MCPH1 (microcephalin 1) - Rat Genome Database

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Gene: MCPH1 (microcephalin 1) Homo sapiens
Analyze
Symbol: MCPH1
Name: microcephalin 1
RGD ID: 1349111
HGNC Page HGNC:6954
Description: Enables identical protein binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in extracellular exosome. Implicated in breast cancer; endometrial cancer; microcephaly; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 1. Biomarker of oral squamous cell carcinoma and renal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BRCT-repeat inhibitor of TERT expression 1; BRIT1; FLJ12847; MCT; microcephalin; microcephaly, primary autosomal recessive 1; truncated microcephalin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3886,406,627 - 6,648,508 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl86,406,592 - 6,648,508 (+)EnsemblGRCh38hg38GRCh38
GRCh3786,264,148 - 6,506,029 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3686,251,529 - 6,493,434 (+)NCBINCBI36Build 36hg18NCBI36
Build 3486,276,479 - 6,489,214NCBI
Celera86,241,660 - 6,478,643 (+)NCBICelera
Cytogenetic Map8p23.1NCBI
HuRef86,046,225 - 6,282,052 (+)NCBIHuRef
CHM1_186,352,911 - 6,590,285 (+)NCBICHM1_1
T2T-CHM13v2.086,161,207 - 6,402,976 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Deregulation of microcephalin and ASPM expression are correlated with epithelial ovarian cancer progression. Alsiary R, etal., PLoS One. 2014 May 15;9(5):e97059. doi: 10.1371/journal.pone.0097059. eCollection 2014.
2. Double strand break repair components are frequent targets of microsatellite instability in endometrial cancer. Bilbao C, etal., Eur J Cancer. 2010 Oct;46(15):2821-7. doi: 10.1016/j.ejca.2010.06.116. Epub 2010 Jul 16.
3. A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. Darvish H, etal., J Med Genet. 2010 Dec;47(12):823-8. doi: 10.1136/jmg.2009.076398. Epub 2010 Oct 26.
4. Identification of microcephalin, a protein implicated in determining the size of the human brain. Jackson AP, etal., Am J Hum Genet. 2002 Jul;71(1):136-42. Epub 2002 Jun 3.
5. MCPH1 protein expression and polymorphisms are associated with risk of breast cancer. Jo YH, etal., Gene. 2013 Apr 1;517(2):184-90. doi: 10.1016/j.gene.2012.12.088. Epub 2013 Jan 4.
6. The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation. Maghirang-Rodriguez R, etal., Am J Med Genet A. 2009 Feb 15;149A(4):622-5. doi: 10.1002/ajmg.a.32721.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. Readout of epigenetic modifications. Patel DJ and Wang Z, Annu Rev Biochem. 2013;82:81-118. doi: 10.1146/annurev-biochem-072711-165700.
9. BRIT1 regulates early DNA damage response, chromosomal integrity, and cancer. Rai R, etal., Cancer Cell. 2006 Aug;10(2):145-57. Epub 2006 Jul 27.
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. Microcephalin is a new novel prognostic indicator in breast cancer associated with BRCA1 inactivation. Richardson J, etal., Breast Cancer Res Treat. 2011 Jun;127(3):639-48. doi: 10.1007/s10549-010-1019-4. Epub 2010 Jul 15.
14. Genetic heterogeneity in Pakistani microcephaly families. Sajid Hussain M, etal., Clin Genet. 2013 May;83(5):446-51. doi: 10.1111/j.1399-0004.2012.01932.x. Epub 2012 Aug 7.
15. Mutations in microcephalin cause aberrant regulation of chromosome condensation. Trimborn M, etal., Am J Hum Genet. 2004 Aug;75(2):261-6. Epub 2004 Jun 15.
16. Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma. Venkatesh T, etal., PLoS One. 2013;8(3):e54643. doi: 10.1371/journal.pone.0054643. Epub 2013 Mar 5.
17. Primary microcephaly gene MCPH1 shows a novel molecular biomarker of human renal carcinoma and is regulated by miR-27a. Wang N, etal., Int J Clin Exp Pathol. 2014 Jul 15;7(8):4895-903. eCollection 2014.
18. DNA damage response in microcephaly development of MCPH1 mouse model. Zhou ZW, etal., DNA Repair (Amst). 2013 Aug;12(8):645-55. doi: 10.1016/j.dnarep.2013.04.017. Epub 2013 May 15.
Additional References at PubMed
PMID:9683597   PMID:11857108   PMID:12477932   PMID:12571366   PMID:12837246   PMID:14702039   PMID:15056608   PMID:15220350   PMID:15489334   PMID:16151009   PMID:16217032   PMID:16344560  
PMID:16479174   PMID:16687438   PMID:16783362   PMID:17102619   PMID:17220170   PMID:17251122   PMID:17566767   PMID:17925396   PMID:18204051   PMID:18635967   PMID:18660752   PMID:18718915  
PMID:19287395   PMID:19475667   PMID:19490893   PMID:19525936   PMID:19546241   PMID:19549900   PMID:19690177   PMID:19793310   PMID:19829069   PMID:19925808   PMID:20056645   PMID:20080800  
PMID:20101680   PMID:20107607   PMID:20301772   PMID:20379614   PMID:20485444   PMID:20508983   PMID:20602615   PMID:20949544   PMID:21150325   PMID:21297427   PMID:21515671   PMID:21799462  
PMID:21873635   PMID:21911480   PMID:21934293   PMID:21988832   PMID:21993531   PMID:22136275   PMID:22139841   PMID:22154951   PMID:22219182   PMID:22240313   PMID:22908299   PMID:22952573  
PMID:23001041   PMID:23117476   PMID:23455924   PMID:23575222   PMID:23587236   PMID:23695280   PMID:23697381   PMID:23729656   PMID:23815819   PMID:23866422   PMID:23908141   PMID:23958183  
PMID:23983231   PMID:24013099   PMID:24080358   PMID:24148351   PMID:24288161   PMID:24460291   PMID:24483146   PMID:24507884   PMID:24560403   PMID:24633962   PMID:24780602   PMID:24975899  
PMID:24995331   PMID:25008867   PMID:25150861   PMID:25301947   PMID:25465325   PMID:25504234   PMID:25548773   PMID:25703238   PMID:25733871   PMID:25845520   PMID:25870538   PMID:25950475  
PMID:25951892   PMID:26165835   PMID:26186194   PMID:26192461   PMID:26205471   PMID:26626498   PMID:26651848   PMID:26683461   PMID:26820313   PMID:26870219   PMID:26912502   PMID:27718016  
PMID:28004384   PMID:28514442   PMID:28611215   PMID:29026105   PMID:29150431   PMID:29507755   PMID:29656893   PMID:29676528   PMID:29860064   PMID:30337515   PMID:30351297   PMID:30804502  
PMID:30809794   PMID:30859703   PMID:30964711   PMID:32276518   PMID:32294449   PMID:32556427   PMID:32642299   PMID:32681070   PMID:32735676   PMID:33006227   PMID:33203878   PMID:33961781  
PMID:34191836   PMID:34705666   PMID:35156780   PMID:35281599   PMID:35456440   PMID:35944360   PMID:36042349  


Genomics

Comparative Map Data
MCPH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3886,406,627 - 6,648,508 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl86,406,592 - 6,648,508 (+)EnsemblGRCh38hg38GRCh38
GRCh3786,264,148 - 6,506,029 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3686,251,529 - 6,493,434 (+)NCBINCBI36Build 36hg18NCBI36
Build 3486,276,479 - 6,489,214NCBI
Celera86,241,660 - 6,478,643 (+)NCBICelera
Cytogenetic Map8p23.1NCBI
HuRef86,046,225 - 6,282,052 (+)NCBIHuRef
CHM1_186,352,911 - 6,590,285 (+)NCBICHM1_1
T2T-CHM13v2.086,161,207 - 6,402,976 (+)NCBIT2T-CHM13v2.0
Mcph1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39818,645,132 - 18,858,110 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl818,645,147 - 18,853,205 (+)EnsemblGRCm39 Ensembl
GRCm38818,595,116 - 18,808,089 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl818,595,131 - 18,803,189 (+)EnsemblGRCm38mm10GRCm38
MGSCv37818,595,173 - 18,803,189 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36818,595,150 - 18,803,166 (+)NCBIMGSCv36mm8
Celera818,728,614 - 18,936,696 (+)NCBICelera
Cytogenetic Map8A1.3NCBI
cM Map810.24NCBI
Mcph1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81677,724,251 - 77,926,773 (-)NCBIGRCr8
mRatBN7.21671,021,855 - 71,224,067 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1671,024,588 - 71,224,122 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01675,904,087 - 76,110,624 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1675,904,006 - 76,110,553 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01675,508,903 - 75,716,058 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41675,839,877 - 76,026,968 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1668,871,372 - 69,069,330 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
Mcph1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540354,143,454 - 54,273,201 (-)NCBIChiLan1.0ChiLan1.0
MCPH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2721,203,748 - 21,473,839 (+)NCBINHGRI_mPanPan1-v2
Mhudiblu_PPA_v08624,877 - 877,839 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.186,409,072 - 6,651,846 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl86,409,072 - 6,646,394 (+)Ensemblpanpan1.1panPan2
MCPH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11658,306,761 - 58,529,090 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1658,295,280 - 58,529,433 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1653,827,270 - 54,059,123 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01657,520,814 - 57,753,393 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1657,520,814 - 57,753,412 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11658,441,000 - 58,688,068 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01655,530,366 - 55,762,093 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01655,905,580 - 56,138,767 (-)NCBIUU_Cfam_GSD_1.0
Mcph1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049434,386,615 - 4,580,738 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366154,386,635 - 4,580,747 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366154,386,667 - 4,580,720 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MCPH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1537,455,551 - 37,673,633 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11537,455,186 - 37,674,971 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21542,711,671 - 42,747,818 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MCPH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.186,190,272 - 6,425,683 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl86,190,047 - 6,425,131 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605448,304,204 - 48,541,439 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mcph1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248614,373,743 - 4,556,933 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MCPH1
977 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024596.5(MCPH1):c.1244A>C (p.Tyr415Ser) single nucleotide variant not provided [RCV000521381] Chr8:6444966 [GRCh38]
Chr8:6302487 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.566dup (p.Asn189fs) duplication Microcephaly 1, primary, autosomal recessive [RCV000023614]|not provided [RCV002286697] Chr8:6439078..6439079 [GRCh38]
Chr8:6296599..6296600 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.147C>G (p.His49Gln) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000023615] Chr8:6414797 [GRCh38]
Chr8:6272318 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000023616]|See cases [RCV002287342] Chr8:6414865 [GRCh38]
Chr8:6272386 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.302C>G (p.Ser101Ter) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000023617]|not provided [RCV002513198] Chr8:6431567 [GRCh38]
Chr8:6289088 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000020900]|not provided [RCV001539339]|not specified [RCV000146305] Chr8:6621521 [GRCh38]
Chr8:6479042 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000020901]|not provided [RCV001711083]|not specified [RCV000146321] Chr8:6643023 [GRCh38]
Chr8:6500544 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.80C>G (p.Thr27Arg) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000020902] Chr8:6409336 [GRCh38]
Chr8:6266857 [GRCh37]
Chr8:8p23.1		 pathogenic|not provided
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000020903]|not provided [RCV001594818]|not specified [RCV000146337] Chr8:6444662 [GRCh38]
Chr8:6302183 [GRCh37]
Chr8:8p23.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000003618]|not provided [RCV003555906] Chr8:6409330 [GRCh38]
Chr8:6266851 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) duplication Abnormal brain morphology [RCV000454240]|Microcephaly 1, primary, autosomal recessive [RCV000003619] Chr8:6436147..6436148 [GRCh38]
Chr8:6293668..6293669 [GRCh37]
Chr8:8p23.1		 pathogenic|likely pathogenic
NC_000008.10:g.(?_6264113)_(6296618_6299587)del deletion Microcephaly 1, primary, autosomal recessive [RCV000003620] Chr8:6406592..6439097 [GRCh38]
Chr8:6264113..6296618 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.1661A>T (p.Glu554Val) single nucleotide variant Inborn genetic diseases [RCV002533083]|not provided [RCV000728149] Chr8:6445383 [GRCh38]
Chr8:6302904 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.*3351G>A single nucleotide variant not provided [RCV001564457] Chr8:6499750 [GRCh38]
Chr8:6357271 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.928G>A (p.Val310Ile) single nucleotide variant not provided [RCV000727635] Chr8:6444650 [GRCh38]
Chr8:6302171 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.616A>G (p.Ser206Gly) single nucleotide variant not provided [RCV000729008] Chr8:6442102 [GRCh38]
Chr8:6299623 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1681del (p.Thr561fs) deletion Inborn genetic diseases [RCV002536422]|not provided [RCV000729009] Chr8:6445403 [GRCh38]
Chr8:6302924 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1864G>T (p.Asp622Tyr) single nucleotide variant not provided [RCV000727634] Chr8:6455181 [GRCh38]
Chr8:6312702 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1408A>G (p.Thr470Ala) single nucleotide variant not provided [RCV000522678] Chr8:6445130 [GRCh38]
Chr8:6302651 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.149_151delinsGTG (p.Val50_Ile51delinsGlyVal) indel not provided [RCV000521627] Chr8:6414799..6414801 [GRCh38]
Chr8:6272320..6272322 [GRCh37]
Chr8:8p23.1		 likely pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000050621] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1 copy number loss See cases [RCV000050427] Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 8p23.2-23.1(chr8:4975829-7022841)x3 copy number gain See cases [RCV000051073] Chr8:4975829..7022841 [GRCh38]
Chr8:4833351..6880363 [GRCh37]
Chr8:4820759..6867773 [NCBI36]
Chr8:8p23.2-23.1		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:6391161-6451673)x1 copy number loss See cases [RCV000052751] Chr8:6391161..6451673 [GRCh38]
Chr8:6248682..6309194 [GRCh37]
Chr8:6236090..6296602 [NCBI36]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:2475295-7895064)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|See cases [RCV000053605] Chr8:2475295..7895064 [GRCh38]
Chr8:2292235..7752586 [GRCh37]
Chr8:2193565..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3 copy number gain See cases [RCV000053600] Chr8:96310..12021806 [GRCh38]
Chr8:46310..11879315 [GRCh37]
Chr8:36310..11916724 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3 copy number gain See cases [RCV000053601] Chr8:219853..10165486 [GRCh38]
Chr8:169853..10022996 [GRCh37]
Chr8:159853..10060406 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1 copy number loss See cases [RCV000054206] Chr8:219853..7084815 [GRCh38]
Chr8:169853..6942337 [GRCh37]
Chr8:159853..6929747 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1 copy number loss See cases [RCV000054219] Chr8:241530..7195723 [GRCh38]
Chr8:191530..7053245 [GRCh37]
Chr8:181530..7040655 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.991C>T (p.Arg331Cys) single nucleotide variant not provided [RCV001963765] Chr8:6444713 [GRCh38]
Chr8:6302234 [GRCh37]
Chr8:6289642 [NCBI36]
Chr8:8p23.1		 uncertain significance|not provided
NM_024596.5(MCPH1):c.167A>G (p.Tyr56Cys) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000660389] Chr8:6414817 [GRCh38]
Chr8:6272338 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000603959]|not provided [RCV001664382]|not specified [RCV000082198] Chr8:6444897 [GRCh38]
Chr8:6302418 [GRCh37]
Chr8:8p23.1		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=) single nucleotide variant not provided [RCV000899683]|not specified [RCV000082199] Chr8:6444958 [GRCh38]
Chr8:6302479 [GRCh37]
Chr8:8p23.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000382916]|not provided [RCV001711258]|not specified [RCV000082200] Chr8:6445150 [GRCh38]
Chr8:6302671 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146274]|not provided [RCV000971322]|not specified [RCV000082201] Chr8:6445217 [GRCh38]
Chr8:6302738 [GRCh37]
Chr8:8p23.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024596.5(MCPH1):c.513= (p.Arg171=) single nucleotide variant not provided [RCV000712277]|not specified [RCV000194980] Chr8:6439029 [GRCh38]
Chr8:6296550 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001163017]|not provided [RCV000514348]|not specified [RCV000146280] Chr8:6445460 [GRCh38]
Chr8:6302981 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_001118887.2(ANGPT2):c.994G>A (p.Val332Ile) single nucleotide variant not provided [RCV000514159] Chr8:6514712 [GRCh38]
Chr8:6372233 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly) single nucleotide variant MCPH1-related condition [RCV003977449]|Microcephaly 1, primary, autosomal recessive [RCV000316152]|not provided [RCV000904963]|not specified [RCV000177335] Chr8:6414832 [GRCh38]
Chr8:6272353 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000270996]|Short stature [RCV001270063]|not provided [RCV000656854] Chr8:6499895 [GRCh38]
Chr8:6357416 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.2077C>T (p.Arg693Cys) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001165107]|not provided [RCV000174166] Chr8:6480817 [GRCh38]
Chr8:6338338 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.2453-12CT[4] microsatellite not provided [RCV000174797] Chr8:6642982..6642983 [GRCh38]
Chr8:6500503..6500504 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2434T>C (p.Ser812Pro) single nucleotide variant not provided [RCV000174600] Chr8:6621673 [GRCh38]
Chr8:6479194 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1061T>C (p.Val354Ala) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146268]|not provided [RCV000907506] Chr8:6444783 [GRCh38]
Chr8:6302304 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.1113C>T (p.Cys371=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146269]|not provided [RCV003764888] Chr8:6444835 [GRCh38]
Chr8:6302356 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.1189G>A (p.Val397Met) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146270]|not provided [RCV002515966] Chr8:6444911 [GRCh38]
Chr8:6302432 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146271]|not provided [RCV000279928] Chr8:6444995 [GRCh38]
Chr8:6302516 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146272]|not provided [RCV000371509] Chr8:6414778 [GRCh38]
Chr8:6272299 [GRCh37]
Chr8:8p23.1		 likely pathogenic|uncertain significance
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) single nucleotide variant MCPH1-related condition [RCV003952701]|Microcephaly 1, primary, autosomal recessive [RCV000146273]|not provided [RCV000498490]|not specified [RCV001172454] Chr8:6445073 [GRCh38]
Chr8:6302594 [GRCh37]
Chr8:8p23.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.1616A>G (p.Asp539Gly) single nucleotide variant MCPH1-related condition [RCV003965103]|Microcephaly 1, primary, autosomal recessive [RCV000146275]|not provided [RCV000920682] Chr8:6445338 [GRCh38]
Chr8:6302859 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146276]|not provided [RCV000523239] Chr8:6445401 [GRCh38]
Chr8:6302922 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146277]|not provided [RCV000914780]|not specified [RCV001172455] Chr8:6445438 [GRCh38]
Chr8:6302959 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000294437]|not provided [RCV000712274]|not specified [RCV000146278] Chr8:6445441 [GRCh38]
Chr8:6302962 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000349328]|not provided [RCV001650999]|not specified [RCV000146279] Chr8:6445450 [GRCh38]
Chr8:6302971 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.1742A>G (p.Glu581Gly) single nucleotide variant Inborn genetic diseases [RCV002514818]|Microcephaly 1, primary, autosomal recessive [RCV000146281] Chr8:6445464 [GRCh38]
Chr8:6302985 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1782G>A (p.Thr594=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000336395]|not provided [RCV001610447]|not specified [RCV000146282] Chr8:6445504 [GRCh38]
Chr8:6303025 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.1806A>C (p.Leu602Phe) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146283] Chr8:6445528 [GRCh38]
Chr8:6303049 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000306064]|not provided [RCV000967076]|not specified [RCV000146284] Chr8:6455162 [GRCh38]
Chr8:6312683 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) deletion Autosomal recessive primary microcephaly [RCV003486664]|Microcephaly 1, primary, autosomal recessive [RCV000146285] Chr8:6455186..6455187 [GRCh38]
Chr8:6312707..6312708 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.1936-10A>G single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146286]|not provided [RCV003698746] Chr8:6477584 [GRCh38]
Chr8:6335105 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.1936-43T>G single nucleotide variant not provided [RCV001689686]|not specified [RCV000146287] Chr8:6477551 [GRCh38]
Chr8:6335072 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.1951G>A (p.Val651Ile) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146288]|not provided [RCV000915010] Chr8:6477609 [GRCh38]
Chr8:6335130 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000301716]|not provided [RCV001539042]|not specified [RCV000146289] Chr8:6480785 [GRCh38]
Chr8:6338306 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_001118887.2(ANGPT2):c.1104T>C (p.Tyr368=) single nucleotide variant not specified [RCV000146290] Chr8:6513770 [GRCh38]
Chr8:6371291 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.1092T>C (p.Asn364=) single nucleotide variant not specified [RCV000146291] Chr8:6513782 [GRCh38]
Chr8:6371303 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.879G>A (p.Thr293=) single nucleotide variant not specified [RCV000146292] Chr8:6519912 [GRCh38]
Chr8:6377433 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.735G>A (p.Gln245=) single nucleotide variant not specified [RCV000146293] Chr8:6521242 [GRCh38]
Chr8:6378763 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.408G>T (p.Ala136=) single nucleotide variant not specified [RCV000146294] Chr8:6532368 [GRCh38]
Chr8:6389889 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.408G>C (p.Ala136=) single nucleotide variant not specified [RCV000146295] Chr8:6532368 [GRCh38]
Chr8:6389889 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.2214C>T (p.Pro738=) single nucleotide variant Inborn genetic diseases [RCV002512578]|Microcephaly 1, primary, autosomal recessive [RCV000146296] Chr8:6499929 [GRCh38]
Chr8:6357450 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2215-15C>G single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000344601]|not provided [RCV001711406]|not specified [RCV000146297] Chr8:6621439 [GRCh38]
Chr8:6478960 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.2215-19A>G single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000602208]|not provided [RCV001711407]|not specified [RCV000146298] Chr8:6621435 [GRCh38]
Chr8:6478956 [GRCh37]
Chr8:8p23.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000610370]|not provided [RCV001689687]|not specified [RCV000146299] Chr8:6621465 [GRCh38]
Chr8:6478986 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2256C>G (p.Arg752=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146300]|not provided [RCV003764889] Chr8:6621495 [GRCh38]
Chr8:6479016 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=) single nucleotide variant MCPH1-related condition [RCV003927434]|not provided [RCV000963902]|not specified [RCV000146301] Chr8:6621495 [GRCh38]
Chr8:6479016 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_024596.5(MCPH1):c.2257G>C (p.Gly753Arg) single nucleotide variant Inborn genetic diseases [RCV002514819]|Microcephaly 1, primary, autosomal recessive [RCV000146302] Chr8:6621496 [GRCh38]
Chr8:6479017 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2282C>A (p.Ala761Glu) single nucleotide variant not specified [RCV000146303] Chr8:6621521 [GRCh38]
Chr8:6479042 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2282C>G (p.Ala761Gly) single nucleotide variant not specified [RCV000146304] Chr8:6621521 [GRCh38]
Chr8:6479042 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2288T>C (p.Phe763Ser) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146306] Chr8:6621527 [GRCh38]
Chr8:6479048 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.228G>T (p.Val76=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000601335]|not provided [RCV001640181]|not specified [RCV000146307] Chr8:6414878 [GRCh38]
Chr8:6272399 [GRCh37]
Chr8:8p23.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024596.5(MCPH1):c.2295G>A (p.Ser765=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000405523]|not provided [RCV002055900]|not specified [RCV000146308] Chr8:6621534 [GRCh38]
Chr8:6479055 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_024596.5(MCPH1):c.23-15A>G single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000321915]|not provided [RCV002055901]|not specified [RCV000146309] Chr8:6409264 [GRCh38]
Chr8:6266785 [GRCh37]
Chr8:8p23.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.23-26G>A single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001775631]|not provided [RCV001636684]|not specified [RCV000146310] Chr8:6409253 [GRCh38]
Chr8:6266774 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.2400C>T (p.Tyr800=) single nucleotide variant MCPH1-related condition [RCV003917445]|Microcephaly 1, primary, autosomal recessive [RCV000356194]|not provided [RCV000963644]|not specified [RCV000146311] Chr8:6621639 [GRCh38]
Chr8:6479160 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000406344]|not provided [RCV000488119]|not specified [RCV000174601] Chr8:6621640 [GRCh38]
Chr8:6479161 [GRCh37]
Chr8:8p23.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000602659]|not provided [RCV001711305]|not specified [RCV000146313] Chr8:6621657 [GRCh38]
Chr8:6479178 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2429A>G (p.Tyr810Cys) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146314] Chr8:6621668 [GRCh38]
Chr8:6479189 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2452+49C>G single nucleotide variant not specified [RCV000146315] Chr8:6621740 [GRCh38]
Chr8:6479261 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2452+9C>A single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146316]|not provided [RCV002055902] Chr8:6621700 [GRCh38]
Chr8:6479221 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.2453-13G>A single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001161833]|not provided [RCV001610448]|not specified [RCV000146317] Chr8:6642981 [GRCh38]
Chr8:6500502 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.2453-14C>T single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146318]|not provided [RCV002055903]|not specified [RCV000422588] Chr8:6642980 [GRCh38]
Chr8:6500501 [GRCh37]
Chr8:8p23.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.2453-1G>C single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146319]|not provided [RCV000171411] Chr8:6642993 [GRCh38]
Chr8:6500514 [GRCh37]
Chr8:8p23.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024596.5(MCPH1):c.2466G>A (p.Gln822=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146320]|not provided [RCV000969953] Chr8:6643007 [GRCh38]
Chr8:6500528 [GRCh37]
Chr8:8p23.1		 benign|uncertain significance
NM_024596.5(MCPH1):c.2487A>C (p.Glu829Asp) single nucleotide variant not provided [RCV003546478]|not specified [RCV000146322] Chr8:6643028 [GRCh38]
Chr8:6500549 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2499G>T (p.Leu833Phe) single nucleotide variant Inborn genetic diseases [RCV003298149]|Microcephaly 1, primary, autosomal recessive [RCV000146323]|not provided [RCV002514820] Chr8:6643040 [GRCh38]
Chr8:6500561 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146324] Chr8:6431543 [GRCh38]
Chr8:6289064 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr) single nucleotide variant MCPH1-related condition [RCV003975153]|not provided [RCV000826945]|not specified [RCV000337084] Chr8:6431570 [GRCh38]
Chr8:6289091 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.433C>G (p.Leu145Val) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146326]|not provided [RCV001849984] Chr8:6436159 [GRCh38]
Chr8:6293680 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) single nucleotide variant MCPH1-related condition [RCV003905268]|Microcephaly 1, primary, autosomal recessive [RCV000146327]|not provided [RCV000949942]|not specified [RCV000179528] Chr8:6438993 [GRCh38]
Chr8:6296514 [GRCh37]
Chr8:8p23.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.614C>T (p.Pro205Leu) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146328] Chr8:6442100 [GRCh38]
Chr8:6299621 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000296022]|not provided [RCV000712278]|not specified [RCV000146329] Chr8:6442120 [GRCh38]
Chr8:6299641 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr) single nucleotide variant MCPH1-related condition [RCV003945170]|Microcephaly 1, primary, autosomal recessive [RCV000350745]|not provided [RCV000953576]|not specified [RCV000146330] Chr8:6442133 [GRCh38]
Chr8:6299654 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_024596.5(MCPH1):c.670+31G>A single nucleotide variant not specified [RCV000146331] Chr8:6442187 [GRCh38]
Chr8:6299708 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.790A>G (p.Ile264Val) single nucleotide variant MCPH1-related condition [RCV003975154]|Microcephaly 1, primary, autosomal recessive [RCV000311124]|not provided [RCV000992298]|not specified [RCV000146332] Chr8:6444512 [GRCh38]
Chr8:6302033 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.863C>A (p.Pro288His) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000356618]|not provided [RCV000712279]|not specified [RCV000146333] Chr8:6444585 [GRCh38]
Chr8:6302106 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.867G>A (p.Gln289=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146334]|not provided [RCV000905726]|not specified [RCV000600133] Chr8:6444589 [GRCh38]
Chr8:6302110 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.898A>G (p.Ile300Val) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000146335]|not provided [RCV003718121] Chr8:6444620 [GRCh38]
Chr8:6302141 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000607299]|not provided [RCV001668293]|not specified [RCV000146336] Chr8:6444633 [GRCh38]
Chr8:6302154 [GRCh37]
Chr8:8p23.1		 benign|likely benign
GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1 copy number loss See cases [RCV000135293] Chr8:410369..7477103 [GRCh38]
Chr8:360369..7334625 [GRCh37]
Chr8:350369..7322035 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1 copy number loss See cases [RCV000134879] Chr8:241530..10191595 [GRCh38]
Chr8:191530..10049105 [GRCh37]
Chr8:181530..10086515 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3 copy number gain See cases [RCV000135437] Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1 copy number loss See cases [RCV000135534] Chr8:241530..10867132 [GRCh38]
Chr8:191530..10724642 [GRCh37]
Chr8:181530..10762052 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3 copy number gain See cases [RCV000135993] Chr8:241605..7022824 [GRCh38]
Chr8:191605..6880346 [GRCh37]
Chr8:181605..6867756 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1 copy number loss See cases [RCV000135994] Chr8:241605..7022824 [GRCh38]
Chr8:191605..6880346 [GRCh37]
Chr8:181605..6867756 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1 copy number loss See cases [RCV000136824] Chr8:241530..7056554 [GRCh38]
Chr8:191530..6914076 [GRCh37]
Chr8:181530..6901486 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3 copy number gain See cases [RCV000137984] Chr8:226452..12712987 [GRCh38]
Chr8:176452..12570496 [GRCh37]
Chr8:166452..12614867 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3 copy number gain See cases [RCV000138228] Chr8:226452..7981437 [GRCh38]
Chr8:176452..7838959 [GRCh37]
Chr8:166452..7876369 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely benign
GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1 copy number loss See cases [RCV000139342] Chr8:226452..7062751 [GRCh38]
Chr8:176452..6920273 [GRCh37]
Chr8:166452..6907683 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1 copy number loss See cases [RCV000139442] Chr8:226452..7084815 [GRCh38]
Chr8:176452..6942337 [GRCh37]
Chr8:166452..6929747 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1 copy number loss See cases [RCV000138943] Chr8:3934205..11526939 [GRCh38]
Chr8:3791727..11384448 [GRCh37]
Chr8:3779135..11421857 [NCBI36]
Chr8:8p23.2-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1 copy number loss See cases [RCV000140443] Chr8:208048..7124466 [GRCh38]
Chr8:158048..6981988 [GRCh37]
Chr8:148048..6969398 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1 copy number loss See cases [RCV000139890] Chr8:208048..7141592 [GRCh38]
Chr8:158048..6999114 [GRCh37]
Chr8:148048..6986524 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.2-23.1(chr8:2605460-6605579)x3 copy number gain See cases [RCV000139540] Chr8:2605460..6605579 [GRCh38]
Chr8:2498609..6463100 [GRCh37]
Chr8:2421129..6450508 [NCBI36]
Chr8:8p23.2-23.1		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1(chr8:6303909-6412405)x3 copy number gain See cases [RCV000141315] Chr8:6303909..6412405 [GRCh38]
Chr8:6161430..6269926 [GRCh37]
Chr8:6148838..6257334 [NCBI36]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 copy number gain See cases [RCV000141418] Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.2-23.1(chr8:2605460-7026475)x3 copy number gain See cases [RCV000140846] Chr8:2605460..7026475 [GRCh38]
Chr8:2498609..6883997 [GRCh37]
Chr8:2393844..6871407 [NCBI36]
Chr8:8p23.2-23.1		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:6356671-6733232)x1 copy number loss See cases [RCV000141798] Chr8:6356671..6733232 [GRCh38]
Chr8:6214192..6590753 [GRCh37]
Chr8:6201600..6578161 [NCBI36]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1 copy number loss See cases [RCV000142596] Chr8:241530..10458484 [GRCh38]
Chr8:191530..10315994 [GRCh37]
Chr8:181530..10353404 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3 copy number gain See cases [RCV000143378] Chr8:208048..7141698 [GRCh38]
Chr8:158048..6999220 [GRCh37]
Chr8:148048..6986630 [NCBI36]
Chr8:8p23.3-23.1		 uncertain significance
GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3 copy number gain See cases [RCV000143248] Chr8:226452..12698554 [GRCh38]
Chr8:176452..12556063 [GRCh37]
Chr8:166452..12600434 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4 copy number gain See cases [RCV000143758] Chr8:208048..7186524 [GRCh38]
Chr8:158048..7044046 [GRCh37]
Chr8:148048..7031456 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1 copy number loss See cases [RCV000143507] Chr8:208048..7087252 [GRCh38]
Chr8:158048..6944774 [GRCh37]
Chr8:148048..6932184 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1 copy number loss See cases [RCV000148128] Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000148253] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
NM_024596.5(MCPH1):c.297C>T (p.His99=) single nucleotide variant not provided [RCV000723760]|not specified [RCV000153476] Chr8:6431562 [GRCh38]
Chr8:6289083 [GRCh37]
Chr8:8p23.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) single nucleotide variant MCPH1-related condition [RCV003952750]|Microcephaly 1, primary, autosomal recessive [RCV000320728]|not provided [RCV000723900]|not specified [RCV000153481] Chr8:6436159 [GRCh38]
Chr8:6293680 [GRCh37]
Chr8:8p23.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.2108G>A (p.Arg703His) single nucleotide variant Inborn genetic diseases [RCV002514958]|Microcephaly 1, primary, autosomal recessive [RCV000766031]|not provided [RCV000153482] Chr8:6480848 [GRCh38]
Chr8:6338369 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.3(MCPH1):c.1_114del deletion Global developmental delay [RCV000162146]   likely pathogenic
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) single nucleotide variant not provided [RCV000726801]|not specified [RCV000192941] Chr8:6445180 [GRCh38]
Chr8:6302701 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) single nucleotide variant Inborn genetic diseases [RCV002517951]|Microcephaly 1, primary, autosomal recessive [RCV001161371]|not provided [RCV000766670]|not specified [RCV000193214] Chr8:6442150 [GRCh38]
Chr8:6299671 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn) single nucleotide variant MCPH1-related condition [RCV003927791]|Microcephaly 1, primary, autosomal recessive [RCV000766028]|not provided [RCV001852561]|not specified [RCV000193801] Chr8:6444908 [GRCh38]
Chr8:6302429 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) single nucleotide variant Intellectual disability [RCV001251832]|Microcephaly 1, primary, autosomal recessive [RCV000766027]|not provided [RCV000992297]|not specified [RCV000194036] Chr8:6444505 [GRCh38]
Chr8:6302026 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001164997]|not provided [RCV000919165]|not specified [RCV000194732] Chr8:6444915 [GRCh38]
Chr8:6302436 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000290144]|not provided [RCV000179527] Chr8:6438961 [GRCh38]
Chr8:6296482 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) single nucleotide variant not provided [RCV000180367]|not specified [RCV001818445] Chr8:6445202 [GRCh38]
Chr8:6302723 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.974C>T (p.Thr325Met) single nucleotide variant Inborn genetic diseases [RCV002515292]|not provided [RCV000180368] Chr8:6444696 [GRCh38]
Chr8:6302217 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000273175]|not provided [RCV000180369] Chr8:6445091 [GRCh38]
Chr8:6302612 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3 copy number gain See cases [RCV000240124] Chr8:158991..13304906 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.1(chr8:6263102-6500749)x3 copy number gain See cases [RCV000240042] Chr8:6263102..6500749 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=) single nucleotide variant not provided [RCV002056994]|not specified [RCV000194160] Chr8:6621513 [GRCh38]
Chr8:6479034 [GRCh37]
Chr8:8p23.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000008.10:g.(6060654_6061169)_(6310738_6317266)del deletion Microcephaly 1, primary, autosomal recessive [RCV000190354] Chr8:6203648..6453217 [GRCh38]
Chr8:6061169..6310738 [GRCh37]
Chr8:8p23.2-23.1		 pathogenic
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000258423]|not provided [RCV000592127] Chr8:6445283 [GRCh38]
Chr8:6302804 [GRCh37]
Chr8:8p23.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6944233)x1 copy number loss See cases [RCV000446038] Chr8:158048..6944233 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.313A>T (p.Lys105Ter) single nucleotide variant not provided [RCV000579173] Chr8:6431578 [GRCh38]
Chr8:6289099 [GRCh37]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3 copy number gain See cases [RCV000239409] Chr8:164984..11860845 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) single nucleotide variant Autosomal recessive primary microcephaly [RCV001844112]|Intellectual disability [RCV001251830]|MCPH1-related condition [RCV003947899]|Microcephaly 1, primary, autosomal recessive [RCV000351713]|not provided [RCV000481434] Chr8:6499860 [GRCh38]
Chr8:6357381 [GRCh37]
Chr8:8p23.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:190822-6735381)x1 copy number loss See cases [RCV000240454] Chr8:190822..6735381 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.*38C>G single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000267244] Chr8:6643087 [GRCh38]
Chr8:6500608 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000764776]|not provided [RCV000712276] Chr8:6621634 [GRCh38]
Chr8:6479155 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.115-14C>T single nucleotide variant MCPH1-related condition [RCV003970067]|Microcephaly 1, primary, autosomal recessive [RCV000267994]|not provided [RCV002058743]|not specified [RCV000426855] Chr8:6414751 [GRCh38]
Chr8:6272272 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_024596.5(MCPH1):c.285T>C (p.Asn95=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000284431]|not provided [RCV000913065] Chr8:6431550 [GRCh38]
Chr8:6289071 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.*181C>G single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000271067]|not provided [RCV001672707] Chr8:6643230 [GRCh38]
Chr8:6500751 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.*199G>A single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000326096]|not provided [RCV001555398] Chr8:6643248 [GRCh38]
Chr8:6500769 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.2294C>G (p.Ser765Trp) single nucleotide variant Inborn genetic diseases [RCV002523694]|Microcephaly 1, primary, autosomal recessive [RCV000349994]|not provided [RCV002523695] Chr8:6621533 [GRCh38]
Chr8:6479054 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) single nucleotide variant MCPH1-related condition [RCV003950289]|Microcephaly 1, primary, autosomal recessive [RCV000328196]|not provided [RCV000930721]|not specified [RCV000504368] Chr8:6445125 [GRCh38]
Chr8:6302646 [GRCh37]
Chr8:8p23.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.1729G>A (p.Glu577Lys) single nucleotide variant Inborn genetic diseases [RCV002524574]|Microcephaly 1, primary, autosomal recessive [RCV000375921] Chr8:6445451 [GRCh38]
Chr8:6302972 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.*277A>C single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000380687] Chr8:6643326 [GRCh38]
Chr8:6500847 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.869A>T (p.Lys290Ile) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000402765]|not provided [RCV002058744] Chr8:6444591 [GRCh38]
Chr8:6302112 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.*502T>C single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000292359] Chr8:6643551 [GRCh38]
Chr8:6501072 [GRCh37]
Chr8:8p23.1		 benign|uncertain significance
NM_024596.5(MCPH1):c.1987G>A (p.Val663Ile) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000404524] Chr8:6480727 [GRCh38]
Chr8:6338248 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1825+14C>G single nucleotide variant MCPH1-related condition [RCV003902420]|Microcephaly 1, primary, autosomal recessive [RCV000405395]|not provided [RCV002523691] Chr8:6445561 [GRCh38]
Chr8:6303082 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.1291C>T (p.Pro431Ser) single nucleotide variant Inborn genetic diseases [RCV003258798]|Microcephaly 1, primary, autosomal recessive [RCV000358527]|not provided [RCV001861328] Chr8:6445013 [GRCh38]
Chr8:6302534 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.114+6A>G single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000360238] Chr8:6409376 [GRCh38]
Chr8:6266897 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.*457C>G single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000386599] Chr8:6643506 [GRCh38]
Chr8:6501027 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.*285G>A single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000295880] Chr8:6643334 [GRCh38]
Chr8:6500855 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.-41A>C single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000264295] Chr8:6406627 [GRCh38]
Chr8:6264148 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1779G>C (p.Glu593Asp) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000281431]|not provided [RCV003114517] Chr8:6445501 [GRCh38]
Chr8:6303022 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.605A>G (p.His202Arg) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000391561] Chr8:6442091 [GRCh38]
Chr8:6299612 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000342184]|not provided [RCV002058745]|not specified [RCV003151048] Chr8:6455193 [GRCh38]
Chr8:6312714 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_024596.5(MCPH1):c.90A>G (p.Thr30=) single nucleotide variant not provided [RCV000306170] Chr8:6409346 [GRCh38]
Chr8:6266867 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.530A>C (p.Glu177Ala) single nucleotide variant not provided [RCV000375188] Chr8:6439046 [GRCh38]
Chr8:6296567 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1781C>T (p.Thr594Met) single nucleotide variant MCPH1-related condition [RCV003930118]|not provided [RCV000901631]|not specified [RCV000347342] Chr8:6445503 [GRCh38]
Chr8:6303024 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001162916]|not provided [RCV000712280]|not specified [RCV000385537] Chr8:6444711 [GRCh38]
Chr8:6302232 [GRCh37]
Chr8:8p23.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024596.5(MCPH1):c.775A>C (p.Lys259Gln) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000766026]|not provided [RCV000386345] Chr8:6444497 [GRCh38]
Chr8:6302018 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2136G>T (p.Trp712Cys) single nucleotide variant not provided [RCV000296048]|not specified [RCV001820806] Chr8:6480876 [GRCh38]
Chr8:6338397 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.701C>G (p.Ser234Cys) single nucleotide variant not provided [RCV000367445] Chr8:6444423 [GRCh38]
Chr8:6301944 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001163018]|not provided [RCV000335001] Chr8:6445474 [GRCh38]
Chr8:6302995 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.954T>C (p.Ala318=) single nucleotide variant not provided [RCV000596335] Chr8:6444676 [GRCh38]
Chr8:6302197 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.2309C>T (p.Pro770Leu) single nucleotide variant not provided [RCV000490102] Chr8:6621548 [GRCh38]
Chr8:6479069 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.*412C>T single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000332168] Chr8:6643461 [GRCh38]
Chr8:6500982 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.*181_*184del deletion Primary Microcephaly, Recessive [RCV000365757] Chr8:6643227..6643230 [GRCh38]
Chr8:6500748..6500751 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.437-15T>C single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000384570] Chr8:6438938 [GRCh38]
Chr8:6296459 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.706G>C (p.Asp236His) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000403628] Chr8:6444428 [GRCh38]
Chr8:6301949 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1677A>G (p.Lys559=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000334222]|not provided [RCV003669144] Chr8:6445399 [GRCh38]
Chr8:6302920 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.*86A>G single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000322414] Chr8:6643135 [GRCh38]
Chr8:6500656 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.23-9T>G single nucleotide variant not provided [RCV000598019] Chr8:6409270 [GRCh38]
Chr8:6266791 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.671-3C>T single nucleotide variant MCPH1-related condition [RCV003962679]|not provided [RCV000593095] Chr8:6444390 [GRCh38]
Chr8:6301911 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=) single nucleotide variant not provided [RCV000591444] Chr8:6445165 [GRCh38]
Chr8:6302686 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.932T>G (p.Val311Gly) single nucleotide variant not provided [RCV000598224] Chr8:6444654 [GRCh38]
Chr8:6302175 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.-10G>C single nucleotide variant not provided [RCV000733011] Chr8:6406658 [GRCh38]
Chr8:6264179 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=) single nucleotide variant not provided [RCV000732132] Chr8:6445540 [GRCh38]
Chr8:6303061 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.859A>C (p.Ser287Arg) single nucleotide variant not provided [RCV000732450] Chr8:6444581 [GRCh38]
Chr8:6302102 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2250G>T (p.Pro750=) single nucleotide variant not provided [RCV000917082]|not specified [RCV000733913] Chr8:6621489 [GRCh38]
Chr8:6479010 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) single nucleotide variant MCPH1-related condition [RCV003905533]|Microcephaly 1, primary, autosomal recessive [RCV000766029]|not provided [RCV000594510] Chr8:6445071 [GRCh38]
Chr8:6302592 [GRCh37]
Chr8:8p23.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.216G>A (p.Ser72=) single nucleotide variant not provided [RCV000733649] Chr8:6414866 [GRCh38]
Chr8:6272387 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_024596.5(MCPH1):c.1118G>C (p.Arg373Thr) single nucleotide variant Inborn genetic diseases [RCV002535126]|not provided [RCV000729674] Chr8:6444840 [GRCh38]
Chr8:6302361 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2404G>A (p.Gly802Arg) single nucleotide variant not provided [RCV000729675] Chr8:6621643 [GRCh38]
Chr8:6479164 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001164998]|not provided [RCV002062047]|not specified [RCV000594949] Chr8:6444936 [GRCh38]
Chr8:6302457 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_024596.5(MCPH1):c.145C>G (p.His49Asp) single nucleotide variant not specified [RCV000413193] Chr8:6414795 [GRCh38]
Chr8:6272316 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.4(MCPH1):c.422dupA (p.Thr143Asnfs) duplication Abnormality of brain morphology [RCV000454240] Chr8:6436148 [GRCh38]
Chr8:6293669 [GRCh37]
Chr8:8p23.1		 likely pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6460877)x1 copy number loss See cases [RCV000449227] Chr8:158048..6460877 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:190822-6735327)x1 copy number loss See cases [RCV000446817] Chr8:190822..6735327 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:163166-6735327)x1 copy number loss See cases [RCV000447564] Chr8:163166..6735327 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1(chr8:6422578-6651911)x1 copy number loss See cases [RCV000446575] Chr8:6422578..6651911 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1759A>G (p.Ile587Val) single nucleotide variant not provided [RCV001703575] Chr8:6445481 [GRCh38]
Chr8:6303002 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:1166068-12570914)x3 copy number gain See cases [RCV000448692] Chr8:1166068..12570914 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1 copy number loss See cases [RCV000447872] Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
NM_024596.5(MCPH1):c.1974-2A>G single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000763603]|not provided [RCV000483067] Chr8:6480712 [GRCh38]
Chr8:6338233 [GRCh37]
Chr8:8p23.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val) single nucleotide variant Inborn genetic diseases [RCV003278847]|Microcephaly 1, primary, autosomal recessive [RCV000766030]|not provided [RCV000498795] Chr8:6480845 [GRCh38]
Chr8:6338366 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1188C>A (p.His396Gln) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001164996]|not provided [RCV002527266]|not specified [RCV000503451] Chr8:6444910 [GRCh38]
Chr8:6302431 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2477G>T (p.Cys826Phe) single nucleotide variant not specified [RCV000503590] Chr8:6643018 [GRCh38]
Chr8:6500539 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1 copy number loss See cases [RCV000510201] Chr8:158048..13309069 [GRCh37]
Chr8:8p23.3-22		 likely pathogenic
NM_024596.5(MCPH1):c.2000T>C (p.Val667Ala) single nucleotide variant not provided [RCV000497446] Chr8:6480740 [GRCh38]
Chr8:6338261 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001163019]|not provided [RCV000827360]|not specified [RCV000499941] Chr8:6445507 [GRCh38]
Chr8:6303028 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs) insertion Autosomal recessive primary microcephaly [RCV001193412]|Microcephaly 1, primary, autosomal recessive [RCV000500097] Chr8:6455240..6455241 [GRCh38]
Chr8:6312761..6312762 [GRCh37]
Chr8:8p23.1		 pathogenic|likely pathogenic
NM_024596.5(MCPH1):c.2210C>G (p.Ala737Gly) single nucleotide variant Inborn genetic diseases [RCV002524227]|Microcephaly 1, primary, autosomal recessive [RCV003129874]|not provided [RCV001857129]|not specified [RCV000502495] Chr8:6499925 [GRCh38]
Chr8:6357446 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_024596.5(MCPH1):c.22+2_22+4del deletion Microcephaly 1, primary, autosomal recessive [RCV000502619] Chr8:6406691..6406693 [GRCh38]
Chr8:6264212..6264214 [GRCh37]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6982980)x1 copy number loss See cases [RCV000510343] Chr8:158048..6982980 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x3 copy number gain See cases [RCV000511784] Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-9749574)x1 copy number loss See cases [RCV000510827] Chr8:158048..9749574 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-7044046)x1 copy number loss See cases [RCV000511133] Chr8:158048..7044046 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:6197181-6494655)x1 copy number loss See cases [RCV000511156] Chr8:6197181..6494655 [GRCh37]
Chr8:8p23.2-23.1		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:191530-6644251) copy number loss Intellectual disability [RCV000626543] Chr8:191530..6644251 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.974C>G (p.Thr325Arg) single nucleotide variant Inborn genetic diseases [RCV003287976] Chr8:6444696 [GRCh38]
Chr8:6302217 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.952G>A (p.Ala318Thr) single nucleotide variant Inborn genetic diseases [RCV003284623] Chr8:6444674 [GRCh38]
Chr8:6302195 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2195A>C (p.His732Pro) single nucleotide variant Inborn genetic diseases [RCV003293812] Chr8:6499910 [GRCh38]
Chr8:6357431 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1035A>G (p.Ile345Met) single nucleotide variant Inborn genetic diseases [RCV003263541] Chr8:6444757 [GRCh38]
Chr8:6302278 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.992G>C (p.Arg331Pro) single nucleotide variant Inborn genetic diseases [RCV003279204] Chr8:6444714 [GRCh38]
Chr8:6302235 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.1389G>T (p.Gln463His) single nucleotide variant Inborn genetic diseases [RCV003297745] Chr8:6503200 [GRCh38]
Chr8:6360721 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918) copy number loss Autism [RCV000626544] Chr8:194617..6816918 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.1441A>T (p.Ile481Phe) single nucleotide variant not provided [RCV000584915] Chr8:6445163 [GRCh38]
Chr8:6302684 [GRCh37]
Chr8:8p23.1		 likely benign|conflicting interpretations of pathogenicity
NM_024596.5(MCPH1):c.321dup (p.Arg108fs) duplication Microcephaly 1, primary, autosomal recessive [RCV001507256]|not provided [RCV000627415] Chr8:6431577..6431578 [GRCh38]
Chr8:6289098..6289099 [GRCh37]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:4548026-6505115)x4 copy number gain See cases [RCV000512576] Chr8:4548026..6505115 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
NM_024596.5(MCPH1):c.1494C>T (p.Cys498=) single nucleotide variant not provided [RCV000659094] Chr8:6445216 [GRCh38]
Chr8:6302737 [GRCh37]
Chr8:8p23.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p23.1(chr8:6270298-6374065)x1 copy number loss not provided [RCV000682928] Chr8:6270298..6374065 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3 copy number gain not provided [RCV000683039] Chr8:158048..13974319 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3 copy number gain not provided [RCV000683034] Chr8:158048..9750676 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:6172625-6335548)x1 copy number loss not provided [RCV000682935] Chr8:6172625..6335548 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.2-23.1(chr8:6098243-6563253)x4 copy number gain not provided [RCV000682980] Chr8:6098243..6563253 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1 copy number loss not provided [RCV000683032] Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:6188594-6291181)x1 copy number loss not provided [RCV000682927] Chr8:6188594..6291181 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.2-23.1(chr8:6131268-6289937)x1 copy number loss not provided [RCV000682934] Chr8:6131268..6289937 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1 copy number loss not provided [RCV000683036] Chr8:158048..10939681 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2 copy number gain not provided [RCV000683037] Chr8:168483..13147575 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3 copy number gain not provided [RCV000683040] Chr8:158048..15423270 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000763602]|not provided [RCV000712273] Chr8:6445347 [GRCh38]
Chr8:6302868 [GRCh37]
Chr8:8p23.1		 pathogenic|likely pathogenic
NM_024596.5(MCPH1):c.2272G>A (p.Asp758Asn) single nucleotide variant not provided [RCV000712275] Chr8:6621511 [GRCh38]
Chr8:6479032 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10213-8948469)x1 copy number loss not provided [RCV000747246] Chr8:10213..8948469 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10213-10197718)x1 copy number loss not provided [RCV000747247] Chr8:10213..10197718 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:164984-10007227)x1 copy number loss not provided [RCV000747253] Chr8:164984..10007227 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:4038869-6514185)x1 copy number loss not provided [RCV000747306] Chr8:4038869..6514185 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.2-23.1(chr8:6136512-6266774)x1 copy number loss not provided [RCV000747339] Chr8:6136512..6266774 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.1(chr8:6454559-6488921)x1 copy number loss not provided [RCV000747342] Chr8:6454559..6488921 [GRCh37]
Chr8:8p23.1		 benign
NM_001118887.2(ANGPT2):c.1383G>A (p.Gln461=) single nucleotide variant not provided [RCV000915632] Chr8:6503206 [GRCh38]
Chr8:6360727 [GRCh37]
Chr8:8p23.1		 likely benign
NC_000008.11:g.6406552G>T single nucleotide variant not provided [RCV001644404] Chr8:6406552 [GRCh38]
Chr8:6264073 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.580+285dup duplication not provided [RCV001667085] Chr8:6439372..6439373 [GRCh38]
Chr8:6296893..6296894 [GRCh37]
Chr8:8p23.1		 benign
NM_001118887.2(ANGPT2):c.*3387T>A single nucleotide variant not provided [RCV001667535] Chr8:6499714 [GRCh38]
Chr8:6357235 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.23-159C>G single nucleotide variant not provided [RCV001610215] Chr8:6409120 [GRCh38]
Chr8:6266641 [GRCh37]
Chr8:8p23.1		 benign
NM_001118887.2(ANGPT2):c.1206T>C (p.Leu402=) single nucleotide variant not provided [RCV000896808] Chr8:6509053 [GRCh38]
Chr8:6366574 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2453-271C>T single nucleotide variant not provided [RCV001611801] Chr8:6642723 [GRCh38]
Chr8:6500244 [GRCh37]
Chr8:8p23.1		 benign
GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1 copy number loss not provided [RCV000762736] Chr8:176814..7753583 [GRCh37]
Chr8:8p23.3-23.1		 likely pathogenic
NM_024596.5(MCPH1):c.2118G>A (p.Trp706Ter) single nucleotide variant not provided [RCV000760950] Chr8:6480858 [GRCh38]
Chr8:6338379 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_001118887.2(ANGPT2):c.*3415T>C single nucleotide variant not provided [RCV001546378] Chr8:6499686 [GRCh38]
Chr8:6357207 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.*2998C>T single nucleotide variant not provided [RCV001584954] Chr8:6500103 [GRCh38]
Chr8:6357624 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.*388G>C single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001165452] Chr8:6643437 [GRCh38]
Chr8:6500958 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2335G>A (p.Val779Ile) single nucleotide variant not provided [RCV000992296] Chr8:6621574 [GRCh38]
Chr8:6479095 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1069A>C (p.Lys357Gln) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001164995] Chr8:6444791 [GRCh38]
Chr8:6302312 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.671A>G (p.Asp224Gly) single nucleotide variant Inborn genetic diseases [RCV002568976]|MCPH1-related condition [RCV003948581]|not provided [RCV001550028] Chr8:6444393 [GRCh38]
Chr8:6301914 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.2368C>T (p.Pro790Ser) single nucleotide variant not provided [RCV000998983] Chr8:6621607 [GRCh38]
Chr8:6479128 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1358C>T (p.Thr453Ile) single nucleotide variant not provided [RCV000920586] Chr8:6445080 [GRCh38]
Chr8:6302601 [GRCh37]
Chr8:8p23.1		 benign
NM_001118887.2(ANGPT2):c.929C>T (p.Ala310Val) single nucleotide variant not provided [RCV000970995] Chr8:6514777 [GRCh38]
Chr8:6372298 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.1329C>T (p.Ser443=) single nucleotide variant not provided [RCV000925530] Chr8:6445051 [GRCh38]
Chr8:6302572 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001160085]|not provided [RCV000901737]|not specified [RCV001818752] Chr8:6444955 [GRCh38]
Chr8:6302476 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_001118887.2(ANGPT2):c.805G>C (p.Asp269His) single nucleotide variant not provided [RCV000900020] Chr8:6519986 [GRCh38]
Chr8:6377507 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.75A>G (p.Ser25=) single nucleotide variant not provided [RCV000927272] Chr8:6409331 [GRCh38]
Chr8:6266852 [GRCh37]
Chr8:8p23.1		 likely benign
GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1 copy number loss not provided [RCV001006043] Chr8:158048..9025197 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444) copy number loss Tetralogy of Fallot [RCV000767677] Chr8:194617..7787444 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp) deletion Microcephaly 1, primary, autosomal recessive [RCV000791199] Chr8:6445447..6445449 [GRCh38]
Chr8:6302968..6302970 [GRCh37]
Chr8:8p23.1		 uncertain significance
Single allele deletion not provided [RCV000768453] Chr8:155001..6955001 [GRCh37]
Chr8:8p23.3-23.1		 likely pathogenic
GRCh37/hg19 8p23.3-22(chr8:194617-13947374) copy number gain not provided [RCV000767676] Chr8:194617..13947374 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:184617-6804328) copy number gain not provided [RCV000767678] Chr8:184617..6804328 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.322-1G>C single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV000778861]|not provided [RCV002535641] Chr8:6436047 [GRCh38]
Chr8:6293568 [GRCh37]
Chr8:8p23.1		 likely pathogenic|uncertain significance
NM_024596.5(MCPH1):c.2370C>T (p.Pro790=) single nucleotide variant not provided [RCV000931600] Chr8:6621609 [GRCh38]
Chr8:6479130 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2367C>T (p.Val789=) single nucleotide variant not provided [RCV000900726] Chr8:6621606 [GRCh38]
Chr8:6479127 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.1086G>A (p.Leu362=) single nucleotide variant not provided [RCV000916435] Chr8:6513788 [GRCh38]
Chr8:6371309 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.566+9A>C single nucleotide variant not provided [RCV000969223] Chr8:6527546 [GRCh38]
Chr8:6385067 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys) single nucleotide variant MCPH1-related condition [RCV003968321]|Microcephaly 1, primary, autosomal recessive [RCV001334208]|not provided [RCV000906276] Chr8:6442138 [GRCh38]
Chr8:6299659 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.2202C>A (p.Phe734Leu) single nucleotide variant not provided [RCV000897178] Chr8:6499917 [GRCh38]
Chr8:6357438 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1005C>A (p.Thr335=) single nucleotide variant MCPH1-related condition [RCV003943278]|not provided [RCV000980318] Chr8:6444727 [GRCh38]
Chr8:6302248 [GRCh37]
Chr8:8p23.1		 likely benign
GRCh37/hg19 8p23.2-23.1(chr8:5887223-6999114)x1 copy number loss not provided [RCV001006057] Chr8:5887223..6999114 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.2-23.1(chr8:6180484-6318347)x1 copy number loss not provided [RCV001006058] Chr8:6180484..6318347 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
NM_024596.5(MCPH1):c.115-130G>A single nucleotide variant not provided [RCV000832602] Chr8:6414635 [GRCh38]
Chr8:6272156 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.581-56A>G single nucleotide variant not provided [RCV000833226] Chr8:6442011 [GRCh38]
Chr8:6299532 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.234-141A>T single nucleotide variant not provided [RCV000833225] Chr8:6431358 [GRCh38]
Chr8:6288879 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.804A>G (p.Val268=) single nucleotide variant not provided [RCV000976850] Chr8:6444526 [GRCh38]
Chr8:6302047 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.115-101G>T single nucleotide variant not provided [RCV000829598] Chr8:6414664 [GRCh38]
Chr8:6272185 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.585C>A (p.Ser195=) single nucleotide variant not provided [RCV000936547] Chr8:6442071 [GRCh38]
Chr8:6299592 [GRCh37]
Chr8:8p23.1		 likely benign
GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1 copy number loss not provided [RCV000847768] Chr8:158048..14214722 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.1(chr8:6287703-6619261)x3 copy number gain not provided [RCV000849700] Chr8:6287703..6619261 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.233+73A>G single nucleotide variant not provided [RCV000829599] Chr8:6414956 [GRCh38]
Chr8:6272477 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.233+77C>G single nucleotide variant not provided [RCV000829600] Chr8:6414960 [GRCh38]
Chr8:6272481 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.1026C>T (p.His342=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001164993]|not provided [RCV003558734] Chr8:6444748 [GRCh38]
Chr8:6302269 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.*295A>C single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001165451] Chr8:6643344 [GRCh38]
Chr8:6500865 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.*388G>T single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001165453] Chr8:6643437 [GRCh38]
Chr8:6500958 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.*433C>G single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001165454] Chr8:6643482 [GRCh38]
Chr8:6501003 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.1(chr8:6431852-6498404)x1 copy number loss not provided [RCV001006059] Chr8:6431852..6498404 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.704T>C (p.Val235Ala) single nucleotide variant not provided [RCV000897436] Chr8:6521273 [GRCh38]
Chr8:6378794 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.233+128T>A single nucleotide variant not provided [RCV000843301] Chr8:6415011 [GRCh38]
Chr8:6272532 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.233+137del deletion not provided [RCV000843302] Chr8:6415020 [GRCh38]
Chr8:6272541 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.233+139A>C single nucleotide variant not provided [RCV000843303] Chr8:6415022 [GRCh38]
Chr8:6272543 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.1935+107C>T single nucleotide variant not provided [RCV000843304] Chr8:6455359 [GRCh38]
Chr8:6312880 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2452+70G>T single nucleotide variant not provided [RCV000843305] Chr8:6621761 [GRCh38]
Chr8:6479282 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2452+220A>G single nucleotide variant not provided [RCV000843306] Chr8:6621911 [GRCh38]
Chr8:6479432 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2136+292G>A single nucleotide variant not provided [RCV000844535] Chr8:6481168 [GRCh38]
Chr8:6338689 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2452+285G>A single nucleotide variant not provided [RCV000844538] Chr8:6621976 [GRCh38]
Chr8:6479497 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.670+203dup duplication not provided [RCV000831845] Chr8:6442351..6442352 [GRCh38]
Chr8:6299872..6299873 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2214+2T>C single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001095704]|not provided [RCV001567554] Chr8:6499931 [GRCh38]
Chr8:6357452 [GRCh37]
Chr8:8p23.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_024596.5(MCPH1):c.192G>A (p.Gln64=) single nucleotide variant MCPH1-related condition [RCV003973118]|Microcephaly 1, primary, autosomal recessive [RCV001164876]|not provided [RCV003769795] Chr8:6414842 [GRCh38]
Chr8:6272363 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
GRCh37/hg19 8p23.1(chr8:6270095-6466608)x1 copy number loss not provided [RCV000846939] Chr8:6270095..6466608 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-6984438)x1 copy number loss not provided [RCV000847001] Chr8:158048..6984438 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:4039184-6516311)x1 copy number loss not provided [RCV000847816] Chr8:4039184..6516311 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1 copy number loss not provided [RCV000845663] Chr8:158048..9393052 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.216G>C (p.Ser72=) single nucleotide variant not provided [RCV000914140] Chr8:6414866 [GRCh38]
Chr8:6272387 [GRCh37]
Chr8:8p23.1		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:6127398-6303901)x3 copy number gain not provided [RCV000849559] Chr8:6127398..6303901 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3 copy number gain not provided [RCV001006042] Chr8:158048..8102819 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6969688)x1 copy number loss not provided [RCV000846342] Chr8:158048..6969688 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:6160874-6500521) copy number loss Microcephaly 1, primary, autosomal recessive [RCV001195154] Chr8:6160874..6500521 [GRCh37]
Chr8:8p23.2-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-6940661)x1 copy number loss not provided [RCV000846153] Chr8:158048..6940661 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.561G>T (p.Arg187Ser) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001159965]|not provided [RCV003117789] Chr8:6439077 [GRCh38]
Chr8:6296598 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2254C>G (p.Arg752Gly) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001158612]|not provided [RCV002558400] Chr8:6621493 [GRCh38]
Chr8:6479014 [GRCh37]
Chr8:8p23.1		 uncertain significance
NR_040040.1(MCPH1-DT):n.32A>C single nucleotide variant not provided [RCV001577353] Chr8:6406517 [GRCh38]
Chr8:6264038 [GRCh37]
Chr8:8p23.1		 likely benign
NC_000008.11:g.6406587C>T single nucleotide variant not provided [RCV001577733] Chr8:6406587 [GRCh38]
Chr8:6264108 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2136+228A>G single nucleotide variant not provided [RCV001570968] Chr8:6481104 [GRCh38]
Chr8:6338625 [GRCh37]
Chr8:8p23.1		 likely benign
NR_040040.1(MCPH1-DT):n.55G>A single nucleotide variant not provided [RCV001553311] Chr8:6406494 [GRCh38]
Chr8:6264015 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.436+183C>T single nucleotide variant not provided [RCV001659449] Chr8:6436345 [GRCh38]
Chr8:6293866 [GRCh37]
Chr8:8p23.1		 benign
NM_001118887.2(ANGPT2):c.*3011G>A single nucleotide variant not provided [RCV001533925] Chr8:6500090 [GRCh38]
Chr8:6357611 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.580+284_580+285dup duplication not provided [RCV001561101] Chr8:6439372..6439373 [GRCh38]
Chr8:6296893..6296894 [GRCh37]
Chr8:8p23.1		 likely benign
NR_040040.1(MCPH1-DT):n.254C>G single nucleotide variant not provided [RCV001679432] Chr8:6406295 [GRCh38]
Chr8:6263816 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2453-130G>A single nucleotide variant not provided [RCV001636354] Chr8:6642864 [GRCh38]
Chr8:6500385 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.436+105A>G single nucleotide variant not provided [RCV001725709] Chr8:6436267 [GRCh38]
Chr8:6293788 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.115-148T>C single nucleotide variant not provided [RCV001639233] Chr8:6414617 [GRCh38]
Chr8:6272138 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.114+187T>C single nucleotide variant not provided [RCV001562824] Chr8:6409557 [GRCh38]
Chr8:6267078 [GRCh37]
Chr8:8p23.1		 likely benign
NR_040040.1(MCPH1-DT):n.117C>G single nucleotide variant not provided [RCV001639828] Chr8:6406432 [GRCh38]
Chr8:6263953 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2452+313G>A single nucleotide variant not provided [RCV001586595] Chr8:6622004 [GRCh38]
Chr8:6479525 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.580+277A>T single nucleotide variant not provided [RCV001693362] Chr8:6439373 [GRCh38]
Chr8:6296894 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2137-293A>G single nucleotide variant not provided [RCV001577869] Chr8:6499559 [GRCh38]
Chr8:6357080 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.321+215C>G single nucleotide variant not provided [RCV001549368] Chr8:6431801 [GRCh38]
Chr8:6289322 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.115-56A>G single nucleotide variant not provided [RCV001574205] Chr8:6414709 [GRCh38]
Chr8:6272230 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.477A>C (p.Ser159=) single nucleotide variant not provided [RCV000936476] Chr8:6438993 [GRCh38]
Chr8:6296514 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.489T>C (p.Thr163=) single nucleotide variant MCPH1-related condition [RCV003910469]|Microcephaly 1, primary, autosomal recessive [RCV001159963]|not provided [RCV000885334] Chr8:6439005 [GRCh38]
Chr8:6296526 [GRCh37]
Chr8:8p23.1		 benign|likely benign|uncertain significance
NM_001118887.2(ANGPT2):c.778A>T (p.Thr260Ser) single nucleotide variant not provided [RCV000888112] Chr8:6521199 [GRCh38]
Chr8:6378720 [GRCh37]
Chr8:8p23.1		 benign
NM_001118887.2(ANGPT2):c.462G>A (p.Thr154=) single nucleotide variant not provided [RCV000963901] Chr8:6527659 [GRCh38]
Chr8:6385180 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.581-29C>A single nucleotide variant not provided [RCV001786592] Chr8:6442038 [GRCh38]
Chr8:6299559 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2133T>C (p.Asp711=) single nucleotide variant not provided [RCV000919296] Chr8:6480873 [GRCh38]
Chr8:6338394 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.96G>A (p.Lys32=) single nucleotide variant not provided [RCV000954045] Chr8:6562839 [GRCh38]
Chr8:6420360 [GRCh37]
Chr8:8p23.1		 benign
NM_001118887.2(ANGPT2):c.492C>T (p.Ser164=) single nucleotide variant not provided [RCV000910894] Chr8:6527629 [GRCh38]
Chr8:6385150 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.1665G>A (p.Ala555=) single nucleotide variant not provided [RCV000910978] Chr8:6445387 [GRCh38]
Chr8:6302908 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.22+55C>G single nucleotide variant not provided [RCV001537375] Chr8:6406744 [GRCh38]
Chr8:6264265 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.*3256G>A single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001158396]|not provided [RCV002070951] Chr8:6499845 [GRCh38]
Chr8:6357366 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.148G>A (p.Val50Ile) single nucleotide variant Inborn genetic diseases [RCV003353111]|Microcephaly 1, primary, autosomal recessive [RCV001164875]|Microcephaly [RCV001252700] Chr8:6414798 [GRCh38]
Chr8:6272319 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1052G>T (p.Ser351Ile) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001164994]|not provided [RCV003322855] Chr8:6444774 [GRCh38]
Chr8:6302295 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1226A>T (p.Glu409Val) single nucleotide variant Inborn genetic diseases [RCV002559533]|MCPH1-related condition [RCV003928758]|Microcephaly 1, primary, autosomal recessive [RCV001160084]|not provided [RCV001751293] Chr8:6444948 [GRCh38]
Chr8:6302469 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1809C>T (p.Pro603=) single nucleotide variant MCPH1-related condition [RCV003958341]|not provided [RCV000913066] Chr8:6445531 [GRCh38]
Chr8:6303052 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.432T>C (p.Asn144=) single nucleotide variant not provided [RCV000913498] Chr8:6436158 [GRCh38]
Chr8:6293679 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1866C>T (p.Asp622=) single nucleotide variant not provided [RCV000891398] Chr8:6455183 [GRCh38]
Chr8:6312704 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1485T>C (p.Thr495=) single nucleotide variant not provided [RCV000934261] Chr8:6445207 [GRCh38]
Chr8:6302728 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2013A>G (p.Lys671=) single nucleotide variant not provided [RCV000911869] Chr8:6480753 [GRCh38]
Chr8:6338274 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.498G>C (p.Ser166=) single nucleotide variant not provided [RCV000911076] Chr8:6527623 [GRCh38]
Chr8:6385144 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.15C>T (p.Ile5=) single nucleotide variant not provided [RCV000912222] Chr8:6406682 [GRCh38]
Chr8:6264203 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.233+289A>T single nucleotide variant not provided [RCV001561734] Chr8:6415172 [GRCh38]
Chr8:6272693 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.*3315A>G single nucleotide variant not provided [RCV001530634] Chr8:6499786 [GRCh38]
Chr8:6357307 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.321+47C>T single nucleotide variant not provided [RCV001564797] Chr8:6431633 [GRCh38]
Chr8:6289154 [GRCh37]
Chr8:8p23.1		 likely benign
NC_000008.11:g.(?_6499632)_(6563245_?)del deletion Lymphatic malformation 10 [RCV001479011] Chr8:6499632..6563245 [GRCh38]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1 copy number loss not provided [RCV002472557] Chr8:158049..18936715 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.1(chr8:6284373-9047178)x3 copy number gain not provided [RCV002472889] Chr8:6284373..9047178 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.23-107C>T single nucleotide variant not provided [RCV001721872] Chr8:6409172 [GRCh38]
Chr8:6266693 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2215-249C>A single nucleotide variant not provided [RCV001641170] Chr8:6621205 [GRCh38]
Chr8:6478726 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.23-233G>C single nucleotide variant not provided [RCV001586765] Chr8:6409046 [GRCh38]
Chr8:6266567 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1936-87A>C single nucleotide variant not provided [RCV001565635] Chr8:6477507 [GRCh38]
Chr8:6335028 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2136+74A>G single nucleotide variant not provided [RCV001555230] Chr8:6480950 [GRCh38]
Chr8:6338471 [GRCh37]
Chr8:8p23.1		 likely benign
NR_040040.1(MCPH1-DT):n.230G>C single nucleotide variant not provided [RCV001568834] Chr8:6406319 [GRCh38]
Chr8:6263840 [GRCh37]
Chr8:8p23.1		 likely benign
NR_040040.1(MCPH1-DT):n.54C>G single nucleotide variant not provided [RCV001594226] Chr8:6406495 [GRCh38]
Chr8:6264016 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2452+97C>T single nucleotide variant not provided [RCV001556100] Chr8:6621788 [GRCh38]
Chr8:6479309 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1973+226G>C single nucleotide variant not provided [RCV001620495] Chr8:6477857 [GRCh38]
Chr8:6335378 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.513G>T (p.Arg171Ser) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001776252]|not provided [RCV002070351]|not specified [RCV001528921] Chr8:6439029 [GRCh38]
Chr8:6296550 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.114+66A>G single nucleotide variant not provided [RCV001639110] Chr8:6409436 [GRCh38]
Chr8:6266957 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.1974-236A>G single nucleotide variant not provided [RCV001620103] Chr8:6480478 [GRCh38]
Chr8:6337999 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.233+53T>G single nucleotide variant not provided [RCV001616126] Chr8:6414936 [GRCh38]
Chr8:6272457 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.580+276dup duplication not provided [RCV001580903] Chr8:6439363..6439364 [GRCh38]
Chr8:6296884..6296885 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.*3431A>G single nucleotide variant not provided [RCV001655385] Chr8:6499670 [GRCh38]
Chr8:6357191 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.322-232T>C single nucleotide variant not provided [RCV001619497] Chr8:6435816 [GRCh38]
Chr8:6293337 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.436+326A>G single nucleotide variant not provided [RCV001621654] Chr8:6436488 [GRCh38]
Chr8:6294009 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2137-280C>T single nucleotide variant not provided [RCV001620925] Chr8:6499572 [GRCh38]
Chr8:6357093 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.321+163A>G single nucleotide variant not provided [RCV001598915] Chr8:6431749 [GRCh38]
Chr8:6289270 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.729A>T (p.Gly243=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001161372]|not provided [RCV002559543] Chr8:6444451 [GRCh38]
Chr8:6301972 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.502A>G (p.Ile168Val) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001159964] Chr8:6439018 [GRCh38]
Chr8:6296539 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2435C>G (p.Ser812Cys) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001161832] Chr8:6621674 [GRCh38]
Chr8:6479195 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2462C>T (p.Thr821Ile) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001161834] Chr8:6643003 [GRCh38]
Chr8:6500524 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.-39G>A single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001162806] Chr8:6406629 [GRCh38]
Chr8:6264150 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.*64T>C single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001163352] Chr8:6643113 [GRCh38]
Chr8:6500634 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2199C>G (p.His733Gln) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001158397]|not provided [RCV003546666] Chr8:6499914 [GRCh38]
Chr8:6357435 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.1589A>T (p.Glu530Val) single nucleotide variant Inborn genetic diseases [RCV002557379]|Microcephaly 1, primary, autosomal recessive [RCV001161497]|not provided [RCV001751294] Chr8:6445311 [GRCh38]
Chr8:6302832 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1973+56T>C single nucleotide variant not provided [RCV001613475] Chr8:6477687 [GRCh38]
Chr8:6335208 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2452+3494A>G single nucleotide variant not provided [RCV001650306] Chr8:6625185 [GRCh38]
Chr8:6482706 [GRCh37]
Chr8:8p23.1		 benign
NR_040040.1(MCPH1-DT):n.27G>A single nucleotide variant not provided [RCV001536531] Chr8:6406522 [GRCh38]
Chr8:6264043 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.322-291G>T single nucleotide variant not provided [RCV001564852] Chr8:6435757 [GRCh38]
Chr8:6293278 [GRCh37]
Chr8:8p23.1		 likely benign
NR_040040.1(MCPH1-DT):n.185G>C single nucleotide variant not provided [RCV001589426] Chr8:6406364 [GRCh38]
Chr8:6263885 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2417C>T (p.Ala806Val) single nucleotide variant Inborn genetic diseases [RCV002559546]|Microcephaly 1, primary, autosomal recessive [RCV001161831] Chr8:6621656 [GRCh38]
Chr8:6479177 [GRCh37]
Chr8:8p23.1		 uncertain significance
NR_040040.1(MCPH1-DT):n.263A>G single nucleotide variant not provided [RCV001692883] Chr8:6406286 [GRCh38]
Chr8:6263807 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2136+298T>C single nucleotide variant not provided [RCV001696087] Chr8:6481174 [GRCh38]
Chr8:6338695 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2452+148C>G single nucleotide variant not provided [RCV001725523] Chr8:6621839 [GRCh38]
Chr8:6479360 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.671-176T>G single nucleotide variant not provided [RCV001585091] Chr8:6444217 [GRCh38]
Chr8:6301738 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1974-306C>T single nucleotide variant not provided [RCV001585155] Chr8:6480408 [GRCh38]
Chr8:6337929 [GRCh37]
Chr8:8p23.1		 likely benign
NR_040040.1(MCPH1-DT):n.158T>A single nucleotide variant not provided [RCV001644186] Chr8:6406391 [GRCh38]
Chr8:6263912 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2078G>A (p.Arg693His) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001165108] Chr8:6480818 [GRCh38]
Chr8:6338339 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.1(chr8:6261036-6312712) copy number loss Microcephaly 1, primary, autosomal recessive [RCV001195155] Chr8:6261036..6312712 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.1298C>A (p.Ser433Tyr) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001160086]|not provided [RCV002032477] Chr8:6445020 [GRCh38]
Chr8:6302541 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1390G>A (p.Val464Ile) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001160087]|not provided [RCV002032478] Chr8:6445112 [GRCh38]
Chr8:6302633 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.340A>G (p.Lys114Glu) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001164877] Chr8:6436066 [GRCh38]
Chr8:6293587 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1956G>A (p.Met652Ile) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001165105] Chr8:6477614 [GRCh38]
Chr8:6335135 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter) single nucleotide variant Autosomal recessive primary microcephaly [RCV003155379]|not provided [RCV001245798] Chr8:6621601 [GRCh38]
Chr8:6479122 [GRCh37]
Chr8:8p23.1		 pathogenic|likely pathogenic|uncertain significance
NM_024596.5(MCPH1):c.641T>G (p.Leu214Trp) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001161370]|not provided [RCV001859045] Chr8:6442127 [GRCh38]
Chr8:6299648 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.2-23.1(chr8:2308926-6939296)x3 copy number gain Short stature [RCV001004812] Chr8:2308926..6939296 [GRCh37]
Chr8:8p23.2-23.1		 likely pathogenic
NM_024596.5(MCPH1):c.2137G>T (p.Val713Leu) single nucleotide variant not provided [RCV001090296] Chr8:6499852 [GRCh38]
Chr8:6357373 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2002del (p.Asp668fs) deletion Microcephaly 1, primary, autosomal recessive [RCV001197893] Chr8:6480741 [GRCh38]
Chr8:6338262 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.1628C>G (p.Thr543Ser) single nucleotide variant Intellectual disability [RCV001251829] Chr8:6445350 [GRCh38]
Chr8:6302871 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg) single nucleotide variant Intellectual disability [RCV001251831]|Microcephaly 1, primary, autosomal recessive [RCV002485988]|not provided [RCV002568719] Chr8:6621496 [GRCh38]
Chr8:6479017 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.505A>T (p.Asn169Tyr) single nucleotide variant Inborn genetic diseases [RCV003263909]|Intellectual disability [RCV001251828] Chr8:6439021 [GRCh38]
Chr8:6296542 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1 copy number loss Cerebellar ataxia [RCV001251057] Chr8:176814..11472913 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:5950546-6703513)x1 copy number loss not provided [RCV001260038] Chr8:5950546..6703513 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:411691-6999114)x1 copy number loss not provided [RCV001258401] Chr8:411691..6999114 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_024596.5(MCPH1):c.2078G>T (p.Arg693Leu) single nucleotide variant not provided [RCV001255084] Chr8:6480818 [GRCh38]
Chr8:6338339 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.149T>G (p.Val50Gly) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001334205] Chr8:6414799 [GRCh38]
Chr8:6272320 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.586del (p.Gln196fs) deletion Microcephaly 1, primary, autosomal recessive [RCV001269296] Chr8:6442070 [GRCh38]
Chr8:6299591 [GRCh37]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:6180484-6554615)x1 copy number loss not provided [RCV001260039] Chr8:6180484..6554615 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
NM_024596.5(MCPH1):c.1974-130G>A single nucleotide variant not provided [RCV001538890] Chr8:6480584 [GRCh38]
Chr8:6338105 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.23-1G>C single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001262166] Chr8:6409278 [GRCh38]
Chr8:6266799 [GRCh37]
Chr8:8p23.1		 likely pathogenic|likely benign
NM_024596.5(MCPH1):c.1281G>T (p.Glu427Asp) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001329351] Chr8:6445003 [GRCh38]
Chr8:6302524 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
NM_024596.5(MCPH1):c.151A>G (p.Ile51Val) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001334206] Chr8:6414801 [GRCh38]
Chr8:6272322 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1935+1G>T single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001782430] Chr8:6455253 [GRCh38]
Chr8:6312774 [GRCh37]
Chr8:8p23.1		 pathogenic|likely pathogenic
NM_024596.5(MCPH1):c.1040C>A (p.Ser347Ter) single nucleotide variant not provided [RCV001383866] Chr8:6444762 [GRCh38]
Chr8:6302283 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.437-129G>A single nucleotide variant not provided [RCV001534330] Chr8:6438824 [GRCh38]
Chr8:6296345 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001376016] Chr8:6414793 [GRCh38]
Chr8:6272314 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_001118887.2(ANGPT2):c.893C>T (p.Thr298Met) single nucleotide variant Lymphatic malformation 10 [RCV001479013] Chr8:6519898 [GRCh38]
Chr8:6377419 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_001118887.2(ANGPT2):c.1301G>C (p.Cys434Ser) single nucleotide variant Lymphatic malformation 10 [RCV001479014] Chr8:6508958 [GRCh38]
Chr8:6366479 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2453-271C>A single nucleotide variant not provided [RCV001588392] Chr8:6642723 [GRCh38]
Chr8:6500244 [GRCh37]
Chr8:8p23.1		 likely benign
NR_040040.1(MCPH1-DT):n.123G>C single nucleotide variant not provided [RCV001651428] Chr8:6406426 [GRCh38]
Chr8:6263947 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.1936-42_1936-41insA insertion not provided [RCV001716050] Chr8:6477552..6477553 [GRCh38]
Chr8:6335073..6335074 [GRCh37]
Chr8:8p23.1		 benign
NR_040040.1(MCPH1-DT):n.131G>A single nucleotide variant not provided [RCV001649282] Chr8:6406418 [GRCh38]
Chr8:6263939 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2136+267T>G single nucleotide variant not provided [RCV001667945] Chr8:6481143 [GRCh38]
Chr8:6338664 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.1973+301C>G single nucleotide variant not provided [RCV001716463] Chr8:6477932 [GRCh38]
Chr8:6335453 [GRCh37]
Chr8:8p23.1		 benign
NM_001118887.2(ANGPT2):c.*3457C>T single nucleotide variant not provided [RCV001540974] Chr8:6499644 [GRCh38]
Chr8:6357165 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.64G>A (p.Glu22Lys) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001507257] Chr8:6409320 [GRCh38]
Chr8:6266841 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.9C>T (p.Ala3=) single nucleotide variant not provided [RCV003104805] Chr8:6406676 [GRCh38]
Chr8:6264197 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.1558C>G (p.Pro520Ala) single nucleotide variant not provided [RCV003127156] Chr8:6445280 [GRCh38]
Chr8:6302801 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2427G>T (p.Lys809Asn) single nucleotide variant not provided [RCV001763187] Chr8:6621666 [GRCh38]
Chr8:6479187 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2127_2128del (p.Ser709_Tyr710insTer) deletion Microcephaly 1, primary, autosomal recessive [RCV001782429] Chr8:6480867..6480868 [GRCh38]
Chr8:6338388..6338389 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.797C>T (p.Ser266Leu) single nucleotide variant not provided [RCV001774354] Chr8:6444519 [GRCh38]
Chr8:6302040 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.217G>C (p.Val73Leu) single nucleotide variant not provided [RCV001754370] Chr8:6414867 [GRCh38]
Chr8:6272388 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.146A>G (p.His49Arg) single nucleotide variant not provided [RCV001768669] Chr8:6414796 [GRCh38]
Chr8:6272317 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1370A>G (p.Glu457Gly) single nucleotide variant not provided [RCV001768444] Chr8:6445092 [GRCh38]
Chr8:6302613 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001782427]|not provided [RCV003772153] Chr8:6621460 [GRCh38]
Chr8:6478981 [GRCh37]
Chr8:8p23.1		 pathogenic|likely pathogenic|likely benign
GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1 copy number loss Obesity [RCV001801195] Chr8:10501..7214947 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.436+46A>G single nucleotide variant not provided [RCV001797248] Chr8:6436208 [GRCh38]
Chr8:6293729 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.135A>C (p.Lys45Asn) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001807953]|not provided [RCV001869575] Chr8:6414785 [GRCh38]
Chr8:6272306 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1894A>G (p.Lys632Glu) single nucleotide variant Inborn genetic diseases [RCV002542558]|not specified [RCV001819293] Chr8:6455211 [GRCh38]
Chr8:6312732 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1163G>A (p.Cys388Tyr) single nucleotide variant Inborn genetic diseases [RCV003163959]|not specified [RCV001817123] Chr8:6444885 [GRCh38]
Chr8:6302406 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001808250]|not provided [RCV001869586] Chr8:6445152 [GRCh38]
Chr8:6302673 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.321del (p.Lys107fs) deletion Abnormality of the nervous system [RCV001814465]|not provided [RCV003708604] Chr8:6431578 [GRCh38]
Chr8:6289099 [GRCh37]
Chr8:8p23.1		 pathogenic|likely pathogenic
NM_024596.5(MCPH1):c.40G>A (p.Glu14Lys) single nucleotide variant not provided [RCV001817722] Chr8:6409296 [GRCh38]
Chr8:6266817 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.1630C>G (p.Pro544Ala) single nucleotide variant not specified [RCV001819502] Chr8:6445352 [GRCh38]
Chr8:6302873 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1810G>A (p.Gly604Arg) single nucleotide variant not provided [RCV001889285] Chr8:6445532 [GRCh38]
Chr8:6303053 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1538C>G (p.Ala513Gly) single nucleotide variant not provided [RCV001966088] Chr8:6445260 [GRCh38]
Chr8:6302781 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2189T>A (p.Leu730Gln) single nucleotide variant Inborn genetic diseases [RCV002642168]|not provided [RCV002022565] Chr8:6499904 [GRCh38]
Chr8:6357425 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1169C>T (p.Ser390Leu) single nucleotide variant not provided [RCV001927299] Chr8:6444891 [GRCh38]
Chr8:6302412 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3 copy number gain not provided [RCV001827598] Chr8:158048..11936107 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.1188C>G (p.His396Gln) single nucleotide variant not provided [RCV001964544] Chr8:6444910 [GRCh38]
Chr8:6302431 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2256_2257delinsGC (p.Gly753Arg) indel not provided [RCV002008530] Chr8:6621495..6621496 [GRCh38]
Chr8:6479016..6479017 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.523G>A (p.Ala175Thr) single nucleotide variant not provided [RCV001914393] Chr8:6439039 [GRCh38]
Chr8:6296560 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.305G>A (p.Ser102Asn) single nucleotide variant not provided [RCV001912033] Chr8:6431570 [GRCh38]
Chr8:6289091 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1867T>C (p.Ser623Pro) single nucleotide variant not provided [RCV001890724] Chr8:6455184 [GRCh38]
Chr8:6312705 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1522A>G (p.Arg508Gly) single nucleotide variant not provided [RCV002041792] Chr8:6445244 [GRCh38]
Chr8:6302765 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1936-6C>A single nucleotide variant not provided [RCV001912985] Chr8:6477588 [GRCh38]
Chr8:6335109 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NC_000008.10:g.(?_6500495)_(6500570_?)dup duplication not provided [RCV002021817] Chr8:6500495..6500570 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2312C>T (p.Pro771Leu) single nucleotide variant not provided [RCV001889411] Chr8:6621551 [GRCh38]
Chr8:6479072 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.497T>A (p.Ile166Asn) single nucleotide variant not provided [RCV001889763] Chr8:6439013 [GRCh38]
Chr8:6296534 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1553C>T (p.Ala518Val) single nucleotide variant not provided [RCV001908712] Chr8:6445275 [GRCh38]
Chr8:6302796 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.833C>T (p.Pro278Leu) single nucleotide variant not provided [RCV001892161] Chr8:6444555 [GRCh38]
Chr8:6302076 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1402A>T (p.Thr468Ser) single nucleotide variant not provided [RCV002039720] Chr8:6445124 [GRCh38]
Chr8:6302645 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.1(chr8:6452152-6651911)x1 copy number loss not provided [RCV001829064] Chr8:6452152..6651911 [GRCh37]
Chr8:8p23.1		 likely benign
GRCh37/hg19 8p23.2-23.1(chr8:5968739-6496889) copy number gain not specified [RCV002053753] Chr8:5968739..6496889 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
GRCh37/hg19 8p23.1(chr8:6223920-6284215)x1 copy number loss not provided [RCV001834157] Chr8:6223920..6284215 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.432T>A (p.Asn144Lys) single nucleotide variant not provided [RCV001985911] Chr8:6436158 [GRCh38]
Chr8:6293679 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1459A>G (p.Thr487Ala) single nucleotide variant not provided [RCV001985933] Chr8:6445181 [GRCh38]
Chr8:6302702 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1871G>A (p.Cys624Tyr) single nucleotide variant not provided [RCV002024440] Chr8:6455188 [GRCh38]
Chr8:6312709 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.571T>C (p.Ser191Pro) single nucleotide variant not provided [RCV001889679] Chr8:6439087 [GRCh38]
Chr8:6296608 [GRCh37]
Chr8:8p23.1		 uncertain significance
NC_000008.10:g.(?_6299568)_(6500570_?)del deletion not provided [RCV002004755] Chr8:6299568..6500570 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2417_2418delinsTA (p.Ala806Val) indel not provided [RCV001984839] Chr8:6621656..6621657 [GRCh38]
Chr8:6479177..6479178 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.818A>G (p.Asn273Ser) single nucleotide variant not provided [RCV001965666] Chr8:6444540 [GRCh38]
Chr8:6302061 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2023A>G (p.Ile675Val) single nucleotide variant Inborn genetic diseases [RCV003355583]|not provided [RCV001961821] Chr8:6480763 [GRCh38]
Chr8:6338284 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2378C>G (p.Ala793Gly) single nucleotide variant not provided [RCV002001150] Chr8:6621617 [GRCh38]
Chr8:6479138 [GRCh37]
Chr8:8p23.1		 uncertain significance
NC_000008.10:g.(?_6500495)_(6500570_?)del deletion not provided [RCV001943197] Chr8:6500495..6500570 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.352T>G (p.Phe118Val) single nucleotide variant not provided [RCV001884613] Chr8:6436078 [GRCh38]
Chr8:6293599 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1850A>G (p.His617Arg) single nucleotide variant not provided [RCV001999577] Chr8:6455167 [GRCh38]
Chr8:6312688 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.437-12_437-9del deletion not provided [RCV002038641] Chr8:6438938..6438941 [GRCh38]
Chr8:6296459..6296462 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.1417A>C (p.Ile473Leu) single nucleotide variant not provided [RCV001917073] Chr8:6445139 [GRCh38]
Chr8:6302660 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.670+3_670+19dup duplication not provided [RCV001924650] Chr8:6442157..6442158 [GRCh38]
Chr8:6299678..6299679 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.1712C>G (p.Ser571Ter) single nucleotide variant not provided [RCV002035469] Chr8:6445434 [GRCh38]
Chr8:6302955 [GRCh37]
Chr8:8p23.1		 pathogenic|uncertain significance
NM_024596.5(MCPH1):c.61A>G (p.Thr21Ala) single nucleotide variant not provided [RCV001999596] Chr8:6409317 [GRCh38]
Chr8:6266838 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.26dup (p.Val10fs) duplication not provided [RCV002037974] Chr8:6409281..6409282 [GRCh38]
Chr8:6266802..6266803 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2399A>T (p.Tyr800Phe) single nucleotide variant not provided [RCV002037558] Chr8:6621638 [GRCh38]
Chr8:6479159 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1563G>C (p.Glu521Asp) single nucleotide variant not provided [RCV001921164] Chr8:6445285 [GRCh38]
Chr8:6302806 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1502C>T (p.Ser501Phe) single nucleotide variant not provided [RCV001877507] Chr8:6445224 [GRCh38]
Chr8:6302745 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.7G>T (p.Ala3Ser) single nucleotide variant not provided [RCV002046942] Chr8:6406674 [GRCh38]
Chr8:6264195 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.646A>G (p.Ile216Val) single nucleotide variant not provided [RCV002029746] Chr8:6442132 [GRCh38]
Chr8:6299653 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1937C>G (p.Pro646Arg) single nucleotide variant not provided [RCV001993962] Chr8:6477595 [GRCh38]
Chr8:6335116 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1978C>G (p.Gln660Glu) single nucleotide variant not provided [RCV001931314] Chr8:6480718 [GRCh38]
Chr8:6338239 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1825+6T>G single nucleotide variant not provided [RCV001937600] Chr8:6445553 [GRCh38]
Chr8:6303074 [GRCh37]
Chr8:8p23.1		 uncertain significance
NC_000008.10:g.(?_6264189)_(6312793_?)del deletion not provided [RCV001953442] Chr8:6264189..6312793 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2341C>T (p.Leu781=) single nucleotide variant MCPH1-related condition [RCV003923393]|not provided [RCV001953670] Chr8:6621580 [GRCh38]
Chr8:6479101 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1615GAT[2] (p.Asp541del) microsatellite not provided [RCV002013725] Chr8:6445335..6445337 [GRCh38]
Chr8:6302856..6302858 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.115-6C>G single nucleotide variant Inborn genetic diseases [RCV002555772]|not provided [RCV001916106] Chr8:6414759 [GRCh38]
Chr8:6272280 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NC_000008.10:g.(?_6264189)_(6420455_?)del deletion not provided [RCV001972479] Chr8:6264189..6420455 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.1903G>A (p.Glu635Lys) single nucleotide variant not provided [RCV001954213] Chr8:6455220 [GRCh38]
Chr8:6312741 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1202C>T (p.Ala401Val) single nucleotide variant Inborn genetic diseases [RCV002555638]|not provided [RCV001906432] Chr8:6444924 [GRCh38]
Chr8:6302445 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.511_513del (p.Arg171del) deletion not provided [RCV001972943] Chr8:6439027..6439029 [GRCh38]
Chr8:6296548..6296550 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1336A>C (p.Ser446Arg) single nucleotide variant not provided [RCV001939798] Chr8:6445058 [GRCh38]
Chr8:6302579 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1144A>T (p.Met382Leu) single nucleotide variant not provided [RCV002046078] Chr8:6444866 [GRCh38]
Chr8:6302387 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1285C>T (p.Leu429Phe) single nucleotide variant not provided [RCV001883529] Chr8:6445007 [GRCh38]
Chr8:6302528 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV002478363]|not provided [RCV001939890] Chr8:6445199 [GRCh38]
Chr8:6302720 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV001885705] Chr8:6406672 [GRCh38]
Chr8:6264193 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2353C>T (p.Arg785Trp) single nucleotide variant Inborn genetic diseases [RCV002545640]|not provided [RCV002050673] Chr8:6621592 [GRCh38]
Chr8:6479113 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.*3167C>A single nucleotide variant not provided [RCV001936150] Chr8:6499934 [GRCh38]
Chr8:6357455 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1929C>T (p.Gly643=) single nucleotide variant not provided [RCV002126030] Chr8:6455246 [GRCh38]
Chr8:6312767 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1104G>A (p.Lys368=) single nucleotide variant not provided [RCV002148193] Chr8:6444826 [GRCh38]
Chr8:6302347 [GRCh37]
Chr8:8p23.1		 benign
NM_001118887.2(ANGPT2):c.*3258G>A single nucleotide variant not provided [RCV002088690] Chr8:6499843 [GRCh38]
Chr8:6357364 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2085G>C (p.Leu695=) single nucleotide variant not provided [RCV002207880] Chr8:6480825 [GRCh38]
Chr8:6338346 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.*3262C>G single nucleotide variant not provided [RCV002106840] Chr8:6499839 [GRCh38]
Chr8:6357360 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2064C>T (p.Ser688=) single nucleotide variant not provided [RCV002167636] Chr8:6480804 [GRCh38]
Chr8:6338325 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1055C>T (p.Ser352Phe) single nucleotide variant not provided [RCV002089968] Chr8:6444777 [GRCh38]
Chr8:6302298 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1101G>A (p.Pro367=) single nucleotide variant not provided [RCV002113201] Chr8:6444823 [GRCh38]
Chr8:6302344 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC indel Microcephaly 1, primary, autosomal recessive [RCV002500218]|not provided [RCV002114832] Chr8:6621435..6621436 [GRCh38]
Chr8:6478956..6478957 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1389C>T (p.Cys463=) single nucleotide variant not provided [RCV002170660] Chr8:6445111 [GRCh38]
Chr8:6302632 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.670+12A>T single nucleotide variant not provided [RCV002193434] Chr8:6442168 [GRCh38]
Chr8:6299689 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.627G>A (p.Leu209=) single nucleotide variant not provided [RCV002210095] Chr8:6442113 [GRCh38]
Chr8:6299634 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.22+12C>T single nucleotide variant not provided [RCV002194084] Chr8:6406701 [GRCh38]
Chr8:6264222 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.975G>A (p.Thr325=) single nucleotide variant not provided [RCV002108461] Chr8:6444697 [GRCh38]
Chr8:6302218 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2346C>T (p.Cys782=) single nucleotide variant not provided [RCV002077922] Chr8:6621585 [GRCh38]
Chr8:6479106 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1909T>C (p.Leu637=) single nucleotide variant not provided [RCV002131471] Chr8:6455226 [GRCh38]
Chr8:6312747 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2358C>A (p.Val786=) single nucleotide variant not provided [RCV002214464] Chr8:6621597 [GRCh38]
Chr8:6479118 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.437-13dup duplication not provided [RCV002115935] Chr8:6438934..6438935 [GRCh38]
Chr8:6296455..6296456 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.1344T>A (p.Ser448=) single nucleotide variant not provided [RCV002080610] Chr8:6445066 [GRCh38]
Chr8:6302587 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1263T>A (p.Leu421=) single nucleotide variant not provided [RCV002075864] Chr8:6444985 [GRCh38]
Chr8:6302506 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.576C>T (p.Pro192=) single nucleotide variant not provided [RCV002132930] Chr8:6439092 [GRCh38]
Chr8:6296613 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2136+16G>T single nucleotide variant not provided [RCV002135389] Chr8:6480892 [GRCh38]
Chr8:6338413 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2355G>T (p.Arg785=) single nucleotide variant not provided [RCV002200359] Chr8:6621594 [GRCh38]
Chr8:6479115 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.23-12T>C single nucleotide variant not provided [RCV002163643] Chr8:6409267 [GRCh38]
Chr8:6266788 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.322-17G>C single nucleotide variant not provided [RCV002135361] Chr8:6436031 [GRCh38]
Chr8:6293552 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.279A>G (p.Ala93=) single nucleotide variant not provided [RCV002083514] Chr8:6431544 [GRCh38]
Chr8:6289065 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2215-12T>G single nucleotide variant not provided [RCV002121886] Chr8:6621442 [GRCh38]
Chr8:6478963 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2215-20_2215-19delinsCG indel not provided [RCV002142920] Chr8:6621434..6621435 [GRCh38]
Chr8:6478955..6478956 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1974-10G>A single nucleotide variant not provided [RCV002219277] Chr8:6480704 [GRCh38]
Chr8:6338225 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.444T>G (p.Asp148Glu) single nucleotide variant MCPH1-related condition [RCV003978583]|not provided [RCV002217503] Chr8:6438960 [GRCh38]
Chr8:6296481 [GRCh37]
Chr8:8p23.1		 benign|likely benign
NM_024596.5(MCPH1):c.165C>A (p.Gly55=) single nucleotide variant not provided [RCV002081598] Chr8:6414815 [GRCh38]
Chr8:6272336 [GRCh37]
Chr8:8p23.1		 likely benign
NC_000008.10:g.(?_6264189)_(6500570_?)del deletion not provided [RCV003122673] Chr8:6264189..6500570 [GRCh37]
Chr8:8p23.1		 pathogenic
NC_000008.10:g.(?_6266780)_(6266911_?)del deletion not provided [RCV003122674] Chr8:6266780..6266911 [GRCh37]
Chr8:8p23.1		 pathogenic
NC_000008.10:g.(?_6264189)_(6266911_?)del deletion not provided [RCV003122675] Chr8:6264189..6266911 [GRCh37]
Chr8:8p23.1		 pathogenic
NC_000008.10:g.(?_6372178)_(6500570_?)del deletion not provided [RCV003122676] Chr8:6372178..6500570 [GRCh37]
Chr8:8p23.1		 uncertain significance
NC_000008.10:g.(?_6264189)_(6303088_?)dup duplication not provided [RCV003122677] Chr8:6264189..6303088 [GRCh37]
Chr8:8p23.1		 uncertain significance
NC_000008.10:g.(?_6357353)_(6357470_?)del deletion not provided [RCV003122678] Chr8:6357353..6357470 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.882T>C (p.Asn294=) single nucleotide variant not provided [RCV002293185] Chr8:6519909 [GRCh38]
Chr8:6377430 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2410A>T (p.Lys804Ter) single nucleotide variant Autosomal recessive primary microcephaly [RCV002266534] Chr8:6621649 [GRCh38]
Chr8:6479170 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.1600C>G (p.Leu534Val) single nucleotide variant not provided [RCV002283277] Chr8:6445322 [GRCh38]
Chr8:6302843 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413) copy number gain Neurodevelopmental delay [RCV002280754] Chr8:158048..10348413 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1 copy number loss See cases [RCV002287568] Chr8:158048..11281408 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.168C>G (p.Tyr56Ter) single nucleotide variant See cases [RCV002287679] Chr8:6414818 [GRCh38]
Chr8:6272339 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2136+20T>A single nucleotide variant not provided [RCV003568725] Chr8:6480896 [GRCh38]
Chr8:6338417 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1978C>T (p.Gln660Ter) single nucleotide variant Autosomal recessive primary microcephaly [RCV002283367] Chr8:6480718 [GRCh38]
Chr8:6338239 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.2400C>A (p.Tyr800Ter) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV002266653] Chr8:6621639 [GRCh38]
Chr8:6479160 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.477del (p.Ser159_Leu160insTer) deletion Microcephaly 1, primary, autosomal recessive [RCV002283642] Chr8:6438993 [GRCh38]
Chr8:6296514 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_001118887.2(ANGPT2):c.322G>C (p.Glu108Gln) single nucleotide variant Inborn genetic diseases [RCV003284976] Chr8:6532454 [GRCh38]
Chr8:6389975 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1921G>A (p.Gly641Arg) single nucleotide variant not provided [RCV003129545] Chr8:6455238 [GRCh38]
Chr8:6312759 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV002472049] Chr8:6414858 [GRCh38]
Chr8:6272379 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.261T>G (p.Asp87Glu) single nucleotide variant not provided [RCV002837751] Chr8:6431526 [GRCh38]
Chr8:6289047 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1935+6T>C single nucleotide variant Inborn genetic diseases [RCV002573619]|Microcephaly 1, primary, autosomal recessive [RCV002471848] Chr8:6455258 [GRCh38]
Chr8:6312779 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1 copy number loss not provided [RCV002474566] Chr8:158049..10965627 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV002471958] Chr8:6455161 [GRCh38]
Chr8:6312682 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.322-2A>T single nucleotide variant not provided [RCV002462537] Chr8:6436046 [GRCh38]
Chr8:6293567 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2379C>T (p.Ala793=) single nucleotide variant not provided [RCV002838835] Chr8:6621618 [GRCh38]
Chr8:6479139 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2329G>A (p.Glu777Lys) single nucleotide variant Inborn genetic diseases [RCV002863977] Chr8:6621568 [GRCh38]
Chr8:6479089 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.437-3C>T single nucleotide variant not provided [RCV002996613] Chr8:6438950 [GRCh38]
Chr8:6296471 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.1423T>C (p.Tyr475His) single nucleotide variant Inborn genetic diseases [RCV002864611] Chr8:6503166 [GRCh38]
Chr8:6360687 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1777G>C (p.Glu593Gln) single nucleotide variant Inborn genetic diseases [RCV002865826] Chr8:6445499 [GRCh38]
Chr8:6303020 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.321+9A>C single nucleotide variant not provided [RCV002843210] Chr8:6431595 [GRCh38]
Chr8:6289116 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.322-12_322-11del deletion not provided [RCV002690381] Chr8:6436035..6436036 [GRCh38]
Chr8:6293556..6293557 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.322-2A>G single nucleotide variant not provided [RCV002970809] Chr8:6436046 [GRCh38]
Chr8:6293567 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.2215-2_2253dup duplication not provided [RCV002685640] Chr8:6621449..6621450 [GRCh38]
Chr8:6478970..6478971 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2354G>A (p.Arg785Gln) single nucleotide variant Inborn genetic diseases [RCV002617652]|not provided [RCV002617651] Chr8:6621593 [GRCh38]
Chr8:6479114 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_001118887.2(ANGPT2):c.630A>C (p.Lys210Asn) single nucleotide variant Inborn genetic diseases [RCV002777525] Chr8:6521347 [GRCh38]
Chr8:6378868 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1024C>T (p.His342Tyr) single nucleotide variant Inborn genetic diseases [RCV002969628] Chr8:6444746 [GRCh38]
Chr8:6302267 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.258T>G (p.Ile86Met) single nucleotide variant Inborn genetic diseases [RCV002817814] Chr8:6431523 [GRCh38]
Chr8:6289044 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2215-1_2215delinsTT indel not provided [RCV003015000] Chr8:6621453..6621454 [GRCh38]
Chr8:6478974..6478975 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1065G>T (p.Lys355Asn) single nucleotide variant not provided [RCV002994817] Chr8:6444787 [GRCh38]
Chr8:6302308 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.146dup (p.His49fs) duplication not provided [RCV002862687] Chr8:6414795..6414796 [GRCh38]
Chr8:6272316..6272317 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.1211C>T (p.Ala404Val) single nucleotide variant not provided [RCV002904477] Chr8:6444933 [GRCh38]
Chr8:6302454 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1421C>A (p.Thr474Asn) single nucleotide variant Inborn genetic diseases [RCV002729983] Chr8:6445143 [GRCh38]
Chr8:6302664 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.1105G>A (p.Val369Met) single nucleotide variant Inborn genetic diseases [RCV002732562] Chr8:6513769 [GRCh38]
Chr8:6371290 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1898C>T (p.Pro633Leu) single nucleotide variant Inborn genetic diseases [RCV002733202]|not provided [RCV003778583] Chr8:6455215 [GRCh38]
Chr8:6312736 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.114+5G>A single nucleotide variant MCPH1-related condition [RCV003916723]|not provided [RCV003076461] Chr8:6409375 [GRCh38]
Chr8:6266896 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.1256A>C (p.Asp419Ala) single nucleotide variant not provided [RCV002695968] Chr8:6444978 [GRCh38]
Chr8:6302499 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.221T>G (p.Leu74Arg) single nucleotide variant Inborn genetic diseases [RCV002707986] Chr8:6414871 [GRCh38]
Chr8:6272392 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.193A>G (p.Lys65Glu) single nucleotide variant not provided [RCV002949665] Chr8:6414843 [GRCh38]
Chr8:6272364 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1241A>G (p.Asp414Gly) single nucleotide variant Inborn genetic diseases [RCV002708123] Chr8:6444963 [GRCh38]
Chr8:6302484 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1441A>G (p.Ile481Val) single nucleotide variant Inborn genetic diseases [RCV002703654] Chr8:6445163 [GRCh38]
Chr8:6302684 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1306C>T (p.Pro436Ser) single nucleotide variant not provided [RCV002736332] Chr8:6445028 [GRCh38]
Chr8:6302549 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2136+10G>A single nucleotide variant not provided [RCV002659002] Chr8:6480886 [GRCh38]
Chr8:6338407 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.321+9A>G single nucleotide variant not provided [RCV002760926] Chr8:6431595 [GRCh38]
Chr8:6289116 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.602A>G (p.Lys201Arg) single nucleotide variant Inborn genetic diseases [RCV002910879] Chr8:6521375 [GRCh38]
Chr8:6378896 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2215-12_2215-9del microsatellite not provided [RCV002690989] Chr8:6621438..6621441 [GRCh38]
Chr8:6478959..6478962 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.581-14G>T single nucleotide variant not provided [RCV002695581] Chr8:6442053 [GRCh38]
Chr8:6299574 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2452+7del deletion not provided [RCV002639701] Chr8:6621697 [GRCh38]
Chr8:6479218 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.1927G>C (p.Gly643Arg) single nucleotide variant not provided [RCV002570990] Chr8:6455244 [GRCh38]
Chr8:6312765 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.659C>G (p.Thr220Ser) single nucleotide variant not provided [RCV002694911] Chr8:6442145 [GRCh38]
Chr8:6299666 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1194G>T (p.Ala398=) single nucleotide variant not provided [RCV002848243] Chr8:6444916 [GRCh38]
Chr8:6302437 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.165C>G (p.Gly55=) single nucleotide variant not provided [RCV003038401] Chr8:6414815 [GRCh38]
Chr8:6272336 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1141A>G (p.Ile381Val) single nucleotide variant Inborn genetic diseases [RCV002927083]|not provided [RCV002927082] Chr8:6444863 [GRCh38]
Chr8:6302384 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2294C>T (p.Ser765Leu) single nucleotide variant not provided [RCV002870779] Chr8:6621533 [GRCh38]
Chr8:6479054 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.649T>G (p.Ser217Ala) single nucleotide variant Inborn genetic diseases [RCV002884244] Chr8:6442135 [GRCh38]
Chr8:6299656 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.565A>G (p.Asn189Asp) single nucleotide variant Inborn genetic diseases [RCV002950502] Chr8:6439081 [GRCh38]
Chr8:6296602 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1995G>C (p.Gln665His) single nucleotide variant Inborn genetic diseases [RCV002844193] Chr8:6480735 [GRCh38]
Chr8:6338256 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.36T>C (p.Tyr12=) single nucleotide variant not provided [RCV002706622] Chr8:6409292 [GRCh38]
Chr8:6266813 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.182T>G (p.Val61Gly) single nucleotide variant Inborn genetic diseases [RCV002822797] Chr8:6562753 [GRCh38]
Chr8:6420274 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1996G>A (p.Val666Ile) single nucleotide variant Inborn genetic diseases [RCV002784951] Chr8:6480736 [GRCh38]
Chr8:6338257 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1197A>C (p.Gly399=) single nucleotide variant not provided [RCV003021469] Chr8:6444919 [GRCh38]
Chr8:6302440 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.605A>T (p.His202Leu) single nucleotide variant Inborn genetic diseases [RCV002659861] Chr8:6442091 [GRCh38]
Chr8:6299612 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1243T>G (p.Tyr415Asp) single nucleotide variant not provided [RCV002745627] Chr8:6444965 [GRCh38]
Chr8:6302486 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.425A>T (p.Lys142Ile) single nucleotide variant not provided [RCV002791500] Chr8:6436151 [GRCh38]
Chr8:6293672 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2453-10C>G single nucleotide variant not provided [RCV002805385] Chr8:6642984 [GRCh38]
Chr8:6500505 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_024596.5(MCPH1):c.22G>A (p.Asp8Asn) single nucleotide variant not provided [RCV002573813] Chr8:6406689 [GRCh38]
Chr8:6264210 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1345AAG[1] (p.Lys450del) microsatellite Inborn genetic diseases [RCV002697528] Chr8:6445067..6445069 [GRCh38]
Chr8:6302588..6302590 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2009T>G (p.Leu670Trp) single nucleotide variant Inborn genetic diseases [RCV002787797] Chr8:6480749 [GRCh38]
Chr8:6338270 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1953C>G (p.Val651=) single nucleotide variant not provided [RCV002642208] Chr8:6477611 [GRCh38]
Chr8:6335132 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.264A>C (p.Glu88Asp) single nucleotide variant Inborn genetic diseases [RCV002893561] Chr8:6431529 [GRCh38]
Chr8:6289050 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.556G>C (p.Asp186His) single nucleotide variant Inborn genetic diseases [RCV002641138] Chr8:6527565 [GRCh38]
Chr8:6385086 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.211G>A (p.Val71Ile) single nucleotide variant Inborn genetic diseases [RCV002665080] Chr8:6414861 [GRCh38]
Chr8:6272382 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.344A>T (p.Asp115Val) single nucleotide variant Inborn genetic diseases [RCV002709479] Chr8:6436070 [GRCh38]
Chr8:6293591 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1853A>C (p.Asp618Ala) single nucleotide variant Inborn genetic diseases [RCV002892636] Chr8:6455170 [GRCh38]
Chr8:6312691 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.569T>C (p.Leu190Pro) single nucleotide variant not provided [RCV002766801] Chr8:6439085 [GRCh38]
Chr8:6296606 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.199G>C (p.Gly67Arg) single nucleotide variant not provided [RCV002933062] Chr8:6414849 [GRCh38]
Chr8:6272370 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.233+6C>T single nucleotide variant not provided [RCV002667627] Chr8:6414889 [GRCh38]
Chr8:6272410 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2203C>T (p.Pro735Ser) single nucleotide variant not provided [RCV002573104] Chr8:6499918 [GRCh38]
Chr8:6357439 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1953C>T (p.Val651=) single nucleotide variant not provided [RCV003024078] Chr8:6477611 [GRCh38]
Chr8:6335132 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1190T>A (p.Val397Glu) single nucleotide variant not provided [RCV002624355] Chr8:6444912 [GRCh38]
Chr8:6302433 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2126C>T (p.Ser709Phe) single nucleotide variant not provided [RCV002573683] Chr8:6480866 [GRCh38]
Chr8:6338387 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1213C>T (p.Leu405Phe) single nucleotide variant not provided [RCV002626344] Chr8:6444935 [GRCh38]
Chr8:6302456 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.275C>T (p.Pro92Leu) single nucleotide variant Inborn genetic diseases [RCV002584351]|not provided [RCV002596690] Chr8:6431540 [GRCh38]
Chr8:6289061 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1935+8T>G single nucleotide variant not provided [RCV003041932] Chr8:6455260 [GRCh38]
Chr8:6312781 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.328T>C (p.Cys110Arg) single nucleotide variant Inborn genetic diseases [RCV002789715] Chr8:6436054 [GRCh38]
Chr8:6293575 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2310C>T (p.Pro770=) single nucleotide variant not provided [RCV002829974] Chr8:6621549 [GRCh38]
Chr8:6479070 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.526G>A (p.Asp176Asn) single nucleotide variant Inborn genetic diseases [RCV002929915] Chr8:6527595 [GRCh38]
Chr8:6385116 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.233+8G>T single nucleotide variant MCPH1-related condition [RCV003973699]|not provided [RCV002623680] Chr8:6414891 [GRCh38]
Chr8:6272412 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.68G>C (p.Arg23Pro) single nucleotide variant Inborn genetic diseases [RCV002850459] Chr8:6562867 [GRCh38]
Chr8:6420388 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2249C>G (p.Pro750Arg) single nucleotide variant Inborn genetic diseases [RCV003004129] Chr8:6621488 [GRCh38]
Chr8:6479009 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.649T>A (p.Ser217Thr) single nucleotide variant Inborn genetic diseases [RCV002641435] Chr8:6442135 [GRCh38]
Chr8:6299656 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2403C>T (p.Ser801=) single nucleotide variant not provided [RCV002594921] Chr8:6621642 [GRCh38]
Chr8:6479163 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.461T>G (p.Phe154Cys) single nucleotide variant not provided [RCV002711543] Chr8:6438977 [GRCh38]
Chr8:6296498 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1326G>A (p.Leu442=) single nucleotide variant not provided [RCV003026476] Chr8:6445048 [GRCh38]
Chr8:6302569 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.987G>T (p.Lys329Asn) single nucleotide variant not provided [RCV003049301] Chr8:6444709 [GRCh38]
Chr8:6302230 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1825+15T>C single nucleotide variant not provided [RCV002581145] Chr8:6445562 [GRCh38]
Chr8:6303083 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1917A>C (p.Lys639Asn) single nucleotide variant Inborn genetic diseases [RCV002878812] Chr8:6455234 [GRCh38]
Chr8:6312755 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2386G>A (p.Val796Ile) single nucleotide variant not provided [RCV002582130] Chr8:6621625 [GRCh38]
Chr8:6479146 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1372A>G (p.Met458Val) single nucleotide variant Inborn genetic diseases [RCV002746921] Chr8:6445094 [GRCh38]
Chr8:6302615 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.223T>G (p.Trp75Gly) single nucleotide variant Inborn genetic diseases [RCV002832022] Chr8:6414873 [GRCh38]
Chr8:6272394 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.961A>C (p.Met321Leu) single nucleotide variant not provided [RCV002807035] Chr8:6444683 [GRCh38]
Chr8:6302204 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.821T>C (p.Ile274Thr) single nucleotide variant not provided [RCV003087359] Chr8:6444543 [GRCh38]
Chr8:6302064 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1136G>T (p.Arg379Ile) single nucleotide variant not provided [RCV002962726]|not specified [RCV003317633] Chr8:6444858 [GRCh38]
Chr8:6302379 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1552G>T (p.Ala518Ser) single nucleotide variant not provided [RCV002675781] Chr8:6445274 [GRCh38]
Chr8:6302795 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.204A>G (p.Val68=) single nucleotide variant not provided [RCV002581144] Chr8:6414854 [GRCh38]
Chr8:6272375 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2418C>G (p.Ala806=) single nucleotide variant not provided [RCV002675823] Chr8:6621657 [GRCh38]
Chr8:6479178 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.543A>G (p.Gln181=) single nucleotide variant not provided [RCV002597643] Chr8:6439059 [GRCh38]
Chr8:6296580 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1092T>G (p.His364Gln) single nucleotide variant not provided [RCV002806957] Chr8:6444814 [GRCh38]
Chr8:6302335 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2426A>C (p.Lys809Thr) single nucleotide variant not provided [RCV002632649] Chr8:6621665 [GRCh38]
Chr8:6479186 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.610A>G (p.Asn204Asp) single nucleotide variant Inborn genetic diseases [RCV002832277] Chr8:6442096 [GRCh38]
Chr8:6299617 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.322-17G>A single nucleotide variant not provided [RCV002576725] Chr8:6436031 [GRCh38]
Chr8:6293552 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.653G>A (p.Arg218His) single nucleotide variant Inborn genetic diseases [RCV002920335] Chr8:6442139 [GRCh38]
Chr8:6299660 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1486del (p.Ser496fs) deletion not provided [RCV002577368] Chr8:6445207 [GRCh38]
Chr8:6302728 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1939A>T (p.Thr647Ser) single nucleotide variant Inborn genetic diseases [RCV002807554] Chr8:6477597 [GRCh38]
Chr8:6335118 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2214+1_2214+3delinsTGC indel not provided [RCV003048609] Chr8:6499930..6499932 [GRCh38]
Chr8:6357451..6357453 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.292G>A (p.Glu98Lys) single nucleotide variant Inborn genetic diseases [RCV002944635] Chr8:6532484 [GRCh38]
Chr8:6390005 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.218T>G (p.Val73Gly) single nucleotide variant Inborn genetic diseases [RCV002722720] Chr8:6414868 [GRCh38]
Chr8:6272389 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1487C>T (p.Ser496Leu) single nucleotide variant Inborn genetic diseases [RCV002657077] Chr8:6445209 [GRCh38]
Chr8:6302730 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1025A>G (p.His342Arg) single nucleotide variant not provided [RCV002605485] Chr8:6444747 [GRCh38]
Chr8:6302268 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1974-11C>G single nucleotide variant not provided [RCV002587499] Chr8:6480703 [GRCh38]
Chr8:6338224 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.694C>G (p.His232Asp) single nucleotide variant not provided [RCV002587502] Chr8:6444416 [GRCh38]
Chr8:6301937 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.294A>G (p.Glu98=) single nucleotide variant not provided [RCV003072541] Chr8:6431559 [GRCh38]
Chr8:6289080 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1442T>C (p.Ile481Thr) single nucleotide variant not provided [RCV002583102] Chr8:6445164 [GRCh38]
Chr8:6302685 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.173G>A (p.Ser58Asn) single nucleotide variant not provided [RCV002587732] Chr8:6414823 [GRCh38]
Chr8:6272344 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.222C>G (p.Leu74=) single nucleotide variant not provided [RCV002680864] Chr8:6414872 [GRCh38]
Chr8:6272393 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.115-13A>G single nucleotide variant not provided [RCV002608994] Chr8:6414752 [GRCh38]
Chr8:6272273 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2215-19_2215-16del deletion not provided [RCV002586761] Chr8:6621432..6621435 [GRCh38]
Chr8:6478953..6478956 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1974-11C>T single nucleotide variant not provided [RCV002608140] Chr8:6480703 [GRCh38]
Chr8:6338224 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1244A>G (p.Tyr415Cys) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV003132615] Chr8:6444966 [GRCh38]
Chr8:6302487 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.713C>T (p.Thr238Met) single nucleotide variant Inborn genetic diseases [RCV003279491] Chr8:6521264 [GRCh38]
Chr8:6378785 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1139C>A (p.Ser380Tyr) single nucleotide variant Inborn genetic diseases [RCV003211855] Chr8:6444861 [GRCh38]
Chr8:6302382 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2136+1G>T single nucleotide variant Autosomal recessive primary microcephaly [RCV003226848] Chr8:6480877 [GRCh38]
Chr8:6338398 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.1454G>A (p.Arg485Gln) single nucleotide variant Inborn genetic diseases [RCV003211286] Chr8:6445176 [GRCh38]
Chr8:6302697 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1682C>G (p.Thr561Arg) single nucleotide variant Inborn genetic diseases [RCV003199624] Chr8:6445404 [GRCh38]
Chr8:6302925 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.306C>G (p.Ser102Arg) single nucleotide variant Inborn genetic diseases [RCV003199625] Chr8:6431571 [GRCh38]
Chr8:6289092 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2214+1G>A single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV003142376] Chr8:6499930 [GRCh38]
Chr8:6357451 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_001118887.2(ANGPT2):c.374T>C (p.Ile125Thr) single nucleotide variant Inborn genetic diseases [RCV003184144] Chr8:6532402 [GRCh38]
Chr8:6389923 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.256A>T (p.Ile86Phe) single nucleotide variant Inborn genetic diseases [RCV003260700] Chr8:6562679 [GRCh38]
Chr8:6420200 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1594C>A (p.Pro532Thr) single nucleotide variant not provided [RCV003325130] Chr8:6445316 [GRCh38]
Chr8:6302837 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1 copy number loss See cases [RCV003329533] Chr8:10501..11142629 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1 copy number loss See cases [RCV003329559] Chr8:10501..6614959 [GRCh37]
Chr8:8p23.3-23.1		 likely pathogenic
NM_024596.5(MCPH1):c.1829T>G (p.Val610Gly) single nucleotide variant Inborn genetic diseases [RCV003359230] Chr8:6455146 [GRCh38]
Chr8:6312667 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2404G>T (p.Gly802Ter) single nucleotide variant Autosomal recessive primary microcephaly [RCV003331594] Chr8:6621643 [GRCh38]
Chr8:6479164 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_001118887.2(ANGPT2):c.982G>A (p.Glu328Lys) single nucleotide variant Inborn genetic diseases [RCV003376641] Chr8:6514724 [GRCh38]
Chr8:6372245 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1493G>C (p.Cys498Ser) single nucleotide variant Inborn genetic diseases [RCV003367232] Chr8:6445215 [GRCh38]
Chr8:6302736 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2462C>G (p.Thr821Ser) single nucleotide variant Inborn genetic diseases [RCV003369800] Chr8:6643003 [GRCh38]
Chr8:6500524 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.671A>T (p.Asp224Val) single nucleotide variant Inborn genetic diseases [RCV003369801] Chr8:6444393 [GRCh38]
Chr8:6301914 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2035G>A (p.Val679Ile) single nucleotide variant Inborn genetic diseases [RCV003351537] Chr8:6480775 [GRCh38]
Chr8:6338296 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.161G>T (p.Arg54Leu) single nucleotide variant Inborn genetic diseases [RCV003367210] Chr8:6562774 [GRCh38]
Chr8:6420295 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2499G>A (p.Leu833=) single nucleotide variant not provided [RCV003873448] Chr8:6643040 [GRCh38]
Chr8:6500561 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2037C>G (p.Val679=) single nucleotide variant not provided [RCV003873510] Chr8:6480777 [GRCh38]
Chr8:6338298 [GRCh37]
Chr8:8p23.1		 likely benign
GRCh37/hg19 8p23.2-23.1(chr8:6016801-6999114)x3 copy number gain not provided [RCV003484717] Chr8:6016801..6999114 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
NM_024596.5(MCPH1):c.1551C>T (p.Asp517=) single nucleotide variant not provided [RCV003874967] Chr8:6445273 [GRCh38]
Chr8:6302794 [GRCh37]
Chr8:8p23.1		 likely benign
GRCh37/hg19 8p23.2-23.1(chr8:6112580-6498511)x1 copy number loss not provided [RCV003483012] Chr8:6112580..6498511 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
NM_024596.5(MCPH1):c.1155G>A (p.Leu385=) single nucleotide variant not provided [RCV003874671] Chr8:6444877 [GRCh38]
Chr8:6302398 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1476C>T (p.Gly492=) single nucleotide variant not provided [RCV003543535] Chr8:6445198 [GRCh38]
Chr8:6302719 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.23-829_28del deletion not provided [RCV003686339] Chr8:6408450..6409284 [GRCh38]
Chr8:6265971..6266805 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.2397C>A (p.Pro799=) single nucleotide variant not provided [RCV003570920] Chr8:6621636 [GRCh38]
Chr8:6479157 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1800A>G (p.Glu600=) single nucleotide variant not provided [RCV003543504] Chr8:6445522 [GRCh38]
Chr8:6303043 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2214+20A>G single nucleotide variant not provided [RCV003569097] Chr8:6499949 [GRCh38]
Chr8:6357470 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1275T>C (p.Tyr425=) single nucleotide variant not provided [RCV003571083] Chr8:6444997 [GRCh38]
Chr8:6302518 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1386C>T (p.Ser462=) single nucleotide variant not provided [RCV003543612] Chr8:6445108 [GRCh38]
Chr8:6302629 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.639T>G (p.Pro213=) single nucleotide variant not provided [RCV003543563] Chr8:6442125 [GRCh38]
Chr8:6299646 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.114+7C>T single nucleotide variant not provided [RCV003543869] Chr8:6409377 [GRCh38]
Chr8:6266898 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.87A>C (p.Thr29=) single nucleotide variant not provided [RCV003569323] Chr8:6409343 [GRCh38]
Chr8:6266864 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2137-11G>A single nucleotide variant not provided [RCV003569034] Chr8:6499841 [GRCh38]
Chr8:6357362 [GRCh37]
Chr8:8p23.1		 likely benign
GRCh37/hg19 8p23.3-23.1(chr8:158049-7044046)x3 copy number gain not provided [RCV003484711] Chr8:158049..7044046 [GRCh37]
Chr8:8p23.3-23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1 copy number loss not provided [RCV003482999] Chr8:158049..11898696 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
Single allele deletion not provided [RCV003448707] Chr8:162266..7226691 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1 copy number loss not provided [RCV003482997] Chr8:158049..8093066 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1 copy number loss not provided [RCV003482998] Chr8:158049..10007143 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1 copy number loss not provided [RCV003483000] Chr8:158049..8192683 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.33C>G (p.Ala11=) single nucleotide variant not provided [RCV003423891] Chr8:6409289 [GRCh38]
Chr8:6266810 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.698C>A (p.Ser233Ter) single nucleotide variant Autosomal recessive primary microcephaly [RCV003487262] Chr8:6444420 [GRCh38]
Chr8:6301941 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2452+4309G>A single nucleotide variant not provided [RCV003435418] Chr8:6626000 [GRCh38]
Chr8:6483521 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.957A>G (p.Ala319=) single nucleotide variant not provided [RCV003457158] Chr8:6444679 [GRCh38]
Chr8:6302200 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2422G>A (p.Val808Ile) single nucleotide variant not specified [RCV003405144] Chr8:6621661 [GRCh38]
Chr8:6479182 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.2215-1G>T single nucleotide variant MCPH1-related condition [RCV003405802] Chr8:6621453 [GRCh38]
Chr8:6478974 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.2142A>G (p.Leu714=) single nucleotide variant not provided [RCV003849126] Chr8:6499857 [GRCh38]
Chr8:6357378 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2452+10C>T single nucleotide variant not provided [RCV003849127] Chr8:6621701 [GRCh38]
Chr8:6479222 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2337C>T (p.Val779=) single nucleotide variant not provided [RCV003826748] Chr8:6621576 [GRCh38]
Chr8:6479097 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.580+12G>A single nucleotide variant not provided [RCV003689839] Chr8:6439108 [GRCh38]
Chr8:6296629 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2136+8C>A single nucleotide variant not provided [RCV003828455] Chr8:6480884 [GRCh38]
Chr8:6338405 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2076T>G (p.Leu692=) single nucleotide variant not provided [RCV003831217] Chr8:6480816 [GRCh38]
Chr8:6338337 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.671-15G>A single nucleotide variant not provided [RCV003881537] Chr8:6444378 [GRCh38]
Chr8:6301899 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2391C>T (p.Ile797=) single nucleotide variant not provided [RCV003739817] Chr8:6621630 [GRCh38]
Chr8:6479151 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.581-7T>C single nucleotide variant not provided [RCV003693474] Chr8:6442060 [GRCh38]
Chr8:6299581 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1728C>G (p.Gly576=) single nucleotide variant not provided [RCV003577396] Chr8:6445450 [GRCh38]
Chr8:6302971 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1506C>G (p.Ala502=) single nucleotide variant not provided [RCV003848926] Chr8:6445228 [GRCh38]
Chr8:6302749 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.147C>T (p.His49=) single nucleotide variant not provided [RCV003740135] Chr8:6414797 [GRCh38]
Chr8:6272318 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2452+17A>G single nucleotide variant not provided [RCV003690342] Chr8:6621708 [GRCh38]
Chr8:6479229 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.843T>C (p.Thr281=) single nucleotide variant not provided [RCV003689276] Chr8:6444565 [GRCh38]
Chr8:6302086 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2064C>G (p.Ser688=) single nucleotide variant not provided [RCV003578631] Chr8:6480804 [GRCh38]
Chr8:6338325 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.437-19A>G single nucleotide variant not provided [RCV003849207] Chr8:6438934 [GRCh38]
Chr8:6296455 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2502A>C (p.Ser834=) single nucleotide variant not provided [RCV003824954] Chr8:6643043 [GRCh38]
Chr8:6500564 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1152G>A (p.Arg384=) single nucleotide variant not provided [RCV003695053] Chr8:6444874 [GRCh38]
Chr8:6302395 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2214+10A>T single nucleotide variant not provided [RCV003696449] Chr8:6499939 [GRCh38]
Chr8:6357460 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1038T>C (p.His346=) single nucleotide variant not provided [RCV003579364] Chr8:6444760 [GRCh38]
Chr8:6302281 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1936-15G>A single nucleotide variant not provided [RCV003579155] Chr8:6477579 [GRCh38]
Chr8:6335100 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1749G>A (p.Glu583=) single nucleotide variant not provided [RCV003693089] Chr8:6445471 [GRCh38]
Chr8:6302992 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1611A>G (p.Gly537=) single nucleotide variant not provided [RCV003715054] Chr8:6445333 [GRCh38]
Chr8:6302854 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.94del (p.Val33fs) deletion not provided [RCV003688051] Chr8:6409350 [GRCh38]
Chr8:6266871 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.1973+16G>C single nucleotide variant not provided [RCV003715759] Chr8:6477647 [GRCh38]
Chr8:6335168 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1893C>A (p.Ile631=) single nucleotide variant not provided [RCV003882583] Chr8:6455210 [GRCh38]
Chr8:6312731 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2067G>A (p.Gly689=) single nucleotide variant not provided [RCV003688159] Chr8:6480807 [GRCh38]
Chr8:6338328 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.23-8G>C single nucleotide variant not provided [RCV003715769] Chr8:6409271 [GRCh38]
Chr8:6266792 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.456C>T (p.Leu152=) single nucleotide variant not provided [RCV003825690] Chr8:6438972 [GRCh38]
Chr8:6296493 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.322-18T>A single nucleotide variant not provided [RCV003576640] Chr8:6436030 [GRCh38]
Chr8:6293551 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.576C>G (p.Pro192=) single nucleotide variant not provided [RCV003827563] Chr8:6439092 [GRCh38]
Chr8:6296613 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.120A>G (p.Ser40=) single nucleotide variant not provided [RCV003824774] Chr8:6414770 [GRCh38]
Chr8:6272291 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1936-16T>G single nucleotide variant not provided [RCV003695104] Chr8:6477578 [GRCh38]
Chr8:6335099 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.322-12_322-10del deletion not provided [RCV003577566] Chr8:6436034..6436036 [GRCh38]
Chr8:6293555..6293557 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1826-15C>A single nucleotide variant not provided [RCV003694578] Chr8:6455128 [GRCh38]
Chr8:6312649 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2215-13G>A single nucleotide variant not provided [RCV003694596] Chr8:6621441 [GRCh38]
Chr8:6478962 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.437-20G>T single nucleotide variant not provided [RCV003692805] Chr8:6438933 [GRCh38]
Chr8:6296454 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.437-19A>T single nucleotide variant not provided [RCV003713983] Chr8:6438934 [GRCh38]
Chr8:6296455 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.525A>C (p.Ala175=) single nucleotide variant not provided [RCV003577433] Chr8:6439041 [GRCh38]
Chr8:6296562 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1647T>G (p.Leu549=) single nucleotide variant not provided [RCV003660253] Chr8:6445369 [GRCh38]
Chr8:6302890 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2268T>C (p.Phe756=) single nucleotide variant not provided [RCV003573318] Chr8:6621507 [GRCh38]
Chr8:6479028 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2453-17T>C single nucleotide variant not provided [RCV003824472] Chr8:6642977 [GRCh38]
Chr8:6500498 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2282_2283delinsTA (p.Ala761Val) indel not provided [RCV003690482] Chr8:6621521..6621522 [GRCh38]
Chr8:6479042..6479043 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.595C>T (p.Gln199Ter) single nucleotide variant not provided [RCV003691628] Chr8:6442081 [GRCh38]
Chr8:6299602 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2178G>A (p.Glu726=) single nucleotide variant not provided [RCV003691687] Chr8:6499893 [GRCh38]
Chr8:6357414 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.580+17T>A single nucleotide variant not provided [RCV003693471] Chr8:6439113 [GRCh38]
Chr8:6296634 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2196C>T (p.His732=) single nucleotide variant not provided [RCV003694335] Chr8:6499911 [GRCh38]
Chr8:6357432 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1500T>G (p.Thr500=) single nucleotide variant not provided [RCV003696267] Chr8:6445222 [GRCh38]
Chr8:6302743 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.437-12G>C single nucleotide variant not provided [RCV003578297] Chr8:6438941 [GRCh38]
Chr8:6296462 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.115-15G>A single nucleotide variant not provided [RCV003695184] Chr8:6414750 [GRCh38]
Chr8:6272271 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.54C>T (p.Ser18=) single nucleotide variant not provided [RCV003544532] Chr8:6409310 [GRCh38]
Chr8:6266831 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.114+13T>G single nucleotide variant not provided [RCV003688554] Chr8:6409383 [GRCh38]
Chr8:6266904 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.99G>A (p.Val33=) single nucleotide variant not provided [RCV003662479] Chr8:6409355 [GRCh38]
Chr8:6266876 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2112C>A (p.Gly704=) single nucleotide variant not provided [RCV003686587] Chr8:6480852 [GRCh38]
Chr8:6338373 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.115-5T>C single nucleotide variant not provided [RCV003546162] Chr8:6414760 [GRCh38]
Chr8:6272281 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.322-13T>C single nucleotide variant not provided [RCV003578929] Chr8:6436035 [GRCh38]
Chr8:6293556 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2082C>G (p.Thr694=) single nucleotide variant not provided [RCV003714295] Chr8:6480822 [GRCh38]
Chr8:6338343 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1296A>G (p.Glu432=) single nucleotide variant not provided [RCV003690599] Chr8:6445018 [GRCh38]
Chr8:6302539 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.873del (p.Phe291_Leu292insTer) deletion not provided [RCV003578726] Chr8:6444593 [GRCh38]
Chr8:6302114 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.733G>T (p.Gly245Ter) single nucleotide variant not provided [RCV003688175] Chr8:6444455 [GRCh38]
Chr8:6301976 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.114+8_114+9del microsatellite not provided [RCV003662670] Chr8:6409376..6409377 [GRCh38]
Chr8:6266897..6266898 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1159C>T (p.Leu387=) single nucleotide variant not provided [RCV003739722] Chr8:6444881 [GRCh38]
Chr8:6302402 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2265C>G (p.Leu755=) single nucleotide variant not provided [RCV003826569] Chr8:6621504 [GRCh38]
Chr8:6479025 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.671-20T>C single nucleotide variant not provided [RCV003689741] Chr8:6444373 [GRCh38]
Chr8:6301894 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.234-10A>C single nucleotide variant not provided [RCV003739816] Chr8:6431489 [GRCh38]
Chr8:6289010 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1826-17A>G single nucleotide variant not provided [RCV003662135] Chr8:6455126 [GRCh38]
Chr8:6312647 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.22+8A>G single nucleotide variant not provided [RCV003691998] Chr8:6406697 [GRCh38]
Chr8:6264218 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1791A>G (p.Glu597=) single nucleotide variant not provided [RCV003694667] Chr8:6445513 [GRCh38]
Chr8:6303034 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2453-19C>T single nucleotide variant MCPH1-related condition [RCV003909212]|not provided [RCV003882415] Chr8:6642975 [GRCh38]
Chr8:6500496 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.942C>T (p.Asp314=) single nucleotide variant not provided [RCV003880890] Chr8:6444664 [GRCh38]
Chr8:6302185 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1188C>T (p.His396=) single nucleotide variant not provided [RCV003880312] Chr8:6444910 [GRCh38]
Chr8:6302431 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1875C>T (p.Asp625=) single nucleotide variant not provided [RCV003880321] Chr8:6455192 [GRCh38]
Chr8:6312713 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1968A>G (p.Pro656=) single nucleotide variant not provided [RCV003691081] Chr8:6477626 [GRCh38]
Chr8:6335147 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.322-14T>C single nucleotide variant not provided [RCV003686834] Chr8:6436034 [GRCh38]
Chr8:6293555 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.364G>T (p.Glu122Ter) single nucleotide variant not provided [RCV003573713] Chr8:6436090 [GRCh38]
Chr8:6293611 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.114+12A>G single nucleotide variant not provided [RCV003881533] Chr8:6409382 [GRCh38]
Chr8:6266903 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.633A>G (p.Glu211=) single nucleotide variant not provided [RCV003576342] Chr8:6442119 [GRCh38]
Chr8:6299640 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.114+18C>A single nucleotide variant not provided [RCV003691757] Chr8:6409388 [GRCh38]
Chr8:6266909 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.510T>C (p.Ser170=) single nucleotide variant not provided [RCV003692314] Chr8:6439026 [GRCh38]
Chr8:6296547 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.45G>T (p.Val15=) single nucleotide variant not provided [RCV003692734] Chr8:6409301 [GRCh38]
Chr8:6266822 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1422C>G (p.Thr474=) single nucleotide variant not provided [RCV003691874] Chr8:6445144 [GRCh38]
Chr8:6302665 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2397C>G (p.Pro799=) single nucleotide variant not provided [RCV003878623] Chr8:6621636 [GRCh38]
Chr8:6479157 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2452+14CA[2] microsatellite not provided [RCV003713735] Chr8:6621705..6621706 [GRCh38]
Chr8:6479226..6479227 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1311A>C (p.Ser437=) single nucleotide variant not provided [RCV003876935] Chr8:6445033 [GRCh38]
Chr8:6302554 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1936-12del deletion not provided [RCV003688539] Chr8:6477580 [GRCh38]
Chr8:6335101 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1065G>A (p.Lys355=) single nucleotide variant not provided [RCV003824914] Chr8:6444787 [GRCh38]
Chr8:6302308 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2136+15T>C single nucleotide variant not provided [RCV003663399] Chr8:6480891 [GRCh38]
Chr8:6338412 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2496A>G (p.Leu832=) single nucleotide variant not provided [RCV003543973] Chr8:6643037 [GRCh38]
Chr8:6500558 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1707A>G (p.Lys569=) single nucleotide variant not provided [RCV003686683] Chr8:6445429 [GRCh38]
Chr8:6302950 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2214+12G>A single nucleotide variant not provided [RCV003712878] Chr8:6499941 [GRCh38]
Chr8:6357462 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1944A>G (p.Arg648=) single nucleotide variant not provided [RCV003877470] Chr8:6477602 [GRCh38]
Chr8:6335123 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.115-6C>T single nucleotide variant not provided [RCV003715709] Chr8:6414759 [GRCh38]
Chr8:6272280 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.580+21del deletion not provided [RCV003661316] Chr8:6439114 [GRCh38]
Chr8:6296635 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.414A>G (p.Leu138=) single nucleotide variant not provided [RCV003852209] Chr8:6436140 [GRCh38]
Chr8:6293661 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1125G>A (p.Arg375=) single nucleotide variant not provided [RCV003811033] Chr8:6444847 [GRCh38]
Chr8:6302368 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2430T>C (p.Tyr810=) single nucleotide variant not provided [RCV003699712] Chr8:6621669 [GRCh38]
Chr8:6479190 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2124C>G (p.Leu708=) single nucleotide variant not provided [RCV003835377] Chr8:6480864 [GRCh38]
Chr8:6338385 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.23-10_23-9del deletion not provided [RCV003579506] Chr8:6409269..6409270 [GRCh38]
Chr8:6266790..6266791 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.22+2T>C single nucleotide variant not provided [RCV003659044] Chr8:6406691 [GRCh38]
Chr8:6264212 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.1354A>C (p.Arg452=) single nucleotide variant not provided [RCV003665514] Chr8:6445076 [GRCh38]
Chr8:6302597 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2160T>A (p.Gly720=) single nucleotide variant not provided [RCV003811424] Chr8:6499875 [GRCh38]
Chr8:6357396 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1032G>A (p.Leu344=) single nucleotide variant not provided [RCV003833107] Chr8:6444754 [GRCh38]
Chr8:6302275 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.114+10T>C single nucleotide variant not provided [RCV003851567] Chr8:6409380 [GRCh38]
Chr8:6266901 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2092C>T (p.Leu698=) single nucleotide variant not provided [RCV003834102] Chr8:6480832 [GRCh38]
Chr8:6338353 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1938A>T (p.Pro646=) single nucleotide variant not provided [RCV003835221] Chr8:6477596 [GRCh38]
Chr8:6335117 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.234-6A>T single nucleotide variant not provided [RCV003832065] Chr8:6431493 [GRCh38]
Chr8:6289014 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.114+9C>G single nucleotide variant not provided [RCV003851706] Chr8:6409379 [GRCh38]
Chr8:6266900 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2361C>T (p.Ser787=) single nucleotide variant not provided [RCV003836108] Chr8:6621600 [GRCh38]
Chr8:6479121 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1672C>T (p.Leu558=) single nucleotide variant not provided [RCV003549377] Chr8:6445394 [GRCh38]
Chr8:6302915 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.571del (p.Ser191fs) deletion not provided [RCV003834241] Chr8:6439085 [GRCh38]
Chr8:6296606 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.233+19A>C single nucleotide variant not provided [RCV003851846] Chr8:6414902 [GRCh38]
Chr8:6272423 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.233+8G>C single nucleotide variant not provided [RCV003717392] Chr8:6414891 [GRCh38]
Chr8:6272412 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1270A>C (p.Arg424=) single nucleotide variant not provided [RCV003835797] Chr8:6444992 [GRCh38]
Chr8:6302513 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.805T>C (p.Leu269=) single nucleotide variant not provided [RCV003836218] Chr8:6444527 [GRCh38]
Chr8:6302048 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.233+9T>G single nucleotide variant not provided [RCV003835275] Chr8:6414892 [GRCh38]
Chr8:6272413 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.233+14_233+17del microsatellite not provided [RCV003702879] Chr8:6414894..6414897 [GRCh38]
Chr8:6272415..6272418 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2137-19C>G single nucleotide variant not provided [RCV003558209] Chr8:6499833 [GRCh38]
Chr8:6357354 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.90A>T (p.Thr30=) single nucleotide variant not provided [RCV003725546] Chr8:6409346 [GRCh38]
Chr8:6266867 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.23-4T>C single nucleotide variant not provided [RCV003697745] Chr8:6409275 [GRCh38]
Chr8:6266796 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.234-19C>T single nucleotide variant not provided [RCV003811275] Chr8:6431480 [GRCh38]
Chr8:6289001 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2452+11A>C single nucleotide variant not provided [RCV003558335] Chr8:6621702 [GRCh38]
Chr8:6479223 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2367C>A (p.Val789=) single nucleotide variant not provided [RCV003839708] Chr8:6621606 [GRCh38]
Chr8:6479127 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1164C>T (p.Cys388=) single nucleotide variant not provided [RCV003726551] Chr8:6444886 [GRCh38]
Chr8:6302407 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2136+19C>T single nucleotide variant not provided [RCV003703515] Chr8:6480895 [GRCh38]
Chr8:6338416 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.580+8_580+11del deletion not provided [RCV003665433] Chr8:6439102..6439105 [GRCh38]
Chr8:6296623..6296626 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1825+16T>C single nucleotide variant not provided [RCV003673680] Chr8:6445563 [GRCh38]
Chr8:6303084 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.114+8A>G single nucleotide variant not provided [RCV003673690] Chr8:6409378 [GRCh38]
Chr8:6266899 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1974-13C>G single nucleotide variant not provided [RCV003840451] Chr8:6480701 [GRCh38]
Chr8:6338222 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2332C>T (p.Leu778=) single nucleotide variant not provided [RCV003849965] Chr8:6621571 [GRCh38]
Chr8:6479092 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1042A>C (p.Arg348=) single nucleotide variant not provided [RCV003817146] Chr8:6444764 [GRCh38]
Chr8:6302285 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2490C>T (p.Asn830=) single nucleotide variant not provided [RCV003674270] Chr8:6643031 [GRCh38]
Chr8:6500552 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2214+15G>A single nucleotide variant not provided [RCV003703685] Chr8:6499944 [GRCh38]
Chr8:6357465 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.111A>C (p.Ala37=) single nucleotide variant not provided [RCV003549665] Chr8:6409367 [GRCh38]
Chr8:6266888 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1973+19T>C single nucleotide variant not provided [RCV003700482] Chr8:6477650 [GRCh38]
Chr8:6335171 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2095C>T (p.Leu699=) single nucleotide variant not provided [RCV003674419] Chr8:6480835 [GRCh38]
Chr8:6338356 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1156C>T (p.Gln386Ter) single nucleotide variant not provided [RCV003672600] Chr8:6444878 [GRCh38]
Chr8:6302399 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.233+11TC[2] microsatellite not provided [RCV003723804] Chr8:6414894..6414895 [GRCh38]
Chr8:6272415..6272416 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1014A>C (p.Ser338=) single nucleotide variant not provided [RCV003816190] Chr8:6444736 [GRCh38]
Chr8:6302257 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.969G>A (p.Gln323=) single nucleotide variant not provided [RCV003668644] Chr8:6444691 [GRCh38]
Chr8:6302212 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1324T>C (p.Leu442=) single nucleotide variant not provided [RCV003835608] Chr8:6445046 [GRCh38]
Chr8:6302567 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1488G>C (p.Ser496=) single nucleotide variant not provided [RCV003816254] Chr8:6445210 [GRCh38]
Chr8:6302731 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2453-12CT[6] microsatellite not provided [RCV003703724] Chr8:6642981..6642982 [GRCh38]
Chr8:6500502..6500503 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2137-19C>T single nucleotide variant not provided [RCV003665207] Chr8:6499833 [GRCh38]
Chr8:6357354 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1500T>A (p.Thr500=) single nucleotide variant not provided [RCV003702533] Chr8:6445222 [GRCh38]
Chr8:6302743 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2453-4C>G single nucleotide variant not provided [RCV003672862] Chr8:6642990 [GRCh38]
Chr8:6500511 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.174C>T (p.Ser58=) single nucleotide variant not provided [RCV003664223] Chr8:6414824 [GRCh38]
Chr8:6272345 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2460C>T (p.Ile820=) single nucleotide variant not provided [RCV003549341] Chr8:6643001 [GRCh38]
Chr8:6500522 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2215-20T>C single nucleotide variant not provided [RCV003834689] Chr8:6621434 [GRCh38]
Chr8:6478955 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1936-15G>C single nucleotide variant not provided [RCV003674327] Chr8:6477579 [GRCh38]
Chr8:6335100 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.327A>G (p.Lys109=) single nucleotide variant not provided [RCV003697594] Chr8:6436053 [GRCh38]
Chr8:6293574 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.834A>G (p.Pro278=) single nucleotide variant not provided [RCV003839973] Chr8:6444556 [GRCh38]
Chr8:6302077 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.115-4A>G single nucleotide variant not provided [RCV003699255] Chr8:6414761 [GRCh38]
Chr8:6272282 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.114+20G>T single nucleotide variant not provided [RCV003833975] Chr8:6409390 [GRCh38]
Chr8:6266911 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1974-10G>T single nucleotide variant not provided [RCV003671666] Chr8:6480704 [GRCh38]
Chr8:6338225 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.423A>G (p.Gln141=) single nucleotide variant not provided [RCV003668792] Chr8:6436149 [GRCh38]
Chr8:6293670 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.189T>A (p.Ala63=) single nucleotide variant not provided [RCV003725599] Chr8:6414839 [GRCh38]
Chr8:6272360 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.119C>G (p.Ser40Ter) single nucleotide variant not provided [RCV003670181] Chr8:6414769 [GRCh38]
Chr8:6272290 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2155T>C (p.Leu719=) single nucleotide variant not provided [RCV003671725] Chr8:6499870 [GRCh38]
Chr8:6357391 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.348del (p.Phe116fs) deletion not provided [RCV003726567] Chr8:6436071 [GRCh38]
Chr8:6293592 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.234-6A>G single nucleotide variant not provided [RCV003723880] Chr8:6431493 [GRCh38]
Chr8:6289014 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1973+17A>G single nucleotide variant not provided [RCV003670288] Chr8:6477648 [GRCh38]
Chr8:6335169 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.233+12C>G single nucleotide variant not provided [RCV003723341] Chr8:6414895 [GRCh38]
Chr8:6272416 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.321+2T>C single nucleotide variant not provided [RCV003814843] Chr8:6431588 [GRCh38]
Chr8:6289109 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.1512A>G (p.Glu504=) single nucleotide variant not provided [RCV003816435] Chr8:6445234 [GRCh38]
Chr8:6302755 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1017A>G (p.Thr339=) single nucleotide variant not provided [RCV003666393] Chr8:6444739 [GRCh38]
Chr8:6302260 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2205T>C (p.Pro735=) single nucleotide variant not provided [RCV003833348] Chr8:6499920 [GRCh38]
Chr8:6357441 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.76_77del (p.Lys26fs) deletion not provided [RCV003703082] Chr8:6409331..6409332 [GRCh38]
Chr8:6266852..6266853 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.1974-11del deletion not provided [RCV003673194] Chr8:6480699 [GRCh38]
Chr8:6338220 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.681T>C (p.Phe227=) single nucleotide variant not provided [RCV003673202] Chr8:6444403 [GRCh38]
Chr8:6301924 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.486T>C (p.Tyr162=) single nucleotide variant not provided [RCV003581016] Chr8:6439002 [GRCh38]
Chr8:6296523 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.9C>G (p.Ala3=) single nucleotide variant not provided [RCV003855679] Chr8:6406676 [GRCh38]
Chr8:6264197 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.366A>G (p.Glu122=) single nucleotide variant not provided [RCV003856241] Chr8:6436092 [GRCh38]
Chr8:6293613 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1936-4C>G single nucleotide variant not provided [RCV003817497] Chr8:6477590 [GRCh38]
Chr8:6335111 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.162T>C (p.Asp54=) single nucleotide variant not provided [RCV003701245] Chr8:6414812 [GRCh38]
Chr8:6272333 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.252A>G (p.Ala84=) single nucleotide variant not provided [RCV003560514] Chr8:6431517 [GRCh38]
Chr8:6289038 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1239T>C (p.Asp413=) single nucleotide variant not provided [RCV003666948] Chr8:6444961 [GRCh38]
Chr8:6302482 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2199C>T (p.His733=) single nucleotide variant not provided [RCV003667969] Chr8:6499914 [GRCh38]
Chr8:6357435 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2136+18A>G single nucleotide variant not provided [RCV003701435] Chr8:6480894 [GRCh38]
Chr8:6338415 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.233+20C>G single nucleotide variant not provided [RCV003668155] Chr8:6414903 [GRCh38]
Chr8:6272424 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.382C>T (p.Gln128Ter) single nucleotide variant not provided [RCV003549761] Chr8:6436108 [GRCh38]
Chr8:6293629 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2427G>A (p.Lys809=) single nucleotide variant not provided [RCV003665164] Chr8:6621666 [GRCh38]
Chr8:6479187 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1614T>C (p.His538=) single nucleotide variant not provided [RCV003673645] Chr8:6445336 [GRCh38]
Chr8:6302857 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1191G>T (p.Val397=) single nucleotide variant not provided [RCV003817058] Chr8:6444913 [GRCh38]
Chr8:6302434 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2322G>A (p.Lys774=) single nucleotide variant not provided [RCV003855869] Chr8:6621561 [GRCh38]
Chr8:6479082 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2016C>G (p.Gly672=) single nucleotide variant not provided [RCV003667071] Chr8:6480756 [GRCh38]
Chr8:6338277 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.561G>A (p.Arg187=) single nucleotide variant not provided [RCV003665194] Chr8:6439077 [GRCh38]
Chr8:6296598 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1704C>A (p.Ser568=) single nucleotide variant not provided [RCV003672079] Chr8:6445426 [GRCh38]
Chr8:6302947 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2436T>G (p.Ser812=) single nucleotide variant not provided [RCV003668154] Chr8:6621675 [GRCh38]
Chr8:6479196 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.567T>C (p.Asn189=) single nucleotide variant not provided [RCV003724673] Chr8:6439083 [GRCh38]
Chr8:6296604 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2073A>G (p.Pro691=) single nucleotide variant not provided [RCV003851191] Chr8:6480813 [GRCh38]
Chr8:6338334 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1005C>T (p.Thr335=) single nucleotide variant not provided [RCV003855924] Chr8:6444727 [GRCh38]
Chr8:6302248 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.436+18A>G single nucleotide variant not provided [RCV003548836] Chr8:6436180 [GRCh38]
Chr8:6293701 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.828A>G (p.Ser276=) single nucleotide variant not provided [RCV003668270] Chr8:6444550 [GRCh38]
Chr8:6302071 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2211T>C (p.Ala737=) single nucleotide variant not provided [RCV003701571] Chr8:6499926 [GRCh38]
Chr8:6357447 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2112C>T (p.Gly704=) single nucleotide variant not provided [RCV003673134] Chr8:6480852 [GRCh38]
Chr8:6338373 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1386C>G (p.Ser462=) single nucleotide variant not provided [RCV003673074] Chr8:6445108 [GRCh38]
Chr8:6302629 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.23-8_23-5dup duplication not provided [RCV003674012] Chr8:6409268..6409269 [GRCh38]
Chr8:6266789..6266790 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1974-10G>C single nucleotide variant MCPH1-related condition [RCV003981134]|not provided [RCV003813801] Chr8:6480704 [GRCh38]
Chr8:6338225 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.115-2A>G single nucleotide variant not provided [RCV003700489] Chr8:6414763 [GRCh38]
Chr8:6272284 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.2215-17C>G single nucleotide variant not provided [RCV003723918] Chr8:6621437 [GRCh38]
Chr8:6478958 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1314C>T (p.Ser438=) single nucleotide variant not provided [RCV003816726] Chr8:6445036 [GRCh38]
Chr8:6302557 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2307C>T (p.Ser769=) single nucleotide variant not provided [RCV003667297] Chr8:6621546 [GRCh38]
Chr8:6479067 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.177T>C (p.Thr59=) single nucleotide variant not provided [RCV003701607] Chr8:6414827 [GRCh38]
Chr8:6272348 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.552G>A (p.Lys184=) single nucleotide variant not provided [RCV003724830] Chr8:6439068 [GRCh38]
Chr8:6296589 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1167G>A (p.Arg389=) single nucleotide variant not provided [RCV003665857] Chr8:6444889 [GRCh38]
Chr8:6302410 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2137-16G>A single nucleotide variant not provided [RCV003838081] Chr8:6499836 [GRCh38]
Chr8:6357357 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.321+18A>G single nucleotide variant not provided [RCV003833765] Chr8:6431604 [GRCh38]
Chr8:6289125 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.741G>A (p.Gln247=) single nucleotide variant not provided [RCV003664746] Chr8:6444463 [GRCh38]
Chr8:6301984 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1644C>T (p.Ser548=) single nucleotide variant not provided [RCV003816347] Chr8:6445366 [GRCh38]
Chr8:6302887 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.1416C>T (p.Asp472=) single nucleotide variant not provided [RCV003666925] Chr8:6445138 [GRCh38]
Chr8:6302659 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1950A>G (p.Leu650=) single nucleotide variant not provided [RCV003667770] Chr8:6477608 [GRCh38]
Chr8:6335129 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.580+16G>T single nucleotide variant not provided [RCV003850445] Chr8:6439112 [GRCh38]
Chr8:6296633 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1974-15C>T single nucleotide variant not provided [RCV003671216] Chr8:6480699 [GRCh38]
Chr8:6338220 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1332C>T (p.Cys444=) single nucleotide variant not provided [RCV003724384] Chr8:6445054 [GRCh38]
Chr8:6302575 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.954T>G (p.Ala318=) single nucleotide variant not provided [RCV003835106] Chr8:6444676 [GRCh38]
Chr8:6302197 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.630_631del (p.Cys210_Glu211delinsTer) microsatellite not provided [RCV003664542] Chr8:6442112..6442113 [GRCh38]
Chr8:6299633..6299634 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.23-20T>C single nucleotide variant not provided [RCV003833580] Chr8:6409259 [GRCh38]
Chr8:6266780 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.258T>C (p.Ile86=) single nucleotide variant not provided [RCV003667256] Chr8:6431523 [GRCh38]
Chr8:6289044 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2271C>T (p.Ala757=) single nucleotide variant not provided [RCV003815156] Chr8:6621510 [GRCh38]
Chr8:6479031 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2244A>C (p.Ala748=) single nucleotide variant not provided [RCV003725580] Chr8:6621483 [GRCh38]
Chr8:6479004 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.233+16C>G single nucleotide variant not provided [RCV003581052] Chr8:6414899 [GRCh38]
Chr8:6272420 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.369T>C (p.Asn123=) single nucleotide variant not provided [RCV003671814] Chr8:6436095 [GRCh38]
Chr8:6293616 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1341T>C (p.Leu447=) single nucleotide variant not provided [RCV003717394] Chr8:6445063 [GRCh38]
Chr8:6302584 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.783T>C (p.Asp261=) single nucleotide variant not provided [RCV003672668] Chr8:6444505 [GRCh38]
Chr8:6302026 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.627G>T (p.Leu209=) single nucleotide variant not provided [RCV003838886] Chr8:6442113 [GRCh38]
Chr8:6299634 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2094G>A (p.Leu698=) single nucleotide variant not provided [RCV003664888] Chr8:6480834 [GRCh38]
Chr8:6338355 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.849C>T (p.Leu283=) single nucleotide variant not provided [RCV003717052] Chr8:6444571 [GRCh38]
Chr8:6302092 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.240G>A (p.Arg80=) single nucleotide variant not provided [RCV003549126] Chr8:6431505 [GRCh38]
Chr8:6289026 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1175_1176delinsGG (p.Asp392Gly) indel not provided [RCV003668433] Chr8:6444897..6444898 [GRCh38]
Chr8:6302418..6302419 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2055C>T (p.His685=) single nucleotide variant not provided [RCV003664093] Chr8:6480795 [GRCh38]
Chr8:6338316 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.219G>T (p.Val73=) single nucleotide variant not provided [RCV003558198] Chr8:6414869 [GRCh38]
Chr8:6272390 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2046C>T (p.Thr682=) single nucleotide variant not provided [RCV003669088] Chr8:6480786 [GRCh38]
Chr8:6338307 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2292C>T (p.Val764=) single nucleotide variant not provided [RCV003665765] Chr8:6621531 [GRCh38]
Chr8:6479052 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1998T>C (p.Val666=) single nucleotide variant not provided [RCV003666094] Chr8:6480738 [GRCh38]
Chr8:6338259 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.233+14C>G single nucleotide variant not provided [RCV003678706] Chr8:6414897 [GRCh38]
Chr8:6272418 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.22+10T>C single nucleotide variant not provided [RCV003564253] Chr8:6406699 [GRCh38]
Chr8:6264220 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1809C>G (p.Pro603=) single nucleotide variant not provided [RCV003731398] Chr8:6445531 [GRCh38]
Chr8:6303052 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1554A>G (p.Ala518=) single nucleotide variant not provided [RCV003865816] Chr8:6445276 [GRCh38]
Chr8:6302797 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2421A>G (p.Thr807=) single nucleotide variant not provided [RCV003563712] Chr8:6621660 [GRCh38]
Chr8:6479181 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.558A>G (p.Lys186=) single nucleotide variant not provided [RCV003708292] Chr8:6439074 [GRCh38]
Chr8:6296595 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1920T>C (p.Ser640=) single nucleotide variant not provided [RCV003704186] Chr8:6455237 [GRCh38]
Chr8:6312758 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.23-1G>A single nucleotide variant not provided [RCV003709165] Chr8:6409278 [GRCh38]
Chr8:6266799 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.1095A>C (p.Ser365=) single nucleotide variant not provided [RCV003681044] Chr8:6444817 [GRCh38]
Chr8:6302338 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.670+12A>G single nucleotide variant not provided [RCV003857021] Chr8:6442168 [GRCh38]
Chr8:6299689 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2358C>T (p.Val786=) single nucleotide variant not provided [RCV003861455] Chr8:6621597 [GRCh38]
Chr8:6479118 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2137-13G>T single nucleotide variant not provided [RCV003819642] Chr8:6499839 [GRCh38]
Chr8:6357360 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.322-19T>C single nucleotide variant not provided [RCV003568001] Chr8:6436029 [GRCh38]
Chr8:6293550 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2325C>G (p.Leu775=) single nucleotide variant not provided [RCV003678305] Chr8:6621564 [GRCh38]
Chr8:6479085 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.246T>G (p.Ala82=) single nucleotide variant not provided [RCV003846576] Chr8:6431511 [GRCh38]
Chr8:6289032 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1005C>G (p.Thr335=) single nucleotide variant not provided [RCV003736179] Chr8:6444727 [GRCh38]
Chr8:6302248 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.321+12A>T single nucleotide variant not provided [RCV003704150] Chr8:6431598 [GRCh38]
Chr8:6289119 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2214+9G>C single nucleotide variant not provided [RCV003841241] Chr8:6499938 [GRCh38]
Chr8:6357459 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.580+19A>C single nucleotide variant not provided [RCV003844725] Chr8:6439115 [GRCh38]
Chr8:6296636 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2250G>A (p.Pro750=) single nucleotide variant not provided [RCV003732806] Chr8:6621489 [GRCh38]
Chr8:6479010 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.670+12A>C single nucleotide variant not provided [RCV003552938] Chr8:6442168 [GRCh38]
Chr8:6299689 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2184C>T (p.Phe728=) single nucleotide variant not provided [RCV003846195] Chr8:6499899 [GRCh38]
Chr8:6357420 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1992C>A (p.Ile664=) single nucleotide variant not provided [RCV003710582] Chr8:6480732 [GRCh38]
Chr8:6338253 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.671-17C>T single nucleotide variant not provided [RCV003679922] Chr8:6444376 [GRCh38]
Chr8:6301897 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1631C>T (p.Pro544Leu) single nucleotide variant not provided [RCV003859066] Chr8:6445353 [GRCh38]
Chr8:6302874 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.581-11C>A single nucleotide variant not provided [RCV003840881] Chr8:6442056 [GRCh38]
Chr8:6299577 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.826_829del (p.Ser276fs) microsatellite not provided [RCV003710725] Chr8:6444542..6444545 [GRCh38]
Chr8:6302063..6302066 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2343G>A (p.Leu781=) single nucleotide variant not provided [RCV003707355] Chr8:6621582 [GRCh38]
Chr8:6479103 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1974-7T>A single nucleotide variant not provided [RCV003678916] Chr8:6480707 [GRCh38]
Chr8:6338228 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2452+14C>A single nucleotide variant not provided [RCV003680418] Chr8:6621705 [GRCh38]
Chr8:6479226 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.201C>T (p.Gly67=) single nucleotide variant not provided [RCV003730019] Chr8:6414851 [GRCh38]
Chr8:6272372 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1629T>A (p.Thr543=) single nucleotide variant not provided [RCV003552342] Chr8:6445351 [GRCh38]
Chr8:6302872 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2058G>A (p.Val686=) single nucleotide variant not provided [RCV003847237] Chr8:6480798 [GRCh38]
Chr8:6338319 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2453-4C>A single nucleotide variant not provided [RCV003707382] Chr8:6642990 [GRCh38]
Chr8:6500511 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.522C>T (p.Ser174=) single nucleotide variant not provided [RCV003727035] Chr8:6439038 [GRCh38]
Chr8:6296559 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1149G>A (p.Pro383=) single nucleotide variant not provided [RCV003822283] Chr8:6444871 [GRCh38]
Chr8:6302392 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2215-19_2215-18del deletion not provided [RCV003676114] Chr8:6621434..6621435 [GRCh38]
Chr8:6478955..6478956 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2388C>T (p.Val796=) single nucleotide variant not provided [RCV003678221] Chr8:6621627 [GRCh38]
Chr8:6479148 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.22+18G>A single nucleotide variant not provided [RCV003858228] Chr8:6406707 [GRCh38]
Chr8:6264228 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1050G>A (p.Arg350=) single nucleotide variant not provided [RCV003541918] Chr8:6444772 [GRCh38]
Chr8:6302293 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV003842492] Chr8:6406673 [GRCh38]
Chr8:6264194 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2031A>G (p.Pro677=) single nucleotide variant not provided [RCV003678329] Chr8:6480771 [GRCh38]
Chr8:6338292 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.441T>C (p.Asp147=) single nucleotide variant not provided [RCV003564905] Chr8:6438957 [GRCh38]
Chr8:6296478 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.153C>T (p.Ile51=) single nucleotide variant not provided [RCV003731049] Chr8:6414803 [GRCh38]
Chr8:6272324 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.135A>G (p.Lys45=) single nucleotide variant not provided [RCV003822219] Chr8:6414785 [GRCh38]
Chr8:6272306 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.22+19C>T single nucleotide variant not provided [RCV003678416] Chr8:6406708 [GRCh38]
Chr8:6264229 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.72T>C (p.Tyr24=) single nucleotide variant not provided [RCV003819214] Chr8:6409328 [GRCh38]
Chr8:6266849 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1878C>G (p.Gly626=) single nucleotide variant not provided [RCV003551521] Chr8:6455195 [GRCh38]
Chr8:6312716 [GRCh37]
Chr8:8p23.1		 likely benign
GRCh37/hg19 8p23.1(chr8:6238192-6537470)x1 copy number loss not specified [RCV003986746] Chr8:6238192..6537470 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1524G>A (p.Arg508=) single nucleotide variant not provided [RCV003707624] Chr8:6445246 [GRCh38]
Chr8:6302767 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2494C>T (p.Leu832=) single nucleotide variant not provided [RCV003719331] Chr8:6643035 [GRCh38]
Chr8:6500556 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1947A>G (p.Thr649=) single nucleotide variant not provided [RCV003568318] Chr8:6477605 [GRCh38]
Chr8:6335126 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.580+17T>C single nucleotide variant not provided [RCV003819516] Chr8:6439113 [GRCh38]
Chr8:6296634 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2385C>T (p.Ile795=) single nucleotide variant not provided [RCV003869729] Chr8:6621624 [GRCh38]
Chr8:6479145 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.437-2A>G single nucleotide variant not provided [RCV003685532] Chr8:6438951 [GRCh38]
Chr8:6296472 [GRCh37]
Chr8:8p23.1		 likely pathogenic
GRCh37/hg19 8p23.2-23.1(chr8:6174886-6300232)x1 copy number loss not specified [RCV003986733] Chr8:6174886..6300232 [GRCh37]
Chr8:8p23.2-23.1		 uncertain significance
NM_024596.5(MCPH1):c.2215-15C>T single nucleotide variant not provided [RCV003863748] Chr8:6621439 [GRCh38]
Chr8:6478960 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1974-19T>A single nucleotide variant not provided [RCV003865867] Chr8:6480695 [GRCh38]
Chr8:6338216 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.909_921del (p.Arg304fs) deletion not provided [RCV003557367] Chr8:6444626..6444638 [GRCh38]
Chr8:6302147..6302159 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.437-12G>A single nucleotide variant not provided [RCV003557289] Chr8:6438941 [GRCh38]
Chr8:6296462 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.141A>T (p.Val47=) single nucleotide variant not provided [RCV003704121] Chr8:6414791 [GRCh38]
Chr8:6272312 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.233+2T>C single nucleotide variant not provided [RCV003858356] Chr8:6414885 [GRCh38]
Chr8:6272406 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.1662A>G (p.Glu554=) single nucleotide variant not provided [RCV003729930] Chr8:6445384 [GRCh38]
Chr8:6302905 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.125G>A (p.Ser42Asn) single nucleotide variant not provided [RCV003682904] Chr8:6562810 [GRCh38]
Chr8:6420331 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1830T>C (p.Val610=) single nucleotide variant not provided [RCV003721072] Chr8:6455147 [GRCh38]
Chr8:6312668 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.27A>G (p.Val9=) single nucleotide variant not provided [RCV003871361] Chr8:6409283 [GRCh38]
Chr8:6266804 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.114+13T>C single nucleotide variant not provided [RCV003706714] Chr8:6409383 [GRCh38]
Chr8:6266904 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1488G>A (p.Ser496=) single nucleotide variant not provided [RCV003737926] Chr8:6445210 [GRCh38]
Chr8:6302731 [GRCh37]
Chr8:8p23.1		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_024596.5(MCPH1):c.1359A>G (p.Thr453=) single nucleotide variant not provided [RCV003705595] Chr8:6445081 [GRCh38]
Chr8:6302602 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2472G>A (p.Lys824=) single nucleotide variant not provided [RCV003554701] Chr8:6643013 [GRCh38]
Chr8:6500534 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2436T>C (p.Ser812=) single nucleotide variant not provided [RCV003866507] Chr8:6621675 [GRCh38]
Chr8:6479196 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2091G>A (p.Val697=) single nucleotide variant not provided [RCV003867594] Chr8:6480831 [GRCh38]
Chr8:6338352 [GRCh37]
Chr8:8p23.1		 likely benign
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_024596.5(MCPH1):c.279A>T (p.Ala93=) single nucleotide variant not provided [RCV003719743] Chr8:6431544 [GRCh38]
Chr8:6289065 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.18G>A (p.Leu6=) single nucleotide variant not provided [RCV003872006] Chr8:6406685 [GRCh38]
Chr8:6264206 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1194G>C (p.Ala398=) single nucleotide variant not provided [RCV003551186] Chr8:6444916 [GRCh38]
Chr8:6302437 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1170G>A (p.Ser390=) single nucleotide variant not provided [RCV003730773] Chr8:6444892 [GRCh38]
Chr8:6302413 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2112C>G (p.Gly704=) single nucleotide variant not provided [RCV003681941] Chr8:6480852 [GRCh38]
Chr8:6338373 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1101G>C (p.Pro367=) single nucleotide variant not provided [RCV003711297] Chr8:6444823 [GRCh38]
Chr8:6302344 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.233+16C>T single nucleotide variant not provided [RCV003867190] Chr8:6414899 [GRCh38]
Chr8:6272420 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1936-4C>T single nucleotide variant not provided [RCV003720113] Chr8:6477590 [GRCh38]
Chr8:6335111 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.156C>T (p.Phe52=) single nucleotide variant not provided [RCV003859201] Chr8:6414806 [GRCh38]
Chr8:6272327 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1059A>G (p.Ser353=) single nucleotide variant not provided [RCV003684777] Chr8:6444781 [GRCh38]
Chr8:6302302 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.81A>C (p.Thr27=) single nucleotide variant not provided [RCV003722142] Chr8:6409337 [GRCh38]
Chr8:6266858 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1560A>T (p.Pro520=) single nucleotide variant not provided [RCV003848483] Chr8:6445282 [GRCh38]
Chr8:6302803 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.696C>T (p.His232=) single nucleotide variant not provided [RCV003675457] Chr8:6444418 [GRCh38]
Chr8:6301939 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1770T>C (p.Cys590=) single nucleotide variant not provided [RCV003567814] Chr8:6445492 [GRCh38]
Chr8:6303013 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.436+10G>T single nucleotide variant not provided [RCV003720062] Chr8:6436172 [GRCh38]
Chr8:6293693 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.906G>A (p.Leu302=) single nucleotide variant not provided [RCV003551501] Chr8:6444628 [GRCh38]
Chr8:6302149 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1453C>A (p.Arg485=) single nucleotide variant not provided [RCV003859590] Chr8:6445175 [GRCh38]
Chr8:6302696 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.671-16C>T single nucleotide variant not provided [RCV003822391] Chr8:6444377 [GRCh38]
Chr8:6301898 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2463C>T (p.Thr821=) single nucleotide variant not provided [RCV003731050] Chr8:6643004 [GRCh38]
Chr8:6500525 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.678C>T (p.Tyr226=) single nucleotide variant MCPH1-related condition [RCV003893374]|not provided [RCV003738021] Chr8:6444400 [GRCh38]
Chr8:6301921 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.322-10T>C single nucleotide variant not provided [RCV003721559] Chr8:6436038 [GRCh38]
Chr8:6293559 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.759A>G (p.Gly253=) single nucleotide variant not provided [RCV003722786] Chr8:6444481 [GRCh38]
Chr8:6302002 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2214+18T>A single nucleotide variant not provided [RCV003719301] Chr8:6499947 [GRCh38]
Chr8:6357468 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.843_846del (p.His282fs) microsatellite not provided [RCV003728373] Chr8:6444561..6444564 [GRCh38]
Chr8:6302082..6302085 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2353C>A (p.Arg785=) single nucleotide variant not provided [RCV003566555] Chr8:6621592 [GRCh38]
Chr8:6479113 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.436+15A>G single nucleotide variant not provided [RCV003863599] Chr8:6436177 [GRCh38]
Chr8:6293698 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1935+7G>A single nucleotide variant not provided [RCV003728437] Chr8:6455259 [GRCh38]
Chr8:6312780 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1986C>T (p.Val662=) single nucleotide variant not provided [RCV003845256] Chr8:6480726 [GRCh38]
Chr8:6338247 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.18G>C (p.Leu6=) single nucleotide variant not provided [RCV003845276] Chr8:6406685 [GRCh38]
Chr8:6264206 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2214+12del deletion not provided [RCV003853322] Chr8:6499941 [GRCh38]
Chr8:6357462 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2484T>G (p.Pro828=) single nucleotide variant not provided [RCV003682743] Chr8:6643025 [GRCh38]
Chr8:6500546 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.581-17C>G single nucleotide variant not provided [RCV003723141] Chr8:6442050 [GRCh38]
Chr8:6299571 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1653A>G (p.Glu551=) single nucleotide variant not provided [RCV003721548] Chr8:6445375 [GRCh38]
Chr8:6302896 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.999T>G (p.Ser333=) single nucleotide variant not provided [RCV003563923] Chr8:6444721 [GRCh38]
Chr8:6302242 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2034C>T (p.Asp678=) single nucleotide variant not provided [RCV003847925] Chr8:6480774 [GRCh38]
Chr8:6338295 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.597G>A (p.Gln199=) single nucleotide variant not provided [RCV003722234] Chr8:6442083 [GRCh38]
Chr8:6299604 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2181G>A (p.Pro727=) single nucleotide variant not provided [RCV003867868] Chr8:6499896 [GRCh38]
Chr8:6357417 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.634_638del (p.Ala212fs) deletion not provided [RCV003710886] Chr8:6442120..6442124 [GRCh38]
Chr8:6299641..6299645 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2223A>G (p.Arg741=) single nucleotide variant not provided [RCV003867894] Chr8:6621462 [GRCh38]
Chr8:6478983 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2247G>A (p.Gly749=) single nucleotide variant not provided [RCV003823701] Chr8:6621486 [GRCh38]
Chr8:6479007 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1557C>T (p.Cys519=) single nucleotide variant not provided [RCV003706017] Chr8:6445279 [GRCh38]
Chr8:6302800 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.22+13C>T single nucleotide variant not provided [RCV003705844] Chr8:6406702 [GRCh38]
Chr8:6264223 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2497T>C (p.Leu833=) single nucleotide variant not provided [RCV003865414] Chr8:6643038 [GRCh38]
Chr8:6500559 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1434A>C (p.Ala478=) single nucleotide variant not provided [RCV003567029] Chr8:6445156 [GRCh38]
Chr8:6302677 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2214+17T>C single nucleotide variant not provided [RCV003568382] Chr8:6499946 [GRCh38]
Chr8:6357467 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.183C>T (p.Asp61=) single nucleotide variant not provided [RCV003555231] Chr8:6414833 [GRCh38]
Chr8:6272354 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1527T>C (p.Cys509=) single nucleotide variant not provided [RCV003555238] Chr8:6445249 [GRCh38]
Chr8:6302770 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.673G>T (p.Glu225Ter) single nucleotide variant not provided [RCV003711677] Chr8:6444395 [GRCh38]
Chr8:6301916 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2215-19A>C single nucleotide variant not provided [RCV003865645] Chr8:6621435 [GRCh38]
Chr8:6478956 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.128_129del (p.Thr42_Phe43insTer) deletion not provided [RCV003862033] Chr8:6414776..6414777 [GRCh38]
Chr8:6272297..6272298 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.457T>C (p.Leu153=) single nucleotide variant not provided [RCV003847250] Chr8:6438973 [GRCh38]
Chr8:6296494 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2409G>A (p.Lys803=) single nucleotide variant not provided [RCV003733391] Chr8:6621648 [GRCh38]
Chr8:6479169 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.581-8G>C single nucleotide variant not provided [RCV003848686] Chr8:6442059 [GRCh38]
Chr8:6299580 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2367C>G (p.Val789=) single nucleotide variant not provided [RCV003711390] Chr8:6621606 [GRCh38]
Chr8:6479127 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1467T>C (p.Asn489=) single nucleotide variant not provided [RCV003865123] Chr8:6445189 [GRCh38]
Chr8:6302710 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.54C>G (p.Ser18=) single nucleotide variant not provided [RCV003542645] Chr8:6409310 [GRCh38]
Chr8:6266831 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1197A>G (p.Gly399=) single nucleotide variant not provided [RCV003551525] Chr8:6444919 [GRCh38]
Chr8:6302440 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1519C>T (p.Leu507=) single nucleotide variant not provided [RCV003567493] Chr8:6445241 [GRCh38]
Chr8:6302762 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2136+20T>G single nucleotide variant not provided [RCV003681245] Chr8:6480896 [GRCh38]
Chr8:6338417 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.437-4T>C single nucleotide variant not provided [RCV003819275] Chr8:6438949 [GRCh38]
Chr8:6296470 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1194G>A (p.Ala398=) single nucleotide variant not provided [RCV003853520] Chr8:6444916 [GRCh38]
Chr8:6302437 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1134G>A (p.Arg378=) single nucleotide variant not provided [RCV003706256] Chr8:6444856 [GRCh38]
Chr8:6302377 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1825+19C>G single nucleotide variant not provided [RCV003704920] Chr8:6445566 [GRCh38]
Chr8:6303087 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1509T>G (p.Pro503=) single nucleotide variant not provided [RCV003860662] Chr8:6445231 [GRCh38]
Chr8:6302752 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.436+20A>G single nucleotide variant not provided [RCV003821878] Chr8:6436182 [GRCh38]
Chr8:6293703 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.321+20G>T single nucleotide variant not provided [RCV003542615] Chr8:6431606 [GRCh38]
Chr8:6289127 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.857C>G (p.Ser286Ter) single nucleotide variant not provided [RCV003858172] Chr8:6444579 [GRCh38]
Chr8:6302100 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.1836T>C (p.Asn612=) single nucleotide variant not provided [RCV003861396] Chr8:6455153 [GRCh38]
Chr8:6312674 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2214+7C>A single nucleotide variant not provided [RCV003681450] Chr8:6499936 [GRCh38]
Chr8:6357457 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1233A>C (p.Ser411=) single nucleotide variant not provided [RCV003564835] Chr8:6444955 [GRCh38]
Chr8:6302476 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.234-4A>G single nucleotide variant not provided [RCV003853674] Chr8:6431495 [GRCh38]
Chr8:6289016 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.581-13G>T single nucleotide variant not provided [RCV003822707] Chr8:6442054 [GRCh38]
Chr8:6299575 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.322-13dup duplication not provided [RCV003844665] Chr8:6436033..6436034 [GRCh38]
Chr8:6293554..6293555 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.321+8C>T single nucleotide variant not provided [RCV003553292] Chr8:6431594 [GRCh38]
Chr8:6289115 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.921A>G (p.Ala307=) single nucleotide variant not provided [RCV003818411] Chr8:6444643 [GRCh38]
Chr8:6302164 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.436+13A>G single nucleotide variant not provided [RCV003676031] Chr8:6436175 [GRCh38]
Chr8:6293696 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2130T>C (p.Tyr710=) single nucleotide variant not provided [RCV003821106] Chr8:6480870 [GRCh38]
Chr8:6338391 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.771C>T (p.Asp257=) single nucleotide variant not provided [RCV003553278] Chr8:6444493 [GRCh38]
Chr8:6302014 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.23-11C>G single nucleotide variant not provided [RCV003824209] Chr8:6409268 [GRCh38]
Chr8:6266789 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1974-4A>G single nucleotide variant not provided [RCV003565028] Chr8:6480710 [GRCh38]
Chr8:6338231 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.924T>C (p.Gly308=) single nucleotide variant not provided [RCV003824206] Chr8:6444646 [GRCh38]
Chr8:6302167 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.479T>A (p.Leu160Ter) single nucleotide variant not provided [RCV003706833] Chr8:6438995 [GRCh38]
Chr8:6296516 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.1764T>C (p.Val588=) single nucleotide variant not provided [RCV003551976] Chr8:6445486 [GRCh38]
Chr8:6303007 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2215-14T>C single nucleotide variant not provided [RCV003863337] Chr8:6621440 [GRCh38]
Chr8:6478961 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2283G>A (p.Ala761=) single nucleotide variant not provided [RCV003709730] Chr8:6621522 [GRCh38]
Chr8:6479043 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.671-7T>G single nucleotide variant not provided [RCV003729268] Chr8:6444386 [GRCh38]
Chr8:6301907 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1826-12C>G single nucleotide variant not provided [RCV003860356] Chr8:6455131 [GRCh38]
Chr8:6312652 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.-8C>T single nucleotide variant MCPH1-related condition [RCV003944767] Chr8:6406660 [GRCh38]
Chr8:6264181 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.-5C>G single nucleotide variant MCPH1-related condition [RCV003979432] Chr8:6406663 [GRCh38]
Chr8:6264184 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2214C>G (p.Pro738=) single nucleotide variant MCPH1-related condition [RCV003981687] Chr8:6499929 [GRCh38]
Chr8:6357450 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2452+176C>G single nucleotide variant not provided [RCV003886988] Chr8:6621867 [GRCh38]
Chr8:6479388 [GRCh37]
Chr8:8p23.1		 likely benign
NM_001118887.2(ANGPT2):c.300T>C (p.Tyr100=) single nucleotide variant ANGPT2-related condition [RCV003899742] Chr8:6532476 [GRCh38]
Chr8:6389997 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.670+5A>C single nucleotide variant not specified [RCV003988450] Chr8:6442161 [GRCh38]
Chr8:6299682 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.139C>T (p.Leu47=) single nucleotide variant ANGPT2-related condition [RCV003934499] Chr8:6562796 [GRCh38]
Chr8:6420317 [GRCh37]
Chr8:8p23.1		 likely benign
GRCh37/hg19 8p23.2-23.1(chr8:5908975-6631197)x1 copy number loss not specified [RCV003986731] Chr8:5908975..6631197 [GRCh37]
Chr8:8p23.2-23.1		 pathogenic
NM_024596.5(MCPH1):c.2215-15_2215-14del microsatellite not provided [RCV003684519] Chr8:6621436..6621437 [GRCh38]
Chr8:6478957..6478958 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg) single nucleotide variant not provided [RCV002516818]|not specified [RCV000180370] Chr8:6445503 [GRCh38]
Chr8:6303024 [GRCh37]
Chr8:8p23.1		 benign|uncertain significance
GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3 copy number gain See cases [RCV000137206] Chr8:782690..8222398 [GRCh38]
Chr8:732690..8079920 [GRCh37]
Chr8:722690..8117330 [NCBI36]
Chr8:8p23.3-23.1		 benign
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
NM_024596.5(MCPH1):c.1930A>G (p.Lys644Glu) single nucleotide variant Inborn genetic diseases [RCV003372638]|not provided [RCV000724059] Chr8:6455247 [GRCh38]
Chr8:6312768 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.4(MCPH1):c.-59G>C single nucleotide variant Primary Microcephaly, Recessive [RCV000365880]|not provided [RCV001618664] Chr8:6406609 [GRCh38]
Chr8:6264130 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.1974-297C>G single nucleotide variant not provided [RCV001534948] Chr8:6480417 [GRCh38]
Chr8:6337938 [GRCh37]
Chr8:8p23.1		 benign
GRCh37/hg19 8p23.3-23.1(chr8:158048-6828766)x1 copy number loss not provided [RCV000849211] Chr8:158048..6828766 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
NM_024596.5(MCPH1):c.*122T>A single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001163353] Chr8:6643171 [GRCh38]
Chr8:6500692 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.*129C>T single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001163354] Chr8:6643178 [GRCh38]
Chr8:6500699 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_001118887.2(ANGPT2):c.785T>C (p.Met262Thr) single nucleotide variant Inborn genetic diseases [RCV003241507] Chr8:6521192 [GRCh38]
Chr8:6378713 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1986C>G (p.Val662=) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001165106]|not provided [RCV003769797] Chr8:6480726 [GRCh38]
Chr8:6338247 [GRCh37]
Chr8:8p23.1		 likely benign|uncertain significance
NM_001118887.2(ANGPT2):c.*2983A>G single nucleotide variant not provided [RCV001655055] Chr8:6500118 [GRCh38]
Chr8:6357639 [GRCh37]
Chr8:8p23.1		 benign
NM_024596.5(MCPH1):c.2255G>A (p.Arg752His) single nucleotide variant not provided [RCV001663660] Chr8:6621494 [GRCh38]
Chr8:6479015 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.114+1G>T single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV001782428] Chr8:6409371 [GRCh38]
Chr8:6266892 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.484T>C (p.Tyr162His) single nucleotide variant not provided [RCV002023275] Chr8:6439000 [GRCh38]
Chr8:6296521 [GRCh37]
Chr8:8p23.1		 uncertain significance
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_001363980.2(MCPH1):c.1935+25462_1935+25465del deletion Autosomal recessive primary microcephaly [RCV003236285] Chr8:6480712..6480715 [GRCh38]
Chr8:6338233..6338236 [GRCh37]
Chr8:8p23.1		 pathogenic
NM_024596.5(MCPH1):c.2049G>A (p.Thr683=) single nucleotide variant not provided [RCV002681767] Chr8:6480789 [GRCh38]
Chr8:6338310 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.625_626del (p.Leu209fs) microsatellite Autosomal recessive primary microcephaly [RCV003155846] Chr8:6442107..6442108 [GRCh38]
Chr8:6299628..6299629 [GRCh37]
Chr8:8p23.1		 likely pathogenic
NM_024596.5(MCPH1):c.355A>G (p.Lys119Glu) single nucleotide variant Microcephaly 1, primary, autosomal recessive [RCV003132614] Chr8:6436081 [GRCh38]
Chr8:6293602 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.1100C>T (p.Pro367Leu) single nucleotide variant Inborn genetic diseases [RCV003178389] Chr8:6444822 [GRCh38]
Chr8:6302343 [GRCh37]
Chr8:8p23.1		 uncertain significance
NM_024596.5(MCPH1):c.876G>T (p.Leu292=) single nucleotide variant not provided [RCV003882334] Chr8:6444598 [GRCh38]
Chr8:6302119 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.987G>A (p.Lys329=) single nucleotide variant not provided [RCV003550054] Chr8:6444709 [GRCh38]
Chr8:6302230 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.1825+11C>T single nucleotide variant not provided [RCV003550287] Chr8:6445558 [GRCh38]
Chr8:6303079 [GRCh37]
Chr8:8p23.1		 likely benign
NM_024596.5(MCPH1):c.2453-5080C>G single nucleotide variant MCPH1-related condition [RCV003939278]|not provided [RCV003885320] Chr8:6637914 [GRCh38]
Chr8:6495435 [GRCh37]
Chr8:8p23.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1578
Count of miRNA genes:805
Interacting mature miRNAs:915
Transcripts:ENST00000344683, ENST00000519221, ENST00000519480, ENST00000521129, ENST00000521175, ENST00000522020, ENST00000522905
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
G19225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,328,436 - 6,328,566UniSTSGRCh37
Build 3686,315,844 - 6,315,974RGDNCBI36
Celera86,305,925 - 6,306,055RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,110,457 - 6,110,587UniSTS
WIAF-2168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,473,271 - 6,473,394UniSTSGRCh37
Build 3686,460,679 - 6,460,802RGDNCBI36
Celera86,450,770 - 6,450,893RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,254,177 - 6,254,300UniSTS
GeneMap99-GB4 RH Map833.47UniSTS
RH93262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,359,906 - 6,360,088UniSTSGRCh37
Build 3686,347,314 - 6,347,496RGDNCBI36
Celera86,337,384 - 6,337,566RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,141,896 - 6,142,078UniSTS
GeneMap99-GB4 RH Map830.96UniSTS
RH75428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,484,070 - 6,484,270UniSTSGRCh37
Build 3686,471,478 - 6,471,678RGDNCBI36
Celera86,461,578 - 6,461,778RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,264,979 - 6,265,179UniSTS
SHGC-77726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,478,893 - 6,479,180UniSTSGRCh37
Build 3686,466,301 - 6,466,588RGDNCBI36
Celera86,456,409 - 6,456,696RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,259,809 - 6,260,096UniSTS
TNG Radiation Hybrid Map84091.0UniSTS
SHGC-84494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,372,771 - 6,373,055UniSTSGRCh37
Build 3686,360,179 - 6,360,463RGDNCBI36
Celera86,350,259 - 6,350,543RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,154,739 - 6,155,023UniSTS
RH120360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,352,946 - 6,353,234UniSTSGRCh37
Build 3686,340,354 - 6,340,642RGDNCBI36
Celera86,330,424 - 6,330,712RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,134,947 - 6,135,235UniSTS
TNG Radiation Hybrid Map84011.0UniSTS
G59875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,357,652 - 6,357,821UniSTSGRCh37
Build 3686,345,060 - 6,345,229RGDNCBI36
Celera86,335,130 - 6,335,299RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,139,642 - 6,139,811UniSTS
TNG Radiation Hybrid Map84020.0UniSTS
RH121218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,355,762 - 6,355,979UniSTSGRCh37
Build 3686,343,170 - 6,343,387RGDNCBI36
Celera86,333,240 - 6,333,457RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,137,764 - 6,137,981UniSTS
TNG Radiation Hybrid Map84020.0UniSTS
SHGC-142612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,307,377 - 6,307,667UniSTSGRCh37
Build 3686,294,785 - 6,295,075RGDNCBI36
Celera86,284,866 - 6,285,152RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,089,397 - 6,089,683UniSTS
TNG Radiation Hybrid Map83972.0UniSTS
SHGC-148851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,388,222 - 6,388,340UniSTSGRCh37
Build 3686,375,630 - 6,375,748RGDNCBI36
Celera86,365,713 - 6,365,831RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,170,204 - 6,170,322UniSTS
TNG Radiation Hybrid Map84003.0UniSTS
RH69270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,502,890 - 6,503,021UniSTSGRCh37
Build 3686,490,298 - 6,490,429RGDNCBI36
Celera86,480,393 - 6,480,524RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,283,802 - 6,283,933UniSTS
GeneMap99-GB4 RH Map833.47UniSTS
D8S1935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,481,758 - 6,482,079UniSTSGRCh37
Build 3686,469,166 - 6,469,487RGDNCBI36
Celera86,459,265 - 6,459,586RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,262,664 - 6,262,985UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH48380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,357,309 - 6,357,458UniSTSGRCh37
Build 3686,344,717 - 6,344,866RGDNCBI36
Celera86,334,787 - 6,334,936RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,139,299 - 6,139,448UniSTS
GeneMap99-GB4 RH Map830.96UniSTS
NCBI RH Map892.4UniSTS
STS-AA011655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,391,504 - 6,391,716UniSTSGRCh37
Build 3686,378,912 - 6,379,124RGDNCBI36
Celera86,368,997 - 6,369,209RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,173,485 - 6,173,697UniSTS
GeneMap99-GB4 RH Map830.86UniSTS
D8S1413E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,473,247 - 6,473,361UniSTSGRCh37
Build 3686,460,655 - 6,460,769RGDNCBI36
Celera86,450,746 - 6,450,860RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,254,153 - 6,254,267UniSTS
GeneMap99-GB4 RH Map833.47UniSTS
A004X20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,302,850 - 6,303,049UniSTSGRCh37
Build 3686,290,258 - 6,290,457RGDNCBI36
Celera86,280,349 - 6,280,548RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,084,884 - 6,085,083UniSTS
GeneMap99-GB4 RH Map830.96UniSTS
Whitehead-RH Map832.7UniSTS
NCBI RH Map892.4UniSTS
SHGC-36472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,484,019 - 6,484,108UniSTSGRCh37
Build 3686,471,427 - 6,471,516RGDNCBI36
Celera86,461,527 - 6,461,616RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,264,928 - 6,265,017UniSTS
GeneMap99-G3 RH Map8192.0UniSTS
D8S2077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,481,904 - 6,482,033UniSTSGRCh37
Build 3686,469,312 - 6,469,441RGDNCBI36
Celera86,459,411 - 6,459,540RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,262,810 - 6,262,939UniSTS
RH47768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3786,357,642 - 6,357,829UniSTSGRCh37
Build 3686,345,050 - 6,345,237RGDNCBI36
Celera86,335,120 - 6,335,307RGD
Cytogenetic Map8p23.1UniSTS
HuRef86,139,632 - 6,139,819UniSTS
GeneMap99-GB4 RH Map830.62UniSTS
NCBI RH Map8107.0UniSTS
D10S16   No map positions available.
G66160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371746,633,333 - 46,633,945UniSTSGRCh37
GRCh3786,474,779 - 6,476,078UniSTSGRCh37
Celera86,452,279 - 6,453,594UniSTS
Celera1743,087,475 - 43,088,088UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17q21.3UniSTS
HuRef1742,002,140 - 42,002,752UniSTS
HuRef86,255,685 - 6,256,994UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 73 7 50 11 634 10 113 35 115 102 167 148 6 1 2 2 2
Low 2366 2857 1674 611 1225 453 4244 2127 3606 316 1292 1464 169 1204 2786 4
Below cutoff 127 2 2 92 2 35 13 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF287957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI379664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI480294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI652127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW137476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX087870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY307836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY506331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK004076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX369769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA552142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB051427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB218495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC321458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY014621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN573214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU550240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU674825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000344683   ⟹   ENSP00000342924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,627 - 6,648,508 (+)Ensembl
RefSeq Acc Id: ENST00000519221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,459,242 - 6,643,151 (+)Ensembl
RefSeq Acc Id: ENST00000519480   ⟹   ENSP00000430962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,592 - 6,447,419 (+)Ensembl
RefSeq Acc Id: ENST00000521129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,477,257 - 6,621,691 (+)Ensembl
RefSeq Acc Id: ENST00000521175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,458,800 - 6,643,370 (+)Ensembl
RefSeq Acc Id: ENST00000522020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,455,202 - 6,494,531 (+)Ensembl
RefSeq Acc Id: ENST00000522905   ⟹   ENSP00000430768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,643 - 6,445,890 (+)Ensembl
RefSeq Acc Id: ENST00000684782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,613 - 6,433,655 (+)Ensembl
RefSeq Acc Id: ENST00000685179   ⟹   ENSP00000510001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,612 - 6,447,164 (+)Ensembl
RefSeq Acc Id: ENST00000686750   ⟹   ENSP00000509053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,625 - 6,446,540 (+)Ensembl
RefSeq Acc Id: ENST00000686882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,612,388 - 6,621,482 (+)Ensembl
RefSeq Acc Id: ENST00000687324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,458,530 - 6,643,596 (+)Ensembl
RefSeq Acc Id: ENST00000687413   ⟹   ENSP00000510583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,477,266 - 6,621,691 (+)Ensembl
RefSeq Acc Id: ENST00000687577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,439,926 - 6,445,667 (+)Ensembl
RefSeq Acc Id: ENST00000687720   ⟹   ENSP00000510728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,659 - 6,643,553 (+)Ensembl
RefSeq Acc Id: ENST00000687874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,653 - 6,458,399 (+)Ensembl
RefSeq Acc Id: ENST00000688099   ⟹   ENSP00000509622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,627 - 6,446,521 (+)Ensembl
RefSeq Acc Id: ENST00000688101   ⟹   ENSP00000509998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,442,067 - 6,644,239 (+)Ensembl
RefSeq Acc Id: ENST00000688388   ⟹   ENSP00000510092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,622 - 6,643,096 (+)Ensembl
RefSeq Acc Id: ENST00000688452   ⟹   ENSP00000510556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,619 - 6,446,012 (+)Ensembl
RefSeq Acc Id: ENST00000688658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,444,883 - 6,458,453 (+)Ensembl
RefSeq Acc Id: ENST00000688912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,657 - 6,500,051 (+)Ensembl
RefSeq Acc Id: ENST00000689148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,458,508 - 6,643,493 (+)Ensembl
RefSeq Acc Id: ENST00000689348   ⟹   ENSP00000509554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,627 - 6,643,162 (+)Ensembl
RefSeq Acc Id: ENST00000689633   ⟹   ENSP00000509054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,647 - 6,643,593 (+)Ensembl
RefSeq Acc Id: ENST00000689736   ⟹   ENSP00000509722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,627 - 6,621,691 (+)Ensembl
RefSeq Acc Id: ENST00000690159   ⟹   ENSP00000510482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,627 - 6,626,447 (+)Ensembl
RefSeq Acc Id: ENST00000690518   ⟹   ENSP00000509135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,627 - 6,446,169 (+)Ensembl
RefSeq Acc Id: ENST00000690682   ⟹   ENSP00000509896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,611 - 6,446,542 (+)Ensembl
RefSeq Acc Id: ENST00000690708   ⟹   ENSP00000510400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,627 - 6,643,588 (+)Ensembl
RefSeq Acc Id: ENST00000690826   ⟹   ENSP00000510536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,596 - 6,639,397 (+)Ensembl
RefSeq Acc Id: ENST00000691435   ⟹   ENSP00000510652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,647 - 6,545,713 (+)Ensembl
RefSeq Acc Id: ENST00000691655   ⟹   ENSP00000509652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,627 - 6,500,509 (+)Ensembl
RefSeq Acc Id: ENST00000691738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,414,012 - 6,446,106 (+)Ensembl
RefSeq Acc Id: ENST00000692534   ⟹   ENSP00000510065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,442,067 - 6,477,631 (+)Ensembl
RefSeq Acc Id: ENST00000692836   ⟹   ENSP00000509971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,654 - 6,624,624 (+)Ensembl
RefSeq Acc Id: ENST00000692938   ⟹   ENSP00000509072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,609 - 6,626,598 (+)Ensembl
RefSeq Acc Id: ENST00000693231   ⟹   ENSP00000510764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,406,613 - 6,643,398 (+)Ensembl
RefSeq Acc Id: ENST00000693528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl86,445,490 - 6,482,842 (+)Ensembl
RefSeq Acc Id: NM_001172574   ⟹   NP_001166045
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,447,402 (+)NCBI
GRCh3786,264,113 - 6,501,140 (+)NCBI
HuRef86,046,225 - 6,282,052 (+)ENTREZGENE
CHM1_186,352,911 - 6,393,693 (+)NCBI
T2T-CHM13v2.086,161,207 - 6,201,895 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172575   ⟹   NP_001166046
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,447,402 (+)NCBI
GRCh3786,264,113 - 6,501,140 (+)ENTREZGENE
HuRef86,046,225 - 6,282,052 (+)ENTREZGENE
CHM1_186,352,911 - 6,393,693 (+)NCBI
T2T-CHM13v2.086,161,207 - 6,201,895 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322042   ⟹   NP_001308971
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,648,508 (+)NCBI
CHM1_186,352,911 - 6,595,171 (+)NCBI
T2T-CHM13v2.086,161,207 - 6,402,976 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322043   ⟹   NP_001308972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,447,402 (+)NCBI
CHM1_186,352,911 - 6,393,693 (+)NCBI
T2T-CHM13v2.086,161,207 - 6,201,895 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322045   ⟹   NP_001308974
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,407,153 - 6,447,402 (+)NCBI
CHM1_186,353,454 - 6,393,693 (+)NCBI
T2T-CHM13v2.086,161,690 - 6,201,895 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363979   ⟹   NP_001350908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,639,397 (+)NCBI
T2T-CHM13v2.086,161,207 - 6,393,859 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363980   ⟹   NP_001350909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,648,508 (+)NCBI
T2T-CHM13v2.086,161,207 - 6,402,976 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001410916   ⟹   NP_001397845
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,545,728 (+)NCBI
T2T-CHM13v2.086,161,207 - 6,300,140 (+)NCBI
RefSeq Acc Id: NM_001410917   ⟹   NP_001397846
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,626,598 (+)NCBI
T2T-CHM13v2.086,161,207 - 6,381,065 (+)NCBI
RefSeq Acc Id: NM_024596   ⟹   NP_078872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,648,508 (+)NCBI
GRCh3786,264,113 - 6,501,140 (+)NCBI
Build 3686,251,529 - 6,493,434 (+)NCBI Archive
HuRef86,046,225 - 6,282,052 (+)ENTREZGENE
CHM1_186,352,911 - 6,595,171 (+)NCBI
T2T-CHM13v2.086,161,207 - 6,402,976 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136159
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,447,402 (+)NCBI
CHM1_186,352,911 - 6,393,693 (+)NCBI
T2T-CHM13v2.086,161,207 - 6,201,895 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534756   ⟹   XP_011533058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,555,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534757   ⟹   XP_011533059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,562,399 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534758   ⟹   XP_011533060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,513,166 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013829   ⟹   XP_016869318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,626,598 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013832   ⟹   XP_016869321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,626,598 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013833   ⟹   XP_016869322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,648,508 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047422233   ⟹   XP_047278189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,642,802 (+)NCBI
RefSeq Acc Id: XM_047422234   ⟹   XP_047278190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,648,508 (+)NCBI
RefSeq Acc Id: XM_054361224   ⟹   XP_054217199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.086,161,207 - 6,381,624 (+)NCBI
RefSeq Acc Id: XM_054361225   ⟹   XP_054217200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.086,161,207 - 6,397,270 (+)NCBI
RefSeq Acc Id: XM_054361226   ⟹   XP_054217201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.086,161,207 - 6,381,624 (+)NCBI
RefSeq Acc Id: XM_054361227   ⟹   XP_054217202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.086,161,207 - 6,316,828 (+)NCBI
RefSeq Acc Id: XM_054361228   ⟹   XP_054217203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.086,161,207 - 6,402,976 (+)NCBI
RefSeq Acc Id: XM_054361229   ⟹   XP_054217204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.086,161,207 - 6,316,828 (+)NCBI
RefSeq Acc Id: XM_054361230   ⟹   XP_054217205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.086,161,207 - 6,402,976 (+)NCBI
RefSeq Acc Id: XM_054361231   ⟹   XP_054217206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.086,161,207 - 6,267,992 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001166045 (Get FASTA)   NCBI Sequence Viewer  
  NP_001166046 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308971 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308972 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308974 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350908 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350909 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397845 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397846 (Get FASTA)   NCBI Sequence Viewer  
  NP_078872 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533058 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533059 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533060 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869318 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869321 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869322 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278189 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278190 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217199 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217200 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217201 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217202 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217203 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217204 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217205 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217206 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH30702 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92669 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92670 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92671 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92672 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92673 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92674 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92675 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92676 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92677 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92678 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92679 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92680 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92681 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92682 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92683 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92684 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92685 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92686 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92687 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92688 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92713 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92714 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92715 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92716 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92717 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92718 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92719 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92720 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92721 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92722 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92723 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92724 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92725 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92726 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92727 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92728 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92729 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92730 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92731 (Get FASTA)   NCBI Sequence Viewer  
  AAQ92732 (Get FASTA)   NCBI Sequence Viewer  
  AAS86449 (Get FASTA)   NCBI Sequence Viewer  
  AAS86450 (Get FASTA)   NCBI Sequence Viewer  
  AAS86451 (Get FASTA)   NCBI Sequence Viewer  
  AAS86452 (Get FASTA)   NCBI Sequence Viewer  
  AAS86453 (Get FASTA)   NCBI Sequence Viewer  
  AAS86454 (Get FASTA)   NCBI Sequence Viewer  
  AAS86455 (Get FASTA)   NCBI Sequence Viewer  
  AAS86456 (Get FASTA)   NCBI Sequence Viewer  
  AAS86457 (Get FASTA)   NCBI Sequence Viewer  
  AAS86458 (Get FASTA)   NCBI Sequence Viewer  
  AAS86459 (Get FASTA)   NCBI Sequence Viewer  
  AAS86460 (Get FASTA)   NCBI Sequence Viewer  
  AAS86461 (Get FASTA)   NCBI Sequence Viewer  
  AAS86462 (Get FASTA)   NCBI Sequence Viewer  
  AAS86463 (Get FASTA)   NCBI Sequence Viewer  
  AAS86464 (Get FASTA)   NCBI Sequence Viewer  
  AAS86465 (Get FASTA)   NCBI Sequence Viewer  
  AAS86466 (Get FASTA)   NCBI Sequence Viewer  
  AAS86467 (Get FASTA)   NCBI Sequence Viewer  
  AAS86468 (Get FASTA)   NCBI Sequence Viewer  
  AAS86469 (Get FASTA)   NCBI Sequence Viewer  
  AAS86470 (Get FASTA)   NCBI Sequence Viewer  
  AAS86471 (Get FASTA)   NCBI Sequence Viewer  
  AAS86472 (Get FASTA)   NCBI Sequence Viewer  
  AAS86473 (Get FASTA)   NCBI Sequence Viewer  
  AAS86474 (Get FASTA)   NCBI Sequence Viewer  
  AAS86475 (Get FASTA)   NCBI Sequence Viewer  
  AAS86476 (Get FASTA)   NCBI Sequence Viewer  
  AAS86477 (Get FASTA)   NCBI Sequence Viewer  
  AAS86478 (Get FASTA)   NCBI Sequence Viewer  
  AAS86479 (Get FASTA)   NCBI Sequence Viewer  
  AAS86480 (Get FASTA)   NCBI Sequence Viewer  
  AAS86481 (Get FASTA)   NCBI Sequence Viewer  
  AAS86482 (Get FASTA)   NCBI Sequence Viewer  
  AAS86483 (Get FASTA)   NCBI Sequence Viewer  
  AAS86484 (Get FASTA)   NCBI Sequence Viewer  
  AAS86485 (Get FASTA)   NCBI Sequence Viewer  
  AAS86486 (Get FASTA)   NCBI Sequence Viewer  
  AAS86487 (Get FASTA)   NCBI Sequence Viewer  
  AAS86488 (Get FASTA)   NCBI Sequence Viewer  
  AAS86489 (Get FASTA)   NCBI Sequence Viewer  
  AAS86515 (Get FASTA)   NCBI Sequence Viewer  
  AAS86516 (Get FASTA)   NCBI Sequence Viewer  
  AAS86517 (Get FASTA)   NCBI Sequence Viewer  
  AAS86518 (Get FASTA)   NCBI Sequence Viewer  
  AAS86519 (Get FASTA)   NCBI Sequence Viewer  
  AAS86520 (Get FASTA)   NCBI Sequence Viewer  
  AAS86521 (Get FASTA)   NCBI Sequence Viewer  
  AAS86522 (Get FASTA)   NCBI Sequence Viewer  
  AAS86523 (Get FASTA)   NCBI Sequence Viewer  
  AAS86524 (Get FASTA)   NCBI Sequence Viewer  
  AAS86525 (Get FASTA)   NCBI Sequence Viewer  
  AAS86526 (Get FASTA)   NCBI Sequence Viewer  
  AAS86527 (Get FASTA)   NCBI Sequence Viewer  
  AAS86528 (Get FASTA)   NCBI Sequence Viewer  
  AAS86529 (Get FASTA)   NCBI Sequence Viewer  
  AAS86530 (Get FASTA)   NCBI Sequence Viewer  
  AAS86531 (Get FASTA)   NCBI Sequence Viewer  
  AAS86532 (Get FASTA)   NCBI Sequence Viewer  
  AAS86533 (Get FASTA)   NCBI Sequence Viewer  
  AAS86534 (Get FASTA)   NCBI Sequence Viewer  
  AAS86535 (Get FASTA)   NCBI Sequence Viewer  
  AAS86536 (Get FASTA)   NCBI Sequence Viewer  
  AAS86537 (Get FASTA)   NCBI Sequence Viewer  
  AAS86538 (Get FASTA)   NCBI Sequence Viewer  
  AAS86539 (Get FASTA)   NCBI Sequence Viewer  
  AAS86540 (Get FASTA)   NCBI Sequence Viewer  
  AAS86541 (Get FASTA)   NCBI Sequence Viewer  
  AAS86542 (Get FASTA)   NCBI Sequence Viewer  
  AAS86543 (Get FASTA)   NCBI Sequence Viewer  
  AAS86544 (Get FASTA)   NCBI Sequence Viewer  
  AAS86545 (Get FASTA)   NCBI Sequence Viewer  
  AAS86546 (Get FASTA)   NCBI Sequence Viewer  
  AAS86547 (Get FASTA)   NCBI Sequence Viewer  
  AAS86548 (Get FASTA)   NCBI Sequence Viewer  
  AAS86549 (Get FASTA)   NCBI Sequence Viewer  
  AAS86550 (Get FASTA)   NCBI Sequence Viewer  
  AAS86551 (Get FASTA)   NCBI Sequence Viewer  
  AAS86552 (Get FASTA)   NCBI Sequence Viewer  
  AAS86553 (Get FASTA)   NCBI Sequence Viewer  
  AAS86554 (Get FASTA)   NCBI Sequence Viewer  
  AAS86555 (Get FASTA)   NCBI Sequence Viewer  
  AAS86581 (Get FASTA)   NCBI Sequence Viewer  
  AAS86582 (Get FASTA)   NCBI Sequence Viewer  
  AAS86583 (Get FASTA)   NCBI Sequence Viewer  
  AAS86584 (Get FASTA)   NCBI Sequence Viewer  
  AAS86585 (Get FASTA)   NCBI Sequence Viewer  
  AAS86586 (Get FASTA)   NCBI Sequence Viewer  
  AAS86587 (Get FASTA)   NCBI Sequence Viewer  
  AAS86588 (Get FASTA)   NCBI Sequence Viewer  
  AAS86589 (Get FASTA)   NCBI Sequence Viewer  
  AAS86590 (Get FASTA)   NCBI Sequence Viewer  
  AAS86591 (Get FASTA)   NCBI Sequence Viewer  
  AAS86592 (Get FASTA)   NCBI Sequence Viewer  
  AAS86593 (Get FASTA)   NCBI Sequence Viewer  
  AAS86594 (Get FASTA)   NCBI Sequence Viewer  
  AAS86595 (Get FASTA)   NCBI Sequence Viewer  
  AAS86596 (Get FASTA)   NCBI Sequence Viewer  
  AAS86597 (Get FASTA)   NCBI Sequence Viewer  
  AAS86598 (Get FASTA)   NCBI Sequence Viewer  
  AAS86599 (Get FASTA)   NCBI Sequence Viewer  
  AAS86600 (Get FASTA)   NCBI Sequence Viewer  
  AAS86601 (Get FASTA)   NCBI Sequence Viewer  
  AAS86602 (Get FASTA)   NCBI Sequence Viewer  
  AAS86603 (Get FASTA)   NCBI Sequence Viewer  
  AAS86604 (Get FASTA)   NCBI Sequence Viewer  
  AAS86605 (Get FASTA)   NCBI Sequence Viewer  
  AAS86606 (Get FASTA)   NCBI Sequence Viewer  
  AAS86607 (Get FASTA)   NCBI Sequence Viewer  
  AAS86608 (Get FASTA)   NCBI Sequence Viewer  
  AAS86609 (Get FASTA)   NCBI Sequence Viewer  
  AAS86610 (Get FASTA)   NCBI Sequence Viewer  
  AAS86611 (Get FASTA)   NCBI Sequence Viewer  
  AAS86612 (Get FASTA)   NCBI Sequence Viewer  
  AAS86613 (Get FASTA)   NCBI Sequence Viewer  
  AAS86614 (Get FASTA)   NCBI Sequence Viewer  
  AAS86615 (Get FASTA)   NCBI Sequence Viewer  
  AAS86616 (Get FASTA)   NCBI Sequence Viewer  
  AAS86617 (Get FASTA)   NCBI Sequence Viewer  
  AAS86618 (Get FASTA)   NCBI Sequence Viewer  
  AAS86619 (Get FASTA)   NCBI Sequence Viewer  
  AAS86620 (Get FASTA)   NCBI Sequence Viewer  
  AAS86621 (Get FASTA)   NCBI Sequence Viewer  
  AAS87606 (Get FASTA)   NCBI Sequence Viewer  
  AAS87607 (Get FASTA)   NCBI Sequence Viewer  
  AAS87608 (Get FASTA)   NCBI Sequence Viewer  
  AAS87609 (Get FASTA)   NCBI Sequence Viewer  
  AAS87610 (Get FASTA)   NCBI Sequence Viewer  
  AAS87611 (Get FASTA)   NCBI Sequence Viewer  
  AAS87612 (Get FASTA)   NCBI Sequence Viewer  
  AAS87613 (Get FASTA)   NCBI Sequence Viewer  
  AAS87614 (Get FASTA)   NCBI Sequence Viewer  
  AAS87615 (Get FASTA)   NCBI Sequence Viewer  
  AAS87616 (Get FASTA)   NCBI Sequence Viewer  
  AAS87617 (Get FASTA)   NCBI Sequence Viewer  
  AAS87618 (Get FASTA)   NCBI Sequence Viewer  
  AAS87619 (Get FASTA)   NCBI Sequence Viewer  
  AAS87620 (Get FASTA)   NCBI Sequence Viewer  
  AAS87621 (Get FASTA)   NCBI Sequence Viewer  
  AAS87622 (Get FASTA)   NCBI Sequence Viewer  
  AAS87623 (Get FASTA)   NCBI Sequence Viewer  
  AAS87624 (Get FASTA)   NCBI Sequence Viewer  
  AAS87625 (Get FASTA)   NCBI Sequence Viewer  
  AAS87626 (Get FASTA)   NCBI Sequence Viewer  
  AAS87627 (Get FASTA)   NCBI Sequence Viewer  
  AAS87628 (Get FASTA)   NCBI Sequence Viewer  
  AAS87629 (Get FASTA)   NCBI Sequence Viewer  
  AAS87630 (Get FASTA)   NCBI Sequence Viewer  
  AAS87631 (Get FASTA)   NCBI Sequence Viewer  
  AAS87632 (Get FASTA)   NCBI Sequence Viewer  
  AAS87633 (Get FASTA)   NCBI Sequence Viewer  
  AAS87634 (Get FASTA)   NCBI Sequence Viewer  
  AAS87635 (Get FASTA)   NCBI Sequence Viewer  
  AAS87636 (Get FASTA)   NCBI Sequence Viewer  
  AAS87637 (Get FASTA)   NCBI Sequence Viewer  
  AAS87638 (Get FASTA)   NCBI Sequence Viewer  
  AAS87639 (Get FASTA)   NCBI Sequence Viewer  
  AAS87640 (Get FASTA)   NCBI Sequence Viewer  
  AAS87641 (Get FASTA)   NCBI Sequence Viewer  
  AAS87642 (Get FASTA)   NCBI Sequence Viewer  
  AAS87643 (Get FASTA)   NCBI Sequence Viewer  
  AAS87644 (Get FASTA)   NCBI Sequence Viewer  
  AAS87645 (Get FASTA)   NCBI Sequence Viewer  
  AAS87646 (Get FASTA)   NCBI Sequence Viewer  
  AAS87672 (Get FASTA)   NCBI Sequence Viewer  
  AAS87673 (Get FASTA)   NCBI Sequence Viewer  
  AAS87674 (Get FASTA)   NCBI Sequence Viewer  
  AAS87675 (Get FASTA)   NCBI Sequence Viewer  
  AAS87676 (Get FASTA)   NCBI Sequence Viewer  
  AAS87677 (Get FASTA)   NCBI Sequence Viewer  
  AAS87678 (Get FASTA)   NCBI Sequence Viewer  
  AAS87679 (Get FASTA)   NCBI Sequence Viewer  
  AAS87680 (Get FASTA)   NCBI Sequence Viewer  
  AAS87681 (Get FASTA)   NCBI Sequence Viewer  
  AAS87682 (Get FASTA)   NCBI Sequence Viewer  
  AAS87683 (Get FASTA)   NCBI Sequence Viewer  
  AAS87684 (Get FASTA)   NCBI Sequence Viewer  
  AAS87685 (Get FASTA)   NCBI Sequence Viewer  
  AAS87686 (Get FASTA)   NCBI Sequence Viewer  
  AAS87687 (Get FASTA)   NCBI Sequence Viewer  
  AAS87688 (Get FASTA)   NCBI Sequence Viewer  
  AAS87689 (Get FASTA)   NCBI Sequence Viewer  
  AAS87690 (Get FASTA)   NCBI Sequence Viewer  
  AAS87691 (Get FASTA)   NCBI Sequence Viewer  
  AAS87692 (Get FASTA)   NCBI Sequence Viewer  
  AAS87693 (Get FASTA)   NCBI Sequence Viewer  
  AAS87694 (Get FASTA)   NCBI Sequence Viewer  
  AAS87695 (Get FASTA)   NCBI Sequence Viewer  
  AAS87696 (Get FASTA)   NCBI Sequence Viewer  
  AAS87697 (Get FASTA)   NCBI Sequence Viewer  
  AAS87698 (Get FASTA)   NCBI Sequence Viewer  
  AAS87699 (Get FASTA)   NCBI Sequence Viewer  
  AAS87700 (Get FASTA)   NCBI Sequence Viewer  
  AAS87701 (Get FASTA)   NCBI Sequence Viewer  
  AAS87702 (Get FASTA)   NCBI Sequence Viewer  
  AAS87703 (Get FASTA)   NCBI Sequence Viewer  
  AAS87704 (Get FASTA)   NCBI Sequence Viewer  
  AAS87705 (Get FASTA)   NCBI Sequence Viewer  
  AAS87706 (Get FASTA)   NCBI Sequence Viewer  
  AAS87707 (Get FASTA)   NCBI Sequence Viewer  
  AAS87708 (Get FASTA)   NCBI Sequence Viewer  
  AAS87709 (Get FASTA)   NCBI Sequence Viewer  
  AAS87710 (Get FASTA)   NCBI Sequence Viewer  
  AAS87711 (Get FASTA)   NCBI Sequence Viewer  
  AAS87712 (Get FASTA)   NCBI Sequence Viewer  
  AAS87738 (Get FASTA)   NCBI Sequence Viewer  
  AAS87739 (Get FASTA)   NCBI Sequence Viewer  
  AAS87740 (Get FASTA)   NCBI Sequence Viewer  
  AAS87741 (Get FASTA)   NCBI Sequence Viewer  
  AAS87742 (Get FASTA)   NCBI Sequence Viewer  
  AAS87743 (Get FASTA)   NCBI Sequence Viewer  
  AAS87744 (Get FASTA)   NCBI Sequence Viewer  
  AAS87745 (Get FASTA)   NCBI Sequence Viewer  
  AAS87746 (Get FASTA)   NCBI Sequence Viewer  
  AAS87747 (Get FASTA)   NCBI Sequence Viewer  
  AAS87748 (Get FASTA)   NCBI Sequence Viewer  
  AAS87749 (Get FASTA)   NCBI Sequence Viewer  
  AAS87750 (Get FASTA)   NCBI Sequence Viewer  
  AAS87751 (Get FASTA)   NCBI Sequence Viewer  
  AAS87752 (Get FASTA)   NCBI Sequence Viewer  
  AAS87753 (Get FASTA)   NCBI Sequence Viewer  
  AAS87754 (Get FASTA)   NCBI Sequence Viewer  
  AAS87755 (Get FASTA)   NCBI Sequence Viewer  
  AAS87756 (Get FASTA)   NCBI Sequence Viewer  
  AAS87757 (Get FASTA)   NCBI Sequence Viewer  
  AAS87758 (Get FASTA)   NCBI Sequence Viewer  
  AAS87759 (Get FASTA)   NCBI Sequence Viewer  
  AAS87760 (Get FASTA)   NCBI Sequence Viewer  
  AAS87761 (Get FASTA)   NCBI Sequence Viewer  
  AAS87762 (Get FASTA)   NCBI Sequence Viewer  
  AAS87763 (Get FASTA)   NCBI Sequence Viewer  
  AAS87764 (Get FASTA)   NCBI Sequence Viewer  
  AAS87765 (Get FASTA)   NCBI Sequence Viewer  
  AAS87766 (Get FASTA)   NCBI Sequence Viewer  
  AAS87767 (Get FASTA)   NCBI Sequence Viewer  
  AAS87768 (Get FASTA)   NCBI Sequence Viewer  
  AAS87769 (Get FASTA)   NCBI Sequence Viewer  
  AAS87770 (Get FASTA)   NCBI Sequence Viewer  
  AAS87771 (Get FASTA)   NCBI Sequence Viewer  
  AAS87772 (Get FASTA)   NCBI Sequence Viewer  
  AAS87773 (Get FASTA)   NCBI Sequence Viewer  
  AAS87774 (Get FASTA)   NCBI Sequence Viewer  
  AAS87775 (Get FASTA)   NCBI Sequence Viewer  
  AAS87776 (Get FASTA)   NCBI Sequence Viewer  
  AAS87777 (Get FASTA)   NCBI Sequence Viewer  
  AAS87778 (Get FASTA)   NCBI Sequence Viewer  
  AAS87804 (Get FASTA)   NCBI Sequence Viewer  
  AAS87805 (Get FASTA)   NCBI Sequence Viewer  
  AAS87806 (Get FASTA)   NCBI Sequence Viewer  
  AAS87807 (Get FASTA)   NCBI Sequence Viewer  
  AAS87808 (Get FASTA)   NCBI Sequence Viewer  
  AAS87809 (Get FASTA)   NCBI Sequence Viewer  
  AAS87810 (Get FASTA)   NCBI Sequence Viewer  
  AAS87811 (Get FASTA)   NCBI Sequence Viewer  
  AAS87812 (Get FASTA)   NCBI Sequence Viewer  
  AAS87813 (Get FASTA)   NCBI Sequence Viewer  
  AAS87814 (Get FASTA)   NCBI Sequence Viewer  
  AAS87815 (Get FASTA)   NCBI Sequence Viewer  
  AAS87816 (Get FASTA)   NCBI Sequence Viewer  
  AAS87817 (Get FASTA)   NCBI Sequence Viewer  
  AAS87818 (Get FASTA)   NCBI Sequence Viewer  
  AAS87819 (Get FASTA)   NCBI Sequence Viewer  
  AAS87820 (Get FASTA)   NCBI Sequence Viewer  
  AAS87821 (Get FASTA)   NCBI Sequence Viewer  
  AAS87822 (Get FASTA)   NCBI Sequence Viewer  
  AAS87823 (Get FASTA)   NCBI Sequence Viewer  
  AAS87824 (Get FASTA)   NCBI Sequence Viewer  
  AAS87825 (Get FASTA)   NCBI Sequence Viewer  
  AAS87826 (Get FASTA)   NCBI Sequence Viewer  
  AAS87827 (Get FASTA)   NCBI Sequence Viewer  
  AAS87828 (Get FASTA)   NCBI Sequence Viewer  
  AAS87829 (Get FASTA)   NCBI Sequence Viewer  
  AAS87834 (Get FASTA)   NCBI Sequence Viewer  
  AAS87835 (Get FASTA)   NCBI Sequence Viewer  
  AAS87836 (Get FASTA)   NCBI Sequence Viewer  
  AAS87837 (Get FASTA)   NCBI Sequence Viewer  
  AAS87838 (Get FASTA)   NCBI Sequence Viewer  
  AAS87839 (Get FASTA)   NCBI Sequence Viewer  
  AAS87840 (Get FASTA)   NCBI Sequence Viewer  
  AAS87841 (Get FASTA)   NCBI Sequence Viewer  
  AAS87842 (Get FASTA)   NCBI Sequence Viewer  
  AAS87843 (Get FASTA)   NCBI Sequence Viewer  
  AAS87844 (Get FASTA)   NCBI Sequence Viewer  
  AAS87845 (Get FASTA)   NCBI Sequence Viewer  
  AAS87846 (Get FASTA)   NCBI Sequence Viewer  
  AAS87847 (Get FASTA)   NCBI Sequence Viewer  
  AAS87848 (Get FASTA)   NCBI Sequence Viewer  
  AAS87849 (Get FASTA)   NCBI Sequence Viewer  
  AAS87850 (Get FASTA)   NCBI Sequence Viewer  
  AAS87851 (Get FASTA)   NCBI Sequence Viewer  
  AAS87852 (Get FASTA)   NCBI Sequence Viewer  
  AAS87853 (Get FASTA)   NCBI Sequence Viewer  
  AAS87854 (Get FASTA)   NCBI Sequence Viewer  
  AAS87855 (Get FASTA)   NCBI Sequence Viewer  
  AAS87856 (Get FASTA)   NCBI Sequence Viewer  
  AAS87857 (Get FASTA)   NCBI Sequence Viewer  
  AAS87858 (Get FASTA)   NCBI Sequence Viewer  
  AAS87859 (Get FASTA)   NCBI Sequence Viewer  
  AAS87860 (Get FASTA)   NCBI Sequence Viewer  
  AAS87861 (Get FASTA)   NCBI Sequence Viewer  
  AAS87862 (Get FASTA)   NCBI Sequence Viewer  
  AAS87863 (Get FASTA)   NCBI Sequence Viewer  
  AAS87864 (Get FASTA)   NCBI Sequence Viewer  
  AAS87865 (Get FASTA)   NCBI Sequence Viewer  
  AAS87866 (Get FASTA)   NCBI Sequence Viewer  
  AAS87867 (Get FASTA)   NCBI Sequence Viewer  
  AAS87868 (Get FASTA)   NCBI Sequence Viewer  
  AAS87869 (Get FASTA)   NCBI Sequence Viewer  
  AAS87870 (Get FASTA)   NCBI Sequence Viewer  
  AAS87871 (Get FASTA)   NCBI Sequence Viewer  
  AAS87872 (Get FASTA)   NCBI Sequence Viewer  
  AAS87873 (Get FASTA)   NCBI Sequence Viewer  
  AAS87874 (Get FASTA)   NCBI Sequence Viewer  
  AAS87900 (Get FASTA)   NCBI Sequence Viewer  
  AAS87901 (Get FASTA)   NCBI Sequence Viewer  
  AAS87902 (Get FASTA)   NCBI Sequence Viewer  
  AAS87903 (Get FASTA)   NCBI Sequence Viewer  
  AAS87904 (Get FASTA)   NCBI Sequence Viewer  
  AAS87905 (Get FASTA)   NCBI Sequence Viewer  
  AAS87906 (Get FASTA)   NCBI Sequence Viewer  
  AAS87907 (Get FASTA)   NCBI Sequence Viewer  
  AAS87908 (Get FASTA)   NCBI Sequence Viewer  
  AAS87909 (Get FASTA)   NCBI Sequence Viewer  
  AAS87910 (Get FASTA)   NCBI Sequence Viewer  
  AAS87911 (Get FASTA)   NCBI Sequence Viewer  
  AAS87912 (Get FASTA)   NCBI Sequence Viewer  
  AAS87913 (Get FASTA)   NCBI Sequence Viewer  
  AAS87914 (Get FASTA)   NCBI Sequence Viewer  
  AAS87915 (Get FASTA)   NCBI Sequence Viewer  
  AAS87916 (Get FASTA)   NCBI Sequence Viewer  
  AAS87917 (Get FASTA)   NCBI Sequence Viewer  
  AAS87918 (Get FASTA)   NCBI Sequence Viewer  
  AAS87919 (Get FASTA)   NCBI Sequence Viewer  
  AAS87920 (Get FASTA)   NCBI Sequence Viewer  
  AAS87921 (Get FASTA)   NCBI Sequence Viewer  
  AAS87922 (Get FASTA)   NCBI Sequence Viewer  
  AAS87923 (Get FASTA)   NCBI Sequence Viewer  
  AAS87924 (Get FASTA)   NCBI Sequence Viewer  
  AAS87925 (Get FASTA)   NCBI Sequence Viewer  
  AAS87926 (Get FASTA)   NCBI Sequence Viewer  
  AAS87927 (Get FASTA)   NCBI Sequence Viewer  
  AAS87928 (Get FASTA)   NCBI Sequence Viewer  
  AAS87929 (Get FASTA)   NCBI Sequence Viewer  
  AAS87930 (Get FASTA)   NCBI Sequence Viewer  
  AAS87931 (Get FASTA)   NCBI Sequence Viewer  
  AAS87932 (Get FASTA)   NCBI Sequence Viewer  
  AAS87933 (Get FASTA)   NCBI Sequence Viewer  
  AAS87934 (Get FASTA)   NCBI Sequence Viewer  
  AAS87935 (Get FASTA)   NCBI Sequence Viewer  
  AAS87936 (Get FASTA)   NCBI Sequence Viewer  
  AAS87937 (Get FASTA)   NCBI Sequence Viewer  
  AAS87938 (Get FASTA)   NCBI Sequence Viewer  
  AAS87939 (Get FASTA)   NCBI Sequence Viewer  
  AAS87940 (Get FASTA)   NCBI Sequence Viewer  
  AAS87966 (Get FASTA)   NCBI Sequence Viewer  
  AAS87967 (Get FASTA)   NCBI Sequence Viewer  
  AAS87968 (Get FASTA)   NCBI Sequence Viewer  
  AAS87969 (Get FASTA)   NCBI Sequence Viewer  
  AAS87970 (Get FASTA)   NCBI Sequence Viewer  
  AAS87971 (Get FASTA)   NCBI Sequence Viewer  
  AAS87972 (Get FASTA)   NCBI Sequence Viewer  
  AAS87973 (Get FASTA)   NCBI Sequence Viewer  
  AAS87974 (Get FASTA)   NCBI Sequence Viewer  
  AAS87975 (Get FASTA)   NCBI Sequence Viewer  
  AAS87976 (Get FASTA)   NCBI Sequence Viewer  
  AAS87977 (Get FASTA)   NCBI Sequence Viewer  
  AAS87978 (Get FASTA)   NCBI Sequence Viewer  
  AAS87979 (Get FASTA)   NCBI Sequence Viewer  
  AAS87980 (Get FASTA)   NCBI Sequence Viewer  
  AAS87981 (Get FASTA)   NCBI Sequence Viewer  
  AAS87982 (Get FASTA)   NCBI Sequence Viewer  
  AAS87983 (Get FASTA)   NCBI Sequence Viewer  
  AAS87984 (Get FASTA)   NCBI Sequence Viewer  
  AAS87985 (Get FASTA)   NCBI Sequence Viewer  
  AAS87986 (Get FASTA)   NCBI Sequence Viewer  
  AAS87987 (Get FASTA)   NCBI Sequence Viewer  
  AAS87988 (Get FASTA)   NCBI Sequence Viewer  
  AAS87989 (Get FASTA)   NCBI Sequence Viewer  
  AAS87990 (Get FASTA)   NCBI Sequence Viewer  
  AAS87991 (Get FASTA)   NCBI Sequence Viewer  
  AAS87992 (Get FASTA)   NCBI Sequence Viewer  
  AAS87993 (Get FASTA)   NCBI Sequence Viewer  
  AAS87994 (Get FASTA)   NCBI Sequence Viewer  
  AAS87995 (Get FASTA)   NCBI Sequence Viewer  
  AAS87996 (Get FASTA)   NCBI Sequence Viewer  
  AAS87997 (Get FASTA)   NCBI Sequence Viewer  
  AAS87998 (Get FASTA)   NCBI Sequence Viewer  
  AAS87999 (Get FASTA)   NCBI Sequence Viewer  
  AAS88000 (Get FASTA)   NCBI Sequence Viewer  
  AAS88001 (Get FASTA)   NCBI Sequence Viewer  
  AAS88002 (Get FASTA)   NCBI Sequence Viewer  
  AAS88003 (Get FASTA)   NCBI Sequence Viewer  
  AAS88004 (Get FASTA)   NCBI Sequence Viewer  
  AAS88005 (Get FASTA)   NCBI Sequence Viewer  
  AAS88006 (Get FASTA)   NCBI Sequence Viewer  
  AAS88032 (Get FASTA)   NCBI Sequence Viewer  
  AAS88033 (Get FASTA)   NCBI Sequence Viewer  
  AAS88034 (Get FASTA)   NCBI Sequence Viewer  
  AAS88035 (Get FASTA)   NCBI Sequence Viewer  
  AAS88036 (Get FASTA)   NCBI Sequence Viewer  
  AAS88037 (Get FASTA)   NCBI Sequence Viewer  
  AAS88038 (Get FASTA)   NCBI Sequence Viewer  
  AAS88039 (Get FASTA)   NCBI Sequence Viewer  
  AAS88040 (Get FASTA)   NCBI Sequence Viewer  
  AAS88041 (Get FASTA)   NCBI Sequence Viewer  
  AAS88042 (Get FASTA)   NCBI Sequence Viewer  
  AAS88043 (Get FASTA)   NCBI Sequence Viewer  
  AAS88044 (Get FASTA)   NCBI Sequence Viewer  
  AAS88045 (Get FASTA)   NCBI Sequence Viewer  
  AAS88046 (Get FASTA)   NCBI Sequence Viewer  
  AAS88047 (Get FASTA)   NCBI Sequence Viewer  
  AAS88048 (Get FASTA)   NCBI Sequence Viewer  
  AAS88049 (Get FASTA)   NCBI Sequence Viewer  
  AAS88050 (Get FASTA)   NCBI Sequence Viewer  
  AAS88051 (Get FASTA)   NCBI Sequence Viewer  
  AAS88052 (Get FASTA)   NCBI Sequence Viewer  
  AAS88053 (Get FASTA)   NCBI Sequence Viewer  
  AAS88054 (Get FASTA)   NCBI Sequence Viewer  
  AAS88055 (Get FASTA)   NCBI Sequence Viewer  
  AAS88056 (Get FASTA)   NCBI Sequence Viewer  
  AAS88057 (Get FASTA)   NCBI Sequence Viewer  
  AAS88058 (Get FASTA)   NCBI Sequence Viewer  
  AAS88059 (Get FASTA)   NCBI Sequence Viewer  
  AAS88060 (Get FASTA)   NCBI Sequence Viewer  
  AAS88061 (Get FASTA)   NCBI Sequence Viewer  
  AAS88062 (Get FASTA)   NCBI Sequence Viewer  
  AAS88063 (Get FASTA)   NCBI Sequence Viewer  
  AAS88064 (Get FASTA)   NCBI Sequence Viewer  
  AAS88065 (Get FASTA)   NCBI Sequence Viewer  
  AAS88066 (Get FASTA)   NCBI Sequence Viewer  
  AAS88067 (Get FASTA)   NCBI Sequence Viewer  
  AAS88068 (Get FASTA)   NCBI Sequence Viewer  
  AAS88069 (Get FASTA)   NCBI Sequence Viewer  
  AAS88070 (Get FASTA)   NCBI Sequence Viewer  
  AAS88071 (Get FASTA)   NCBI Sequence Viewer  
  AAS88072 (Get FASTA)   NCBI Sequence Viewer  
  AAS88624 (Get FASTA)   NCBI Sequence Viewer  
  AAS88625 (Get FASTA)   NCBI Sequence Viewer  
  AAS88626 (Get FASTA)   NCBI Sequence Viewer  
  AAS88627 (Get FASTA)   NCBI Sequence Viewer  
  AAS88628 (Get FASTA)   NCBI Sequence Viewer  
  AAS88629 (Get FASTA)   NCBI Sequence Viewer  
  AAS88630 (Get FASTA)   NCBI Sequence Viewer  
  AAS88631 (Get FASTA)   NCBI Sequence Viewer  
  AAS88632 (Get FASTA)   NCBI Sequence Viewer  
  AAS88633 (Get FASTA)   NCBI Sequence Viewer  
  AAS88634 (Get FASTA)   NCBI Sequence Viewer  
  AAS88635 (Get FASTA)   NCBI Sequence Viewer  
  AAS88636 (Get FASTA)   NCBI Sequence Viewer  
  AAS88637 (Get FASTA)   NCBI Sequence Viewer  
  AAS88638 (Get FASTA)   NCBI Sequence Viewer  
  AAS88639 (Get FASTA)   NCBI Sequence Viewer  
  AAS88640 (Get FASTA)   NCBI Sequence Viewer  
  AAS88641 (Get FASTA)   NCBI Sequence Viewer  
  AAS88642 (Get FASTA)   NCBI Sequence Viewer  
  AAS88643 (Get FASTA)   NCBI Sequence Viewer  
  AAS88644 (Get FASTA)   NCBI Sequence Viewer  
  AAS88645 (Get FASTA)   NCBI Sequence Viewer  
  AAS88646 (Get FASTA)   NCBI Sequence Viewer  
  AAS88647 (Get FASTA)   NCBI Sequence Viewer  
  AAS88648 (Get FASTA)   NCBI Sequence Viewer  
  AAS88649 (Get FASTA)   NCBI Sequence Viewer  
  AAS88654 (Get FASTA)   NCBI Sequence Viewer  
  AAS88655 (Get FASTA)   NCBI Sequence Viewer  
  AAS88656 (Get FASTA)   NCBI Sequence Viewer  
  AAS88657 (Get FASTA)   NCBI Sequence Viewer  
  AAS88658 (Get FASTA)   NCBI Sequence Viewer  
  AAS88659 (Get FASTA)   NCBI Sequence Viewer  
  AAS88660 (Get FASTA)   NCBI Sequence Viewer  
  AAS88661 (Get FASTA)   NCBI Sequence Viewer  
  AAS88662 (Get FASTA)   NCBI Sequence Viewer  
  AAS88663 (Get FASTA)   NCBI Sequence Viewer  
  AAS88664 (Get FASTA)   NCBI Sequence Viewer  
  AAS88665 (Get FASTA)   NCBI Sequence Viewer  
  AAS88666 (Get FASTA)   NCBI Sequence Viewer  
  AAS88667 (Get FASTA)   NCBI Sequence Viewer  
  AAS88668 (Get FASTA)   NCBI Sequence Viewer  
  AAS88669 (Get FASTA)   NCBI Sequence Viewer  
  AAS88670 (Get FASTA)   NCBI Sequence Viewer  
  AAS88671 (Get FASTA)   NCBI Sequence Viewer  
  AAS88672 (Get FASTA)   NCBI Sequence Viewer  
  AAS88673 (Get FASTA)   NCBI Sequence Viewer  
  AAS88674 (Get FASTA)   NCBI Sequence Viewer  
  AAS88675 (Get FASTA)   NCBI Sequence Viewer  
  AAS88676 (Get FASTA)   NCBI Sequence Viewer  
  AAS88677 (Get FASTA)   NCBI Sequence Viewer  
  AAS88678 (Get FASTA)   NCBI Sequence Viewer  
  AAS88679 (Get FASTA)   NCBI Sequence Viewer  
  AAS88680 (Get FASTA)   NCBI Sequence Viewer  
  AAS88681 (Get FASTA)   NCBI Sequence Viewer  
  AAS88682 (Get FASTA)   NCBI Sequence Viewer  
  AAS88683 (Get FASTA)   NCBI Sequence Viewer  
  AAS88684 (Get FASTA)   NCBI Sequence Viewer  
  AAS88685 (Get FASTA)   NCBI Sequence Viewer  
  AAS88686 (Get FASTA)   NCBI Sequence Viewer  
  AAS88687 (Get FASTA)   NCBI Sequence Viewer  
  AAS88688 (Get FASTA)   NCBI Sequence Viewer  
  AAS88689 (Get FASTA)   NCBI Sequence Viewer  
  AAS88690 (Get FASTA)   NCBI Sequence Viewer  
  AAS88691 (Get FASTA)   NCBI Sequence Viewer  
  AAS88692 (Get FASTA)   NCBI Sequence Viewer  
  AAS88693 (Get FASTA)   NCBI Sequence Viewer  
  AAS88694 (Get FASTA)   NCBI Sequence Viewer  
  AEW10521 (Get FASTA)   NCBI Sequence Viewer  
  ANE06559 (Get FASTA)   NCBI Sequence Viewer  
  AOA60066 (Get FASTA)   NCBI Sequence Viewer  
  BAB14304 (Get FASTA)   NCBI Sequence Viewer  
  BAG63174 (Get FASTA)   NCBI Sequence Viewer  
  CAC34661 (Get FASTA)   NCBI Sequence Viewer  
  DAA04567 (Get FASTA)   NCBI Sequence Viewer  
  EAW80468 (Get FASTA)   NCBI Sequence Viewer  
  EAW80469 (Get FASTA)   NCBI Sequence Viewer  
  EAW80470 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000342924
  ENSP00000342924.5
  ENSP00000430768
  ENSP00000430768.1
  ENSP00000430962
  ENSP00000430962.1
  ENSP00000509053.1
  ENSP00000509054
  ENSP00000509054.1
  ENSP00000509072
  ENSP00000509072.1
  ENSP00000509135.1
  ENSP00000509554
  ENSP00000509554.1
  ENSP00000509622.1
  ENSP00000509652.1
  ENSP00000509664.1
  ENSP00000509722.1
  ENSP00000509896.1
  ENSP00000509971.1
  ENSP00000509998.1
  ENSP00000510001
  ENSP00000510001.1
  ENSP00000510065.1
  ENSP00000510092
  ENSP00000510092.1
  ENSP00000510400.1
  ENSP00000510482.1
  ENSP00000510536
  ENSP00000510536.1
  ENSP00000510556.1
  ENSP00000510583.1
  ENSP00000510652
  ENSP00000510652.1
  ENSP00000510728.1
  ENSP00000510764.1
GenBank Protein Q8NEM0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_078872   ⟸   NM_024596
- Peptide Label: isoform 1
- UniProtKB: Q8NEM0 (UniProtKB/Swiss-Prot),   Q66GU1 (UniProtKB/Swiss-Prot),   E9PH63 (UniProtKB/Swiss-Prot),   E9PGU5 (UniProtKB/Swiss-Prot),   B4DWW2 (UniProtKB/Swiss-Prot),   A0A075B6F8 (UniProtKB/Swiss-Prot),   Q9H9C7 (UniProtKB/Swiss-Prot),   A0A8I5KX36 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001166045   ⟸   NM_001172574
- Peptide Label: isoform 2
- UniProtKB: A0A8I5KRI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001166046   ⟸   NM_001172575
- Peptide Label: isoform 3
- UniProtKB: A0A8I5KRI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533059   ⟸   XM_011534757
- Peptide Label: isoform X6
- UniProtKB: A0A8I5QKY7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533058   ⟸   XM_011534756
- Peptide Label: isoform X4
- UniProtKB: A0A8I5QKY7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533060   ⟸   XM_011534758
- Peptide Label: isoform X8
- UniProtKB: A0A8I5QKY7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308971   ⟸   NM_001322042
- Peptide Label: isoform 4
- UniProtKB: A0A8I5KV10 (UniProtKB/TrEMBL),   A0A8I5KX36 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308972   ⟸   NM_001322043
- Peptide Label: isoform 5
- UniProtKB: A0A8I5KR64 (UniProtKB/TrEMBL),   A0A8I5KRI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308974   ⟸   NM_001322045
- Peptide Label: isoform 6
- UniProtKB: A0A8I5KRI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869318   ⟸   XM_017013829
- Peptide Label: isoform X1
- UniProtKB: A0A8I5KX36 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869322   ⟸   XM_017013833
- Peptide Label: isoform X7
- UniProtKB: A0A8I5QKY7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869321   ⟸   XM_017013832
- Peptide Label: isoform X3
- UniProtKB: A0A8I5QKY7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350909   ⟸   NM_001363980
- Peptide Label: isoform 8
- UniProtKB: A0A8I5KR97 (UniProtKB/TrEMBL),   A0A8I5QKY7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350908   ⟸   NM_001363979
- Peptide Label: isoform 7
- UniProtKB: A0A8I5KW78 (UniProtKB/TrEMBL),   A0A8I5KX36 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000430962   ⟸   ENST00000519480
RefSeq Acc Id: ENSP00000430768   ⟸   ENST00000522905
RefSeq Acc Id: ENSP00000342924   ⟸   ENST00000344683
RefSeq Acc Id: ENSP00000510536   ⟸   ENST00000690826
RefSeq Acc Id: ENSP00000509896   ⟸   ENST00000690682
RefSeq Acc Id: ENSP00000509722   ⟸   ENST00000689736
RefSeq Acc Id: ENSP00000510092   ⟸   ENST00000688388
RefSeq Acc Id: ENSP00000510728   ⟸   ENST00000687720
RefSeq Acc Id: ENSP00000510583   ⟸   ENST00000687413
RefSeq Acc Id: ENSP00000509072   ⟸   ENST00000692938
RefSeq Acc Id: ENSP00000509652   ⟸   ENST00000691655
RefSeq Acc Id: ENSP00000509554   ⟸   ENST00000689348
RefSeq Acc Id: ENSP00000509998   ⟸   ENST00000688101
RefSeq Acc Id: ENSP00000510400   ⟸   ENST00000690708
RefSeq Acc Id: ENSP00000510065   ⟸   ENST00000692534
RefSeq Acc Id: ENSP00000509054   ⟸   ENST00000689633
RefSeq Acc Id: ENSP00000510764   ⟸   ENST00000693231
RefSeq Acc Id: ENSP00000510556   ⟸   ENST00000688452
RefSeq Acc Id: ENSP00000509135   ⟸   ENST00000690518
RefSeq Acc Id: ENSP00000509622   ⟸   ENST00000688099
RefSeq Acc Id: ENSP00000510652   ⟸   ENST00000691435
RefSeq Acc Id: ENSP00000509053   ⟸   ENST00000686750
RefSeq Acc Id: ENSP00000509971   ⟸   ENST00000692836
RefSeq Acc Id: ENSP00000510001   ⟸   ENST00000685179
RefSeq Acc Id: ENSP00000510482   ⟸   ENST00000690159
RefSeq Acc Id: XP_047278190   ⟸   XM_047422234
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047278189   ⟸   XM_047422233
- Peptide Label: isoform X2
RefSeq Acc Id: NP_001397846   ⟸   NM_001410917
- Peptide Label: isoform 10
- UniProtKB: A0A8I5KPV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397845   ⟸   NM_001410916
- Peptide Label: isoform 9
- UniProtKB: A0A8I5KZ89 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217205   ⟸   XM_054361230
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054217203   ⟸   XM_054361228
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054217200   ⟸   XM_054361225
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054217199   ⟸   XM_054361224
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054217201   ⟸   XM_054361226
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054217202   ⟸   XM_054361227
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054217204   ⟸   XM_054361229
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054217206   ⟸   XM_054361231
- Peptide Label: isoform X8
Protein Domains
BRCT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NEM0-F1-model_v2 AlphaFold Q8NEM0 1-835 view protein structure

Promoters
RGD ID:6806876
Promoter ID:HG_KWN:60552
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000344683,   NM_001172574,   NM_001172575,   UC003WQF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3686,251,244 - 6,251,744 (+)MPROMDB
RGD ID:7212537
Promoter ID:EPDNEW_H12015
Type:initiation region
Name:MCPH1_1
Description:microcephalin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3886,406,627 - 6,406,687EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6954 AgrOrtholog
COSMIC MCPH1 COSMIC
Ensembl Genes ENSG00000147316 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000344683 ENTREZGENE
  ENST00000344683.10 UniProtKB/Swiss-Prot
  ENST00000519480 ENTREZGENE
  ENST00000519480.6 UniProtKB/Swiss-Prot
  ENST00000521129.2 UniProtKB/TrEMBL
  ENST00000522905 ENTREZGENE
  ENST00000522905.1 UniProtKB/Swiss-Prot
  ENST00000685179 ENTREZGENE
  ENST00000685179.1 UniProtKB/TrEMBL
  ENST00000686750.1 UniProtKB/TrEMBL
  ENST00000687413.1 UniProtKB/TrEMBL
  ENST00000687720.1 UniProtKB/TrEMBL
  ENST00000688099.1 UniProtKB/TrEMBL
  ENST00000688101.1 UniProtKB/TrEMBL
  ENST00000688388 ENTREZGENE
  ENST00000688388.1 UniProtKB/TrEMBL
  ENST00000688452.1 UniProtKB/TrEMBL
  ENST00000688912 ENTREZGENE
  ENST00000689348 ENTREZGENE
  ENST00000689348.1 UniProtKB/TrEMBL
  ENST00000689633 ENTREZGENE
  ENST00000689633.1 UniProtKB/TrEMBL
  ENST00000689736.1 UniProtKB/TrEMBL
  ENST00000690159.1 UniProtKB/TrEMBL
  ENST00000690518.1 UniProtKB/TrEMBL
  ENST00000690682.1 UniProtKB/TrEMBL
  ENST00000690708.1 UniProtKB/TrEMBL
  ENST00000690826 ENTREZGENE
  ENST00000690826.1 UniProtKB/TrEMBL
  ENST00000691435 ENTREZGENE
  ENST00000691435.1 UniProtKB/TrEMBL
  ENST00000691655.1 UniProtKB/TrEMBL
  ENST00000692534.1 UniProtKB/TrEMBL
  ENST00000692836.1 UniProtKB/TrEMBL
  ENST00000692938 ENTREZGENE
  ENST00000692938.1 UniProtKB/TrEMBL
  ENST00000693231.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147316 GTEx
HGNC ID HGNC:6954 ENTREZGENE
Human Proteome Map MCPH1 Human Proteome Map
InterPro BRCT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRCT_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Microcephalin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Microcephalin_mammal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79648 UniProtKB/Swiss-Prot
NCBI Gene 79648 ENTREZGENE
OMIM 607117 OMIM
PANTHER HIGH MOBILITY GROUP AT-HOOK 2 UniProtKB/TrEMBL
  MICROCEPHALIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN GVQW1-RELATED UniProtKB/TrEMBL
  PTHR14625 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BRCT UniProtKB/TrEMBL
  BRCT_2 UniProtKB/TrEMBL
  Microcephalin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTCB-BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30701 PharmGKB
PROSITE BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B6F8 ENTREZGENE
  A0A172QZW0_HUMAN UniProtKB/TrEMBL
  A0A1B2M4G2_HUMAN UniProtKB/TrEMBL
  A0A8I5KPV6 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KQQ3_HUMAN UniProtKB/TrEMBL
  A0A8I5KQZ4_HUMAN UniProtKB/TrEMBL
  A0A8I5KR64 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KR97 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KRI7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KRS3_HUMAN UniProtKB/TrEMBL
  A0A8I5KSF2_HUMAN UniProtKB/TrEMBL
  A0A8I5KTK9_HUMAN UniProtKB/TrEMBL
  A0A8I5KV10 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KW78 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KWR1_HUMAN UniProtKB/TrEMBL
  A0A8I5KX36 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KXJ5_HUMAN UniProtKB/TrEMBL
  A0A8I5KXP9_HUMAN UniProtKB/TrEMBL
  A0A8I5KYD2_HUMAN UniProtKB/TrEMBL
  A0A8I5KYX6_HUMAN UniProtKB/TrEMBL
  A0A8I5KZ89 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5QJK3_HUMAN UniProtKB/TrEMBL
  A0A8I5QKX9_HUMAN UniProtKB/TrEMBL
  A0A8I5QKY7 ENTREZGENE, UniProtKB/TrEMBL
  B4DWW2 ENTREZGENE
  E9PGU5 ENTREZGENE
  E9PH63 ENTREZGENE
  H8ZSC4_HUMAN UniProtKB/TrEMBL
  MCPH1_HUMAN UniProtKB/Swiss-Prot
  Q66GU1 ENTREZGENE
  Q6R9U8_HUMAN UniProtKB/TrEMBL
  Q6R9U9_HUMAN UniProtKB/TrEMBL
  Q6R9V4_HUMAN UniProtKB/TrEMBL
  Q6RA50_HUMAN UniProtKB/TrEMBL
  Q6RA82_HUMAN UniProtKB/TrEMBL
  Q6RAB1_HUMAN UniProtKB/TrEMBL
  Q6RAB6_HUMAN UniProtKB/TrEMBL
  Q6RAI2_HUMAN UniProtKB/TrEMBL
  Q6RAP8_HUMAN UniProtKB/TrEMBL
  Q6RAQ8_HUMAN UniProtKB/TrEMBL
  Q6RAR7_HUMAN UniProtKB/TrEMBL
  Q6RAS0_HUMAN UniProtKB/TrEMBL
  Q6RAS1_HUMAN UniProtKB/TrEMBL
  Q6RAS2_HUMAN UniProtKB/TrEMBL
  Q6RAS3_HUMAN UniProtKB/TrEMBL
  Q6RAS6_HUMAN UniProtKB/TrEMBL
  Q6RAS8_HUMAN UniProtKB/TrEMBL
  Q6RAY6_HUMAN UniProtKB/TrEMBL
  Q6RAZ4_HUMAN UniProtKB/TrEMBL
  Q6RB57_HUMAN UniProtKB/TrEMBL
  Q6RB59_HUMAN UniProtKB/TrEMBL
  Q6RB60_HUMAN UniProtKB/TrEMBL
  Q6RBC6_HUMAN UniProtKB/TrEMBL
  Q6RBG9_HUMAN UniProtKB/TrEMBL
  Q6RBJ2_HUMAN UniProtKB/TrEMBL
  Q6RBQ8_HUMAN UniProtKB/TrEMBL
  Q6RBX4_HUMAN UniProtKB/TrEMBL
  Q6W788_HUMAN UniProtKB/TrEMBL
  Q6W791_HUMAN UniProtKB/TrEMBL
  Q6W795_HUMAN UniProtKB/TrEMBL
  Q6W796_HUMAN UniProtKB/TrEMBL
  Q6W799_HUMAN UniProtKB/TrEMBL
  Q6W7E0_HUMAN UniProtKB/TrEMBL
  Q6W7E4_HUMAN UniProtKB/TrEMBL
  Q6W7E5_HUMAN UniProtKB/TrEMBL
  Q8NEM0 ENTREZGENE
  Q9H9C7 ENTREZGENE
UniProt Secondary A0A075B6F8 UniProtKB/Swiss-Prot
  B4DWW2 UniProtKB/Swiss-Prot
  E9PGU5 UniProtKB/Swiss-Prot
  E9PH63 UniProtKB/Swiss-Prot
  Q66GU1 UniProtKB/Swiss-Prot
  Q9H9C7 UniProtKB/Swiss-Prot