not provided [RCV005103659] Chr5:177267599 [GRCh38]
Chr5:176694600 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7459G>A (p.Glu2487Lys) single nucleotide variant NSD1-related disorder [RCV004730706] Chr5:177294827 [GRCh38]
Chr5:176721828 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1063+10G>A single nucleotide variant NSD1-related disorder [RCV004731357] Chr5:177192029 [GRCh38]
Chr5:176619030 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3584dup (p.Val1196fs) duplication NSD1-related disorder [RCV004731373] Chr5:177211980..177211981 [GRCh38]
Chr5:176638981..176638982 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4973T>G (p.Leu1658Trp) single nucleotide variant not provided [RCV004725809] Chr5:177259995 [GRCh38]
Chr5:176686996 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3796+1G>A single nucleotide variant Sotos syndrome [RCV004723665] Chr5:177212196 [GRCh38]
Chr5:176639197 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5044C>T (p.Leu1682Phe) single nucleotide variant not provided [RCV004771877] Chr5:177260066 [GRCh38]
Chr5:176687067 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.484G>A (p.Ala162Thr) single nucleotide variant not provided [RCV004723946] Chr5:177135587 [GRCh38]
Chr5:176562588 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5269A>G (p.Arg1757Gly) single nucleotide variant not provided [RCV004773777] Chr5:177267684 [GRCh38]
Chr5:176694685 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.796A>G (p.Thr266Ala) single nucleotide variant Sotos syndrome [RCV005038828]|not provided [RCV004773830] Chr5:177135899 [GRCh38]
Chr5:176562900 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6088C>T (p.Gln2030Ter) single nucleotide variant not provided [RCV004720149] Chr5:177283865 [GRCh38]
Chr5:176710866 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2827G>A (p.Asp943Asn) single nucleotide variant Sotos syndrome [RCV005035473] Chr5:177211226 [GRCh38]
Chr5:176638227 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1828C>G (p.Gln610Glu) single nucleotide variant Sotos syndrome [RCV005035456] Chr5:177210227 [GRCh38]
Chr5:176637228 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4846C>G (p.His1616Asp) single nucleotide variant Sotos syndrome [RCV005035496] Chr5:177257031 [GRCh38]
Chr5:176684032 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5357A>G (p.Lys1786Arg) single nucleotide variant Sotos syndrome [RCV005035498]|not provided [RCV005112895] Chr5:177269655 [GRCh38]
Chr5:176696656 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6390C>T (p.Leu2130=) single nucleotide variant Sotos syndrome [RCV005035505]|not provided [RCV005112896] Chr5:177292085 [GRCh38]
Chr5:176719086 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.6391G>A (p.Val2131Ile) single nucleotide variant Sotos syndrome [RCV005035506] Chr5:177292086 [GRCh38]
Chr5:176719087 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6895C>G (p.Leu2299Val) single nucleotide variant Sotos syndrome [RCV005035511] Chr5:177294263 [GRCh38]
Chr5:176721264 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6528G>A (p.Glu2176=) single nucleotide variant Sotos syndrome [RCV005035507] Chr5:177293896 [GRCh38]
Chr5:176720897 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6744C>T (p.Pro2248=) single nucleotide variant Sotos syndrome [RCV005035509] Chr5:177294112 [GRCh38]
Chr5:176721113 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6927G>A (p.Leu2309=) single nucleotide variant Sotos syndrome [RCV005035512] Chr5:177294295 [GRCh38]
Chr5:176721296 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7249A>G (p.Arg2417Gly) single nucleotide variant Sotos syndrome [RCV005035513] Chr5:177294617 [GRCh38]
Chr5:176721618 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7546T>C (p.Ser2516Pro) single nucleotide variant Sotos syndrome [RCV005035517] Chr5:177294914 [GRCh38]
Chr5:176721915 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7611A>T (p.Arg2537Ser) single nucleotide variant Sotos syndrome [RCV005035519]|not provided [RCV005105245] Chr5:177294979 [GRCh38]
Chr5:176721980 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.191A>G (p.Asp64Gly) single nucleotide variant Sotos syndrome [RCV005035427] Chr5:177135294 [GRCh38]
Chr5:176562295 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.482A>G (p.Asp161Gly) single nucleotide variant Sotos syndrome [RCV005035437] Chr5:177135585 [GRCh38]
Chr5:176562586 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.535A>G (p.Ser179Gly) single nucleotide variant Sotos syndrome [RCV005035439]|not provided [RCV005112879] Chr5:177135638 [GRCh38]
Chr5:176562639 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.1063+12A>G single nucleotide variant Sotos syndrome [RCV005035444] Chr5:177192031 [GRCh38]
Chr5:176619032 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1472A>G (p.Glu491Gly) single nucleotide variant Sotos syndrome [RCV005035447]|not provided [RCV005112880] Chr5:177209871 [GRCh38]
Chr5:176636872 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.1638G>C (p.Gln546His) single nucleotide variant Sotos syndrome [RCV005035450]|not provided [RCV005063305] Chr5:177210037 [GRCh38]
Chr5:176637038 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.2500G>A (p.Asp834Asn) single nucleotide variant Sotos syndrome [RCV005035466] Chr5:177210899 [GRCh38]
Chr5:176637900 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2608A>G (p.Arg870Gly) single nucleotide variant Sotos syndrome [RCV005035467] Chr5:177211007 [GRCh38]
Chr5:176638008 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3455A>G (p.Asn1152Ser) single nucleotide variant Sotos syndrome [RCV005035478] Chr5:177211854 [GRCh38]
Chr5:176638855 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4119G>T (p.Leu1373Phe) single nucleotide variant Sotos syndrome [RCV005035486] Chr5:177238434 [GRCh38]
Chr5:176665435 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.362C>T (p.Pro121Leu) single nucleotide variant Sotos syndrome [RCV005035433] Chr5:177135465 [GRCh38]
Chr5:176562466 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4801G>A (p.Glu1601Lys) single nucleotide variant Sotos syndrome [RCV005035495] Chr5:177256986 [GRCh38]
Chr5:176683987 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5521G>A (p.Ala1841Thr) single nucleotide variant Sotos syndrome [RCV005035499] Chr5:177273683 [GRCh38]
Chr5:176700684 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7585G>C (p.Ala2529Pro) single nucleotide variant Sotos syndrome [RCV005035518] Chr5:177294953 [GRCh38]
Chr5:176721954 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7885A>G (p.Lys2629Glu) single nucleotide variant Sotos syndrome [RCV005035521] Chr5:177295253 [GRCh38]
Chr5:176722254 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7925G>C (p.Gly2642Ala) single nucleotide variant Sotos syndrome [RCV005035522]|not provided [RCV005063307] Chr5:177295293 [GRCh38]
Chr5:176722294 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.179C>T (p.Ala60Val) single nucleotide variant Sotos syndrome [RCV005035426]|not provided [RCV005112878] Chr5:177135282 [GRCh38]
Chr5:176562283 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.344C>T (p.Ser115Phe) single nucleotide variant Sotos syndrome [RCV005035431] Chr5:177135447 [GRCh38]
Chr5:176562448 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.541GAG[1] (p.Glu182del) microsatellite Sotos syndrome [RCV005035440] Chr5:177135644..177135646 [GRCh38]
Chr5:176562645..176562647 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.864A>G (p.Thr288=) single nucleotide variant Sotos syndrome [RCV005035443] Chr5:177135967 [GRCh38]
Chr5:176562968 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1084C>T (p.Arg362Trp) single nucleotide variant Sotos syndrome [RCV005035445] Chr5:177204140 [GRCh38]
Chr5:176631141 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2060C>G (p.Ser687Cys) single nucleotide variant Sotos syndrome [RCV005035459] Chr5:177210459 [GRCh38]
Chr5:176637460 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3580_3582del (p.Asp1194del) deletion Sotos syndrome [RCV005035481]|not provided [RCV005112888] Chr5:177211979..177211981 [GRCh38]
Chr5:176638980..176638982 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3802C>T (p.Arg1268Trp) single nucleotide variant Sotos syndrome [RCV005035484]|not provided [RCV005112889] Chr5:177235826 [GRCh38]
Chr5:176662827 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.3932G>T (p.Arg1311Leu) single nucleotide variant Sotos syndrome [RCV005035485] Chr5:177238247 [GRCh38]
Chr5:176665248 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4424G>A (p.Arg1475Lys) single nucleotide variant Sotos syndrome [RCV005035490] Chr5:177246723 [GRCh38]
Chr5:176673724 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4570G>A (p.Gly1524Arg) single nucleotide variant Sotos syndrome [RCV005035494]|not provided [RCV005112892] Chr5:177248253 [GRCh38]
Chr5:176675254 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.6139G>T (p.Asp2047Tyr) single nucleotide variant Sotos syndrome [RCV005035503] Chr5:177283916 [GRCh38]
Chr5:176710917 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.394T>C (p.Cys132Arg) single nucleotide variant Sotos syndrome [RCV005035435] Chr5:177135497 [GRCh38]
Chr5:176562498 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.407dup (p.Pro136_Glu137insTer) duplication Sotos syndrome [RCV005035436] Chr5:177135506..177135507 [GRCh38]
Chr5:176562507..176562508 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1549C>G (p.Gln517Glu) single nucleotide variant Sotos syndrome [RCV005035448] Chr5:177209948 [GRCh38]
Chr5:176636949 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1660A>G (p.Ile554Val) single nucleotide variant Sotos syndrome [RCV005035452]|not provided [RCV005112882] Chr5:177210059 [GRCh38]
Chr5:176637060 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.1663G>A (p.Ala555Thr) single nucleotide variant Sotos syndrome [RCV005035453]|not provided [RCV005112883] Chr5:177210062 [GRCh38]
Chr5:176637063 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1709T>G (p.Phe570Cys) single nucleotide variant Sotos syndrome [RCV005035454] Chr5:177210108 [GRCh38]
Chr5:176637109 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1757A>G (p.Asn586Ser) single nucleotide variant Sotos syndrome [RCV005035455] Chr5:177210156 [GRCh38]
Chr5:176637157 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1970A>G (p.Glu657Gly) single nucleotide variant Sotos syndrome [RCV005035458] Chr5:177210369 [GRCh38]
Chr5:176637370 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3223G>C (p.Gly1075Arg) single nucleotide variant Sotos syndrome [RCV005035475] Chr5:177211622 [GRCh38]
Chr5:176638623 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3499C>T (p.Arg1167Cys) single nucleotide variant Sotos syndrome [RCV005035479]|not provided [RCV005112887] Chr5:177211898 [GRCh38]
Chr5:176638899 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.3710G>A (p.Cys1237Tyr) single nucleotide variant Sotos syndrome [RCV005035482] Chr5:177212109 [GRCh38]
Chr5:176639110 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3722G>T (p.Ser1241Ile) single nucleotide variant Sotos syndrome [RCV005035483] Chr5:177212121 [GRCh38]
Chr5:176639122 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4418G>A (p.Arg1473Gln) single nucleotide variant Sotos syndrome [RCV005035489] Chr5:177246717 [GRCh38]
Chr5:176673718 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5732_5733delinsAA (p.Cys1911Ter) indel Sotos syndrome [RCV005035501] Chr5:177280674..177280675 [GRCh38]
Chr5:176707675..176707676 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5782G>A (p.Gly1928Arg) single nucleotide variant Sotos syndrome [RCV005035502] Chr5:177280724 [GRCh38]
Chr5:176707725 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6697A>G (p.Ser2233Gly) single nucleotide variant Sotos syndrome [RCV005035508] Chr5:177294065 [GRCh38]
Chr5:176721066 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7300G>A (p.Ala2434Thr) single nucleotide variant Sotos syndrome [RCV005035514] Chr5:177294668 [GRCh38]
Chr5:176721669 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7373T>C (p.Leu2458Pro) single nucleotide variant Sotos syndrome [RCV005035516] Chr5:177294741 [GRCh38]
Chr5:176721742 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.487G>T (p.Asp163Tyr) single nucleotide variant Sotos syndrome [RCV005035438] Chr5:177135590 [GRCh38]
Chr5:176562591 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.339C>G (p.Cys113Trp) single nucleotide variant Sotos syndrome [RCV005035430] Chr5:177135442 [GRCh38]
Chr5:176562443 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1844G>C (p.Cys615Ser) single nucleotide variant Sotos syndrome [RCV005035457] Chr5:177210243 [GRCh38]
Chr5:176637244 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2063G>T (p.Arg688Met) single nucleotide variant Sotos syndrome [RCV005035460] Chr5:177210462 [GRCh38]
Chr5:176637463 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2398A>G (p.Met800Val) single nucleotide variant Sotos syndrome [RCV005035465]|not specified [RCV005241075] Chr5:177210797 [GRCh38]
Chr5:176637798 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2699C>G (p.Pro900Arg) single nucleotide variant Sotos syndrome [RCV005035469] Chr5:177211098 [GRCh38]
Chr5:176638099 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2745A>C (p.Lys915Asn) single nucleotide variant Sotos syndrome [RCV005035471] Chr5:177211144 [GRCh38]
Chr5:176638145 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2777G>A (p.Arg926Gln) single nucleotide variant Sotos syndrome [RCV005035472] Chr5:177211176 [GRCh38]
Chr5:176638177 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3220C>A (p.Arg1074Ser) single nucleotide variant Sotos syndrome [RCV005035474] Chr5:177211619 [GRCh38]
Chr5:176638620 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3271C>G (p.Leu1091Val) single nucleotide variant Sotos syndrome [RCV005035476] Chr5:177211670 [GRCh38]
Chr5:176638671 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4343C>A (p.Ser1448Tyr) single nucleotide variant Sotos syndrome [RCV005035487]|not provided [RCV005112890] Chr5:177244235 [GRCh38]
Chr5:176671236 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4346G>C (p.Cys1449Ser) single nucleotide variant Sotos syndrome [RCV005035488] Chr5:177244238 [GRCh38]
Chr5:176671239 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7942T>A (p.Ser2648Thr) single nucleotide variant Sotos syndrome [RCV005035523]|not provided [RCV005105246] Chr5:177295310 [GRCh38]
Chr5:176722311 [GRCh37]
Chr5:5q35.3		 benign|uncertain significance
NM_022455.5(NSD1):c.7949G>C (p.Trp2650Ser) single nucleotide variant Sotos syndrome [RCV005035525] Chr5:177295317 [GRCh38]
Chr5:176722318 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.599A>C (p.Glu200Ala) single nucleotide variant Sotos syndrome [RCV005035441] Chr5:177135702 [GRCh38]
Chr5:176562703 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.708_709del (p.Lys237_Asn238insTer) deletion Sotos syndrome [RCV005035442] Chr5:177135810..177135811 [GRCh38]
Chr5:176562811..176562812 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1649A>G (p.Glu550Gly) single nucleotide variant Sotos syndrome [RCV005035451] Chr5:177210048 [GRCh38]
Chr5:176637049 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2093C>G (p.Ala698Gly) single nucleotide variant Sotos syndrome [RCV005035461] Chr5:177210492 [GRCh38]
Chr5:176637493 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2302A>G (p.Ile768Val) single nucleotide variant Sotos syndrome [RCV005035462] Chr5:177210701 [GRCh38]
Chr5:176637702 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2311G>A (p.Gly771Arg) single nucleotide variant Sotos syndrome [RCV005035463] Chr5:177210710 [GRCh38]
Chr5:176637711 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2395G>C (p.Val799Leu) single nucleotide variant Sotos syndrome [RCV005035464]|not provided [RCV005112884] Chr5:177210794 [GRCh38]
Chr5:176637795 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.2636C>T (p.Ser879Phe) single nucleotide variant Sotos syndrome [RCV005035468] Chr5:177211035 [GRCh38]
Chr5:176638036 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3304G>C (p.Gly1102Arg) single nucleotide variant Sotos syndrome [RCV005035477] Chr5:177211703 [GRCh38]
Chr5:176638704 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4450A>G (p.Lys1484Glu) single nucleotide variant Sotos syndrome [RCV005035491] Chr5:177246749 [GRCh38]
Chr5:176673750 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4557A>G (p.Val1519=) single nucleotide variant Sotos syndrome [RCV005035493] Chr5:177248240 [GRCh38]
Chr5:176675241 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4853A>C (p.Glu1618Ala) single nucleotide variant Sotos syndrome [RCV005035497] Chr5:177257038 [GRCh38]
Chr5:176684039 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6259-6C>A single nucleotide variant Sotos syndrome [RCV005035504] Chr5:177291948 [GRCh38]
Chr5:176718949 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7720C>G (p.Pro2574Ala) single nucleotide variant Sotos syndrome [RCV005035520] Chr5:177295088 [GRCh38]
Chr5:176722089 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.323A>G (p.Gln108Arg) single nucleotide variant Sotos syndrome [RCV005035428] Chr5:177135426 [GRCh38]
Chr5:176562427 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1438G>T (p.Ala480Ser) single nucleotide variant Sotos syndrome [RCV005035446] Chr5:177209837 [GRCh38]
Chr5:176636838 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.359G>A (p.Gly120Asp) single nucleotide variant Sotos syndrome [RCV005035432] Chr5:177135462 [GRCh38]
Chr5:176562463 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5622+20G>C single nucleotide variant Sotos syndrome [RCV005035500] Chr5:177273804 [GRCh38]
Chr5:176700805 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7353A>T (p.Arg2451Ser) single nucleotide variant Inborn genetic diseases [RCV004954062] Chr5:177294721 [GRCh38]
Chr5:176721722 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7918G>A (p.Val2640Met) single nucleotide variant Inborn genetic diseases [RCV004954064] Chr5:177295286 [GRCh38]
Chr5:176722287 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5356_5360del (p.Lys1786fs) deletion Sotos syndrome [RCV004987259] Chr5:177269651..177269655 [GRCh38]
Chr5:176696652..176696656 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.53A>G (p.Asn18Ser) single nucleotide variant Sotos syndrome [RCV005043208]|not provided [RCV005112877] Chr5:177135156 [GRCh38]
Chr5:176562157 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.713A>T (p.Asn238Ile) single nucleotide variant Sotos syndrome [RCV005043212] Chr5:177135816 [GRCh38]
Chr5:176562817 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.730G>A (p.Val244Met) single nucleotide variant Sotos syndrome [RCV005043213] Chr5:177135833 [GRCh38]
Chr5:176562834 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1429A>G (p.Lys477Glu) single nucleotide variant Sotos syndrome [RCV005043219] Chr5:177209828 [GRCh38]
Chr5:176636829 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2023A>G (p.Met675Val) single nucleotide variant Sotos syndrome [RCV005043227] Chr5:177210422 [GRCh38]
Chr5:176637423 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4394T>C (p.Phe1465Ser) single nucleotide variant Sotos syndrome [RCV005043238]|not provided [RCV005112891] Chr5:177246693 [GRCh38]
Chr5:176673694 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.6268A>G (p.Ile2090Val) single nucleotide variant Sotos syndrome [RCV005043243] Chr5:177291963 [GRCh38]
Chr5:176718964 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7570G>A (p.Glu2524Lys) single nucleotide variant Sotos syndrome [RCV005043247] Chr5:177294938 [GRCh38]
Chr5:176721939 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.8066A>G (p.Lys2689Arg) single nucleotide variant Sotos syndrome [RCV005043253]|not provided [RCV005105247] Chr5:177295434 [GRCh38]
Chr5:176722435 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.4890C>A (p.Asn1630Lys) single nucleotide variant Inborn genetic diseases [RCV004954049] Chr5:177257075 [GRCh38]
Chr5:176684076 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7898G>A (p.Arg2633Gln) single nucleotide variant Inborn genetic diseases [RCV004954051]|not provided [RCV005107644] Chr5:177295266 [GRCh38]
Chr5:176722267 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.7706C>T (p.Pro2569Leu) single nucleotide variant Inborn genetic diseases [RCV004954052] Chr5:177295074 [GRCh38]
Chr5:176722075 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3343A>G (p.Lys1115Glu) single nucleotide variant Inborn genetic diseases [RCV004954057] Chr5:177211742 [GRCh38]
Chr5:176638743 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3743A>G (p.Glu1248Gly) single nucleotide variant Inborn genetic diseases [RCV004954058] Chr5:177212142 [GRCh38]
Chr5:176639143 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5401dup (p.Ser1801fs) duplication Sotos syndrome [RCV004987258] Chr5:177269698..177269699 [GRCh38]
Chr5:176696699..176696700 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3095A>G (p.Asp1032Gly) single nucleotide variant Inborn genetic diseases [RCV004954055] Chr5:177211494 [GRCh38]
Chr5:176638495 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7888G>A (p.Ala2630Thr) single nucleotide variant Inborn genetic diseases [RCV004954063] Chr5:177295256 [GRCh38]
Chr5:176722257 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.821_823del (p.Ile274del) deletion Sotos syndrome [RCV005043215] Chr5:177135922..177135924 [GRCh38]
Chr5:176562923..176562925 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1481G>C (p.Cys494Ser) single nucleotide variant Sotos syndrome [RCV005043220]|not provided [RCV005112881] Chr5:177209880 [GRCh38]
Chr5:176636881 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.1555G>A (p.Glu519Lys) single nucleotide variant Sotos syndrome [RCV005043222] Chr5:177209954 [GRCh38]
Chr5:176636955 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1883A>G (p.Asp628Gly) single nucleotide variant Sotos syndrome [RCV005043224] Chr5:177210282 [GRCh38]
Chr5:176637283 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3865G>A (p.Asp1289Asn) single nucleotide variant Sotos syndrome [RCV005043237] Chr5:177235889 [GRCh38]
Chr5:176662890 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6803C>T (p.Ala2268Val) single nucleotide variant Sotos syndrome [RCV005043245] Chr5:177294171 [GRCh38]
Chr5:176721172 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7904G>A (p.Gly2635Glu) single nucleotide variant Sotos syndrome [RCV005043251] Chr5:177295272 [GRCh38]
Chr5:176722273 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.266G>A (p.Gly89Glu) single nucleotide variant Sotos syndrome [RCV005043210] Chr5:177135369 [GRCh38]
Chr5:176562370 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1544A>G (p.His515Arg) single nucleotide variant Sotos syndrome [RCV005043221] Chr5:177209943 [GRCh38]
Chr5:176636944 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2437A>C (p.Lys813Gln) single nucleotide variant Sotos syndrome [RCV005043229] Chr5:177210836 [GRCh38]
Chr5:176637837 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7802G>A (p.Arg2601Lys) single nucleotide variant Sotos syndrome [RCV005043249] Chr5:177295170 [GRCh38]
Chr5:176722171 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7808_7809del (p.Leu2603fs) microsatellite Sotos syndrome [RCV005043250]|not provided [RCV005063306] Chr5:177295172..177295173 [GRCh38]
Chr5:176722173..176722174 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.337T>G (p.Cys113Gly) single nucleotide variant not provided [RCV004823738] Chr5:177135440 [GRCh38]
Chr5:176562441 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7496A>G (p.His2499Arg) single nucleotide variant Inborn genetic diseases [RCV004954047] Chr5:177294864 [GRCh38]
Chr5:176721865 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1302del (p.Lys435fs) deletion Inborn genetic diseases [RCV004954048] Chr5:177209699 [GRCh38]
Chr5:176636700 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6377A>G (p.Asp2126Gly) single nucleotide variant Inborn genetic diseases [RCV004954050] Chr5:177292072 [GRCh38]
Chr5:176719073 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4931A>G (p.His1644Arg) single nucleotide variant Inborn genetic diseases [RCV004954053] Chr5:177257116 [GRCh38]
Chr5:176684117 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4960T>C (p.Ser1654Pro) single nucleotide variant Inborn genetic diseases [RCV004954061] Chr5:177257145 [GRCh38]
Chr5:176684146 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4567C>T (p.Pro1523Ser) single nucleotide variant Inborn genetic diseases [RCV004954065] Chr5:177248250 [GRCh38]
Chr5:176675251 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3965G>A (p.Arg1322Gln) single nucleotide variant Inborn genetic diseases [RCV004954066] Chr5:177238280 [GRCh38]
Chr5:176665281 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7003C>T (p.Pro2335Ser) single nucleotide variant Inborn genetic diseases [RCV004954067]|not provided [RCV005107646] Chr5:177294371 [GRCh38]
Chr5:176721372 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.4782T>A (p.Phe1594Leu) single nucleotide variant Inborn genetic diseases [RCV004954069] Chr5:177256967 [GRCh38]
Chr5:176683968 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6045T>G (p.Tyr2015Ter) single nucleotide variant Inborn genetic diseases [RCV004954054] Chr5:177283822 [GRCh38]
Chr5:176710823 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1084C>G (p.Arg362Gly) single nucleotide variant Inborn genetic diseases [RCV004954060]|not provided [RCV005107645] Chr5:177204140 [GRCh38]
Chr5:176631141 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1951C>T (p.Pro651Ser) single nucleotide variant Inborn genetic diseases [RCV004954046]|not provided [RCV005107643] Chr5:177210350 [GRCh38]
Chr5:176637351 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7535C>A (p.Pro2512His) single nucleotide variant Inborn genetic diseases [RCV004954056] Chr5:177294903 [GRCh38]
Chr5:176721904 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3304G>A (p.Gly1102Ser) single nucleotide variant Inborn genetic diseases [RCV004954059] Chr5:177211703 [GRCh38]
Chr5:176638704 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7072_7104dup (p.Ala2368_Ser2369insAspProArgLeuAspLysSerIleGlyAlaAla) duplication not provided [RCV005001887] Chr5:177294439..177294440 [GRCh38]
Chr5:176721440..176721441 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4870C>A (p.Pro1624Thr) single nucleotide variant not provided [RCV004823768] Chr5:177257055 [GRCh38]
Chr5:176684056 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177414568)x3 copy number gain not provided [RCV004819302] Chr5:175570678..177414568 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_022455.5(NSD1):c.2422G>A (p.Glu808Lys) single nucleotide variant Sotos syndrome [RCV005043228]|not provided [RCV005112885] Chr5:177210821 [GRCh38]
Chr5:176637822 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2479A>G (p.Ile827Val) single nucleotide variant Sotos syndrome [RCV005043230] Chr5:177210878 [GRCh38]
Chr5:176637879 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3434A>G (p.Asn1145Ser) single nucleotide variant Sotos syndrome [RCV005043234] Chr5:177211833 [GRCh38]
Chr5:176638834 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4882A>G (p.Met1628Val) single nucleotide variant Sotos syndrome [RCV005043240]|not provided [RCV005112893] Chr5:177257067 [GRCh38]
Chr5:176684068 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.7933_7971del (p.Ser2648_Gln2660del) deletion Sotos syndrome [RCV005043252] Chr5:177295294..177295332 [GRCh38]
Chr5:176722295..176722333 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1661T>C (p.Ile554Thr) single nucleotide variant Sotos syndrome [RCV005043223] Chr5:177210060 [GRCh38]
Chr5:176637061 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1993A>G (p.Ile665Val) single nucleotide variant Sotos syndrome [RCV005043225] Chr5:177210392 [GRCh38]
Chr5:176637393 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4487C>G (p.Pro1496Arg) single nucleotide variant Sotos syndrome [RCV005043239] Chr5:177246786 [GRCh38]
Chr5:176673787 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5038A>G (p.Lys1680Glu) single nucleotide variant Sotos syndrome [RCV005043241]|not provided [RCV005112894] Chr5:177260060 [GRCh38]
Chr5:176687061 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.7023C>T (p.Ser2341=) single nucleotide variant Sotos syndrome [RCV005043246] Chr5:177294391 [GRCh38]
Chr5:176721392 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.577T>C (p.Cys193Arg) single nucleotide variant Sotos syndrome [RCV005043211] Chr5:177135680 [GRCh38]
Chr5:176562681 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.787A>G (p.Thr263Ala) single nucleotide variant Sotos syndrome [RCV005043214] Chr5:177135890 [GRCh38]
Chr5:176562891 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1319G>A (p.Arg440Gln) single nucleotide variant Sotos syndrome [RCV005043217] Chr5:177209718 [GRCh38]
Chr5:176636719 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1325G>T (p.Cys442Phe) single nucleotide variant Sotos syndrome [RCV005043218] Chr5:177209724 [GRCh38]
Chr5:176636725 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2699C>T (p.Pro900Leu) single nucleotide variant Sotos syndrome [RCV005043231] Chr5:177211098 [GRCh38]
Chr5:176638099 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3549_3550insTAT (p.Ser1183_Glu1184insTyr) insertion Sotos syndrome [RCV005043236] Chr5:177211947..177211948 [GRCh38]
Chr5:176638948..176638949 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7712G>A (p.Ser2571Asn) single nucleotide variant Sotos syndrome [RCV005043248] Chr5:177295080 [GRCh38]
Chr5:176722081 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.74del (p.Pro25fs) deletion Sotos syndrome [RCV005043209] Chr5:177135174 [GRCh38]
Chr5:176562175 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.962A>G (p.Tyr321Cys) single nucleotide variant not provided [RCV005004044] Chr5:177191918 [GRCh38]
Chr5:176618919 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2846C>T (p.Pro949Leu) single nucleotide variant Inborn genetic diseases [RCV005377693]|Sotos syndrome [RCV005043232] Chr5:177211245 [GRCh38]
Chr5:176638246 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.3373A>G (p.Lys1125Glu) single nucleotide variant Sotos syndrome [RCV005043233] Chr5:177211772 [GRCh38]
Chr5:176638773 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3476G>A (p.Arg1159Gln) single nucleotide variant Sotos syndrome [RCV005043235] Chr5:177211875 [GRCh38]
Chr5:176638876 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6766G>T (p.Ala2256Ser) single nucleotide variant Sotos syndrome [RCV005043244] Chr5:177294134 [GRCh38]
Chr5:176721135 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2400G>A (p.Met800Ile) single nucleotide variant not provided [RCV005147408] Chr5:177210799 [GRCh38]
Chr5:176637800 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2708C>G (p.Pro903Arg) single nucleotide variant not provided [RCV005170247] Chr5:177211107 [GRCh38]
Chr5:176638108 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2894C>G (p.Ser965Ter) single nucleotide variant not provided [RCV005227229] Chr5:177211293 [GRCh38]
Chr5:176638294 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2848G>A (p.Val950Ile) single nucleotide variant not provided [RCV005147929] Chr5:177211247 [GRCh38]
Chr5:176638248 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.990A>G (p.Lys330=) single nucleotide variant not provided [RCV005105706] Chr5:177191946 [GRCh38]
Chr5:176618947 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.671C>T (p.Ser224Leu) single nucleotide variant not provided [RCV005147950] Chr5:177135774 [GRCh38]
Chr5:176562775 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5126G>A (p.Trp1709Ter) single nucleotide variant Sotos syndrome [RCV005255811]|not provided [RCV005054590] Chr5:177260148 [GRCh38]
Chr5:176687149 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4927T>C (p.Cys1643Arg) single nucleotide variant not provided [RCV005066324] Chr5:177257112 [GRCh38]
Chr5:176684113 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5993T>C (p.Met1998Thr) single nucleotide variant not provided [RCV005145530] Chr5:177282565 [GRCh38]
Chr5:176709566 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5622+17G>C single nucleotide variant not provided [RCV005170888] Chr5:177273801 [GRCh38]
Chr5:176700802 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6058A>C (p.Asn2020His) single nucleotide variant Sotos syndrome [RCV005054990] Chr5:177283835 [GRCh38]
Chr5:176710836 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.1946T>C (p.Leu649Pro) single nucleotide variant not provided [RCV005173246] Chr5:177210345 [GRCh38]
Chr5:176637346 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.743A>T (p.Asn248Ile) single nucleotide variant not provided [RCV005171259] Chr5:177135846 [GRCh38]
Chr5:176562847 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5444dup (p.Tyr1815Ter) duplication not provided [RCV005173508] Chr5:177269741..177269742 [GRCh38]
Chr5:176696742..176696743 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7036A>T (p.Arg2346Trp) single nucleotide variant not provided [RCV005174109] Chr5:177294404 [GRCh38]
Chr5:176721405 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2704G>A (p.Glu902Lys) single nucleotide variant not specified [RCV005088307] Chr5:177211103 [GRCh38]
Chr5:176638104 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5509+4del deletion not provided [RCV005088745] Chr5:177269810 [GRCh38]
Chr5:176696811 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4498-9C>T single nucleotide variant not provided [RCV005147828]|not specified [RCV005407392] Chr5:177248172 [GRCh38]
Chr5:176675173 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2792A>C (p.Gln931Pro) single nucleotide variant not provided [RCV005088029] Chr5:177211191 [GRCh38]
Chr5:176638192 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1070A>G (p.Asn357Ser) single nucleotide variant not provided [RCV005105462] Chr5:177204126 [GRCh38]
Chr5:176631127 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7719C>T (p.Ser2573=) single nucleotide variant not provided [RCV005088118] Chr5:177295087 [GRCh38]
Chr5:176722088 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1236+15dup duplication not provided [RCV005105580] Chr5:177204302..177204303 [GRCh38]
Chr5:176631303..176631304 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.86A>G (p.Asp29Gly) single nucleotide variant not provided [RCV005172016] Chr5:177135189 [GRCh38]
Chr5:176562190 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2586C>A (p.Ser862=) single nucleotide variant not provided [RCV005106119] Chr5:177210985 [GRCh38]
Chr5:176637986 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5510-16C>T single nucleotide variant not provided [RCV005176120] Chr5:177273656 [GRCh38]
Chr5:176700657 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2435T>A (p.Leu812Ter) single nucleotide variant not provided [RCV005106182] Chr5:177210834 [GRCh38]
Chr5:176637835 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3921+1G>A single nucleotide variant not provided [RCV005060156] Chr5:177235946 [GRCh38]
Chr5:176662947 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4845C>A (p.Tyr1615Ter) single nucleotide variant not provided [RCV005106012] Chr5:177257030 [GRCh38]
Chr5:176684031 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5509+6T>C single nucleotide variant not provided [RCV005088746] Chr5:177269813 [GRCh38]
Chr5:176696814 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2138T>G (p.Met713Arg) single nucleotide variant not provided [RCV005145105] Chr5:177210537 [GRCh38]
Chr5:176637538 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5718G>A (p.Gly1906=) single nucleotide variant not provided [RCV005175655] Chr5:177280660 [GRCh38]
Chr5:176707661 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7686G>A (p.Gly2562=) single nucleotide variant not provided [RCV005086308] Chr5:177295054 [GRCh38]
Chr5:176722055 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2456C>A (p.Thr819Asn) single nucleotide variant not provided [RCV005085644] Chr5:177210855 [GRCh38]
Chr5:176637856 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3721A>G (p.Ser1241Gly) single nucleotide variant not provided [RCV005087206] Chr5:177212120 [GRCh38]
Chr5:176639121 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1612A>G (p.Ile538Val) single nucleotide variant not provided [RCV005172100] Chr5:177210011 [GRCh38]
Chr5:176637012 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7790G>A (p.Gly2597Glu) single nucleotide variant not provided [RCV005172910] Chr5:177295158 [GRCh38]
Chr5:176722159 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.10A>C (p.Thr4Pro) single nucleotide variant not provided [RCV005227207] Chr5:177135113 [GRCh38]
Chr5:176562114 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3042C>A (p.Asp1014Glu) single nucleotide variant not provided [RCV005170961] Chr5:177211441 [GRCh38]
Chr5:176638442 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4967-7G>C single nucleotide variant not provided [RCV005195610] Chr5:177259982 [GRCh38]
Chr5:176686983 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6014G>C (p.Arg2005Pro) single nucleotide variant Sotos syndrome [RCV005054022] Chr5:177283791 [GRCh38]
Chr5:176710792 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1724A>G (p.Lys575Arg) single nucleotide variant not provided [RCV005170543] Chr5:177210123 [GRCh38]
Chr5:176637124 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4381A>G (p.Thr1461Ala) single nucleotide variant not provided [RCV005064096] Chr5:177246680 [GRCh38]
Chr5:176673681 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3902T>C (p.Val1301Ala) single nucleotide variant not provided [RCV005066037] Chr5:177235926 [GRCh38]
Chr5:176662927 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7768C>T (p.Pro2590Ser) single nucleotide variant not provided [RCV005145354] Chr5:177295136 [GRCh38]
Chr5:176722137 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2157A>G (p.Ala719=) single nucleotide variant not provided [RCV005066887] Chr5:177210556 [GRCh38]
Chr5:176637557 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3757A>T (p.Ile1253Phe) single nucleotide variant not provided [RCV005105877] Chr5:177212156 [GRCh38]
Chr5:176639157 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6009+15A>G single nucleotide variant not provided [RCV005105888] Chr5:177282596 [GRCh38]
Chr5:176709597 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2665C>T (p.Leu889Phe) single nucleotide variant not provided [RCV005145384] Chr5:177211064 [GRCh38]
Chr5:176638065 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5781C>T (p.Ala1927=) single nucleotide variant not provided [RCV005086117] Chr5:177280723 [GRCh38]
Chr5:176707724 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4330_4354dup (p.Ser1452delinsTrpHisAsnTer) duplication not provided [RCV005105497] Chr5:177244219..177244220 [GRCh38]
Chr5:176671220..176671221 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2362del (p.Arg788fs) deletion Sotos syndrome [RCV005229589] Chr5:177210760 [GRCh38]
Chr5:176637761 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1620G>T (p.Gly540=) single nucleotide variant not provided [RCV005066298] Chr5:177210019 [GRCh38]
Chr5:176637020 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3167_3168del (p.Leu1056fs) deletion not provided [RCV005145480] Chr5:177211566..177211567 [GRCh38]
Chr5:176638567..176638568 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.317G>A (p.Arg106Lys) single nucleotide variant not provided [RCV005088197] Chr5:177135420 [GRCh38]
Chr5:176562421 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1947G>A (p.Leu649=) single nucleotide variant not provided [RCV005146318] Chr5:177210346 [GRCh38]
Chr5:176637347 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.76G>A (p.Glu26Lys) single nucleotide variant not provided [RCV005063976] Chr5:177135179 [GRCh38]
Chr5:176562180 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7778C>G (p.Ala2593Gly) single nucleotide variant not provided [RCV005060040] Chr5:177295146 [GRCh38]
Chr5:176722147 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.426A>G (p.Val142=) single nucleotide variant not provided [RCV005173757] Chr5:177135529 [GRCh38]
Chr5:176562530 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6599dup (p.Ser2201fs) duplication not provided [RCV005144955] Chr5:177293966..177293967 [GRCh38]
Chr5:176720967..176720968 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5390_5509+564del deletion not provided [RCV005173827] Chr5:177269686..177270369 [GRCh38]
Chr5:176696687..176697370 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1476G>C (p.Lys492Asn) single nucleotide variant not provided [RCV005145140] Chr5:177209875 [GRCh38]
Chr5:176636876 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7259C>G (p.Pro2420Arg) single nucleotide variant not provided [RCV005227361] Chr5:177294627 [GRCh38]
Chr5:176721628 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5745GCT[3] (p.Leu1917_Tyr1918insLeu) microsatellite not provided [RCV005145890] Chr5:177280685..177280686 [GRCh38]
Chr5:176707686..176707687 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3776A>G (p.Gln1259Arg) single nucleotide variant not provided [RCV005086302] Chr5:177212175 [GRCh38]
Chr5:176639176 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7731G>A (p.Val2577=) single nucleotide variant not provided [RCV005065724] Chr5:177295099 [GRCh38]
Chr5:176722100 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3993C>T (p.Asp1331=) single nucleotide variant not provided [RCV005084709] Chr5:177238308 [GRCh38]
Chr5:176665309 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4192+5G>C single nucleotide variant not provided [RCV005195594] Chr5:177238512 [GRCh38]
Chr5:176665513 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7882G>C (p.Gly2628Arg) single nucleotide variant not provided [RCV005174727] Chr5:177295250 [GRCh38]
Chr5:176722251 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5846C>T (p.Thr1949Ile) single nucleotide variant not provided [RCV005171024] Chr5:177280788 [GRCh38]
Chr5:176707789 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2068G>A (p.Ala690Thr) single nucleotide variant not provided [RCV005171001] Chr5:177210467 [GRCh38]
Chr5:176637468 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1774G>C (p.Gly592Arg) single nucleotide variant not provided [RCV005173383] Chr5:177210173 [GRCh38]
Chr5:176637174 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5907_5908insAC (p.Glu1970fs) insertion not provided [RCV005170858] Chr5:177282479..177282480 [GRCh38]
Chr5:176709480..176709481 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1619G>A (p.Gly540Glu) single nucleotide variant not provided [RCV005088022] Chr5:177210018 [GRCh38]
Chr5:176637019 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3119A>C (p.Lys1040Thr) single nucleotide variant not provided [RCV005150508] Chr5:177211518 [GRCh38]
Chr5:176638519 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.3780T>C (p.Ala1260=) single nucleotide variant not provided [RCV005201213] Chr5:177212179 [GRCh38]
Chr5:176639180 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6265C>A (p.Pro2089Thr) single nucleotide variant not provided [RCV005132608] Chr5:177291960 [GRCh38]
Chr5:176718961 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3932G>A (p.Arg1311His) single nucleotide variant not provided [RCV005191172] Chr5:177238247 [GRCh38]
Chr5:176665248 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2240C>A (p.Thr747Lys) single nucleotide variant not provided [RCV005179116] Chr5:177210639 [GRCh38]
Chr5:176637640 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.414C>T (p.Leu138=) single nucleotide variant not provided [RCV005074217] Chr5:177135517 [GRCh38]
Chr5:176562518 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1132del (p.Val378fs) deletion not provided [RCV005129588] Chr5:177204186 [GRCh38]
Chr5:176631187 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4379-20C>G single nucleotide variant not provided [RCV005185683] Chr5:177246658 [GRCh38]
Chr5:176673659 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2088A>G (p.Val696=) single nucleotide variant not provided [RCV005076777] Chr5:177210487 [GRCh38]
Chr5:176637488 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4553G>A (p.Gly1518Asp) single nucleotide variant not provided [RCV005207910] Chr5:177248236 [GRCh38]
Chr5:176675237 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6699C>T (p.Ser2233=) single nucleotide variant not provided [RCV005206885] Chr5:177294067 [GRCh38]
Chr5:176721068 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.236C>T (p.Ala79Val) single nucleotide variant not specified [RCV005236985] Chr5:177135339 [GRCh38]
Chr5:176562340 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2331A>G (p.Leu777=) single nucleotide variant not provided [RCV005181419] Chr5:177210730 [GRCh38]
Chr5:176637731 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3006G>A (p.Lys1002=) single nucleotide variant not provided [RCV005183773] Chr5:177211405 [GRCh38]
Chr5:176638406 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.292C>A (p.Gln98Lys) single nucleotide variant not provided [RCV005150071] Chr5:177135395 [GRCh38]
Chr5:176562396 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2768A>G (p.Lys923Arg) single nucleotide variant not provided [RCV005111679] Chr5:177211167 [GRCh38]
Chr5:176638168 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.927+20A>C single nucleotide variant not provided [RCV005129030] Chr5:177136050 [GRCh38]
Chr5:176563051 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5303+19A>G single nucleotide variant not provided [RCV005076256] Chr5:177267737 [GRCh38]
Chr5:176694738 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4641+11G>A single nucleotide variant not provided [RCV005160999] Chr5:177248335 [GRCh38]
Chr5:176675336 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1124G>C (p.Arg375Thr) single nucleotide variant not provided [RCV005139500] Chr5:177204180 [GRCh38]
Chr5:176631181 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3629C>T (p.Ser1210Leu) single nucleotide variant not provided [RCV005114151] Chr5:177212028 [GRCh38]
Chr5:176639029 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6974C>T (p.Pro2325Leu) single nucleotide variant not provided [RCV005114154] Chr5:177294342 [GRCh38]
Chr5:176721343 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7816G>A (p.Ala2606Thr) single nucleotide variant not provided [RCV005114156] Chr5:177295184 [GRCh38]
Chr5:176722185 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7990T>G (p.Ser2664Ala) single nucleotide variant not provided [RCV005114157] Chr5:177295358 [GRCh38]
Chr5:176722359 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3068G>T (p.Arg1023Leu) single nucleotide variant not provided [RCV005188070] Chr5:177211467 [GRCh38]
Chr5:176638468 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7290G>T (p.Gln2430His) single nucleotide variant not provided [RCV005191473]|not specified [RCV005407409] Chr5:177294658 [GRCh38]
Chr5:176721659 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.7445A>C (p.Lys2482Thr) single nucleotide variant not provided [RCV005153222] Chr5:177294813 [GRCh38]
Chr5:176721814 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7727T>C (p.Leu2576Pro) single nucleotide variant not provided [RCV005076458] Chr5:177295095 [GRCh38]
Chr5:176722096 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6786G>T (p.Leu2262=) single nucleotide variant not provided [RCV005186491] Chr5:177294154 [GRCh38]
Chr5:176721155 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3594G>T (p.Glu1198Asp) single nucleotide variant not provided [RCV005190202] Chr5:177211993 [GRCh38]
Chr5:176638994 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2633A>C (p.Asp878Ala) single nucleotide variant not provided [RCV005139768] Chr5:177211032 [GRCh38]
Chr5:176638033 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4676_4677dup (p.Ala1560fs) duplication not provided [RCV005151285] Chr5:177251762..177251763 [GRCh38]
Chr5:176678763..176678764 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2376C>G (p.Cys792Trp) single nucleotide variant not provided [RCV005179801] Chr5:177210775 [GRCh38]
Chr5:176637776 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.3921+13A>G single nucleotide variant not provided [RCV005074079] Chr5:177235958 [GRCh38]
Chr5:176662959 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.927+17A>G single nucleotide variant not provided [RCV005188571] Chr5:177136047 [GRCh38]
Chr5:176563048 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5823T>A (p.Tyr1941Ter) single nucleotide variant Sotos syndrome [RCV005232566] Chr5:177280765 [GRCh38]
Chr5:176707766 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3492_3493insGTTAA (p.Gln1165fs) insertion not provided [RCV005113098] Chr5:177211891..177211892 [GRCh38]
Chr5:176638892..176638893 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6275C>T (p.Thr2092Met) single nucleotide variant not provided [RCV005182127] Chr5:177291970 [GRCh38]
Chr5:176718971 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3292A>G (p.Thr1098Ala) single nucleotide variant not provided [RCV005181219] Chr5:177211691 [GRCh38]
Chr5:176638692 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.988A>G (p.Lys330Glu) single nucleotide variant not provided [RCV005152794] Chr5:177191944 [GRCh38]
Chr5:176618945 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3303T>A (p.Asp1101Glu) single nucleotide variant not provided [RCV005181287] Chr5:177211702 [GRCh38]
Chr5:176638703 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2522A>G (p.Asn841Ser) single nucleotide variant not provided [RCV005194257] Chr5:177210921 [GRCh38]
Chr5:176637922 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7279G>A (p.Ala2427Thr) single nucleotide variant Inborn genetic diseases [RCV005379710]|not provided [RCV005108882] Chr5:177294647 [GRCh38]
Chr5:176721648 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.2250T>C (p.Ala750=) single nucleotide variant not provided [RCV005179097] Chr5:177210649 [GRCh38]
Chr5:176637650 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6609T>C (p.Thr2203=) single nucleotide variant not provided [RCV005181395] Chr5:177293977 [GRCh38]
Chr5:176720978 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5087_5088del (p.Arg1696fs) deletion not provided [RCV005133215] Chr5:177260109..177260110 [GRCh38]
Chr5:176687110..176687111 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2363G>T (p.Arg788Leu) single nucleotide variant not provided [RCV005079632] Chr5:177210762 [GRCh38]
Chr5:176637763 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.979A>C (p.Ile327Leu) single nucleotide variant not provided [RCV005250814] Chr5:177191935 [GRCh38]
Chr5:176618936 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5776C>G (p.Pro1926Ala) single nucleotide variant not provided [RCV005071410] Chr5:177280718 [GRCh38]
Chr5:176707719 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6332G>A (p.Gly2111Asp) single nucleotide variant not provided [RCV005111120] Chr5:177292027 [GRCh38]
Chr5:176719028 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.887C>T (p.Pro296Leu) single nucleotide variant not provided [RCV005165339] Chr5:177135990 [GRCh38]
Chr5:176562991 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7780G>T (p.Ala2594Ser) single nucleotide variant not provided [RCV005178042] Chr5:177295148 [GRCh38]
Chr5:176722149 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6706C>T (p.Leu2236=) single nucleotide variant not provided [RCV005108275] Chr5:177294074 [GRCh38]
Chr5:176721075 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7754G>T (p.Gly2585Val) single nucleotide variant not provided [RCV005181799] Chr5:177295122 [GRCh38]
Chr5:176722123 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3084C>T (p.Ser1028=) single nucleotide variant not provided [RCV005075322] Chr5:177211483 [GRCh38]
Chr5:176638484 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4440G>A (p.Lys1480=) single nucleotide variant not provided [RCV005078416] Chr5:177246739 [GRCh38]
Chr5:176673740 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.948T>A (p.Ser316=) single nucleotide variant not provided [RCV005188909] Chr5:177191904 [GRCh38]
Chr5:176618905 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1804T>C (p.Cys602Arg) single nucleotide variant not provided [RCV005120165] Chr5:177210203 [GRCh38]
Chr5:176637204 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5892+16A>T single nucleotide variant not provided [RCV005081106] Chr5:177280850 [GRCh38]
Chr5:176707851 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2927C>T (p.Ala976Val) single nucleotide variant not provided [RCV005192284] Chr5:177211326 [GRCh38]
Chr5:176638327 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4321C>G (p.Leu1441Val) single nucleotide variant not provided [RCV005199096] Chr5:177244213 [GRCh38]
Chr5:176671214 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3569T>A (p.Leu1190Ter) single nucleotide variant not provided [RCV005111368] Chr5:177211968 [GRCh38]
Chr5:176638969 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.691C>T (p.Pro231Ser) single nucleotide variant not provided [RCV005184074] Chr5:177135794 [GRCh38]
Chr5:176562795 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4329T>C (p.Asn1443=) single nucleotide variant not provided [RCV005138229] Chr5:177244221 [GRCh38]
Chr5:176671222 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4848T>G (p.His1616Gln) single nucleotide variant not provided [RCV005195038] Chr5:177257033 [GRCh38]
Chr5:176684034 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5020T>G (p.Cys1674Gly) single nucleotide variant not provided [RCV005195039] Chr5:177260042 [GRCh38]
Chr5:176687043 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6436T>A (p.Cys2146Ser) single nucleotide variant not provided [RCV005195041] Chr5:177292131 [GRCh38]
Chr5:176719132 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6455G>C (p.Arg2152Pro) single nucleotide variant not provided [RCV005195042] Chr5:177292150 [GRCh38]
Chr5:176719151 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6524G>C (p.Cys2175Ser) single nucleotide variant not provided [RCV005195043] Chr5:177293892 [GRCh38]
Chr5:176720893 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5520A>T (p.Glu1840Asp) single nucleotide variant not provided [RCV005177337] Chr5:177273682 [GRCh38]
Chr5:176700683 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6427C>T (p.His2143Tyr) single nucleotide variant not provided [RCV005200542] Chr5:177292122 [GRCh38]
Chr5:176719123 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7832C>T (p.Pro2611Leu) single nucleotide variant not provided [RCV005151311] Chr5:177295200 [GRCh38]
Chr5:176722201 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1844G>A (p.Cys615Tyr) single nucleotide variant not provided [RCV005125794] Chr5:177210243 [GRCh38]
Chr5:176637244 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.184G>A (p.Gly62Arg) single nucleotide variant not provided [RCV005153459] Chr5:177135287 [GRCh38]
Chr5:176562288 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.364A>G (p.Thr122Ala) single nucleotide variant not provided [RCV005186397] Chr5:177135467 [GRCh38]
Chr5:176562468 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.693T>A (p.Pro231=) single nucleotide variant not provided [RCV005118494] Chr5:177135796 [GRCh38]
Chr5:176562797 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4455dup (p.Val1486fs) duplication not provided [RCV005133534] Chr5:177246748..177246749 [GRCh38]
Chr5:176673749..176673750 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4498-10dup duplication not provided [RCV005124497] Chr5:177248165..177248166 [GRCh38]
Chr5:176675166..176675167 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4497+17G>C single nucleotide variant not provided [RCV005199308] Chr5:177246813 [GRCh38]
Chr5:176673814 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1969G>A (p.Glu657Lys) single nucleotide variant not provided [RCV005179899] Chr5:177210368 [GRCh38]
Chr5:176637369 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2135T>G (p.Leu712Ter) single nucleotide variant not provided [RCV005207342] Chr5:177210534 [GRCh38]
Chr5:176637535 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5079T>C (p.Phe1693=) single nucleotide variant not provided [RCV005187838] Chr5:177260101 [GRCh38]
Chr5:176687102 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2832T>G (p.Cys944Trp) single nucleotide variant Congenital diaphragamitc hernia [RCV005241279] Chr5:177211231 [GRCh38]
Chr5:176638232 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2949T>C (p.Gly983=) single nucleotide variant not provided [RCV005126767] Chr5:177211348 [GRCh38]
Chr5:176638349 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2186A>C (p.Asn729Thr) single nucleotide variant not provided [RCV005200898] Chr5:177210585 [GRCh38]
Chr5:176637586 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.5853G>A (p.Gln1951=) single nucleotide variant not provided [RCV005184213] Chr5:177280795 [GRCh38]
Chr5:176707796 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2863G>T (p.Val955Phe) single nucleotide variant not provided [RCV005155608] Chr5:177211262 [GRCh38]
Chr5:176638263 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3797-18T>C single nucleotide variant not provided [RCV005184264] Chr5:177235803 [GRCh38]
Chr5:176662804 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7779C>A (p.Ala2593=) single nucleotide variant not provided [RCV005186525] Chr5:177295147 [GRCh38]
Chr5:176722148 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3107C>T (p.Ala1036Val) single nucleotide variant not provided [RCV005114149] Chr5:177211506 [GRCh38]
Chr5:176638507 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.810A>G (p.Gln270=) single nucleotide variant not provided [RCV005185581] Chr5:177135913 [GRCh38]
Chr5:176562914 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.666C>T (p.Val222=) single nucleotide variant not provided [RCV005189713] Chr5:177135769 [GRCh38]
Chr5:176562770 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2368A>G (p.Ile790Val) single nucleotide variant not provided [RCV005161988] Chr5:177210767 [GRCh38]
Chr5:176637768 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7823C>T (p.Ala2608Val) single nucleotide variant not provided [RCV005136818] Chr5:177295191 [GRCh38]
Chr5:176722192 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4290C>A (p.Gly1430=) single nucleotide variant not provided [RCV005071609] Chr5:177239853 [GRCh38]
Chr5:176666854 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.455A>C (p.His152Pro) single nucleotide variant not provided [RCV005165859] Chr5:177135558 [GRCh38]
Chr5:176562559 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1041T>A (p.Ile347=) single nucleotide variant not provided [RCV005165877] Chr5:177191997 [GRCh38]
Chr5:176618998 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7940_7943del (p.Gln2647fs) deletion not provided [RCV005129565] Chr5:177295307..177295310 [GRCh38]
Chr5:176722308..176722311 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3483G>A (p.Gln1161=) single nucleotide variant not provided [RCV005160895] Chr5:177211882 [GRCh38]
Chr5:176638883 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.150A>G (p.Leu50=) single nucleotide variant not provided [RCV005192557] Chr5:177135253 [GRCh38]
Chr5:176562254 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1129del (p.Trp377fs) deletion not provided [RCV005168178] Chr5:177204185 [GRCh38]
Chr5:176631186 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2081C>T (p.Thr694Ile) single nucleotide variant not provided [RCV005167948] Chr5:177210480 [GRCh38]
Chr5:176637481 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6923C>G (p.Ser2308Cys) single nucleotide variant not provided [RCV005168027] Chr5:177294291 [GRCh38]
Chr5:176721292 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.7843AAG[1] (p.Lys2616del) microsatellite not provided [RCV005250875] Chr5:177295211..177295213 [GRCh38]
Chr5:176722212..176722214 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6870C>G (p.Pro2290=) single nucleotide variant not provided [RCV005148826] Chr5:177294238 [GRCh38]
Chr5:176721239 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.36T>C (p.Cys12=) single nucleotide variant not provided [RCV005077299] Chr5:177135139 [GRCh38]
Chr5:176562140 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4918del (p.Cys1640fs) deletion not provided [RCV005166087] Chr5:177257103 [GRCh38]
Chr5:176684104 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5769A>T (p.Thr1923=) single nucleotide variant not specified [RCV005237213] Chr5:177280711 [GRCh38]
Chr5:176707712 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6499T>C (p.Cys2167Arg) single nucleotide variant not provided [RCV005233770] Chr5:177293867 [GRCh38]
Chr5:176720868 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.927+16_927+51del deletion not provided [RCV005110527] Chr5:177136045..177136080 [GRCh38]
Chr5:176563046..176563081 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1863C>T (p.Leu621=) single nucleotide variant not provided [RCV005206601] Chr5:177210262 [GRCh38]
Chr5:176637263 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.634G>C (p.Asp212His) single nucleotide variant Inborn genetic diseases [RCV005379808]|not provided [RCV005187706] Chr5:177135737 [GRCh38]
Chr5:176562738 [GRCh37]
Chr5:5q35.3		 benign|likely benign
NM_022455.5(NSD1):c.2950G>A (p.Asp984Asn) single nucleotide variant not provided [RCV005143586] Chr5:177211349 [GRCh38]
Chr5:176638350 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4412G>A (p.Arg1471Gln) single nucleotide variant not specified [RCV005238485] Chr5:177246711 [GRCh38]
Chr5:176673712 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5918G>A (p.Gly1973Asp) single nucleotide variant Sotos syndrome [RCV005238359] Chr5:177282490 [GRCh38]
Chr5:176709491 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.1004C>A (p.Pro335Gln) single nucleotide variant not provided [RCV005245215] Chr5:177191960 [GRCh38]
Chr5:176618961 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3618T>C (p.His1206=) single nucleotide variant not provided [RCV005110665] Chr5:177212017 [GRCh38]
Chr5:176639018 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1236+10G>A single nucleotide variant not provided [RCV005153329] Chr5:177204302 [GRCh38]
Chr5:176631303 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5623-5T>A single nucleotide variant not provided [RCV005081854] Chr5:177280560 [GRCh38]
Chr5:176707561 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1504A>G (p.Ser502Gly) single nucleotide variant not provided [RCV005151313] Chr5:177209903 [GRCh38]
Chr5:176636904 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2926G>A (p.Ala976Thr) single nucleotide variant not provided [RCV005151384] Chr5:177211325 [GRCh38]
Chr5:176638326 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.3345_3348del (p.Lys1115fs) deletion Sotos syndrome [RCV005234271] Chr5:177211742..177211745 [GRCh38]
Chr5:176638743..176638746 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7023C>A (p.Ser2341=) single nucleotide variant not provided [RCV005198443] Chr5:177294391 [GRCh38]
Chr5:176721392 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6621C>T (p.Pro2207=) single nucleotide variant not provided [RCV005115318] Chr5:177293989 [GRCh38]
Chr5:176720990 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5493T>C (p.Asp1831=) single nucleotide variant not provided [RCV005141857] Chr5:177269791 [GRCh38]
Chr5:176696792 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3109C>G (p.Gln1037Glu) single nucleotide variant not provided [RCV005141888] Chr5:177211508 [GRCh38]
Chr5:176638509 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.905C>G (p.Ser302Cys) single nucleotide variant not provided [RCV005168662] Chr5:177136008 [GRCh38]
Chr5:176563009 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7844A>G (p.Lys2615Arg) single nucleotide variant not provided [RCV005182265] Chr5:177295212 [GRCh38]
Chr5:176722213 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5391C>A (p.Leu1797=) single nucleotide variant not provided [RCV005073183] Chr5:177269689 [GRCh38]
Chr5:176696690 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1267G>A (p.Ala423Thr) single nucleotide variant not provided [RCV005121578] Chr5:177209666 [GRCh38]
Chr5:176636667 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3921+15T>A single nucleotide variant not provided [RCV005139605] Chr5:177235960 [GRCh38]
Chr5:176662961 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1150G>A (p.Val384Ile) single nucleotide variant not provided [RCV005193812] Chr5:177204206 [GRCh38]
Chr5:176631207 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5510-19G>C single nucleotide variant not provided [RCV005144329] Chr5:177273653 [GRCh38]
Chr5:176700654 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.477G>A (p.Val159=) single nucleotide variant not provided [RCV005144152] Chr5:177135580 [GRCh38]
Chr5:176562581 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5432G>C (p.Arg1811Pro) single nucleotide variant not provided [RCV005168824] Chr5:177269730 [GRCh38]
Chr5:176696731 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3165del (p.Lys1055fs) deletion not provided [RCV005207010] Chr5:177211561 [GRCh38]
Chr5:176638562 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4386C>A (p.Thr1462=) single nucleotide variant not provided [RCV005188346] Chr5:177246685 [GRCh38]
Chr5:176673686 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7817C>T (p.Ala2606Val) single nucleotide variant not provided [RCV005144385] Chr5:177295185 [GRCh38]
Chr5:176722186 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7381C>G (p.Leu2461Val) single nucleotide variant not provided [RCV005131995] Chr5:177294749 [GRCh38]
Chr5:176721750 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1613T>C (p.Ile538Thr) single nucleotide variant not provided [RCV005137047] Chr5:177210012 [GRCh38]
Chr5:176637013 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2078A>G (p.Asn693Ser) single nucleotide variant not provided [RCV005191368] Chr5:177210477 [GRCh38]
Chr5:176637478 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.2052A>G (p.Ile684Met) single nucleotide variant not provided [RCV005144465] Chr5:177210451 [GRCh38]
Chr5:176637452 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3613G>C (p.Glu1205Gln) single nucleotide variant not provided [RCV005144497] Chr5:177212012 [GRCh38]
Chr5:176639013 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7317G>A (p.Leu2439=) single nucleotide variant not provided [RCV005243936] Chr5:177294685 [GRCh38]
Chr5:176721686 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.521T>A (p.Val174Asp) single nucleotide variant not provided [RCV005076182] Chr5:177135624 [GRCh38]
Chr5:176562625 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6861C>G (p.Asp2287Glu) single nucleotide variant not provided [RCV005194106] Chr5:177294229 [GRCh38]
Chr5:176721230 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.607G>A (p.Val203Ile) single nucleotide variant not provided [RCV005142355] Chr5:177135710 [GRCh38]
Chr5:176562711 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6802G>A (p.Ala2268Thr) single nucleotide variant not provided [RCV005169130] Chr5:177294170 [GRCh38]
Chr5:176721171 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4064C>T (p.Pro1355Leu) single nucleotide variant not provided [RCV005182804] Chr5:177238379 [GRCh38]
Chr5:176665380 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4050G>A (p.Pro1350=) single nucleotide variant not provided [RCV005144829] Chr5:177238365 [GRCh38]
Chr5:176665366 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3813G>A (p.Lys1271=) single nucleotide variant not provided [RCV005144847] Chr5:177235837 [GRCh38]
Chr5:176662838 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.153G>C (p.Ser51=) single nucleotide variant not provided [RCV005109534] Chr5:177135256 [GRCh38]
Chr5:176562257 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6932C>T (p.Ser2311Phe) single nucleotide variant not provided [RCV005152268] Chr5:177294300 [GRCh38]
Chr5:176721301 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2923T>C (p.Ser975Pro) single nucleotide variant not provided [RCV005165349] Chr5:177211322 [GRCh38]
Chr5:176638323 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5510-13T>A single nucleotide variant Sotos syndrome [RCV005234529] Chr5:177273659 [GRCh38]
Chr5:176700660 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3539A>G (p.Lys1180Arg) single nucleotide variant not provided [RCV005176274] Chr5:177211938 [GRCh38]
Chr5:176638939 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5306G>A (p.Trp1769Ter) single nucleotide variant not provided [RCV005150098] Chr5:177269604 [GRCh38]
Chr5:176696605 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4192+17G>A single nucleotide variant not provided [RCV005140603] Chr5:177238524 [GRCh38]
Chr5:176665525 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1546A>T (p.Ile516Leu) single nucleotide variant not provided [RCV005194751] Chr5:177209945 [GRCh38]
Chr5:176636946 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.8046C>G (p.Asn2682Lys) single nucleotide variant not provided [RCV005167559] Chr5:177295414 [GRCh38]
Chr5:176722415 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6620C>G (p.Pro2207Arg) single nucleotide variant not provided [RCV005167381] Chr5:177293988 [GRCh38]
Chr5:176720989 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.246C>A (p.Ile82=) single nucleotide variant not provided [RCV005169569] Chr5:177135349 [GRCh38]
Chr5:176562350 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4490G>T (p.Gly1497Val) single nucleotide variant not provided [RCV005150309] Chr5:177246789 [GRCh38]
Chr5:176673790 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1712C>G (p.Ser571Cys) single nucleotide variant not provided [RCV005114146] Chr5:177210111 [GRCh38]
Chr5:176637112 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7519G>C (p.Gly2507Arg) single nucleotide variant not provided [RCV005114155] Chr5:177294887 [GRCh38]
Chr5:176721888 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6918C>T (p.Ser2306=) single nucleotide variant not provided [RCV005158053] Chr5:177294286 [GRCh38]
Chr5:176721287 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4454A>G (p.Lys1485Arg) single nucleotide variant not provided [RCV005197442] Chr5:177246753 [GRCh38]
Chr5:176673754 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4777T>C (p.Cys1593Arg) single nucleotide variant not provided [RCV005135403] Chr5:177256962 [GRCh38]
Chr5:176683963 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4832G>A (p.Cys1611Tyr) single nucleotide variant not provided [RCV005135420] Chr5:177257017 [GRCh38]
Chr5:176684018 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4173A>G (p.Glu1391=) single nucleotide variant not provided [RCV005083451] Chr5:177238488 [GRCh38]
Chr5:176665489 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7366A>G (p.Met2456Val) single nucleotide variant not provided [RCV005191836] Chr5:177294734 [GRCh38]
Chr5:176721735 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4626G>A (p.Lys1542=) single nucleotide variant not provided [RCV005192753] Chr5:177248309 [GRCh38]
Chr5:176675310 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6765T>C (p.Pro2255=) single nucleotide variant not provided [RCV005082263] Chr5:177294133 [GRCh38]
Chr5:176721134 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7953T>G (p.Ser2651=) single nucleotide variant not provided [RCV005141516] Chr5:177295321 [GRCh38]
Chr5:176722322 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5893-16G>A single nucleotide variant not provided [RCV005206796] Chr5:177282449 [GRCh38]
Chr5:176709450 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7793A>G (p.Gln2598Arg) single nucleotide variant not provided [RCV005136629] Chr5:177295161 [GRCh38]
Chr5:176722162 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4005G>T (p.Leu1335Phe) single nucleotide variant not provided [RCV005150830] Chr5:177238320 [GRCh38]
Chr5:176665321 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7272A>G (p.Val2424=) single nucleotide variant not provided [RCV005183705] Chr5:177294640 [GRCh38]
Chr5:176721641 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5858del (p.Gly1953fs) deletion not provided [RCV005204490] Chr5:177280797 [GRCh38]
Chr5:176707798 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.603T>G (p.Asn201Lys) single nucleotide variant not provided [RCV005206819] Chr5:177135706 [GRCh38]
Chr5:176562707 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4390A>T (p.Ile1464Leu) single nucleotide variant not provided [RCV005119082] Chr5:177246689 [GRCh38]
Chr5:176673690 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1064-20G>A single nucleotide variant not provided [RCV005159438] Chr5:177204100 [GRCh38]
Chr5:176631101 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4986C>T (p.Val1662=) single nucleotide variant not provided [RCV005136690] Chr5:177260008 [GRCh38]
Chr5:176687009 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3636C>T (p.Ser1212=) single nucleotide variant not provided [RCV005163664] Chr5:177212035 [GRCh38]
Chr5:176639036 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3050C>T (p.Thr1017Ile) single nucleotide variant not provided [RCV005083159]|not specified [RCV005407383] Chr5:177211449 [GRCh38]
Chr5:176638450 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2507T>C (p.Leu836Pro) single nucleotide variant not provided [RCV005153193] Chr5:177210906 [GRCh38]
Chr5:176637907 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2160G>T (p.Glu720Asp) single nucleotide variant not provided [RCV005142253] Chr5:177210559 [GRCh38]
Chr5:176637560 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.481G>C (p.Asp161His) single nucleotide variant not provided [RCV005189124] Chr5:177135584 [GRCh38]
Chr5:176562585 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2882C>T (p.Ser961Phe) single nucleotide variant not provided [RCV005151161] Chr5:177211281 [GRCh38]
Chr5:176638282 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.928-4A>G single nucleotide variant not provided [RCV005188502] Chr5:177191880 [GRCh38]
Chr5:176618881 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4497+10A>G single nucleotide variant not provided [RCV005078116] Chr5:177246806 [GRCh38]
Chr5:176673807 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3119_3122dup (p.Asn1041fs) duplication not provided [RCV005162003] Chr5:177211515..177211516 [GRCh38]
Chr5:176638516..176638517 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.7826C>T (p.Ser2609Phe) single nucleotide variant not provided [RCV005080951] Chr5:177295194 [GRCh38]
Chr5:176722195 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7200C>T (p.Pro2400=) single nucleotide variant not provided [RCV005165495] Chr5:177294568 [GRCh38]
Chr5:176721569 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3405A>G (p.Pro1135=) single nucleotide variant not provided [RCV005141681] Chr5:177211804 [GRCh38]
Chr5:176638805 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3134G>A (p.Arg1045His) single nucleotide variant not provided [RCV005200537] Chr5:177211533 [GRCh38]
Chr5:176638534 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5509G>C (p.Ala1837Pro) single nucleotide variant not provided [RCV005200540] Chr5:177269807 [GRCh38]
Chr5:176696808 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5711C>G (p.Pro1904Arg) single nucleotide variant not provided [RCV005200541] Chr5:177280653 [GRCh38]
Chr5:176707654 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5529A>G (p.Ala1843=) single nucleotide variant not provided [RCV005181912] Chr5:177273691 [GRCh38]
Chr5:176700692 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3267del (p.Leu1091fs) deletion not provided [RCV005134328] Chr5:177211666 [GRCh38]
Chr5:176638667 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1664C>G (p.Ala555Gly) single nucleotide variant not provided [RCV005164620] Chr5:177210063 [GRCh38]
Chr5:176637064 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7484A>G (p.Lys2495Arg) single nucleotide variant not provided [RCV005166546] Chr5:177294852 [GRCh38]
Chr5:176721853 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4472C>T (p.Ser1491Leu) single nucleotide variant not provided [RCV005184253] Chr5:177246771 [GRCh38]
Chr5:176673772 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5276_5281delinsCTGTCC (p.Ile1759_Trp1761delinsThrValArg) indel not provided [RCV005157993] Chr5:177267691..177267696 [GRCh38]
Chr5:176694692..176694697 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.6117T>C (p.Arg2039=) single nucleotide variant not provided [RCV005076665] Chr5:177283894 [GRCh38]
Chr5:176710895 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5460G>A (p.Val1820=) single nucleotide variant not provided [RCV005190059] Chr5:177269758 [GRCh38]
Chr5:176696759 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4275G>T (p.Lys1425Asn) single nucleotide variant not provided [RCV005163026] Chr5:177239838 [GRCh38]
Chr5:176666839 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.11C>G (p.Thr4Ser) single nucleotide variant not provided [RCV005182282] Chr5:177135114 [GRCh38]
Chr5:176562115 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5510-4A>G single nucleotide variant not provided [RCV005194158] Chr5:177273668 [GRCh38]
Chr5:176700669 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1368_1423dup (p.Cys475fs) duplication not provided [RCV005165707] Chr5:177209766..177209767 [GRCh38]
Chr5:176636767..176636768 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4966+1G>C single nucleotide variant not provided [RCV005165595] Chr5:177257152 [GRCh38]
Chr5:176684153 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4641+7A>C single nucleotide variant not provided [RCV005158414] Chr5:177248331 [GRCh38]
Chr5:176675332 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.237C>T (p.Ala79=) single nucleotide variant not provided [RCV005077134] Chr5:177135340 [GRCh38]
Chr5:176562341 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6960A>G (p.Pro2320=) single nucleotide variant not provided [RCV005205391] Chr5:177294328 [GRCh38]
Chr5:176721329 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4183A>G (p.Lys1395Glu) single nucleotide variant not provided [RCV005187467] Chr5:177238498 [GRCh38]
Chr5:176665499 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4952T>C (p.Val1651Ala) single nucleotide variant not provided [RCV005192327] Chr5:177257137 [GRCh38]
Chr5:176684138 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.6314del (p.Gly2105fs) deletion not provided [RCV005203468] Chr5:177292007 [GRCh38]
Chr5:176719008 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.5314G>C (p.Ala1772Pro) single nucleotide variant not provided [RCV005205719] Chr5:177269612 [GRCh38]
Chr5:176696613 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.1432T>C (p.Ser478Pro) single nucleotide variant not provided [RCV005158615] Chr5:177209831 [GRCh38]
Chr5:176636832 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5116A>C (p.Asn1706His) single nucleotide variant not provided [RCV005137108] Chr5:177260138 [GRCh38]
Chr5:176687139 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3581A>T (p.Asp1194Val) single nucleotide variant not provided [RCV005162333] Chr5:177211980 [GRCh38]
Chr5:176638981 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1064-15C>T single nucleotide variant not provided [RCV005164120] Chr5:177204105 [GRCh38]
Chr5:176631106 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6948G>A (p.Leu2316=) single nucleotide variant not provided [RCV005141081] Chr5:177294316 [GRCh38]
Chr5:176721317 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1659G>A (p.Arg553=) single nucleotide variant not provided [RCV005158797] Chr5:177210058 [GRCh38]
Chr5:176637059 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2822G>A (p.Arg941His) single nucleotide variant not provided [RCV005152108] Chr5:177211221 [GRCh38]
Chr5:176638222 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1643C>G (p.Ser548Cys) single nucleotide variant not provided [RCV005184996] Chr5:177210042 [GRCh38]
Chr5:176637043 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2288G>A (p.Ser763Asn) single nucleotide variant not provided [RCV005205640] Chr5:177210687 [GRCh38]
Chr5:176637688 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6152-13G>A single nucleotide variant not provided [RCV005077399] Chr5:177288806 [GRCh38]
Chr5:176715807 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.188A>G (p.Gln63Arg) single nucleotide variant not provided [RCV005187765] Chr5:177135291 [GRCh38]
Chr5:176562292 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4581C>T (p.Ala1527=) single nucleotide variant not provided [RCV005137239] Chr5:177248264 [GRCh38]
Chr5:176675265 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2274A>G (p.Ser758=) single nucleotide variant not provided [RCV005083635] Chr5:177210673 [GRCh38]
Chr5:176637674 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7987T>A (p.Trp2663Arg) single nucleotide variant not provided [RCV005084215] Chr5:177295355 [GRCh38]
Chr5:176722356 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7C>G (p.Gln3Glu) single nucleotide variant not provided [RCV005075331] Chr5:177135110 [GRCh38]
Chr5:176562111 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7750G>A (p.Val2584Ile) single nucleotide variant not provided [RCV005159051] Chr5:177295118 [GRCh38]
Chr5:176722119 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1463A>T (p.Asp488Val) single nucleotide variant not provided [RCV005165082] Chr5:177209862 [GRCh38]
Chr5:176636863 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5192G>C (p.Arg1731Pro) single nucleotide variant not provided [RCV005141238] Chr5:177267607 [GRCh38]
Chr5:176694608 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4498-2A>G single nucleotide variant not provided [RCV005133757] Chr5:177248179 [GRCh38]
Chr5:176675180 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3817C>T (p.Arg1273Cys) single nucleotide variant not provided [RCV005190826] Chr5:177235841 [GRCh38]
Chr5:176662842 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7324G>A (p.Val2442Met) single nucleotide variant not provided [RCV005190831] Chr5:177294692 [GRCh38]
Chr5:176721693 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.3035G>A (p.Arg1012His) single nucleotide variant not provided [RCV005128849] Chr5:177211434 [GRCh38]
Chr5:176638435 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.7676C>A (p.Ala2559Asp) single nucleotide variant not provided [RCV005156722] Chr5:177295044 [GRCh38]
Chr5:176722045 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7867A>G (p.Ser2623Gly) single nucleotide variant not provided [RCV005136370] Chr5:177295235 [GRCh38]
Chr5:176722236 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2493G>C (p.Gly831=) single nucleotide variant not provided [RCV005166066] Chr5:177210892 [GRCh38]
Chr5:176637893 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4579G>A (p.Ala1527Thr) single nucleotide variant not provided [RCV005166133] Chr5:177248262 [GRCh38]
Chr5:176675263 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6522C>T (p.Phe2174=) single nucleotide variant not provided [RCV005206368] Chr5:177293890 [GRCh38]
Chr5:176720891 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4787G>A (p.Cys1596Tyr) single nucleotide variant not provided [RCV005120138] Chr5:177256972 [GRCh38]
Chr5:176683973 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3401G>T (p.Gly1134Val) single nucleotide variant not provided [RCV005161642] Chr5:177211800 [GRCh38]
Chr5:176638801 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7382T>C (p.Leu2461Pro) single nucleotide variant not provided [RCV005163323] Chr5:177294750 [GRCh38]
Chr5:176721751 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.888T>C (p.Pro296=) single nucleotide variant not provided [RCV005193611] Chr5:177135991 [GRCh38]
Chr5:176562992 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4247A>G (p.Asn1416Ser) single nucleotide variant not provided [RCV005194340] Chr5:177239810 [GRCh38]
Chr5:176666811 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2080A>T (p.Thr694Ser) single nucleotide variant not provided [RCV005166174] Chr5:177210479 [GRCh38]
Chr5:176637480 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.4302+4T>C single nucleotide variant not provided [RCV005206439] Chr5:177239869 [GRCh38]
Chr5:176666870 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3429T>C (p.Ser1143=) single nucleotide variant not provided [RCV005206558] Chr5:177211828 [GRCh38]
Chr5:176638829 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3044G>C (p.Cys1015Ser) single nucleotide variant not provided [RCV005189288] Chr5:177211443 [GRCh38]
Chr5:176638444 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3512G>T (p.Arg1171Leu) single nucleotide variant not provided [RCV005161731] Chr5:177211911 [GRCh38]
Chr5:176638912 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5883T>C (p.Asp1961=) single nucleotide variant not provided [RCV005164348] Chr5:177280825 [GRCh38]
Chr5:176707826 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5478G>A (p.Met1826Ile) single nucleotide variant not provided [RCV005139538] Chr5:177269776 [GRCh38]
Chr5:176696777 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4302+10T>C single nucleotide variant not provided [RCV005166223] Chr5:177239875 [GRCh38]
Chr5:176666876 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2298G>A (p.Ser766=) single nucleotide variant not provided [RCV005197447] Chr5:177210697 [GRCh38]
Chr5:176637698 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4569C>T (p.Pro1523=) single nucleotide variant not provided [RCV005148401] Chr5:177248252 [GRCh38]
Chr5:176675253 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4620A>T (p.Ala1540=) single nucleotide variant not provided [RCV005152792] Chr5:177248303 [GRCh38]
Chr5:176675304 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.327G>A (p.Thr109=) single nucleotide variant not provided [RCV005116742] Chr5:177135430 [GRCh38]
Chr5:176562431 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4401G>C (p.Lys1467Asn) single nucleotide variant not provided [RCV005188184] Chr5:177246700 [GRCh38]
Chr5:176673701 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4535A>G (p.Lys1512Arg) single nucleotide variant not provided [RCV005162650] Chr5:177248218 [GRCh38]
Chr5:176675219 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6007A>G (p.Lys2003Glu) single nucleotide variant not provided [RCV005113318] Chr5:177282579 [GRCh38]
Chr5:176709580 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.7353A>G (p.Arg2451=) single nucleotide variant not provided [RCV005204134]|not specified [RCV005407413] Chr5:177294721 [GRCh38]
Chr5:176721722 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.830C>T (p.Ser277Phe) single nucleotide variant not provided [RCV005068797] Chr5:177135933 [GRCh38]
Chr5:176562934 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6541_6542delinsAA (p.Ser2181Asn) indel not provided [RCV005150329] Chr5:177293909..177293910 [GRCh38]
Chr5:176720910..176720911 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6132A>G (p.Ala2044=) single nucleotide variant not provided [RCV005154819] Chr5:177283909 [GRCh38]
Chr5:176710910 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5759G>C (p.Cys1920Ser) single nucleotide variant not provided [RCV005130492] Chr5:177280701 [GRCh38]
Chr5:176707702 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.2717A>G (p.Lys906Arg) single nucleotide variant not provided [RCV005197363] Chr5:177211116 [GRCh38]
Chr5:176638117 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2514A>G (p.Leu838=) single nucleotide variant not provided [RCV005150493] Chr5:177210913 [GRCh38]
Chr5:176637914 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.1527T>A (p.Thr509=) single nucleotide variant not provided [RCV005128323] Chr5:177209926 [GRCh38]
Chr5:176636927 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5006A>G (p.His1669Arg) single nucleotide variant not provided [RCV005153858] Chr5:177260028 [GRCh38]
Chr5:176687029 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1002C>T (p.Arg334=) single nucleotide variant not provided [RCV005149411] Chr5:177191958 [GRCh38]
Chr5:176618959 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3409C>A (p.Leu1137Met) single nucleotide variant not provided [RCV005178863] Chr5:177211808 [GRCh38]
Chr5:176638809 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6152-15C>T single nucleotide variant not provided [RCV005152776] Chr5:177288804 [GRCh38]
Chr5:176715805 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4590A>G (p.Lys1530=) single nucleotide variant not provided [RCV005153936] Chr5:177248273 [GRCh38]
Chr5:176675274 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4231A>C (p.Lys1411Gln) single nucleotide variant not provided [RCV005205465] Chr5:177239794 [GRCh38]
Chr5:176666795 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6761C>A (p.Pro2254His) single nucleotide variant not provided [RCV005148415] Chr5:177294129 [GRCh38]
Chr5:176721130 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1064-5C>T single nucleotide variant not provided [RCV005181268] Chr5:177204115 [GRCh38]
Chr5:176631116 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3407A>G (p.Glu1136Gly) single nucleotide variant not provided [RCV005181323] Chr5:177211806 [GRCh38]
Chr5:176638807 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7689T>C (p.Ala2563=) single nucleotide variant not provided [RCV005181369] Chr5:177295057 [GRCh38]
Chr5:176722058 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2136A>G (p.Leu712=) single nucleotide variant not provided [RCV005199917] Chr5:177210535 [GRCh38]
Chr5:176637536 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5571G>A (p.Leu1857=) single nucleotide variant not provided [RCV005179165] Chr5:177273733 [GRCh38]
Chr5:176700734 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1483G>T (p.Ala495Ser) single nucleotide variant not provided [RCV005202231] Chr5:177209882 [GRCh38]
Chr5:176636883 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2967C>T (p.Gly989=) single nucleotide variant not provided [RCV005108434] Chr5:177211366 [GRCh38]
Chr5:176638367 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6691G>A (p.Gly2231Arg) single nucleotide variant not provided [RCV005149233] Chr5:177294059 [GRCh38]
Chr5:176721060 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6759A>T (p.Lys2253Asn) single nucleotide variant Inborn genetic diseases [RCV005387379]|not provided [RCV005180296] Chr5:177294127 [GRCh38]
Chr5:176721128 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.7068G>A (p.Thr2356=) single nucleotide variant not provided [RCV005183771] Chr5:177294436 [GRCh38]
Chr5:176721437 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.20T>C (p.Leu7Pro) single nucleotide variant Sotos syndrome [RCV005257003]|not provided [RCV005114677] Chr5:177135123 [GRCh38]
Chr5:176562124 [GRCh37]
Chr5:5q35.3		 likely benign|uncertain significance
NM_022455.5(NSD1):c.1485T>C (p.Ala495=) single nucleotide variant not provided [RCV005185106] Chr5:177209884 [GRCh38]
Chr5:176636885 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6258+20C>A single nucleotide variant not provided [RCV005150800] Chr5:177288945 [GRCh38]
Chr5:176715946 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2472G>A (p.Leu824=) single nucleotide variant not provided [RCV005179223] Chr5:177210871 [GRCh38]
Chr5:176637872 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7534C>T (p.Pro2512Ser) single nucleotide variant not provided [RCV005183898] Chr5:177294902 [GRCh38]
Chr5:176721903 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5256A>G (p.Lys1752=) single nucleotide variant not provided [RCV005148726] Chr5:177267671 [GRCh38]
Chr5:176694672 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5424C>T (p.His1808=) single nucleotide variant not provided [RCV005108103] Chr5:177269722 [GRCh38]
Chr5:176696723 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1990G>A (p.Glu664Lys) single nucleotide variant not provided [RCV005151924] Chr5:177210389 [GRCh38]
Chr5:176637390 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7710T>A (p.Leu2570=) single nucleotide variant not provided [RCV005182841] Chr5:177295078 [GRCh38]
Chr5:176722079 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.4911C>T (p.Leu1637=) single nucleotide variant not provided [RCV005183901] Chr5:177257096 [GRCh38]
Chr5:176684097 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1464T>C (p.Asp488=) single nucleotide variant not provided [RCV005108858] Chr5:177209863 [GRCh38]
Chr5:176636864 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.7773A>G (p.Ala2591=) single nucleotide variant not provided [RCV005180420] Chr5:177295141 [GRCh38]
Chr5:176722142 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3796+4A>C single nucleotide variant not provided [RCV005151006] Chr5:177212199 [GRCh38]
Chr5:176639200 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4641+6G>A single nucleotide variant not provided [RCV005200208] Chr5:177248330 [GRCh38]
Chr5:176675331 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5623-8T>C single nucleotide variant not provided [RCV005129905] Chr5:177280557 [GRCh38]
Chr5:176707558 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2474C>G (p.Ala825Gly) single nucleotide variant not provided [RCV005202507] Chr5:177210873 [GRCh38]
Chr5:176637874 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4766-20A>C single nucleotide variant not provided [RCV005127484] Chr5:177256931 [GRCh38]
Chr5:176683932 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.190G>A (p.Asp64Asn) single nucleotide variant not provided [RCV005177964] Chr5:177135293 [GRCh38]
Chr5:176562294 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.481G>A (p.Asp161Asn) single nucleotide variant not provided [RCV005149962] Chr5:177135584 [GRCh38]
Chr5:176562585 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1127C>T (p.Ala376Val) single nucleotide variant not provided [RCV005180650] Chr5:177204183 [GRCh38]
Chr5:176631184 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7740G>A (p.Ala2580=) single nucleotide variant not provided [RCV005179600] Chr5:177295108 [GRCh38]
Chr5:176722109 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.2810G>A (p.Arg937Gln) single nucleotide variant not provided [RCV005184237] Chr5:177211209 [GRCh38]
Chr5:176638210 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2935A>G (p.Ser979Gly) single nucleotide variant not provided [RCV005151236] Chr5:177211334 [GRCh38]
Chr5:176638335 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1456dup (p.Ser486fs) duplication not provided [RCV005200534] Chr5:177209853..177209854 [GRCh38]
Chr5:176636854..176636855 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.1864T>C (p.Cys622Arg) single nucleotide variant not provided [RCV005110679] Chr5:177210263 [GRCh38]
Chr5:176637264 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2411del (p.Pro804fs) deletion not provided [RCV005200535] Chr5:177210806 [GRCh38]
Chr5:176637807 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3071C>G (p.Ser1024Ter) single nucleotide variant not provided [RCV005200536] Chr5:177211470 [GRCh38]
Chr5:176638471 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3777G>C (p.Gln1259His) single nucleotide variant not provided [RCV005200538] Chr5:177212176 [GRCh38]
Chr5:176639177 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.6820C>G (p.Gln2274Glu) single nucleotide variant not provided [RCV005151282] Chr5:177294188 [GRCh38]
Chr5:176721189 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4843del (p.Tyr1615fs) deletion not provided [RCV005200539] Chr5:177257025 [GRCh38]
Chr5:176684026 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.581A>G (p.Asn194Ser) single nucleotide variant not provided [RCV005112964] Chr5:177135684 [GRCh38]
Chr5:176562685 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1322A>G (p.Lys441Arg) single nucleotide variant not provided [RCV005114145] Chr5:177209721 [GRCh38]
Chr5:176636722 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3363A>C (p.Lys1121Asn) single nucleotide variant not provided [RCV005114150] Chr5:177211762 [GRCh38]
Chr5:176638763 [GRCh37]
Chr5:5q35.3		 benign
NM_022455.5(NSD1):c.3778G>C (p.Ala1260Pro) single nucleotide variant not provided [RCV005114152] Chr5:177212177 [GRCh38]
Chr5:176639178 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1513A>G (p.Asn505Asp) single nucleotide variant not provided [RCV005148023] Chr5:177209912 [GRCh38]
Chr5:176636913 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.3155G>T (p.Arg1052Leu) single nucleotide variant not provided [RCV005150185] Chr5:177211554 [GRCh38]
Chr5:176638555 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.757C>T (p.Leu253Phe) single nucleotide variant not provided [RCV005114144] Chr5:177135860 [GRCh38]
Chr5:176562861 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2191T>G (p.Ser731Ala) single nucleotide variant not provided [RCV005154594] Chr5:177210590 [GRCh38]
Chr5:176637591 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6464-11T>G single nucleotide variant not provided [RCV005176252] Chr5:177293821 [GRCh38]
Chr5:176720822 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.3864T>G (p.Tyr1288Ter) single nucleotide variant not provided [RCV005152400] Chr5:177235888 [GRCh38]
Chr5:176662889 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.6152-10T>A single nucleotide variant not provided [RCV005153662] Chr5:177288809 [GRCh38]
Chr5:176715810 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7802G>T (p.Arg2601Met) single nucleotide variant not provided [RCV005152497] Chr5:177295170 [GRCh38]
Chr5:176722171 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4948A>C (p.Asn1650His) single nucleotide variant not provided [RCV005115253] Chr5:177257133 [GRCh38]
Chr5:176684134 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6873G>C (p.Gln2291His) single nucleotide variant not provided [RCV005150330] Chr5:177294241 [GRCh38]
Chr5:176721242 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2474C>T (p.Ala825Val) single nucleotide variant not provided [RCV005150271] Chr5:177210873 [GRCh38]
Chr5:176637874 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.5668_5673del (p.Ser1890_Glu1891del) deletion not provided [RCV005108758] Chr5:177280609..177280614 [GRCh38]
Chr5:176707610..176707615 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6338del (p.Ile2113fs) deletion not provided [RCV005150342] Chr5:177292033 [GRCh38]
Chr5:176719034 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.4784T>G (p.Val1595Gly) single nucleotide variant not provided [RCV005152532] Chr5:177256969 [GRCh38]
Chr5:176683970 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5146+1G>C single nucleotide variant not provided [RCV005257708] Chr5:177260169 [GRCh38]
Chr5:176687170 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3256A>G (p.Ser1086Gly) single nucleotide variant Inborn genetic diseases [RCV005379556] Chr5:177211655 [GRCh38]
Chr5:176638656 [GRCh37]
Chr5:5q35.3		 likely benign
NM_022455.5(NSD1):c.1001G>T (p.Arg334Leu) single nucleotide variant not provided [RCV005368122] Chr5:177191957 [GRCh38]
Chr5:176618958 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6332_6341del (p.Gly2111fs) deletion Sotos syndrome [RCV005253509] Chr5:177292027..177292036 [GRCh38]
Chr5:176719028..176719037 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.4493C>T (p.Ser1498Leu) single nucleotide variant Sotos syndrome [RCV005400064] Chr5:177246792 [GRCh38]
Chr5:176673793 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6300G>C (p.Lys2100Asn) single nucleotide variant Inborn genetic diseases [RCV005379554] Chr5:177291995 [GRCh38]
Chr5:176718996 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1726A>C (p.Asn576His) single nucleotide variant not provided [RCV005256268] Chr5:177210125 [GRCh38]
Chr5:176637126 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4903T>G (p.Cys1635Gly) single nucleotide variant Sotos syndrome [RCV005411140] Chr5:177257088 [GRCh38]
Chr5:176684089 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3141del (p.Ala1047_Leu1048insTer) deletion Sotos syndrome [RCV005252534] Chr5:177211539 [GRCh38]
Chr5:176638540 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.949A>G (p.Thr317Ala) single nucleotide variant not specified [RCV005409404] Chr5:177191905 [GRCh38]
Chr5:176618906 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.5026del (p.Ala1676fs) deletion Sotos syndrome [RCV005255917] Chr5:177260047 [GRCh38]
Chr5:176687048 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.2941A>C (p.Ser981Arg) single nucleotide variant Inborn genetic diseases [RCV005379553] Chr5:177211340 [GRCh38]
Chr5:176638341 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.2858C>T (p.Ser953Phe) single nucleotide variant Inborn genetic diseases [RCV005379557] Chr5:177211257 [GRCh38]
Chr5:176638258 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.7193C>G (p.Pro2398Arg) single nucleotide variant Inborn genetic diseases [RCV005387846] Chr5:177294561 [GRCh38]
Chr5:176721562 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1459G>T (p.Ala487Ser) single nucleotide variant Inborn genetic diseases [RCV005387847] Chr5:177209858 [GRCh38]
Chr5:176636859 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.365C>T (p.Thr122Ile) single nucleotide variant not provided [RCV005425640] Chr5:177135468 [GRCh38]
Chr5:176562469 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4786T>C (p.Cys1596Arg) single nucleotide variant not provided [RCV005416998] Chr5:177256971 [GRCh38]
Chr5:176683972 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.3546C>A (p.Asn1182Lys) single nucleotide variant not specified [RCV005417806] Chr5:177211945 [GRCh38]
Chr5:176638946 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.578G>A (p.Cys193Tyr) single nucleotide variant not provided [RCV005425243] Chr5:177135681 [GRCh38]
Chr5:176562682 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.4190C>A (p.Pro1397Gln) single nucleotide variant not provided [RCV005417242] Chr5:177238505 [GRCh38]
Chr5:176665506 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.6778C>T (p.Gln2260Ter) single nucleotide variant not provided [RCV005426860] Chr5:177294146 [GRCh38]
Chr5:176721147 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5792_5806del (p.Cys1931_Cys1935del) deletion Sotos syndrome [RCV005411145] Chr5:177280731..177280745 [GRCh38]
Chr5:176707732..176707746 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.5896G>T (p.Glu1966Ter) single nucleotide variant Sotos syndrome [RCV005411121] Chr5:177282468 [GRCh38]
Chr5:176709469 [GRCh37]
Chr5:5q35.3		 likely pathogenic
NM_022455.5(NSD1):c.3670G>T (p.Ala1224Ser) single nucleotide variant not specified [RCV005408609] Chr5:177212069 [GRCh38]
Chr5:176639070 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.1243C>T (p.Gln415Ter) single nucleotide variant not provided [RCV005429782] Chr5:177209642 [GRCh38]
Chr5:176636643 [GRCh37]
Chr5:5q35.3		 pathogenic
NM_022455.5(NSD1):c.540A>G (p.Ile180Met) single nucleotide variant not provided [RCV005412038] Chr5:177135643 [GRCh38]
Chr5:176562644 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_022455.5(NSD1):c.248del (p.Asn83fs) deletion Sotos syndrome [RCV005411022]|not provided [RCV005412764] Chr5:177135350 [GRCh38]
Chr5:176562351 [GRCh37]
Chr5:5q35.3		 pathogenic|likely pathogenic
NM_022455.5(NSD1):c.7610G>T (p.Arg2537Ile) single nucleotide variant not provided [RCV005410646] Chr5:177294978 [GRCh38]
Chr5:176721979 [GRCh37]
Chr5:5q35.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:9008
Count of miRNA genes:1339
Interacting mature miRNAs:1807
Transcripts:ENST00000347982, ENST00000354179, ENST00000361032, ENST00000375350, ENST00000439151, ENST00000503056, ENST00000504457, ENST00000505395, ENST00000508029, ENST00000508896, ENST00000510954, ENST00000511258, ENST00000512992, ENST00000513736, ENST00000515735, ENST00000602285
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406998342GWAS647318_HBMI-adjusted waist circumference QTL GWAS647318 (human)4e-08body size trait (VT:0100005)5177145769177145770Human
597326495GWAS1422569_Hpain QTL GWAS1422569 (human)1e-08pain threshold (VT:0001970)5177240326177240327Human
597274783GWAS1370857_Hsuperoxide dismutase [Mn]; mitochondrial measurement QTL GWAS1370857 (human)2e-12superoxide dismutase [Mn]; mitochondrial measurement5177252406177252407Human
406998341GWAS647317_HBMI-adjusted waist circumference QTL GWAS647317 (human)2e-27body size trait (VT:0100005)5177176587177176588Human
597314450GWAS1410524_HBMI-adjusted waist circumference QTL GWAS1410524 (human)1e-08body size trait (VT:0100005)5177176439177176442Human
597314451GWAS1410525_HBMI-adjusted waist circumference QTL GWAS1410525 (human)2e-10body size trait (VT:0100005)5177176587177176588Human
597223699GWAS1319773_Hcystatin C measurement QTL GWAS1319773 (human)5e-09blood cystatin C amount (VT:0010743)blood cystatin C level (CMO:0002777)5177250706177250707Human
597297046GWAS1393120_HBMI-adjusted hip circumference QTL GWAS1393120 (human)4e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)5177176587177176588Human
597381270GWAS1477344_Hplatelet count QTL GWAS1477344 (human)2e-13platelet quantity (VT:0003179)platelet count (CMO:0000029)5177267480177267481Human
597029893GWAS1125967_Hbody mass index QTL GWAS1125967 (human)2e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)5177226053177226054Human
597326605GWAS1422679_HFEV/FVC ratio QTL GWAS1422679 (human)7e-13lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)5177179051177179052Human
407082580GWAS731556_Hhigh density lipoprotein cholesterol measurement QTL GWAS731556 (human)4e-09blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)5177210575177210576Human
597064846GWAS1160920_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS1160920 (human)6e-12wellness/fitness trait (VT:1000152)voluntary body mobility/immobility measurement (CMO:0000954)5177299634177299635Human
596956303GWAS1075822_HBMI-adjusted waist circumference QTL GWAS1075822 (human)3e-10BMI-adjusted waist circumference5177299634177299635Human
597051402GWAS1147476_Hbody fat distribution QTL GWAS1147476 (human)4e-09body fat mass (VT:0010482)body fat morphological measurement (CMO:0000089)5177250562177250563Human
597062667GWAS1158741_HBMI-adjusted waist circumference QTL GWAS1158741 (human)5e-11body size trait (VT:0100005)5177299634177299635Human
597329797GWAS1425871_Hsexual dimorphism measurement QTL GWAS1425871 (human)3e-08sexual dimorphism measurement5177279413177279414Human
597251384GWAS1347458_HBMI-adjusted waist-hip ratio QTL GWAS1347458 (human)1e-12body size trait (VT:0100005)5177176587177176588Human
2289409BW320_HBody weight QTL 320 (human)3.50.0002Body weightlean mass5160925164181538259Human
597323065GWAS1419139_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1419139 (human)3e-08blood non-HDL cholesterol amount (VT:0010474)blood non-high density lipoprotein cholesterol level (CMO:0003967)5177134112177134113Human
597019056GWAS1115130_HBMI-adjusted waist-hip ratio QTL GWAS1115130 (human)0.0000003body size trait (VT:0100005)waist to hip ratio (WHR) (CMO:0000020)5177299634177299635Human
597065917GWAS1161991_HBMI-adjusted waist circumference QTL GWAS1161991 (human)6e-13body size trait (VT:0100005)5177299634177299635Human
597593266GWAS1650126_Hplatelet count QTL GWAS1650126 (human)5e-16platelet quantity (VT:0003179)platelet count (CMO:0000029)5177218011177218012Human
597284651GWAS1380725_Hhigh density lipoprotein cholesterol measurement QTL GWAS1380725 (human)4e-10blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)5177202295177202296Human
597140773GWAS1236847_Hhigh density lipoprotein cholesterol measurement QTL GWAS1236847 (human)7e-11blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)5177289976177289977Human
407147506GWAS796482_Hmigraine disorder QTL GWAS796482 (human)0.000005migraine disorder5177264278177264279Human
406998261GWAS647237_HBMI-adjusted waist circumference QTL GWAS647237 (human)1e-14body size trait (VT:0100005)5177150041177150042Human
597419555GWAS1515629_Hmathematical ability QTL GWAS1515629 (human)5e-09cognitive behavior trait (VT:0010450)5177132734177132735Human
597326624GWAS1422698_Hbody mass index QTL GWAS1422698 (human)3e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)5177226053177226054Human
597042858GWAS1138932_Hbody fat distribution QTL GWAS1138932 (human)2e-10body fat mass (VT:0010482)body fat morphological measurement (CMO:0000089)5177250562177250563Human
597593507GWAS1650367_Hplatelet count QTL GWAS1650367 (human)3e-20platelet quantity (VT:0003179)platelet count (CMO:0000029)5177218011177218012Human
596953643GWAS1073162_Hwaist-hip ratio QTL GWAS1073162 (human)0.0000003waist-hip ratio5177299634177299635Human
407219717GWAS868693_Hlymphocyte count QTL GWAS868693 (human)5e-22lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)5177264278177264279Human
597581406GWAS1638266_Htype 2 diabetes mellitus QTL GWAS1638266 (human)9e-19type 2 diabetes mellitus5177299634177299635Human
597145437GWAS1241511_Hprostate carcinoma QTL GWAS1241511 (human)8e-09prostate integrity trait (VT:0010571)5177176439177176441Human
597082588GWAS1178662_Hlymphocyte count QTL GWAS1178662 (human)8e-16lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)5177246067177246068Human
597264082GWAS1360156_Htype 2 diabetes mellitus QTL GWAS1360156 (human)5e-09type 2 diabetes mellitus5177162584177162585Human
597592010GWAS1648870_Hplatelet count QTL GWAS1648870 (human)9e-17platelet quantity (VT:0003179)platelet count (CMO:0000029)5177218011177218012Human
597613386GWAS1670246_Hplatelet count QTL GWAS1670246 (human)6e-20platelet quantity (VT:0003179)platelet count (CMO:0000029)5177218011177218012Human
597064514GWAS1160588_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS1160588 (human)1e-09wellness/fitness trait (VT:1000152)voluntary body mobility/immobility measurement (CMO:0000954)5177299634177299635Human
597247809GWAS1343883_HBMI-adjusted waist-hip ratio QTL GWAS1343883 (human)5e-15body size trait (VT:0100005)5177176587177176588Human
407083419GWAS732395_Hhigh density lipoprotein cholesterol measurement QTL GWAS732395 (human)1e-10blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)5177210575177210576Human
597046607GWAS1142681_Hbody fat distribution QTL GWAS1142681 (human)2e-11body fat mass (VT:0010482)body fat morphological measurement (CMO:0000089)5177250562177250563Human
597064911GWAS1160985_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS1160985 (human)1e-10wellness/fitness trait (VT:1000152)voluntary body mobility/immobility measurement (CMO:0000954)5177299634177299635Human
596976078GWAS1095597_Hbody height QTL GWAS1095597 (human)2e-42body height5177156534177156535Human
597341505GWAS1437579_Hsexual dimorphism measurement QTL GWAS1437579 (human)2e-09sexual dimorphism measurement5177176587177176588Human
597615042GWAS1671902_Hplatelet count QTL GWAS1671902 (human)2e-22platelet quantity (VT:0003179)platelet count (CMO:0000029)5177218011177218012Human
597019336GWAS1115410_HBMI-adjusted waist-hip ratio QTL GWAS1115410 (human)0.0000001body size trait (VT:0100005)5177299634177299635Human
597181178GWAS1277252_Hbody mass index QTL GWAS1277252 (human)2e-09body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)5177248422177248423Human
597248508GWAS1344582_HBMI-adjusted hip circumference QTL GWAS1344582 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)5177176587177176588Human
407003559GWAS652535_Hbody mass index QTL GWAS652535 (human)1e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)5177226053177226054Human
597108466GWAS1204540_Hurate measurement QTL GWAS1204540 (human)3e-08urate measurementblood uric acid level (CMO:0000501)5177278864177278865Human
597612153GWAS1669013_Hplatelet count QTL GWAS1669013 (human)8e-18platelet quantity (VT:0003179)platelet count (CMO:0000029)5177218011177218012Human
597292529GWAS1388603_Hlymphocyte count QTL GWAS1388603 (human)1e-15lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)5177246067177246068Human
597270771GWAS1366845_Htype 2 diabetes mellitus QTL GWAS1366845 (human)0.000003type 2 diabetes mellitus5177162584177162585Human
597050361GWAS1146435_HBMI-adjusted waist-hip ratio QTL GWAS1146435 (human)5e-09body size trait (VT:0100005)5177176587177176588Human
597261929GWAS1358003_Hhigh density lipoprotein cholesterol measurement QTL GWAS1358003 (human)1e-08blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)5177249460177249461Human
597081190GWAS1177264_Hneutrophil count QTL GWAS1177264 (human)4e-16neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)5177255589177255590Human
597064294GWAS1160368_HBMI-adjusted waist circumference QTL GWAS1160368 (human)3e-10wellness/fitness trait (VT:1000152)voluntary body mobility/immobility measurement (CMO:0000954)5177299634177299635Human
597064295GWAS1160369_HBMI-adjusted waist circumference QTL GWAS1160369 (human)0.0000005body size trait (VT:0100005)5177299634177299635Human
597326185GWAS1422259_Hpain QTL GWAS1422259 (human)0.0000004pain threshold (VT:0001970)5177264278177264279Human
597064293GWAS1160367_HBMI-adjusted waist circumference QTL GWAS1160367 (human)0.0000002body size trait (VT:0100005)5177299634177299635Human
597086432GWAS1182506_Htype 2 diabetes mellitus QTL GWAS1182506 (human)5e-11type 2 diabetes mellitus5177252406177252407Human
597224430GWAS1320504_HBMI-adjusted waist circumference QTL GWAS1320504 (human)7e-09body size trait (VT:0100005)5177296575177296576Human
597224431GWAS1320505_HBMI-adjusted waist circumference QTL GWAS1320505 (human)1e-16body size trait (VT:0100005)5177176587177176588Human
597042913GWAS1138987_Hbody fat distribution QTL GWAS1138987 (human)1e-08body fat mass (VT:0010482)body fat morphological measurement (CMO:0000089)5177250562177250563Human
597020002GWAS1116076_HBMI-adjusted waist-hip ratio, sex interaction measurement, age at assessment QTL GWAS1116076 (human)1e-08body size trait (VT:0100005)5177299634177299635Human
597271904GWAS1367978_Htriglyceride measurement QTL GWAS1367978 (human)3e-18triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)5177202545177202546Human
407305535GWAS954511_Hlymphocyte count QTL GWAS954511 (human)3e-22lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)5177246067177246068Human
597295331GWAS1391405_Hmigraine disorder QTL GWAS1391405 (human)2e-08migraine disorder5177249460177249461Human
597340640GWAS1436714_Hasthma QTL GWAS1436714 (human)1e-10asthma5177216150177216151Human
597380455GWAS1476529_Hplatelet count QTL GWAS1476529 (human)6e-15platelet quantity (VT:0003179)platelet count (CMO:0000029)5177267480177267481Human
597064296GWAS1160370_HBMI-adjusted waist circumference QTL GWAS1160370 (human)9e-08body size trait (VT:0100005)5177299634177299635Human
597080937GWAS1177011_Hneutrophil count QTL GWAS1177011 (human)2e-15neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)5177141558177141559Human
597065705GWAS1161779_HBMI-adjusted waist circumference QTL GWAS1161779 (human)1e-12body size trait (VT:0100005)5177299634177299635Human

Markers in Region
WI-11713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,624,655 - 176,624,754UniSTSGRCh37
Build 365176,557,261 - 176,557,360RGDNCBI36
Celera5171,876,553 - 171,876,652RGD
Cytogenetic Map5q35UniSTS
HuRef5171,545,575 - 171,545,674UniSTS
GeneMap99-GB4 RH Map5657.75UniSTS
Whitehead-RH Map5546.6UniSTS
SGC34971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,639,075 - 176,639,205UniSTSGRCh37
Build 365176,571,681 - 176,571,811RGDNCBI36
Celera5171,862,102 - 171,862,232RGD
Cytogenetic Map5q35UniSTS
HuRef5171,559,981 - 171,560,111UniSTS
GeneMap99-GB4 RH Map5636.91UniSTS
Whitehead-RH Map5540.8UniSTS
NCBI RH Map5973.0UniSTS
WI-21083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,726,897 - 176,727,146UniSTSGRCh37
Build 365176,659,503 - 176,659,752RGDNCBI36
Celera5171,774,216 - 171,774,464RGD
Cytogenetic Map5q35UniSTS
HuRef5171,647,632 - 171,647,880UniSTS
GeneMap99-GB4 RH Map5642.69UniSTS
Whitehead-RH Map5541.6UniSTS
SHGC-24370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,727,027 - 176,727,146UniSTSGRCh37
Build 365176,659,633 - 176,659,752RGDNCBI36
Celera5171,774,216 - 171,774,334RGD
Cytogenetic Map5q35UniSTS
HuRef5171,647,762 - 171,647,880UniSTS
Stanford-G3 RH Map56262.0UniSTS
GeneMap99-G3 RH Map56350.0UniSTS
RH80203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,636,659 - 176,636,901UniSTSGRCh37
Build 365176,569,265 - 176,569,507RGDNCBI36
Celera5171,864,406 - 171,864,648RGD
Cytogenetic Map5q35UniSTS
HuRef5171,557,565 - 171,557,807UniSTS
RH92299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,564,156 - 176,564,327UniSTSGRCh37
Build 365176,496,762 - 176,496,933RGDNCBI36
Celera5171,936,984 - 171,937,155RGD
Cytogenetic Map5q35UniSTS
HuRef5171,485,360 - 171,485,531UniSTS
GeneMap99-GB4 RH Map5644.31UniSTS
D5S2221E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,720,945 - 176,721,069UniSTSGRCh37
Build 365176,653,551 - 176,653,675RGDNCBI36
Celera5171,780,292 - 171,780,416RGD
Cytogenetic Map5q35UniSTS
HuRef5171,641,680 - 171,641,804UniSTS
D5S2260E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,723,145 - 176,723,268UniSTSGRCh37
Build 365176,655,751 - 176,655,874RGDNCBI36
Celera5171,778,093 - 171,778,216RGD
Cytogenetic Map5q35UniSTS
HuRef5171,643,880 - 171,644,003UniSTS
bac51977T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,636,051 - 176,636,213UniSTSGRCh37
Build 365176,568,657 - 176,568,819RGDNCBI36
Celera5171,865,094 - 171,865,256RGD
Cytogenetic Map5q35UniSTS
HuRef5171,556,958 - 171,557,120UniSTS
Hrmt1l2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,693,408 - 176,693,571UniSTSGRCh37
Build 365176,626,014 - 176,626,177RGDNCBI36
Celera5171,807,744 - 171,807,907RGD
HuRef5171,614,185 - 171,614,348UniSTS
WI-14959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,722,195 - 176,722,319UniSTSGRCh37
Build 365176,654,801 - 176,654,925RGDNCBI36
Celera5171,779,042 - 171,779,166RGD
Cytogenetic Map5q35UniSTS
HuRef5171,642,930 - 171,643,054UniSTS
GeneMap99-GB4 RH Map5636.91UniSTS
Whitehead-RH Map5540.9UniSTS
NCBI RH Map5973.0UniSTS
RH18384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,725,407 - 176,725,510UniSTSGRCh37
Build 365176,658,013 - 176,658,116RGDNCBI36
Celera5171,775,851 - 171,775,954RGD
Cytogenetic Map5q35UniSTS
HuRef5171,646,142 - 171,646,245UniSTS
GeneMap99-GB4 RH Map5636.91UniSTS
NCBI RH Map5973.0UniSTS
RH68619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,638,900 - 176,639,023UniSTSGRCh37
Build 365176,571,506 - 176,571,629RGDNCBI36
Celera5171,862,284 - 171,862,407RGD
Cytogenetic Map5q35UniSTS
HuRef5171,559,806 - 171,559,929UniSTS
GeneMap99-GB4 RH Map5636.91UniSTS
NCBI RH Map5973.0UniSTS
MARC_13653-13654:1002893061:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,638,406 - 176,638,806UniSTSGRCh37
Build 365176,571,012 - 176,571,412RGDNCBI36
Celera5171,862,501 - 171,862,901RGD
HuRef5171,559,312 - 171,559,712UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2252 4969 1724 2349 5 622 1951 463 2269 7299 6469 53 3730 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001409309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC146507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF085858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF322907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF380302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY049721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK300021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN333750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY924611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH279704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN633413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ079030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ079031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ079032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000347982   ⟹   ENSP00000343209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,134,229 - 177,295,762 (+)Ensembl
Ensembl Acc Id: ENST00000354179   ⟹   ENSP00000346111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,133,079 - 177,300,151 (+)Ensembl
Ensembl Acc Id: ENST00000375350   ⟹   ENSP00000364499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,212,111 - 177,239,865 (+)Ensembl
Ensembl Acc Id: ENST00000439151   ⟹   ENSP00000395929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,133,773 - 177,300,213 (+)Ensembl
Ensembl Acc Id: ENST00000503056   ⟹   ENSP00000424024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,265,727 - 177,295,459 (+)Ensembl
Ensembl Acc Id: ENST00000504457   ⟹   ENSP00000422996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,266,337 - 177,269,684 (+)Ensembl
Ensembl Acc Id: ENST00000505395   ⟹   ENSP00000424096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,266,380 - 177,269,671 (+)Ensembl
Ensembl Acc Id: ENST00000508029   ⟹   ENSP00000425120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,265,465 - 177,295,459 (+)Ensembl
Ensembl Acc Id: ENST00000508896   ⟹   ENSP00000423372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,131,830 - 177,300,213 (+)Ensembl
Ensembl Acc Id: ENST00000510954   ⟹   ENSP00000423982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,133,854 - 177,239,205 (+)Ensembl
Ensembl Acc Id: ENST00000511258   ⟹   ENSP00000426428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,134,173 - 177,137,404 (+)Ensembl
Ensembl Acc Id: ENST00000512992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,133,025 - 177,135,426 (+)Ensembl
Ensembl Acc Id: ENST00000513736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,288,526 - 177,292,127 (+)Ensembl
Ensembl Acc Id: ENST00000515735   ⟹   ENSP00000423048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,266,587 - 177,273,678 (+)Ensembl
Ensembl Acc Id: ENST00000602285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,133,798 - 177,136,345 (+)Ensembl
Ensembl Acc Id: ENST00000638627   ⟹   ENSP00000492679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,135,167 - 177,210,453 (+)Ensembl
Ensembl Acc Id: ENST00000644863   ⟹   ENSP00000496157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,135,167 - 177,210,068 (+)Ensembl
Ensembl Acc Id: ENST00000685206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,135,136 - 177,295,648 (+)Ensembl
Ensembl Acc Id: ENST00000686385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,291,280 - 177,295,761 (+)Ensembl
Ensembl Acc Id: ENST00000686993   ⟹   ENSP00000510020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,133,600 - 177,300,213 (+)Ensembl
Ensembl Acc Id: ENST00000687095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,266,557 - 177,280,754 (+)Ensembl
Ensembl Acc Id: ENST00000687453   ⟹   ENSP00000508426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,135,086 - 177,295,757 (+)Ensembl
Ensembl Acc Id: ENST00000688613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,135,287 - 177,300,151 (+)Ensembl
Ensembl Acc Id: ENST00000689326   ⟹   ENSP00000509594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,133,768 - 177,246,744 (+)Ensembl
Ensembl Acc Id: ENST00000689345   ⟹   ENSP00000509711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,133,900 - 177,300,151 (+)Ensembl
Ensembl Acc Id: ENST00000689549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,133,025 - 177,285,364 (+)Ensembl
Ensembl Acc Id: ENST00000692024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,265,497 - 177,285,358 (+)Ensembl
RefSeq Acc Id: NM_001365684   ⟹   NP_001352613
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,134,136 - 177,300,213 (+)NCBI
T2T-CHM13v2.05177,677,346 - 177,843,448 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001409301   ⟹   NP_001396230
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,131,798 - 177,300,213 (+)NCBI
T2T-CHM13v2.05177,675,008 - 177,843,448 (+)NCBI
RefSeq Acc Id: NM_001409302   ⟹   NP_001396231
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,133,015 - 177,300,213 (+)NCBI
T2T-CHM13v2.05177,676,225 - 177,843,448 (+)NCBI
RefSeq Acc Id: NM_001409303   ⟹   NP_001396232
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,133,600 - 177,300,213 (+)NCBI
T2T-CHM13v2.05177,676,810 - 177,843,448 (+)NCBI
RefSeq Acc Id: NM_001409304   ⟹   NP_001396233
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,131,798 - 177,300,213 (+)NCBI
T2T-CHM13v2.05177,675,008 - 177,843,448 (+)NCBI
RefSeq Acc Id: NM_001409305   ⟹   NP_001396234
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,131,798 - 177,300,213 (+)NCBI
T2T-CHM13v2.05177,675,008 - 177,843,448 (+)NCBI
RefSeq Acc Id: NM_001409306   ⟹   NP_001396235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,131,798 - 177,300,213 (+)NCBI
T2T-CHM13v2.05177,675,008 - 177,843,448 (+)NCBI
RefSeq Acc Id: NM_001409307   ⟹   NP_001396236
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,133,015 - 177,300,213 (+)NCBI
T2T-CHM13v2.05177,676,225 - 177,843,448 (+)NCBI
RefSeq Acc Id: NM_001409308   ⟹   NP_001396237
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,131,798 - 177,300,213 (+)NCBI
T2T-CHM13v2.05177,675,008 - 177,843,448 (+)NCBI
RefSeq Acc Id: NM_001409309   ⟹   NP_001396238
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,133,600 - 177,300,213 (+)NCBI
T2T-CHM13v2.05177,676,810 - 177,843,448 (+)NCBI
RefSeq Acc Id: NM_022455   ⟹   NP_071900
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,133,773 - 177,300,213 (+)NCBI
GRCh375176,560,026 - 176,727,214 (+)NCBI
Build 365176,493,532 - 176,655,369 (+)NCBI Archive
HuRef5171,481,615 - 171,647,948 (+)ENTREZGENE
CHM1_15175,993,587 - 176,160,257 (+)NCBI
T2T-CHM13v2.05177,676,983 - 177,843,448 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172349   ⟹   NP_758859
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,133,015 - 177,300,213 (+)NCBI
GRCh375176,560,026 - 176,727,214 (+)NCBI
Build 365176,494,691 - 176,655,369 (+)NCBI Archive
HuRef5171,481,615 - 171,647,948 (+)ENTREZGENE
CHM1_15175,992,834 - 176,160,257 (+)NCBI
T2T-CHM13v2.05177,676,225 - 177,843,448 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001352613 (Get FASTA)   NCBI Sequence Viewer  
  NP_001396230 (Get FASTA)   NCBI Sequence Viewer  
  NP_001396231 (Get FASTA)   NCBI Sequence Viewer  
  NP_001396232 (Get FASTA)   NCBI Sequence Viewer  
  NP_001396233 (Get FASTA)   NCBI Sequence Viewer  
  NP_001396234 (Get FASTA)   NCBI Sequence Viewer  
  NP_001396235 (Get FASTA)   NCBI Sequence Viewer  
  NP_001396236 (Get FASTA)   NCBI Sequence Viewer  
  NP_001396237 (Get FASTA)   NCBI Sequence Viewer  
  NP_001396238 (Get FASTA)   NCBI Sequence Viewer  
  NP_071900 (Get FASTA)   NCBI Sequence Viewer  
  NP_758859 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH21961 (Get FASTA)   NCBI Sequence Viewer  
  AAI39790 (Get FASTA)   NCBI Sequence Viewer  
  AAI50629 (Get FASTA)   NCBI Sequence Viewer  
  AAK92049 (Get FASTA)   NCBI Sequence Viewer  
  AAL06645 (Get FASTA)   NCBI Sequence Viewer  
  AAL27991 (Get FASTA)   NCBI Sequence Viewer  
  AAL40694 (Get FASTA)   NCBI Sequence Viewer  
  AUI41275 (Get FASTA)   NCBI Sequence Viewer  
  BAB15281 (Get FASTA)   NCBI Sequence Viewer  
  BAB15346 (Get FASTA)   NCBI Sequence Viewer  
  BAB70868 (Get FASTA)   NCBI Sequence Viewer  
  BAB71247 (Get FASTA)   NCBI Sequence Viewer  
  BAC03645 (Get FASTA)   NCBI Sequence Viewer  
  CAH56331 (Get FASTA)   NCBI Sequence Viewer  
  CCO13784 (Get FASTA)   NCBI Sequence Viewer  
  EAW85031 (Get FASTA)   NCBI Sequence Viewer  
  EAW85032 (Get FASTA)   NCBI Sequence Viewer  
  EAW85033 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000343209
  ENSP00000346111
  ENSP00000395929
  ENSP00000395929.2
  ENSP00000423372
  ENSP00000508426
  ENSP00000508426.1
GenBank Protein Q96L73 (Get FASTA)   NCBI Sequence Viewer  
  QAT92865 (Get FASTA)   NCBI Sequence Viewer  
  QIC37936 (Get FASTA)   NCBI Sequence Viewer  
  UWM72405 (Get FASTA)   NCBI Sequence Viewer  
  UWM72406 (Get FASTA)   NCBI Sequence Viewer  
  UWM72407 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_758859   ⟸   NM_172349
- Peptide Label: isoform a
- UniProtKB: D6RA58 (UniProtKB/TrEMBL),   A0A8I5QJP2 (UniProtKB/TrEMBL),   B2RWP5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_071900   ⟸   NM_022455
- Peptide Label: isoform b
- UniProtKB: Q96PD8 (UniProtKB/Swiss-Prot),   Q96RN7 (UniProtKB/Swiss-Prot),   Q96L73 (UniProtKB/Swiss-Prot),   B2RWP5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001352613   ⟸   NM_001365684
- Peptide Label: isoform a
- UniProtKB: D6RA58 (UniProtKB/TrEMBL),   A0A8I5QJP2 (UniProtKB/TrEMBL),   B2RWP5 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000424024   ⟸   ENST00000503056
Ensembl Acc Id: ENSP00000395929   ⟸   ENST00000439151
Ensembl Acc Id: ENSP00000422996   ⟸   ENST00000504457
Ensembl Acc Id: ENSP00000343209   ⟸   ENST00000347982
Ensembl Acc Id: ENSP00000424096   ⟸   ENST00000505395
Ensembl Acc Id: ENSP00000492679   ⟸   ENST00000638627
Ensembl Acc Id: ENSP00000364499   ⟸   ENST00000375350
Ensembl Acc Id: ENSP00000425120   ⟸   ENST00000508029
Ensembl Acc Id: ENSP00000423372   ⟸   ENST00000508896
Ensembl Acc Id: ENSP00000423982   ⟸   ENST00000510954
Ensembl Acc Id: ENSP00000346111   ⟸   ENST00000354179
Ensembl Acc Id: ENSP00000426428   ⟸   ENST00000511258
Ensembl Acc Id: ENSP00000496157   ⟸   ENST00000644863
Ensembl Acc Id: ENSP00000423048   ⟸   ENST00000515735
Ensembl Acc Id: ENSP00000508426   ⟸   ENST00000687453
Ensembl Acc Id: ENSP00000510020   ⟸   ENST00000686993
Ensembl Acc Id: ENSP00000509594   ⟸   ENST00000689326
Ensembl Acc Id: ENSP00000509711   ⟸   ENST00000689345
RefSeq Acc Id: NP_001396230   ⟸   NM_001409301
- Peptide Label: isoform b
- UniProtKB: Q96PD8 (UniProtKB/Swiss-Prot),   Q96L73 (UniProtKB/Swiss-Prot),   Q96RN7 (UniProtKB/Swiss-Prot),   B2RWP5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001396233   ⟸   NM_001409304
- Peptide Label: isoform c
- UniProtKB: B2RWP5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001396234   ⟸   NM_001409305
- Peptide Label: isoform d
- UniProtKB: B2RWP5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001396235   ⟸   NM_001409306
- Peptide Label: isoform e
- UniProtKB: B2RWP5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001396237   ⟸   NM_001409308
- Peptide Label: isoform a
- UniProtKB: D6RA58 (UniProtKB/TrEMBL),   A0A8I5QJP2 (UniProtKB/TrEMBL),   B2RWP5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001396231   ⟸   NM_001409302
- Peptide Label: isoform b
- UniProtKB: Q96PD8 (UniProtKB/Swiss-Prot),   Q96L73 (UniProtKB/Swiss-Prot),   Q96RN7 (UniProtKB/Swiss-Prot),   B2RWP5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001396236   ⟸   NM_001409307
- Peptide Label: isoform e
- UniProtKB: B2RWP5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001396232   ⟸   NM_001409303
- Peptide Label: isoform b
- UniProtKB: Q96PD8 (UniProtKB/Swiss-Prot),   Q96L73 (UniProtKB/Swiss-Prot),   Q96RN7 (UniProtKB/Swiss-Prot),   B2RWP5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001396238   ⟸   NM_001409309
- Peptide Label: isoform f
- UniProtKB: B2RWP5 (UniProtKB/TrEMBL)
Protein Domains
AWS   NSD Cys-His rich   PHD-type   Post-SET   PWWP   SET

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96L73-F1-model_v2 AlphaFold Q96L73 1-2696 view protein structure

Promoters
RGD ID:6803408
Promoter ID:HG_KWN:51893
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_172349,   UC003MFP.2
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,491,774 - 176,492,274 (+)MPROMDB
RGD ID:6803409
Promoter ID:HG_KWN:51894
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000354179,   ENST00000361032,   OTTHUMT00000253412,   UC003MFQ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,493,031 - 176,493,577 (+)MPROMDB
RGD ID:6803090
Promoter ID:HG_KWN:51895
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000347982,   UC003MFS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,493,891 - 176,495,527 (+)MPROMDB
RGD ID:6871666
Promoter ID:EPDNEW_H8997
Type:initiation region
Name:NSD1_2
Description:nuclear receptor binding SET domain protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8998  EPDNEW_H8999  EPDNEW_H9000  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,131,798 - 177,131,858EPDNEW
RGD ID:6871668
Promoter ID:EPDNEW_H8998
Type:initiation region
Name:NSD1_4
Description:nuclear receptor binding SET domain protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8997  EPDNEW_H8999  EPDNEW_H9000  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,132,862 - 177,132,922EPDNEW
RGD ID:6871670
Promoter ID:EPDNEW_H8999
Type:initiation region
Name:NSD1_1
Description:nuclear receptor binding SET domain protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8997  EPDNEW_H8998  EPDNEW_H9000  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,133,789 - 177,133,849EPDNEW
RGD ID:6871672
Promoter ID:EPDNEW_H9000
Type:initiation region
Name:NSD1_3
Description:nuclear receptor binding SET domain protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8997  EPDNEW_H8998  EPDNEW_H8999  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,134,166 - 177,134,226EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14234 AgrOrtholog
COSMIC NSD1 COSMIC
Ensembl Genes ENSG00000165671 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000347982 ENTREZGENE
  ENST00000354179 ENTREZGENE
  ENST00000439151 ENTREZGENE
  ENST00000439151.7 UniProtKB/Swiss-Prot
  ENST00000508896 ENTREZGENE
  ENST00000687453 ENTREZGENE
  ENST00000687453.1 UniProtKB/Swiss-Prot
  ENST00000688613 ENTREZGENE
Gene3D-CATH 2.170.270.10 UniProtKB/Swiss-Prot
  2.30.30.140 UniProtKB/Swiss-Prot
  3.30.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000165671 GTEx
HGNC ID HGNC:14234 ENTREZGENE
Human Proteome Map NSD1 Human Proteome Map
InterPro AWS_dom UniProtKB/Swiss-Prot
  C5HCH UniProtKB/Swiss-Prot
  NSD_PHD UniProtKB/Swiss-Prot
  PHD1_NSD1_2 UniProtKB/Swiss-Prot
  PHD2_NSD1 UniProtKB/Swiss-Prot
  PHD3_NSD1 UniProtKB/Swiss-Prot
  PHD4_NSD1 UniProtKB/Swiss-Prot
  PHD5_NSD1 UniProtKB/Swiss-Prot
  PHDvar_NSD UniProtKB/Swiss-Prot
  Post-SET_dom UniProtKB/Swiss-Prot
  PWWP_dom UniProtKB/Swiss-Prot
  PWWP_NSD1_rpt2 UniProtKB/Swiss-Prot
  SET2_Histone-Lys_MeTrsfase UniProtKB/Swiss-Prot
  SET_dom UniProtKB/Swiss-Prot
  SET_dom_sf UniProtKB/Swiss-Prot
  SET_NSD1 UniProtKB/Swiss-Prot
  Zinc_finger_PHD-type_CS UniProtKB/Swiss-Prot
  Znf_FYVE_PHD UniProtKB/Swiss-Prot
  Znf_PHD UniProtKB/Swiss-Prot
  Znf_PHD-finger UniProtKB/Swiss-Prot
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot
KEGG Report hsa:64324 UniProtKB/Swiss-Prot
NCBI Gene 64324 ENTREZGENE
OMIM 606681 OMIM
PANTHER SET DOMAIN PROTEINS UniProtKB/Swiss-Prot
Pfam AWS UniProtKB/Swiss-Prot
  C5HCH UniProtKB/Swiss-Prot
  NSD_PHD UniProtKB/Swiss-Prot
  PHD UniProtKB/Swiss-Prot
  PHD-1st_NSD UniProtKB/Swiss-Prot
  PHDvar_NSD UniProtKB/Swiss-Prot
  PWWP UniProtKB/Swiss-Prot
  SET UniProtKB/Swiss-Prot
PharmGKB PA31790 PharmGKB
PROSITE AWS UniProtKB/Swiss-Prot
  POST_SET UniProtKB/Swiss-Prot
  PWWP UniProtKB/Swiss-Prot
  SET UniProtKB/Swiss-Prot
  ZF_PHD_1 UniProtKB/Swiss-Prot
  ZF_PHD_2 UniProtKB/Swiss-Prot
SMART AWS UniProtKB/Swiss-Prot
  PHD UniProtKB/Swiss-Prot
  PostSET UniProtKB/Swiss-Prot
  PWWP UniProtKB/Swiss-Prot
  SET UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57903 UniProtKB/Swiss-Prot
  SSF82199 UniProtKB/Swiss-Prot
  Tudor/PWWP/MBT UniProtKB/Swiss-Prot
UniProt A0A1W2PS55_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7J4_HUMAN UniProtKB/TrEMBL
  A0A3G1LEI2_HUMAN UniProtKB/TrEMBL
  A0A410SEU7_HUMAN UniProtKB/TrEMBL
  A0A6C0WF95_HUMAN UniProtKB/TrEMBL
  A0A8I5KV31_HUMAN UniProtKB/TrEMBL
  A0A8I5QJP2 ENTREZGENE, UniProtKB/TrEMBL
  A4QPE5_HUMAN UniProtKB/TrEMBL
  B2RWP5 ENTREZGENE, UniProtKB/TrEMBL
  D6RA58 ENTREZGENE
  D6RBP3_HUMAN UniProtKB/TrEMBL
  D6RG26_HUMAN UniProtKB/TrEMBL
  H7BYB0_HUMAN UniProtKB/TrEMBL
  L0R5C2_HUMAN UniProtKB/TrEMBL
  L8EAB5_HUMAN UniProtKB/TrEMBL
  NSD1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96MN8_HUMAN UniProtKB/TrEMBL
  Q96PD8 ENTREZGENE
  Q96RN7 ENTREZGENE
UniProt Secondary Q96PD8 UniProtKB/Swiss-Prot
  Q96RN7 UniProtKB/Swiss-Prot