KAT6A (lysine acetyltransferase 6A) - Rat Genome Database

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Gene: KAT6A (lysine acetyltransferase 6A) Homo sapiens
Analyze
Symbol: KAT6A
Name: lysine acetyltransferase 6A
RGD ID: 1312590
HGNC Page HGNC:13013
Description: Enables several functions, including histone acetyltransferase activity; transcription coactivator activity; and zinc ion binding activity. Involved in cellular senescence; myeloid cell differentiation; and regulation of DNA-templated transcription. Located in MOZ/MORF histone acetyltransferase complex; cytosol; and nuclear lumen. Implicated in Arboleda-Tham syndrome and acute myeloid leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARTHS; histone acetyltransferase KAT6A; histone acetyltransferase MYST3; K(lysine) acetyltransferase 6A; MGC167033; Monocytic leukemia zinc finger protein; MOZ; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3; MRD32; MYST histone acetyltransferase (monocytic leukemia) 3; MYST-3; MYST3; runt-related transcription factor binding protein 2; runt-related transcription factor-binding protein 2; RUNXBP2; ZC2HC6A; zinc finger protein 220; ZNF220
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
GRCh38841,929,479 - 42,051,987 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl841,929,479 - 42,051,994 (-)EnsemblGRCh38hg38GRCh38
GRCh37841,786,997 - 41,909,505 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36841,906,154 - 42,028,662 (-)NCBINCBI36Build 36hg18NCBI36
Build 34841,907,425 - 42,028,635NCBI
Celera840,736,067 - 40,858,643 (-)NCBICelera
Cytogenetic Map8p11.21NCBI
HuRef840,314,984 - 40,434,974 (-)NCBIHuRef
CHM1_1841,835,431 - 41,957,801 (-)NCBICHM1_1
T2T-CHM13v2.0842,203,787 - 42,326,296 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IBA)
cytosol  (IDA)
histone acetyltransferase complex  (IEA)
MOZ/MORF histone acetyltransferase complex  (IBA,IDA,IEA,ISS)
nuclear speck  (IDA)
nucleolus  (IDA,IEA)
nucleoplasm  (IEA,TAS)
nucleosome  (IEA)
nucleus  (IBA,IDA,IEA,ISS)
PML body  (IDA,IEA)

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

Human Phenotype
3-4 finger cutaneous syndactyly  (IAGP)
Abnormal facial shape  (IAGP)
Absent speech  (IAGP)
Amblyopia  (IAGP)
Anteverted ears  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Axial hypotonia  (IAGP)
Bifid nasal tip  (IAGP)
Bilateral cryptorchidism  (IAGP)
Brachydactyly  (IAGP)
Broad nasal tip  (IAGP)
Bronchomalacia  (IAGP)
Cerebral visual impairment  (IAGP)
Chronic otitis media  (IAGP)
Cleft palate  (IAGP)
Congenital onset  (IAGP)
Conjunctivitis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ability to walk  (IAGP)
Deviation of the hallux  (IAGP)
Downturned corners of mouth  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Enlarged proximal interphalangeal joints  (IAGP)
Epicanthus  (IAGP)
Esodeviation  (IAGP)
Esotropia  (IAGP)
Facial asymmetry  (IAGP)
Feeding difficulties  (IAGP)
Freckling  (IAGP)
Frontal bossing  (IAGP)
Gait imbalance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Genu valgum  (IAGP)
Genu varum  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hammertoe  (IAGP)
Highly arched eyebrow  (IAGP)
Hydronephrosis  (IAGP)
Hypotonia  (IAGP)
Insomnia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Inverted nipples  (IAGP)
Lacrimal duct stenosis  (IAGP)
Laryngomalacia  (IAGP)
Long face  (IAGP)
Long thorax  (IAGP)
Low hanging columella  (IAGP)
Low-set ears  (IAGP)
Low-set nipples  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lower limb amyotrophy  (IAGP)
Lower limb asymmetry  (IAGP)
Lower limb hypertonia  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Microretrognathia  (IAGP)
Midface retrusion  (IAGP)
Motor stereotypy  (IAGP)
Muscle stiffness  (IAGP)
Myopia  (IAGP)
Narrow chest  (IAGP)
Narrow forehead  (IAGP)
Narrow mouth  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal respiratory distress  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Optic atrophy  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Peg-shaped maxillary lateral incisors  (IAGP)
Pes planus  (IAGP)
Plagiocephaly  (IAGP)
Pointed chin  (IAGP)
Poor speech  (IAGP)
Posteriorly rotated ears  (IAGP)
Preauricular pit  (IAGP)
Primary microcephaly  (IAGP)
Prominent antihelix  (IAGP)
Prominent antitragus  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent umbilicus  (IAGP)
Proptosis  (IAGP)
Protuberant abdomen  (IAGP)
Ptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent aspiration pneumonia  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Respiratory distress  (IAGP)
Sandal gap  (IAGP)
Secundum atrial septal defect  (IAGP)
Seizure  (IAGP)
Short hallux  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Sleep abnormality  (IAGP)
Small earlobe  (IAGP)
Sparse medial eyebrow  (IAGP)
Strabismus  (IAGP)
Thin eyebrow  (IAGP)
Thin upper lip vermilion  (IAGP)
Triangular face  (IAGP)
Underdeveloped tragus  (IAGP)
Upper eyelid edema  (IAGP)
Upper limb amyotrophy  (IAGP)
Vein of Galen aneurysmal malformation  (IAGP)
Ventricular septal defect  (IAGP)
Webbed neck  (IAGP)
Wide intermamillary distance  (IAGP)
Wide mouth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The leucine twenty homeobox (LEUTX) gene, which lacks a histone acetyltransferase domain, is fused to KAT6A in therapy-related acute myeloid leukemia with t(8;19)(p11;q13). Chinen Y, etal., Genes Chromosomes Cancer. 2014 Apr;53(4):299-308. doi: 10.1002/gcc.22140. Epub 2014 Jan 21.
2. MOZ-TIF2-induced acute myeloid leukemia requires the MOZ nucleosome binding motif and TIF2-mediated recruitment of CBP. Deguchi K, etal., Cancer Cell. 2003 Mar;3(3):259-71.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Histone acetyltransferase MOZ acts as a co-activator of Nrf2-MafK and induces tumour marker gene expression during hepatocarcinogenesis. Ohta K, etal., Biochem J. 2007 Mar 15;402(3):559-66.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. Physical and functional HAT/HDAC interplay regulates protein acetylation balance. Peserico A and Simone C, J Biomed Biotechnol. 2011;2011:371832. doi: 10.1155/2011/371832. Epub 2010 Dec 5.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. KAT6A, a chromatin modifier from the 8p11-p12 amplicon is a candidate oncogene in luminal breast cancer. Turner-Ivey B, etal., Neoplasia. 2014 Aug;16(8):644-55. doi: 10.1016/j.neo.2014.07.007.
11. MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome. Voss AK, etal., Dev Cell. 2012 Sep 11;23(3):652-63. doi: 10.1016/j.devcel.2012.07.010. Epub 2012 Aug 23.
Additional References at PubMed
PMID:7566098   PMID:8782817   PMID:8849440   PMID:9558366   PMID:10824998   PMID:11313971   PMID:11742995   PMID:11965546   PMID:12477932   PMID:12771199   PMID:14702039   PMID:15331439  
PMID:15342556   PMID:15657427   PMID:16096645   PMID:16344560   PMID:16387653   PMID:16613851   PMID:16702405   PMID:16713569   PMID:16916647   PMID:17081983   PMID:17182677   PMID:17296583  
PMID:17697320   PMID:17805331   PMID:17925393   PMID:18469222   PMID:18528428   PMID:18754862   PMID:18794358   PMID:18818702   PMID:18854154   PMID:19001415   PMID:19322201   PMID:19690564  
PMID:20581860   PMID:20800603   PMID:21873635   PMID:21880731   PMID:22713874   PMID:23022987   PMID:23063713   PMID:23347099   PMID:23431171   PMID:23994619   PMID:24150941   PMID:24258712  
PMID:24740910   PMID:24981860   PMID:25728775   PMID:25728777   PMID:25922517   PMID:26496610   PMID:26625199   PMID:26667788   PMID:27133397   PMID:27185879   PMID:27775714   PMID:27893709  
PMID:28514442   PMID:28611215   PMID:29021135   PMID:29507755   PMID:29899504   PMID:30021884   PMID:30245513   PMID:30622287   PMID:31753913   PMID:31863900   PMID:32041641   PMID:32519830  
PMID:32877461   PMID:33301849   PMID:33386251   PMID:33961781   PMID:33995658   PMID:34079125   PMID:34392614   PMID:34748993   PMID:34808502   PMID:34853079   PMID:34857952   PMID:35271311  
PMID:35332266   PMID:35748872   PMID:35892268   PMID:35976474   PMID:36089195   PMID:36456139   PMID:36537216   PMID:36543142   PMID:36754959   PMID:37861717  


Genomics

Comparative Map Data
KAT6A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38841,929,479 - 42,051,987 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl841,929,479 - 42,051,994 (-)EnsemblGRCh38hg38GRCh38
GRCh37841,786,997 - 41,909,505 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36841,906,154 - 42,028,662 (-)NCBINCBI36Build 36hg18NCBI36
Build 34841,907,425 - 42,028,635NCBI
Celera840,736,067 - 40,858,643 (-)NCBICelera
Cytogenetic Map8p11.21NCBI
HuRef840,314,984 - 40,434,974 (-)NCBIHuRef
CHM1_1841,835,431 - 41,957,801 (-)NCBICHM1_1
T2T-CHM13v2.0842,203,787 - 42,326,296 (-)NCBIT2T-CHM13v2.0
Kat6a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39823,349,458 - 23,433,275 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl823,349,551 - 23,433,275 (+)EnsemblGRCm39 Ensembl
GRCm38822,859,442 - 22,943,259 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl822,859,535 - 22,943,259 (+)EnsemblGRCm38mm10GRCm38
MGSCv37823,970,011 - 24,053,734 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36824,325,080 - 24,408,807 (+)NCBIMGSCv36mm8
Celera824,351,439 - 24,433,561 (+)NCBICelera
Cytogenetic Map8A2NCBI
cM Map811.42NCBI
Kat6a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81675,787,411 - 75,868,584 (-)NCBIGRCr8
mRatBN7.21669,084,914 - 69,165,923 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1669,084,914 - 69,163,606 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1674,358,565 - 74,437,271 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01677,790,634 - 77,869,724 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01673,039,779 - 73,118,865 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01673,942,669 - 74,020,750 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1673,943,455 - 74,023,005 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01673,575,194 - 73,655,378 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41673,553,868 - 73,634,794 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11673,556,791 - 73,632,511 (-)NCBI
Celera1666,978,642 - 67,057,326 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
Kat6a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955536900,198 - 1,015,520 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955536900,198 - 1,015,520 (+)NCBIChiLan1.0ChiLan1.0
KAT6A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2760,382,028 - 60,506,436 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1836,099,345 - 36,222,083 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0841,173,833 - 41,296,547 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1838,622,419 - 38,742,273 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl838,625,156 - 38,741,538 (-)Ensemblpanpan1.1panPan2
KAT6A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11623,604,629 - 23,717,047 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1623,604,200 - 23,724,252 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1624,108,113 - 24,221,865 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01625,351,804 - 25,466,743 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1625,351,846 - 25,464,076 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11623,722,919 - 23,836,884 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01624,284,506 - 24,398,604 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01624,335,164 - 24,449,218 (+)NCBIUU_Cfam_GSD_1.0
Kat6a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494346,646,353 - 46,748,108 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936785603,478 - 701,791 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936785602,754 - 704,504 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KAT6A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11711,002,818 - 11,109,974 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21712,485,672 - 12,536,507 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KAT6A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1839,912,120 - 40,035,776 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl839,911,776 - 39,962,735 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660521,751,940 - 1,875,909 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kat6a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247801,240,292 - 1,376,072 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247801,237,326 - 1,378,718 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KAT6A
1245 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006766.5(KAT6A):c.3353-3_3353dup duplication not provided [RCV000521584] Chr8:41934866..41934867 [GRCh38]
Chr8:41792384..41792385 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.5974G>C (p.Val1992Leu) single nucleotide variant not provided [RCV000521293] Chr8:41932246 [GRCh38]
Chr8:41789764 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1363+65T>C single nucleotide variant not provided [RCV001564574] Chr8:41976943 [GRCh38]
Chr8:41834461 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3353-1G>A single nucleotide variant See cases [RCV001420258]|not provided [RCV000521098] Chr8:41934868 [GRCh38]
Chr8:41792386 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21		 pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 copy number loss See cases [RCV000050745] Chr8:34312250..43158901 [GRCh38]
Chr8:34169768..43014044 [GRCh37]
Chr8:34289310..43133201 [NCBI36]
Chr8:8p12-11.21		 pathogenic
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 8p11.21(chr8:42037723-42900363)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052169]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052169]|See cases [RCV000052169] Chr8:42037723..42900363 [GRCh38]
Chr8:41895241..42755506 [GRCh37]
Chr8:42014398..42874663 [NCBI36]
Chr8:8p11.21		 uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3 copy number gain See cases [RCV000053648] Chr8:37899430..42371734 [GRCh38]
Chr8:37756948..42229252 [GRCh37]
Chr8:37876106..42348409 [NCBI36]
Chr8:8p11.23-11.21		 pathogenic
GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3 copy number gain See cases [RCV000053649] Chr8:39830633..49209461 [GRCh38]
Chr8:39688152..50122020 [GRCh37]
Chr8:39807309..50284573 [NCBI36]
Chr8:8p11.22-q11.21		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3 copy number gain See cases [RCV000053650] Chr8:39981424..43532444 [GRCh38]
Chr8:39838943..43387587 [GRCh37]
Chr8:39958100..43506744 [NCBI36]
Chr8:8p11.21-11.1		 pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41547961-48178799)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|See cases [RCV000053651] Chr8:41547961..48178799 [GRCh38]
Chr8:41405480..49091359 [GRCh37]
Chr8:41524637..49253912 [NCBI36]
Chr8:8p11.21-q11.21		 pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3 copy number gain See cases [RCV000053652] Chr8:41845699..47893948 [GRCh38]
Chr8:41703217..48806508 [GRCh37]
Chr8:41822374..48969061 [NCBI36]
Chr8:8p11.21-q11.21		 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-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
NM_006766.5(KAT6A):c.1456C>T (p.Arg486Cys) single nucleotide variant not provided [RCV002621547] Chr8:41974730 [GRCh38]
Chr8:41832248 [GRCh37]
Chr8:41951405 [NCBI36]
Chr8:8p11.21		 likely benign|not provided
NM_001099412.1(KAT6A):c.1069C>T (p.Arg357Ter) single nucleotide variant Malignant melanoma [RCV000061800] Chr8:41977302 [GRCh38]
Chr8:41834820 [GRCh37]
Chr8:41953977 [NCBI36]
Chr8:8p11.21		 not provided
NM_006766.5(KAT6A):c.2983G>A (p.Glu995Lys) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000662171]|Inborn genetic diseases [RCV002530594]|not provided [RCV002532025] Chr8:41940898 [GRCh38]
Chr8:41798416 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4658T>C (p.Leu1553Pro) single nucleotide variant not provided [RCV003223956] Chr8:41933562 [GRCh38]
Chr8:41791080 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser) single nucleotide variant Autism spectrum disorder [RCV001291382] Chr8:41955312 [GRCh38]
Chr8:41812830 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.5525C>G (p.Thr1842Arg) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000256187] Chr8:41932695 [GRCh38]
Chr8:41790213 [GRCh37]
Chr8:8p11.21		 pathogenic|likely benign
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002496984]|Inborn genetic diseases [RCV002311834]|not provided [RCV000514053]|not specified [RCV001821444] Chr8:41933896 [GRCh38]
Chr8:41791414 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.3614A>G (p.Gln1205Arg) single nucleotide variant not provided [RCV003221515] Chr8:41934606 [GRCh38]
Chr8:41792124 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 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 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
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 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
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 8p11.21-11.1(chr8:39960531-43673207)x3 copy number gain See cases [RCV000142663] Chr8:39960531..43673207 [GRCh38]
Chr8:39818050..43528350 [GRCh37]
Chr8:39937207..43647507 [NCBI36]
Chr8:8p11.21-11.1		 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 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) duplication Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000167548]|Syndromic intellectual disability [RCV000162316] Chr8:41934340..41934341 [GRCh38]
Chr8:41791858..41791859 [GRCh37]
Chr8:8p11.21		 pathogenic|not provided
NM_006766.5(KAT6A):c.3830_3831insTT (p.Arg1278fs) insertion KAT6A-related neurodevelopmental disorder with multiple anomalies [RCV003987376]|not provided [RCV000169644] Chr8:41934389..41934390 [GRCh38]
Chr8:41791907..41791908 [GRCh37]
Chr8:8p11.21		 uncertain significance|not provided
NM_006766.5(KAT6A):c.4292dup (p.Leu1431fs) duplication Inborn genetic diseases [RCV002326859]|not provided [RCV000169645] Chr8:41933927..41933928 [GRCh38]
Chr8:41791445..41791446 [GRCh37]
Chr8:8p11.21		 likely pathogenic|uncertain significance
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000167546]|Inborn genetic diseases [RCV000623870]|KAT6A syndrome [RCV000170450]|not provided [RCV001091600] Chr8:41934835 [GRCh38]
Chr8:41792353 [GRCh37]
Chr8:8p11.21		 pathogenic|not provided
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000167547]|KAT6A syndrome [RCV000170451]|not provided [RCV000578941] Chr8:41937538 [GRCh38]
Chr8:41795056 [GRCh37]
Chr8:8p11.21		 pathogenic|not provided
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000167549]|Inborn genetic diseases [RCV001267092]|Syndromic intellectual disability [RCV000170449] Chr8:41937491..41937492 [GRCh38]
Chr8:41795009..41795010 [GRCh37]
Chr8:8p11.21		 pathogenic|not provided
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000167550]|not provided [RCV000169643] Chr8:41934112 [GRCh38]
Chr8:41791630 [GRCh37]
Chr8:8p11.21		 pathogenic|uncertain significance|not provided
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002470835]|Craniosynostosis syndrome [RCV001849359]|not provided [RCV000269307] Chr8:41934559 [GRCh38]
Chr8:41792077 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
NM_006766.5(KAT6A):c.3553C>T (p.Gln1185Ter) single nucleotide variant not provided [RCV000385068] Chr8:41934667 [GRCh38]
Chr8:41792185 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3039+1del deletion not provided [RCV000519109] Chr8:41940841 [GRCh38]
Chr8:41798359 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.2694A>G (p.Gln898=) single nucleotide variant Inborn genetic diseases [RCV002312414]|not provided [RCV000973419] Chr8:41941187 [GRCh38]
Chr8:41798705 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4940AGC[5] (p.Gln1650dup) microsatellite Inborn genetic diseases [RCV002312741]|KAT6A-related condition [RCV003965475]|not provided [RCV001692268] Chr8:41933268..41933269 [GRCh38]
Chr8:41790786..41790787 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.3561C>T (p.Cys1187=) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002499306]|Inborn genetic diseases [RCV002312770]|KAT6A-related condition [RCV003953266]|not provided [RCV001655572] Chr8:41934659 [GRCh38]
Chr8:41792177 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.3412del (p.Glu1139fs) deletion not provided [RCV000519476] Chr8:41934808 [GRCh38]
Chr8:41792326 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000415399]|Intellectual disability [RCV001257636]|not provided [RCV000302843] Chr8:41934715 [GRCh38]
Chr8:41792233 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic|uncertain significance
NM_006766.5(KAT6A):c.5546_5555del (p.Met1849fs) deletion not provided [RCV000336515] Chr8:41932665..41932674 [GRCh38]
Chr8:41790183..41790192 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3182T>G (p.Leu1061Ter) single nucleotide variant not provided [RCV000392003] Chr8:41937426 [GRCh38]
Chr8:41794944 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3432dup (p.Pro1145fs) duplication not provided [RCV000402702] Chr8:41934787..41934788 [GRCh38]
Chr8:41792305..41792306 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1536dup (p.Glu513Ter) duplication not provided [RCV000402758] Chr8:41955357..41955358 [GRCh38]
Chr8:41812875..41812876 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000408607] Chr8:41933963..41933966 [GRCh38]
Chr8:41791481..41791484 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001270383] Chr8:41946679..41946680 [GRCh38]
Chr8:41804197..41804198 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.4592C>G (p.Pro1531Arg) single nucleotide variant not provided [RCV003239049] Chr8:41933628 [GRCh38]
Chr8:41791146 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003447148]|not provided [RCV000579331] Chr8:41937553 [GRCh38]
Chr8:41795071 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
NM_006766.5(KAT6A):c.2258T>C (p.Ile753Thr) single nucleotide variant not provided [RCV003238947] Chr8:41942971 [GRCh38]
Chr8:41800489 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4819C>T (p.Gln1607Ter) single nucleotide variant not provided [RCV000520373] Chr8:41933401 [GRCh38]
Chr8:41790919 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.2869G>C (p.Ala957Pro) single nucleotide variant not provided [RCV000584867] Chr8:41941012 [GRCh38]
Chr8:41798530 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001197825]|not provided [RCV000578637] Chr8:41978736 [GRCh38]
Chr8:41836254 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
NM_006766.5(KAT6A):c.5639C>A (p.Ser1880Ter) single nucleotide variant not provided [RCV000578959] Chr8:41932581 [GRCh38]
Chr8:41790099 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.296G>A (p.Trp99Ter) single nucleotide variant not provided [RCV000585140] Chr8:42048682 [GRCh38]
Chr8:41906200 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001007884]|Inborn genetic diseases [RCV002317379]|See cases [RCV003156106]|not provided [RCV000627631] Chr8:41933988..41933992 [GRCh38]
Chr8:41791506..41791510 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.2140AAG[1] (p.Lys715del) microsatellite not provided [RCV000599272] Chr8:41943831..41943833 [GRCh38]
Chr8:41801349..41801351 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1176del (p.Cys393fs) deletion not provided [RCV000599599] Chr8:41977195 [GRCh38]
Chr8:41834713 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1085_1089dup (p.Arg364fs) duplication not provided [RCV000523924] Chr8:41977281..41977282 [GRCh38]
Chr8:41834799..41834800 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met) single nucleotide variant not provided [RCV000730693] Chr8:41940855 [GRCh38]
Chr8:41798373 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.247C>T (p.Pro83Ser) single nucleotide variant not provided [RCV003736755]|not specified [RCV000413463] Chr8:42048731 [GRCh38]
Chr8:41906249 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4210dup (p.Glu1404fs) duplication not provided [RCV000413990] Chr8:41934009..41934010 [GRCh38]
Chr8:41791527..41791528 [GRCh37]
Chr8:8p11.21		 pathogenic
GRCh37/hg19 8p11.21-11.1(chr8:40690198-43388233)x3 copy number gain See cases [RCV000446823] Chr8:40690198..43388233 [GRCh37]
Chr8:8p11.21-11.1		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
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
NM_006766.5(KAT6A):c.571G>T (p.Val191Leu) single nucleotide variant not provided [RCV000432329] Chr8:42048407 [GRCh38]
Chr8:41905925 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.3982A>G (p.Lys1328Glu) single nucleotide variant Inborn genetic diseases [RCV002524715]|not provided [RCV000425570] Chr8:41934238 [GRCh38]
Chr8:41791756 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.2437-3C>G single nucleotide variant not provided [RCV000429955] Chr8:41941447 [GRCh38]
Chr8:41798965 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.4381C>T (p.Gln1461Ter) single nucleotide variant not provided [RCV000431658] Chr8:41933839 [GRCh38]
Chr8:41791357 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.5878A>C (p.Ser1960Arg) single nucleotide variant not provided [RCV000426098] Chr8:41932342 [GRCh38]
Chr8:41789860 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3742G>A (p.Glu1248Lys) single nucleotide variant not provided [RCV000439168] Chr8:41934478 [GRCh38]
Chr8:41791996 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3859GAG[2] (p.Glu1289del) microsatellite not provided [RCV000439426] Chr8:41934353..41934355 [GRCh38]
Chr8:41791871..41791873 [GRCh37]
Chr8:8p11.21		 benign|likely benign|conflicting interpretations of pathogenicity
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
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
NM_006766.5(KAT6A):c.4025del (p.Lys1342fs) deletion not provided [RCV000483068] Chr8:41934195 [GRCh38]
Chr8:41791713 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4361dup (p.Thr1455fs) duplication not provided [RCV000483243] Chr8:41933858..41933859 [GRCh38]
Chr8:41791376..41791377 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.458G>A (p.Arg153His) single nucleotide variant not provided [RCV000481330] Chr8:42048520 [GRCh38]
Chr8:41906038 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4399C>T (p.Gln1467Ter) single nucleotide variant not provided [RCV000485137] Chr8:41933821 [GRCh38]
Chr8:41791339 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001329629]|not provided [RCV000485166] Chr8:41978754 [GRCh38]
Chr8:41836272 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001809433]|not provided [RCV000485725] Chr8:41933575 [GRCh38]
Chr8:41791093 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile) single nucleotide variant Vein of Galen aneurysmal malformation [RCV001849388]|not provided [RCV000498011] Chr8:41974753 [GRCh38]
Chr8:41832271 [GRCh37]
Chr8:8p11.21		 association|uncertain significance
NM_006766.5(KAT6A):c.3212A>C (p.Glu1071Ala) single nucleotide variant not provided [RCV000493434] Chr8:41937396 [GRCh38]
Chr8:41794914 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.1280G>T (p.Arg427Leu) single nucleotide variant not provided [RCV000493759] Chr8:41977091 [GRCh38]
Chr8:41834609 [GRCh37]
Chr8:8p11.21		 likely pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
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
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val) single nucleotide variant Inborn genetic diseases [RCV002316460]|KAT6A-related condition [RCV003962418]|not provided [RCV000514297] Chr8:41932480 [GRCh38]
Chr8:41789998 [GRCh37]
Chr8:8p11.21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.2534G>A (p.Arg845His) single nucleotide variant Inborn genetic diseases [RCV003279708]|not provided [RCV003679182] Chr8:41941347 [GRCh38]
Chr8:41798865 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.3040-9_3040-8del deletion not provided [RCV000585393] Chr8:41937576..41937577 [GRCh38]
Chr8:41795094..41795095 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2459A>G (p.Glu820Gly) single nucleotide variant not provided [RCV000514512] Chr8:41941422 [GRCh38]
Chr8:41798940 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000988055]|Inborn genetic diseases [RCV002311829]|KAT6A-related condition [RCV003979915]|not provided [RCV000515019] Chr8:41933268 [GRCh38]
Chr8:41790786 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1342A>G (p.Ser448Gly) single nucleotide variant Inborn genetic diseases [RCV002315885]|not provided [RCV000594473] Chr8:41977029 [GRCh38]
Chr8:41834547 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.5812A>G (p.Ser1938Gly) single nucleotide variant Inborn genetic diseases [RCV003280769] Chr8:41932408 [GRCh38]
Chr8:41789926 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3782del (p.Pro1261fs) deletion not provided [RCV000627623] Chr8:41934438 [GRCh38]
Chr8:41791956 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3039+1G>T single nucleotide variant not provided [RCV000513536] Chr8:41940841 [GRCh38]
Chr8:41798359 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.3184G>T (p.Glu1062Ter) single nucleotide variant not provided [RCV000627312] Chr8:41937424 [GRCh38]
Chr8:41794942 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.5248_5257del (p.Ala1749_Thr1750insTer) deletion not provided [RCV000627399] Chr8:41932963..41932972 [GRCh38]
Chr8:41790481..41790490 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.3443del (p.Lys1148fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000677410] Chr8:41934777 [GRCh38]
Chr8:41792295 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3780del (p.Pro1261fs) deletion not provided [RCV000657518] Chr8:41934440 [GRCh38]
Chr8:41791958 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.5630G>A (p.Arg1877His) single nucleotide variant not provided [RCV000659103] Chr8:41932590 [GRCh38]
Chr8:41790108 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000677718] Chr8:41933531..41933532 [GRCh38]
Chr8:41791049..41791050 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000677719] Chr8:41934624 [GRCh38]
Chr8:41792142 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.5967T>C (p.Ala1989=) single nucleotide variant Inborn genetic diseases [RCV002314516]|not provided [RCV001637118] Chr8:41932253 [GRCh38]
Chr8:41789771 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.3321AGA[2] (p.Glu1109del) microsatellite Inborn genetic diseases [RCV002314447]|KAT6A-related condition [RCV003907990]|not provided [RCV000886175] Chr8:41937279..41937281 [GRCh38]
Chr8:41794797..41794799 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1185T>G (p.Asp395Glu) single nucleotide variant Inborn genetic diseases [RCV002314404]|Intellectual disability [RCV001251793]|KAT6A-related condition [RCV003918159]|not provided [RCV001672937] Chr8:41977186 [GRCh38]
Chr8:41834704 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.3192G>A (p.Thr1064=) single nucleotide variant Inborn genetic diseases [RCV002312305]|not provided [RCV001683633] Chr8:41937416 [GRCh38]
Chr8:41794934 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.401T>C (p.Leu134Ser) single nucleotide variant Inborn genetic diseases [RCV002312311]|not provided [RCV001683634] Chr8:42048577 [GRCh38]
Chr8:41906095 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4235A>G (p.Glu1412Gly) single nucleotide variant Inborn genetic diseases [RCV002312359] Chr8:41933985 [GRCh38]
Chr8:41791503 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2487A>G (p.Val829=) single nucleotide variant Inborn genetic diseases [RCV002312434]|not provided [RCV000968126]|not specified [RCV001816750] Chr8:41941394 [GRCh38]
Chr8:41798912 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4520G>T (p.Ser1507Ile) single nucleotide variant Inborn genetic diseases [RCV002316807] Chr8:41933700 [GRCh38]
Chr8:41791218 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5259A>G (p.Leu1753=) single nucleotide variant Inborn genetic diseases [RCV002316881]|not provided [RCV001615043] Chr8:41932961 [GRCh38]
Chr8:41790479 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.2760G>C (p.Leu920=) single nucleotide variant Inborn genetic diseases [RCV002316785]|KAT6A-related condition [RCV003953278]|not provided [RCV002534953] Chr8:41941121 [GRCh38]
Chr8:41798639 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.5019ACC[3] (p.Pro1675dup) microsatellite Inborn genetic diseases [RCV002316800]|not provided [RCV001550266] Chr8:41933195..41933196 [GRCh38]
Chr8:41790713..41790714 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1097G>A (p.Arg366Gln) single nucleotide variant Inborn genetic diseases [RCV002312738]|not provided [RCV003768123] Chr8:41977274 [GRCh38]
Chr8:41834792 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4146G>A (p.Thr1382=) single nucleotide variant Inborn genetic diseases [RCV002312785]|not provided [RCV001692269] Chr8:41934074 [GRCh38]
Chr8:41791592 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4953_4976del (p.Pro1652_Pro1659del) deletion Inborn genetic diseases [RCV002312800]|KAT6A-related condition [RCV003907987]|not provided [RCV001683639] Chr8:41933244..41933267 [GRCh38]
Chr8:41790762..41790785 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.2373A>C (p.Glu791Asp) single nucleotide variant Inborn genetic diseases [RCV002314378]|KAT6A-related condition [RCV003945743]|not provided [RCV001613441] Chr8:41942856 [GRCh38]
Chr8:41800374 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.2982G>A (p.Pro994=) single nucleotide variant Inborn genetic diseases [RCV002312308]|not provided [RCV001619824] Chr8:41940899 [GRCh38]
Chr8:41798417 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup) duplication History of neurodevelopmental disorder [RCV000715817]|Inborn genetic diseases [RCV002534532]|KAT6A-related condition [RCV003928189]|not provided [RCV001683636] Chr8:41933237..41933238 [GRCh38]
Chr8:41790755..41790756 [GRCh37]
Chr8:8p11.21		 benign|likely benign|uncertain significance
NM_006766.5(KAT6A):c.5526G>A (p.Thr1842=) single nucleotide variant Inborn genetic diseases [RCV002312736]|not provided [RCV001698672] Chr8:41932694 [GRCh38]
Chr8:41790212 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4503C>T (p.Asn1501=) single nucleotide variant Inborn genetic diseases [RCV002316014]|not provided [RCV003117518] Chr8:41933717 [GRCh38]
Chr8:41791235 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.5019A>G (p.Pro1673=) single nucleotide variant Inborn genetic diseases [RCV002312287] Chr8:41933201 [GRCh38]
Chr8:41790719 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4455C>T (p.Ser1485=) single nucleotide variant Inborn genetic diseases [RCV002312307]|not provided [RCV001595035] Chr8:41933765 [GRCh38]
Chr8:41791283 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3577G>A (p.Val1193Ile) single nucleotide variant Inborn genetic diseases [RCV002312342]|not provided [RCV000956605]|not specified [RCV001731904] Chr8:41934643 [GRCh38]
Chr8:41792161 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1477C>T (p.Leu493=) single nucleotide variant Inborn genetic diseases [RCV002314462]|not provided [RCV000909554] Chr8:41974709 [GRCh38]
Chr8:41832227 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4776GTC[1] (p.Ser1597del) microsatellite Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001337004]|Inborn genetic diseases [RCV002313465]|not provided [RCV002533016] Chr8:41933439..41933441 [GRCh38]
Chr8:41790957..41790959 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.4872C>G (p.Val1624=) single nucleotide variant Inborn genetic diseases [RCV002312399]|not provided [RCV001692267] Chr8:41933348 [GRCh38]
Chr8:41790866 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4914C>T (p.Cys1638=) single nucleotide variant Inborn genetic diseases [RCV002312437]|not provided [RCV001672931] Chr8:41933306 [GRCh38]
Chr8:41790824 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5379G>A (p.Gln1793=) single nucleotide variant Inborn genetic diseases [RCV002316124]|not provided [RCV000968625]|not specified [RCV001816759] Chr8:41932841 [GRCh38]
Chr8:41790359 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5913C>T (p.Asn1971=) single nucleotide variant Inborn genetic diseases [RCV002315331]|not provided [RCV000890735] Chr8:41932307 [GRCh38]
Chr8:41789825 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000988054]|Inborn genetic diseases [RCV002318702]|not provided [RCV001672942]|not specified [RCV000734463] Chr8:41933169..41933180 [GRCh38]
Chr8:41790687..41790698 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4611C>T (p.Ser1537=) single nucleotide variant Inborn genetic diseases [RCV002318706]|KAT6A-related condition [RCV003945756]|not provided [RCV001692278] Chr8:41933609 [GRCh38]
Chr8:41791127 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4767C>T (p.Tyr1589=) single nucleotide variant Inborn genetic diseases [RCV002315306]|KAT6A-related condition [RCV003938074]|not provided [RCV002534564] Chr8:41933453 [GRCh38]
Chr8:41790971 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.648A>G (p.Lys216=) single nucleotide variant Inborn genetic diseases [RCV002317955]|not provided [RCV001683646] Chr8:41987516 [GRCh38]
Chr8:41845034 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4988C>T (p.Pro1663Leu) single nucleotide variant Inborn genetic diseases [RCV002317992]|not provided [RCV002534580] Chr8:41933232 [GRCh38]
Chr8:41790750 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.2915G>C (p.Arg972Pro) single nucleotide variant Inborn genetic diseases [RCV002318684]|not provided [RCV002534932] Chr8:41940966 [GRCh38]
Chr8:41798484 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5994C>T (p.Asn1998=) single nucleotide variant Inborn genetic diseases [RCV002315275]|not provided [RCV000883923] Chr8:41932226 [GRCh38]
Chr8:41789744 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4768G>A (p.Gly1590Ser) single nucleotide variant Inborn genetic diseases [RCV002315347]|not provided [RCV002534567] Chr8:41933452 [GRCh38]
Chr8:41790970 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3855G>T (p.Gln1285His) single nucleotide variant Inborn genetic diseases [RCV002315393]|KAT6A-related condition [RCV003928205]|not provided [RCV001731908] Chr8:41934365 [GRCh38]
Chr8:41791883 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.1157G>A (p.Arg386Gln) single nucleotide variant Inborn genetic diseases [RCV002315443]|KAT6A-related condition [RCV003938079]|not provided [RCV001532618] Chr8:41977214 [GRCh38]
Chr8:41834732 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.3353-4A>G single nucleotide variant History of neurodevelopmental disorder [RCV000718535]|not provided [RCV002060924] Chr8:41934871 [GRCh38]
Chr8:41792389 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.4956A>G (p.Pro1652=) single nucleotide variant Inborn genetic diseases [RCV002318013]|not provided [RCV000886543] Chr8:41933264 [GRCh38]
Chr8:41790782 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.603G>A (p.Pro201=) single nucleotide variant Inborn genetic diseases [RCV002318112]|not provided [RCV001312173] Chr8:41987561 [GRCh38]
Chr8:41845079 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.3010A>G (p.Ile1004Val) single nucleotide variant Inborn genetic diseases [RCV002316742]|not provided [RCV001675959] Chr8:41940871 [GRCh38]
Chr8:41798389 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.5921G>A (p.Gly1974Glu) single nucleotide variant Inborn genetic diseases [RCV002318065] Chr8:41932299 [GRCh38]
Chr8:41789817 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1043T>G (p.Val348Gly) single nucleotide variant Inborn genetic diseases [RCV002318670]|not provided [RCV002534930] Chr8:41978642 [GRCh38]
Chr8:41836160 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1134A>G (p.Ser378=) single nucleotide variant Inborn genetic diseases [RCV002316754]|KAT6A-related condition [RCV003965491]|not provided [RCV001766583] Chr8:41977237 [GRCh38]
Chr8:41834755 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4210G>A (p.Glu1404Lys) single nucleotide variant Inborn genetic diseases [RCV002318774] Chr8:41934010 [GRCh38]
Chr8:41791528 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.442C>T (p.Arg148Ter) single nucleotide variant Inborn genetic diseases [RCV002316703] Chr8:42048536 [GRCh38]
Chr8:41906054 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3299C>G (p.Ser1100Cys) single nucleotide variant Inborn genetic diseases [RCV002316776]|not provided [RCV003432758] Chr8:41937309 [GRCh38]
Chr8:41794827 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000735235]|not provided [RCV002509527] Chr8:41980897 [GRCh38]
Chr8:41838415 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.5572C>T (p.Arg1858Cys) single nucleotide variant Inborn genetic diseases [RCV002348849]|Intellectual disability [RCV001251794]|not provided [RCV002570467] Chr8:41932648 [GRCh38]
Chr8:41790166 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.1662G>T (p.Gln554His) single nucleotide variant Intellectual disability [RCV001251795] Chr8:41949300 [GRCh38]
Chr8:41806818 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5027A>C (p.Gln1676Pro) single nucleotide variant Intellectual disability [RCV001251796] Chr8:41933193 [GRCh38]
Chr8:41790711 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4038del (p.Val1347fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000754643]|not provided [RCV001008898] Chr8:41934182 [GRCh38]
Chr8:41791700 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
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
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001706926]|not provided [RCV001786516] Chr8:41974781 [GRCh38]
Chr8:41832299 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.5241A>G (p.Pro1747=) single nucleotide variant Inborn genetic diseases [RCV002334642]|not provided [RCV001667464] Chr8:41932979 [GRCh38]
Chr8:41790497 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.2911C>T (p.Arg971Cys) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001542333]|Inborn genetic diseases [RCV002440782]|not provided [RCV002568945] Chr8:41940970 [GRCh38]
Chr8:41798488 [GRCh37]
Chr8:8p11.21		 benign|likely benign|uncertain significance
NM_006766.5(KAT6A):c.1903-5_1903-2del deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000853382] Chr8:41946686..41946689 [GRCh38]
Chr8:41804204..41804207 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3040-83A>G single nucleotide variant not provided [RCV001572589] Chr8:41937651 [GRCh38]
Chr8:41795169 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1598+263dup duplication not provided [RCV001534567] Chr8:41955023..41955024 [GRCh38]
Chr8:41812541..41812542 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.826-236_826-232del deletion not provided [RCV001567406] Chr8:41981159..41981163 [GRCh38]
Chr8:41838677..41838681 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1996+61_1996+62insTGTA insertion not provided [RCV001548265] Chr8:41946529..41946530 [GRCh38]
Chr8:41804047..41804048 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.-17A>G single nucleotide variant not provided [RCV001574569] Chr8:42048994 [GRCh38]
Chr8:41906512 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.752G>A (p.Arg251Gln) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001706862]|not provided [RCV003679069] Chr8:41981912 [GRCh38]
Chr8:41839430 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.805C>T (p.Arg269Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001784374]|not provided [RCV000760942] Chr8:41981859 [GRCh38]
Chr8:41839377 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.5097_5099dup (p.Pro1701_Leu1702insPro) duplication not provided [RCV003314156] Chr8:41933120..41933121 [GRCh38]
Chr8:41790638..41790639 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.907+1del deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000760212] Chr8:41980845 [GRCh38]
Chr8:41838363 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.2007del (p.Leu669fs) deletion not provided [RCV000762507] Chr8:41943969 [GRCh38]
Chr8:41801487 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.1997-6C>T single nucleotide variant not provided [RCV000762508] Chr8:41943985 [GRCh38]
Chr8:41801503 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1096C>T (p.Arg366Ter) single nucleotide variant not provided [RCV000760592] Chr8:41977275 [GRCh38]
Chr8:41834793 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002290008]|Inborn genetic diseases [RCV002533845]|not provided [RCV000760727] Chr8:41987506 [GRCh38]
Chr8:41845024 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
NM_006766.5(KAT6A):c.5554A>G (p.Lys1852Glu) single nucleotide variant not provided [RCV003314802] Chr8:41932666 [GRCh38]
Chr8:41790184 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5904G>A (p.Met1968Ile) single nucleotide variant not provided [RCV003314843] Chr8:41932316 [GRCh38]
Chr8:41789834 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3225T>C (p.Asp1075=) single nucleotide variant not provided [RCV001577161] Chr8:41937383 [GRCh38]
Chr8:41794901 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1996+50G>C single nucleotide variant not provided [RCV001546586] Chr8:41946541 [GRCh38]
Chr8:41804059 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4837_4854dup (p.Gly1613_Met1618dup) duplication not provided [RCV001574089] Chr8:41933365..41933366 [GRCh38]
Chr8:41790883..41790884 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5494A>G (p.Met1832Val) single nucleotide variant Inborn genetic diseases [RCV002568501]|KAT6A-related condition [RCV003956275]|not provided [RCV001577937] Chr8:41932726 [GRCh38]
Chr8:41790244 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2627A>C (p.Gln876Pro) single nucleotide variant Inborn genetic diseases [RCV002440834]|not provided [RCV001681094] Chr8:41941254 [GRCh38]
Chr8:41798772 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3040-9A>G single nucleotide variant not provided [RCV001583456] Chr8:41937577 [GRCh38]
Chr8:41795095 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1741-10A>G single nucleotide variant KAT6A-related condition [RCV003948335]|not provided [RCV000883152] Chr8:41947922 [GRCh38]
Chr8:41805440 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.2869G>T (p.Ala957Ser) single nucleotide variant not provided [RCV000906763] Chr8:41941012 [GRCh38]
Chr8:41798530 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3242C>G (p.Pro1081Arg) single nucleotide variant not provided [RCV000892099] Chr8:41937366 [GRCh38]
Chr8:41794884 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.5601G>T (p.Ala1867=) single nucleotide variant Inborn genetic diseases [RCV002346058]|not provided [RCV000892240] Chr8:41932619 [GRCh38]
Chr8:41790137 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1029G>T (p.Lys343Asn) single nucleotide variant Inborn genetic diseases [RCV002382053]|not provided [RCV000901148] Chr8:41978656 [GRCh38]
Chr8:41836174 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1996+8T>A single nucleotide variant not provided [RCV000905243] Chr8:41946583 [GRCh38]
Chr8:41804101 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2864C>T (p.Pro955Leu) single nucleotide variant not provided [RCV000882260] Chr8:41941017 [GRCh38]
Chr8:41798535 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1599-9C>T single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002488030]|not provided [RCV000949739] Chr8:41949372 [GRCh38]
Chr8:41806890 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1599-8G>A single nucleotide variant not provided [RCV000968127] Chr8:41949371 [GRCh38]
Chr8:41806889 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5549C>T (p.Pro1850Leu) single nucleotide variant not provided [RCV000969891] Chr8:41932671 [GRCh38]
Chr8:41790189 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1996+50GT[22] microsatellite not provided [RCV001571194] Chr8:41946494..41946497 [GRCh38]
Chr8:41804012..41804015 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs) insertion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000995788] Chr8:41937289..41937290 [GRCh38]
Chr8:41794807..41794808 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3306del (p.Lys1103fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000995789] Chr8:41937302 [GRCh38]
Chr8:41794820 [GRCh37]
Chr8:8p11.21		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000784983]|Inborn genetic diseases [RCV003372843]|not provided [RCV000898637] Chr8:41980860 [GRCh38]
Chr8:41838378 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000770753]|not provided [RCV003558568] Chr8:41946659 [GRCh38]
Chr8:41804177 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
NM_006766.5(KAT6A):c.5668G>A (p.Ala1890Thr) single nucleotide variant Inborn genetic diseases [RCV002346068]|Intellectual disability [RCV001251797]|not provided [RCV000900023] Chr8:41932552 [GRCh38]
Chr8:41790070 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4977_4985dup (p.Gln1660_Pro1662dup) duplication not provided [RCV000898442] Chr8:41933234..41933235 [GRCh38]
Chr8:41790752..41790753 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4779G>A (p.Ser1593=) single nucleotide variant not provided [RCV000895200] Chr8:41933441 [GRCh38]
Chr8:41790959 [GRCh37]
Chr8:8p11.21		 benign|likely benign
GRCh37/hg19 8p11.21(chr8:41761813-42107108)x1 copy number loss not provided [RCV000848394] Chr8:41761813..42107108 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.5560C>T (p.His1854Tyr) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000791034] Chr8:41932660 [GRCh38]
Chr8:41790178 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
NM_006766.5(KAT6A):c.4372_4373del (p.Ser1458fs) microsatellite not provided [RCV001008974] Chr8:41933847..41933848 [GRCh38]
Chr8:41791365..41791366 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.336G>C (p.Glu112Asp) single nucleotide variant KAT6A-related condition [RCV003921232]|not provided [RCV001571262] Chr8:42048642 [GRCh38]
Chr8:41906160 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.5566del (p.Ser1856fs) deletion not provided [RCV001009208] Chr8:41932654 [GRCh38]
Chr8:41790172 [GRCh37]
Chr8:8p11.21		 pathogenic
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
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001028031]|KAT6A syndrome [RCV001252011] Chr8:41943758 [GRCh38]
Chr8:41801276 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
NM_006766.5(KAT6A):c.107T>C (p.Val36Ala) single nucleotide variant not provided [RCV000999030] Chr8:42048871 [GRCh38]
Chr8:41906389 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV000988053]|not provided [RCV002462244] Chr8:41932444 [GRCh38]
Chr8:41789962 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.1044-180G>T single nucleotide variant not provided [RCV001571298] Chr8:41977507 [GRCh38]
Chr8:41835025 [GRCh37]
Chr8:8p11.21		 likely benign
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 copy number gain not provided [RCV000848822] Chr8:36094421..43822214 [GRCh37]
Chr8:8p12-11.1		 uncertain significance
NM_006766.5(KAT6A):c.510del (p.Asn170fs) deletion KAT6A-related neurodevelopmental disorder with multiple anomalies [RCV003313725] Chr8:42048468 [GRCh38]
Chr8:41905986 [GRCh37]
Chr8:8p11.21		 not provided
NM_006766.5(KAT6A):c.1473_1476dup (p.Leu493fs) duplication not provided [RCV001009210] Chr8:41974709..41974710 [GRCh38]
Chr8:41832227..41832228 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.5736T>G (p.Asn1912Lys) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001009547] Chr8:41932484 [GRCh38]
Chr8:41790002 [GRCh37]
Chr8:8p11.21		 not provided
NM_006766.5(KAT6A):c.4037del (p.Gly1346fs) deletion not provided [RCV001008267] Chr8:41934183 [GRCh38]
Chr8:41791701 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg) single nucleotide variant Autism spectrum disorder [RCV003127346] Chr8:41933546 [GRCh38]
Chr8:41791064 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003127348] Chr8:41981892 [GRCh38]
Chr8:41839410 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.5433G>A (p.Thr1811=) single nucleotide variant not provided [RCV003104378] Chr8:41932787 [GRCh38]
Chr8:41790305 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4708G>A (p.Asp1570Asn) single nucleotide variant not provided [RCV003231799] Chr8:41933512 [GRCh38]
Chr8:41791030 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2242C>T (p.Arg748Cys) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003234841] Chr8:41942987 [GRCh38]
Chr8:41800505 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1885G>A (p.Val629Ile) single nucleotide variant not provided [RCV003127120] Chr8:41947768 [GRCh38]
Chr8:41805286 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4444C>T (p.Pro1482Ser) single nucleotide variant not provided [RCV003230075] Chr8:41933776 [GRCh38]
Chr8:41791294 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1482+238dup duplication not provided [RCV001576637] Chr8:41974460..41974461 [GRCh38]
Chr8:41831978..41831979 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4188C>G (p.His1396Gln) single nucleotide variant Inborn genetic diseases [RCV003365429]|not provided [RCV001545526] Chr8:41934032 [GRCh38]
Chr8:41791550 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NC_000008.10:g.(?_41518984)_(42698237_?)dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV003107431] Chr8:41518984..42698237 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2517T>C (p.Ala839=) single nucleotide variant not provided [RCV001566860] Chr8:41941364 [GRCh38]
Chr8:41798882 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1996+94_1996+99del deletion not provided [RCV001552155] Chr8:41946492..41946497 [GRCh38]
Chr8:41804010..41804015 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1741-182A>C single nucleotide variant not provided [RCV001547895] Chr8:41948094 [GRCh38]
Chr8:41805612 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.6000T>G (p.Pro2000=) single nucleotide variant not provided [RCV003104377] Chr8:41932220 [GRCh38]
Chr8:41789738 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2226C>T (p.Asp742=) single nucleotide variant Inborn genetic diseases [RCV002425022]|KAT6A-related condition [RCV003910950]|not provided [RCV001670949] Chr8:41943750 [GRCh38]
Chr8:41801268 [GRCh37]
Chr8:8p11.21		 benign|likely benign|uncertain significance
NM_006766.5(KAT6A):c.5586G>A (p.Ala1862=) single nucleotide variant KAT6A-related condition [RCV003948618]|not provided [RCV001575795] Chr8:41932634 [GRCh38]
Chr8:41790152 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.2986A>G (p.Ser996Gly) single nucleotide variant Inborn genetic diseases [RCV003284374]|not provided [RCV001549840] Chr8:41940895 [GRCh38]
Chr8:41798413 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3392G>A (p.Arg1131His) single nucleotide variant Inborn genetic diseases [RCV002592508]|not provided [RCV001597351] Chr8:41934828 [GRCh38]
Chr8:41792346 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.5339A>G (p.Tyr1780Cys) single nucleotide variant not provided [RCV001590498] Chr8:41932881 [GRCh38]
Chr8:41790399 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.1740+294ATG[12] microsatellite not provided [RCV001713609] Chr8:41948901..41948902 [GRCh38]
Chr8:41806419..41806420 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1482+6G>A single nucleotide variant not provided [RCV001597979] Chr8:41974698 [GRCh38]
Chr8:41832216 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.5644G>A (p.Val1882Ile) single nucleotide variant not provided [RCV001545294] Chr8:41932576 [GRCh38]
Chr8:41790094 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1996+61_1996+62insTGTGTGTA microsatellite not provided [RCV001556694] Chr8:41946529..41946530 [GRCh38]
Chr8:41804047..41804048 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4182C>T (p.Asp1394=) single nucleotide variant not provided [RCV001556780] Chr8:41934038 [GRCh38]
Chr8:41791556 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1364-11T>C single nucleotide variant not provided [RCV001693872] Chr8:41974833 [GRCh38]
Chr8:41832351 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.2633G>A (p.Arg878His) single nucleotide variant Inborn genetic diseases [RCV002424983]|not provided [RCV001562471] Chr8:41941248 [GRCh38]
Chr8:41798766 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.3256C>T (p.Arg1086Cys) single nucleotide variant not provided [RCV001562697] Chr8:41937352 [GRCh38]
Chr8:41794870 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3833G>A (p.Arg1278His) single nucleotide variant Inborn genetic diseases [RCV002579482]|not provided [RCV001592348] Chr8:41934387 [GRCh38]
Chr8:41791905 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2437-267A>G single nucleotide variant not provided [RCV001558671] Chr8:41941711 [GRCh38]
Chr8:41799229 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3353-31C>A single nucleotide variant not provided [RCV001694868] Chr8:41934898 [GRCh38]
Chr8:41792416 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5597C>G (p.Ser1866Cys) single nucleotide variant Inborn genetic diseases [RCV002343800]|not provided [RCV001710618] Chr8:41932623 [GRCh38]
Chr8:41790141 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.825+53G>C single nucleotide variant not provided [RCV001587749] Chr8:41981786 [GRCh38]
Chr8:41839304 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3040-8T>C single nucleotide variant not provided [RCV001546925] Chr8:41937576 [GRCh38]
Chr8:41795094 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1996+278T>G single nucleotide variant not provided [RCV001590577] Chr8:41946313 [GRCh38]
Chr8:41803831 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2437-318T>C single nucleotide variant not provided [RCV001715398] Chr8:41941762 [GRCh38]
Chr8:41799280 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1996+90_1996+101del deletion not provided [RCV001552831] Chr8:41946490..41946501 [GRCh38]
Chr8:41804008..41804019 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.523A>G (p.Asn175Asp) single nucleotide variant not provided [RCV001653132] Chr8:42048455 [GRCh38]
Chr8:41905973 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5666G>A (p.Arg1889His) single nucleotide variant not provided [RCV000909725] Chr8:41932554 [GRCh38]
Chr8:41790072 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity
NM_006766.5(KAT6A):c.3660C>T (p.Pro1220=) single nucleotide variant not provided [RCV000905398] Chr8:41934560 [GRCh38]
Chr8:41792078 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5730T>C (p.Asn1910=) single nucleotide variant Inborn genetic diseases [RCV002346059]|not provided [RCV000892318] Chr8:41932490 [GRCh38]
Chr8:41790008 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1902+20G>A single nucleotide variant not provided [RCV001643773] Chr8:41947731 [GRCh38]
Chr8:41805249 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.96A>G (p.Ile32Met) single nucleotide variant not provided [RCV001206020] Chr8:42048882 [GRCh38]
Chr8:41906400 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.600+5G>T single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002501447]|Inborn genetic diseases [RCV002354722]|not provided [RCV000889197] Chr8:42048373 [GRCh38]
Chr8:41905891 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4962G>A (p.Pro1654=) single nucleotide variant not provided [RCV000956604] Chr8:41933258 [GRCh38]
Chr8:41790776 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4058A>G (p.Asp1353Gly) single nucleotide variant not provided [RCV000999029] Chr8:41934162 [GRCh38]
Chr8:41791680 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3915T>C (p.Ala1305=) single nucleotide variant not provided [RCV002681130] Chr8:41934305 [GRCh38]
Chr8:41791823 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4707C>T (p.Tyr1569=) single nucleotide variant not provided [RCV001660797] Chr8:41933513 [GRCh38]
Chr8:41791031 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4394A>G (p.Asp1465Gly) single nucleotide variant not provided [RCV001732253] Chr8:41933826 [GRCh38]
Chr8:41791344 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1102A>G (p.Ile368Val) single nucleotide variant not provided [RCV003229965] Chr8:41977269 [GRCh38]
Chr8:41834787 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.709+330A>C single nucleotide variant not provided [RCV001562738] Chr8:41987125 [GRCh38]
Chr8:41844643 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5185A>T (p.Ile1729Leu) single nucleotide variant Inborn genetic diseases [RCV002334606]|not provided [RCV001562753] Chr8:41933035 [GRCh38]
Chr8:41790553 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.1902+96T>G single nucleotide variant not provided [RCV001677414] Chr8:41947655 [GRCh38]
Chr8:41805173 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1996+50GT[25] microsatellite not provided [RCV001563455] Chr8:41946493..41946494 [GRCh38]
Chr8:41804011..41804012 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4722C>T (p.Gly1574=) single nucleotide variant not provided [RCV001563514] Chr8:41933498 [GRCh38]
Chr8:41791016 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.601-183C>T single nucleotide variant not provided [RCV001552370] Chr8:41987746 [GRCh38]
Chr8:41845264 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3039+30C>T single nucleotide variant not provided [RCV001570972] Chr8:41940812 [GRCh38]
Chr8:41798330 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.-192G>C single nucleotide variant not provided [RCV001558994] Chr8:42049169 [GRCh38]
Chr8:41906687 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1044-280C>T single nucleotide variant not provided [RCV001559011] Chr8:41977607 [GRCh38]
Chr8:41835125 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3576C>T (p.Ile1192=) single nucleotide variant Inborn genetic diseases [RCV002458560]|not provided [RCV001682028] Chr8:41934644 [GRCh38]
Chr8:41792162 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.3764C>G (p.Ala1255Gly) single nucleotide variant Inborn genetic diseases [RCV002343792]|KAT6A-related condition [RCV003948677]|not provided [RCV001693660] Chr8:41934456 [GRCh38]
Chr8:41791974 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.958C>G (p.Leu320Val) single nucleotide variant not provided [RCV001659009] Chr8:41978727 [GRCh38]
Chr8:41836245 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.3802C>T (p.Pro1268Ser) single nucleotide variant Inborn genetic diseases [RCV003161124]|not provided [RCV001573327] Chr8:41934418 [GRCh38]
Chr8:41791936 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3781C>T (p.Pro1261Ser) single nucleotide variant not provided [RCV002467063] Chr8:41934439 [GRCh38]
Chr8:41791957 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4150G>A (p.Val1384Met) single nucleotide variant not provided [RCV001561643] Chr8:41934070 [GRCh38]
Chr8:41791588 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity
NM_006766.5(KAT6A):c.3936C>T (p.Asp1312=) single nucleotide variant not provided [RCV001556277] Chr8:41934284 [GRCh38]
Chr8:41791802 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.710-215G>A single nucleotide variant not provided [RCV001556455] Chr8:41982169 [GRCh38]
Chr8:41839687 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3631_3632del (p.Thr1210_Val1211insTer) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002471751] Chr8:41934588..41934589 [GRCh38]
Chr8:41792106..41792107 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3820G>T (p.Glu1274Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002471979] Chr8:41934400 [GRCh38]
Chr8:41791918 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002466339] Chr8:41933553 [GRCh38]
Chr8:41791071 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.2843G>A (p.Arg948Gln) single nucleotide variant Intellectual disability [RCV001263263]|not provided [RCV002537649] Chr8:41941038 [GRCh38]
Chr8:41798556 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.4256_4260dup (p.Asp1421fs) duplication not provided [RCV001008448] Chr8:41933959..41933960 [GRCh38]
Chr8:41791477..41791478 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.-325-129A>G single nucleotide variant not provided [RCV001541060] Chr8:42049431 [GRCh38]
Chr8:41906949 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1996+94_1996+101del deletion not provided [RCV001674957] Chr8:41946490..41946497 [GRCh38]
Chr8:41804008..41804015 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1996+61_1996+62insTA insertion not provided [RCV001716292] Chr8:41946529..41946530 [GRCh38]
Chr8:41804047..41804048 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1740+294ATG[11] microsatellite not provided [RCV001677631] Chr8:41948901..41948902 [GRCh38]
Chr8:41806419..41806420 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1740+294ATG[8] microsatellite not provided [RCV001621240] Chr8:41948902..41948904 [GRCh38]
Chr8:41806420..41806422 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1043+233C>T single nucleotide variant not provided [RCV001659329] Chr8:41978409 [GRCh38]
Chr8:41835927 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5036C>T (p.Pro1679Leu) single nucleotide variant KAT6A-related condition [RCV003900833]|not provided [RCV001654772] Chr8:41933184 [GRCh38]
Chr8:41790702 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1903-206C>T single nucleotide variant not provided [RCV001587901] Chr8:41946890 [GRCh38]
Chr8:41804408 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3352+20C>T single nucleotide variant not provided [RCV001596066] Chr8:41937236 [GRCh38]
Chr8:41794754 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1010G>A (p.Arg337His) single nucleotide variant not provided [RCV001658869] Chr8:41978675 [GRCh38]
Chr8:41836193 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity
NM_006766.5(KAT6A):c.1996+62G>A single nucleotide variant not provided [RCV001687236] Chr8:41946529 [GRCh38]
Chr8:41804047 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4149C>T (p.Ser1383=) single nucleotide variant Inborn genetic diseases [RCV002329708]|not provided [RCV001686806] Chr8:41934071 [GRCh38]
Chr8:41791589 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.406G>A (p.Gly136Arg) single nucleotide variant not provided [RCV001596495] Chr8:42048572 [GRCh38]
Chr8:41906090 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3264G>T (p.Leu1088Phe) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003130541]|not provided [RCV001596555] Chr8:41937344 [GRCh38]
Chr8:41794862 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.4222G>A (p.Glu1408Lys) single nucleotide variant not provided [RCV001659011] Chr8:41933998 [GRCh38]
Chr8:41791516 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity
NM_006766.5(KAT6A):c.3039+158C>A single nucleotide variant not provided [RCV001694339] Chr8:41940684 [GRCh38]
Chr8:41798202 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5683C>T (p.Arg1895Cys) single nucleotide variant not provided [RCV001575186] Chr8:41932537 [GRCh38]
Chr8:41790055 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2672C>T (p.Thr891Met) single nucleotide variant Inborn genetic diseases [RCV002425027]|not provided [RCV001708030] Chr8:41941209 [GRCh38]
Chr8:41798727 [GRCh37]
Chr8:8p11.21		 benign|uncertain significance
NM_006766.5(KAT6A):c.2533C>T (p.Arg845Cys) single nucleotide variant Inborn genetic diseases [RCV002538592]|not provided [RCV001671935] Chr8:41941348 [GRCh38]
Chr8:41798866 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.600+283T>A single nucleotide variant not provided [RCV001708495] Chr8:42048095 [GRCh38]
Chr8:41905613 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1996+92_1996+101del deletion not provided [RCV001583189] Chr8:41946490..41946499 [GRCh38]
Chr8:41804008..41804017 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5601G>A (p.Ala1867=) single nucleotide variant Inborn genetic diseases [RCV002343758]|not provided [RCV001586650] Chr8:41932619 [GRCh38]
Chr8:41790137 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1996+48C>G single nucleotide variant not provided [RCV001533849] Chr8:41946543 [GRCh38]
Chr8:41804061 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1996+50GT[23] microsatellite not provided [RCV001585431] Chr8:41946494..41946495 [GRCh38]
Chr8:41804012..41804013 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1996+88_1996+99del deletion not provided [RCV001690364] Chr8:41946492..41946503 [GRCh38]
Chr8:41804010..41804021 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1996+100A>G single nucleotide variant not provided [RCV001690507] Chr8:41946491 [GRCh38]
Chr8:41804009 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4688A>T (p.Tyr1563Phe) single nucleotide variant not provided [RCV001091598] Chr8:41933532 [GRCh38]
Chr8:41791050 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3412C>T (p.Leu1138Phe) single nucleotide variant not provided [RCV001091599] Chr8:41934808 [GRCh38]
Chr8:41792326 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5645_5646delinsGCTGGCCGTA (p.Val1882fs) indel not provided [RCV001009215] Chr8:41932574..41932575 [GRCh38]
Chr8:41790092..41790093 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001264751] Chr8:41933275 [GRCh38]
Chr8:41790793 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002471059]|KAT6A syndrome [RCV001252012] Chr8:41940847 [GRCh38]
Chr8:41798365 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4666A>T (p.Ile1556Phe) single nucleotide variant KAT6A syndrome [RCV001252013] Chr8:41933554 [GRCh38]
Chr8:41791072 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001254181] Chr8:41933556 [GRCh38]
Chr8:41791074 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.766C>T (p.Arg256Trp) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001253702] Chr8:41981898 [GRCh38]
Chr8:41839416 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2710G>A (p.Glu904Lys) single nucleotide variant Intellectual disability [RCV001251792]|not provided [RCV002570466] Chr8:41941171 [GRCh38]
Chr8:41798689 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1663del (p.Gln555fs) deletion KAT6A syndrome [RCV001251798] Chr8:41949299 [GRCh38]
Chr8:41806817 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3395_3396del (p.Asp1132fs) deletion Inborn genetic diseases [RCV001265869] Chr8:41934824..41934825 [GRCh38]
Chr8:41792342..41792343 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.2127del (p.Lys709fs) deletion Inborn genetic diseases [RCV001266408] Chr8:41943849 [GRCh38]
Chr8:41801367 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3692del (p.Ala1231fs) deletion Inborn genetic diseases [RCV001266960] Chr8:41934528 [GRCh38]
Chr8:41792046 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4069C>T (p.Gln1357Ter) single nucleotide variant Intellectual disability [RCV001257638] Chr8:41934151 [GRCh38]
Chr8:41791669 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1139AAG[1] (p.Glu381del) microsatellite not provided [RCV002280534] Chr8:41977227..41977229 [GRCh38]
Chr8:41834745..41834747 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4841G>A (p.Ser1614Asn) single nucleotide variant Inborn genetic diseases [RCV002541394]|not provided [RCV001804188] Chr8:41933379 [GRCh38]
Chr8:41790897 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.2437-1G>A single nucleotide variant not provided [RCV001268040] Chr8:41941445 [GRCh38]
Chr8:41798963 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.1569C>A (p.Tyr523Ter) single nucleotide variant Intellectual disability [RCV001257634] Chr8:41955325 [GRCh38]
Chr8:41812843 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3703G>T (p.Glu1235Ter) single nucleotide variant Intellectual disability [RCV001257635] Chr8:41934517 [GRCh38]
Chr8:41792035 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1900A>T (p.Lys634Ter) single nucleotide variant Inborn genetic diseases [RCV001267052] Chr8:41947753 [GRCh38]
Chr8:41805271 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.601-3C>T single nucleotide variant not provided [RCV001312382] Chr8:41987566 [GRCh38]
Chr8:41845084 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5101C>T (p.Pro1701Ser) single nucleotide variant Neurodevelopmental abnormality [RCV001264721] Chr8:41933119 [GRCh38]
Chr8:41790637 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1465_1471del (p.Gln489fs) deletion not provided [RCV001268717] Chr8:41974715..41974721 [GRCh38]
Chr8:41832233..41832239 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3973G>T (p.Glu1325Ter) single nucleotide variant not provided [RCV001268908] Chr8:41934247 [GRCh38]
Chr8:41791765 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs) microsatellite Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001270418]|not provided [RCV003574870] Chr8:41933871..41933872 [GRCh38]
Chr8:41791389..41791390 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
NM_006766.5(KAT6A):c.3039+1G>A single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001265638] Chr8:41940841 [GRCh38]
Chr8:41798359 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3928C>T (p.Gln1310Ter) single nucleotide variant Inborn genetic diseases [RCV001265947] Chr8:41934292 [GRCh38]
Chr8:41791810 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4697C>G (p.Pro1566Arg) single nucleotide variant Inborn genetic diseases [RCV001266285] Chr8:41933523 [GRCh38]
Chr8:41791041 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1453T>C (p.Phe485Leu) single nucleotide variant not provided [RCV002284946] Chr8:41974733 [GRCh38]
Chr8:41832251 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3040-1G>T single nucleotide variant Inborn genetic diseases [RCV001266659] Chr8:41937569 [GRCh38]
Chr8:41795087 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.3286dup (p.Cys1096fs) duplication Inborn genetic diseases [RCV001266697] Chr8:41937321..41937322 [GRCh38]
Chr8:41794839..41794840 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1786_1787del (p.Leu596fs) deletion Intellectual disability [RCV001257639] Chr8:41947866..41947867 [GRCh38]
Chr8:41805384..41805385 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001262435] Chr8:41934150 [GRCh38]
Chr8:41791668 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.4960C>A (p.Pro1654Thr) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001329626] Chr8:41933260 [GRCh38]
Chr8:41790778 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.205A>C (p.Asn69His) single nucleotide variant not provided [RCV001280735] Chr8:42048773 [GRCh38]
Chr8:41906291 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5299C>G (p.His1767Asp) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001329628]|Inborn genetic diseases [RCV002350611]|not provided [RCV003708595] Chr8:41932921 [GRCh38]
Chr8:41790439 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2463del (p.Asn821fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001337002] Chr8:41941418 [GRCh38]
Chr8:41798936 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4420T>A (p.Cys1474Ser) single nucleotide variant not provided [RCV001312171] Chr8:41933800 [GRCh38]
Chr8:41791318 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2989C>T (p.Pro997Ser) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001329623] Chr8:41940892 [GRCh38]
Chr8:41798410 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1146_1147insG (p.Tyr383fs) insertion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001353351] Chr8:41977224..41977225 [GRCh38]
Chr8:41834742..41834743 [GRCh37]
Chr8:8p11.21		 pathogenic
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_006766.5(KAT6A):c.248C>G (p.Pro83Arg) single nucleotide variant not provided [RCV001786734] Chr8:42048730 [GRCh38]
Chr8:41906248 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4598T>C (p.Met1533Thr) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001337003]|not provided [RCV002546803] Chr8:41933622 [GRCh38]
Chr8:41791140 [GRCh37]
Chr8:8p11.21		 uncertain significance
NC_000008.10:g.(?_41905876)_(42188497_?)dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV001370515] Chr8:41905876..42188497 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5:c.3411del deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001398832] Chr8:8p11.21 pathogenic
NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001329621]|Inborn genetic diseases [RCV002546343]|not provided [RCV003770820] Chr8:41941090 [GRCh38]
Chr8:41798608 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.2947G>T (p.Gly983Cys) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001329622] Chr8:41940934 [GRCh38]
Chr8:41798452 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3778A>G (p.Ser1260Gly) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001329624]|not provided [RCV002546344] Chr8:41934442 [GRCh38]
Chr8:41791960 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.4445C>T (p.Pro1482Leu) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001329625] Chr8:41933775 [GRCh38]
Chr8:41791293 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5207C>T (p.Pro1736Leu) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001329627] Chr8:41933013 [GRCh38]
Chr8:41790531 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3440A>T (p.Lys1147Ile) single nucleotide variant KAT6A-related condition [RCV003946017]|not provided [RCV001664847]|not specified [RCV001355828] Chr8:41934780 [GRCh38]
Chr8:41792298 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.3485A>T (p.His1162Leu) single nucleotide variant KAT6A-related condition [RCV003405531]|not provided [RCV001312172] Chr8:41934735 [GRCh38]
Chr8:41792253 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5270A>G (p.Gln1757Arg) single nucleotide variant not provided [RCV001312170] Chr8:41932950 [GRCh38]
Chr8:41790468 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.826-58C>T single nucleotide variant not provided [RCV001540697] Chr8:41980985 [GRCh38]
Chr8:41838503 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4512C>T (p.Ala1504=) single nucleotide variant not provided [RCV001532616] Chr8:41933708 [GRCh38]
Chr8:41791226 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4085del (p.Lys1362fs) deletion not provided [RCV001532617] Chr8:41934135 [GRCh38]
Chr8:41791653 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.1445T>A (p.Met482Lys) single nucleotide variant Inborn genetic diseases [RCV002388579]|not provided [RCV001534298] Chr8:41974741 [GRCh38]
Chr8:41832259 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1364-9T>A single nucleotide variant not provided [RCV001681451] Chr8:41974831 [GRCh38]
Chr8:41832349 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1996+90_1996+99del deletion not provided [RCV001686135] Chr8:41946492..41946501 [GRCh38]
Chr8:41804010..41804019 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1740+294ATG[10] microsatellite not provided [RCV001670814] Chr8:41948901..41948902 [GRCh38]
Chr8:41806419..41806420 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1506del (p.Asp503fs) deletion Global developmental delay [RCV001526517]|Neurodevelopmental disorder [RCV003389072] Chr8:41955388 [GRCh38]
Chr8:41812906 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1902+268G>C single nucleotide variant not provided [RCV001615416] Chr8:41947483 [GRCh38]
Chr8:41805001 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1996+49T>C single nucleotide variant not provided [RCV001649115] Chr8:41946542 [GRCh38]
Chr8:41804060 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.*185C>G single nucleotide variant not provided [RCV001649535] Chr8:41932020 [GRCh38]
Chr8:41789538 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.-199T>A single nucleotide variant not provided [RCV001651811] Chr8:42049176 [GRCh38]
Chr8:41906694 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1996+98A>G single nucleotide variant not provided [RCV001686657] Chr8:41946493 [GRCh38]
Chr8:41804011 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1044-57A>G single nucleotide variant not provided [RCV001652490] Chr8:41977384 [GRCh38]
Chr8:41834902 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2501A>C (p.Lys834Thr) single nucleotide variant not specified [RCV002249074] Chr8:41941380 [GRCh38]
Chr8:41798898 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1119A>G (p.Gln373=) single nucleotide variant not provided [RCV003107044] Chr8:41977252 [GRCh38]
Chr8:41834770 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.710-14C>G single nucleotide variant not provided [RCV001732242] Chr8:41981968 [GRCh38]
Chr8:41839486 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4759T>G (p.Cys1587Gly) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002246194] Chr8:41933461 [GRCh38]
Chr8:41790979 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2422G>A (p.Glu808Lys) single nucleotide variant not provided [RCV001756767] Chr8:41942807 [GRCh38]
Chr8:41800325 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.68A>G (p.Gln23Arg) single nucleotide variant not provided [RCV001754940] Chr8:42048910 [GRCh38]
Chr8:41906428 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.-2C>T single nucleotide variant not provided [RCV002273412] Chr8:42048979 [GRCh38]
Chr8:41906497 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2004G>C (p.Leu668Phe) single nucleotide variant not provided [RCV001760767] Chr8:41943972 [GRCh38]
Chr8:41801490 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.795C>G (p.Cys265Trp) single nucleotide variant not specified [RCV002238622] Chr8:41981869 [GRCh38]
Chr8:41839387 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.758A>G (p.Lys253Arg) single nucleotide variant not provided [RCV002284956] Chr8:41981906 [GRCh38]
Chr8:41839424 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2965GAG[4] (p.Glu993del) microsatellite not provided [RCV001732934] Chr8:41940902..41940904 [GRCh38]
Chr8:41798420..41798422 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity
NM_006766.5(KAT6A):c.1065A>T (p.Lys355Asn) single nucleotide variant Inborn genetic diseases [RCV002539821]|not provided [RCV001733109] Chr8:41977306 [GRCh38]
Chr8:41834824 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.661G>A (p.Glu221Lys) single nucleotide variant See cases [RCV002253182]|not provided [RCV003774748] Chr8:41987503 [GRCh38]
Chr8:41845021 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.250A>G (p.Lys84Glu) single nucleotide variant not provided [RCV001756624] Chr8:42048728 [GRCh38]
Chr8:41906246 [GRCh37]
Chr8:8p11.21		 uncertain significance
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_006766.5(KAT6A):c.3187C>T (p.Pro1063Ser) single nucleotide variant not provided [RCV001772485] Chr8:41937421 [GRCh38]
Chr8:41794939 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2008T>C (p.Ser670Pro) single nucleotide variant not provided [RCV001767085] Chr8:41943968 [GRCh38]
Chr8:41801486 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4594A>T (p.Met1532Leu) single nucleotide variant Inborn genetic diseases [RCV002334667]|not provided [RCV001772746] Chr8:41933626 [GRCh38]
Chr8:41791144 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2366A>G (p.Glu789Gly) single nucleotide variant not provided [RCV001764950] Chr8:41942863 [GRCh38]
Chr8:41800381 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5966C>G (p.Ala1989Gly) single nucleotide variant not provided [RCV001770937] Chr8:41932254 [GRCh38]
Chr8:41789772 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4119C>T (p.Ser1373=) single nucleotide variant not provided [RCV001787613] Chr8:41934101 [GRCh38]
Chr8:41791619 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.5809C>T (p.His1937Tyr) single nucleotide variant not provided [RCV001767792] Chr8:41932411 [GRCh38]
Chr8:41789929 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4982C>T (p.Pro1661Leu) single nucleotide variant not provided [RCV001732710] Chr8:41933238 [GRCh38]
Chr8:41790756 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity
NM_006766.5(KAT6A):c.3032A>C (p.Lys1011Thr) single nucleotide variant not provided [RCV001767457] Chr8:41940849 [GRCh38]
Chr8:41798367 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5135C>T (p.Thr1712Ile) single nucleotide variant not provided [RCV001767525] Chr8:41933085 [GRCh38]
Chr8:41790603 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4752G>C (p.Gln1584His) single nucleotide variant not provided [RCV001769245] Chr8:41933468 [GRCh38]
Chr8:41790986 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2496A>G (p.Glu832=) single nucleotide variant not provided [RCV001769497] Chr8:41941385 [GRCh38]
Chr8:41798903 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5366C>G (p.Thr1789Arg) single nucleotide variant not provided [RCV001768578] Chr8:41932854 [GRCh38]
Chr8:41790372 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1212G>C (p.Lys404Asn) single nucleotide variant not provided [RCV001794707] Chr8:41977159 [GRCh38]
Chr8:41834677 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5817C>A (p.Asn1939Lys) single nucleotide variant not provided [RCV001757941] Chr8:41932403 [GRCh38]
Chr8:41789921 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5594C>T (p.Pro1865Leu) single nucleotide variant not provided [RCV001752688] Chr8:41932626 [GRCh38]
Chr8:41790144 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3670_3675del (p.Lys1224_Glu1225del) deletion not provided [RCV001753983] Chr8:41934545..41934550 [GRCh38]
Chr8:41792063..41792068 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3989A>G (p.Lys1330Arg) single nucleotide variant Inborn genetic diseases [RCV002370279]|not provided [RCV001766970] Chr8:41934231 [GRCh38]
Chr8:41791749 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2241C>A (p.Ile747=) single nucleotide variant not provided [RCV001779622] Chr8:41942988 [GRCh38]
Chr8:41800506 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.638T>A (p.Leu213His) single nucleotide variant not provided [RCV001761209] Chr8:41987526 [GRCh38]
Chr8:41845044 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4398_4399del (p.Gln1467fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001783498] Chr8:41933821..41933822 [GRCh38]
Chr8:41791339..41791340 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1312C>T (p.Arg438Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001784082] Chr8:41977059 [GRCh38]
Chr8:41834577 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.2135G>A (p.Ser712Asn) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001795620] Chr8:41943841 [GRCh38]
Chr8:41801359 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5701del (p.Val1901fs) deletion Neurodevelopmental disorder [RCV001780004] Chr8:41932519 [GRCh38]
Chr8:41790037 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.1599-10T>C single nucleotide variant not provided [RCV001799919] Chr8:41949373 [GRCh38]
Chr8:41806891 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4529C>T (p.Thr1510Ile) single nucleotide variant not provided [RCV001797411] Chr8:41933691 [GRCh38]
Chr8:41791209 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.4560C>T (p.Ser1520=) single nucleotide variant Inborn genetic diseases [RCV002334706]|not provided [RCV001816492] Chr8:41933660 [GRCh38]
Chr8:41791178 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4804A>G (p.Ser1602Gly) single nucleotide variant not provided [RCV001756705] Chr8:41933416 [GRCh38]
Chr8:41790934 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2505A>G (p.Pro835=) single nucleotide variant not provided [RCV001779649] Chr8:41941376 [GRCh38]
Chr8:41798894 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.824C>T (p.Ala275Val) single nucleotide variant not provided [RCV001758426] Chr8:41981840 [GRCh38]
Chr8:41839358 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs) microsatellite Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001814614] Chr8:41934298..41934299 [GRCh38]
Chr8:41791816..41791817 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.26A>G (p.Tyr9Cys) single nucleotide variant not provided [RCV001816493] Chr8:42048952 [GRCh38]
Chr8:41906470 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001814884] Chr8:41933359 [GRCh38]
Chr8:41790877 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.1369C>G (p.Gln457Glu) single nucleotide variant not provided [RCV001873848] Chr8:41974817 [GRCh38]
Chr8:41832335 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.254C>T (p.Pro85Leu) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001837226] Chr8:42048724 [GRCh38]
Chr8:41906242 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2696A>G (p.Tyr899Cys) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001839407]|not provided [RCV003546732] Chr8:41941185 [GRCh38]
Chr8:41798703 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.2153A>C (p.Lys718Thr) single nucleotide variant not provided [RCV001967880] Chr8:41943823 [GRCh38]
Chr8:41801341 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3002C>T (p.Ser1001Leu) single nucleotide variant not provided [RCV002022068] Chr8:41940879 [GRCh38]
Chr8:41798397 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2689G>C (p.Glu897Gln) single nucleotide variant KAT6A-related condition [RCV003976235]|not provided [RCV002543320]|not specified [RCV001844634] Chr8:41941192 [GRCh38]
Chr8:41798710 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.5585C>T (p.Ala1862Val) single nucleotide variant Inborn genetic diseases [RCV003170342]|not provided [RCV002021993] Chr8:41932635 [GRCh38]
Chr8:41790153 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.2806C>A (p.Pro936Thr) single nucleotide variant not provided [RCV001840921] Chr8:41941075 [GRCh38]
Chr8:41798593 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.1139A>C (p.Glu380Ala) single nucleotide variant not provided [RCV001944146] Chr8:41977232 [GRCh38]
Chr8:41834750 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.3230del (p.Asn1077fs) deletion not provided [RCV002034873] Chr8:41937378 [GRCh38]
Chr8:41794896 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3808G>T (p.Val1270Leu) single nucleotide variant not provided [RCV001993101] Chr8:41934412 [GRCh38]
Chr8:41791930 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.1882C>A (p.Leu628Ile) single nucleotide variant not provided [RCV002001038] Chr8:41947771 [GRCh38]
Chr8:41805289 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4870G>A (p.Val1624Ile) single nucleotide variant not provided [RCV002028442] Chr8:41933350 [GRCh38]
Chr8:41790868 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.3679G>A (p.Glu1227Lys) single nucleotide variant not provided [RCV001915689] Chr8:41934541 [GRCh38]
Chr8:41792059 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.5963A>G (p.Asn1988Ser) single nucleotide variant not provided [RCV002013625] Chr8:41932257 [GRCh38]
Chr8:41789775 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1658T>C (p.Leu553Pro) single nucleotide variant not provided [RCV001884447] Chr8:41949304 [GRCh38]
Chr8:41806822 [GRCh37]
Chr8:8p11.21		 likely pathogenic|uncertain significance
NM_006766.5(KAT6A):c.3131T>G (p.Val1044Gly) single nucleotide variant not provided [RCV001935314] Chr8:41937477 [GRCh38]
Chr8:41794995 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5722G>A (p.Ala1908Thr) single nucleotide variant not provided [RCV001904067] Chr8:41932498 [GRCh38]
Chr8:41790016 [GRCh37]
Chr8:8p11.21		 benign|uncertain significance
NM_006766.5(KAT6A):c.3077G>A (p.Arg1026His) single nucleotide variant not provided [RCV001917381] Chr8:41937531 [GRCh38]
Chr8:41795049 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.3553C>G (p.Gln1185Glu) single nucleotide variant not provided [RCV001878870] Chr8:41934667 [GRCh38]
Chr8:41792185 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.1445T>G (p.Met482Arg) single nucleotide variant not provided [RCV002211003] Chr8:41974741 [GRCh38]
Chr8:41832259 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5001_5012dup (p.Ala1669_Pro1672dup) duplication Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002225200] Chr8:41933207..41933208 [GRCh38]
Chr8:41790725..41790726 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4308C>T (p.Ser1436=) single nucleotide variant Inborn genetic diseases [RCV002331781]|not provided [RCV002110098] Chr8:41933912 [GRCh38]
Chr8:41791430 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2864C>G (p.Pro955Arg) single nucleotide variant not provided [RCV002209815] Chr8:41941017 [GRCh38]
Chr8:41798535 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3705G>A (p.Glu1235=) single nucleotide variant not provided [RCV002208333] Chr8:41934515 [GRCh38]
Chr8:41792033 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2444A>G (p.Lys815Arg) single nucleotide variant not provided [RCV002115932] Chr8:41941437 [GRCh38]
Chr8:41798955 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5643A>G (p.Ala1881=) single nucleotide variant not provided [RCV002215320] Chr8:41932577 [GRCh38]
Chr8:41790095 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5009C>A (p.Pro1670Gln) single nucleotide variant not provided [RCV002214473] Chr8:41933211 [GRCh38]
Chr8:41790729 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2436+2dup duplication not provided [RCV002207380] Chr8:41942790..41942791 [GRCh38]
Chr8:41800308..41800309 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1736T>G (p.Phe579Cys) single nucleotide variant not provided [RCV002214474] Chr8:41949226 [GRCh38]
Chr8:41806744 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3344A>C (p.Asp1115Ala) single nucleotide variant not provided [RCV002198304] Chr8:41937264 [GRCh38]
Chr8:41794782 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.709+12C>T single nucleotide variant not provided [RCV002178871] Chr8:41987443 [GRCh38]
Chr8:41844961 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3202G>A (p.Asp1068Asn) single nucleotide variant not provided [RCV002184350] Chr8:41937406 [GRCh38]
Chr8:41794924 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3740G>T (p.Ser1247Ile) single nucleotide variant not specified [RCV002223091] Chr8:41934480 [GRCh38]
Chr8:41791998 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5688C>T (p.Gly1896=) single nucleotide variant not provided [RCV002119994] Chr8:41932532 [GRCh38]
Chr8:41790050 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2842C>T (p.Arg948Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002222066] Chr8:41941039 [GRCh38]
Chr8:41798557 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NC_000008.10:g.(?_41518984)_(43054712_?)dup duplication Torsion dystonia 6 [RCV003116544]|not provided [RCV003109566] Chr8:41518984..43054712 [GRCh37]
Chr8:8p11.21		 uncertain significance|no classifications from unflagged records
NM_006766.5(KAT6A):c.4483C>T (p.Arg1495Cys) single nucleotide variant not provided [RCV003113092] Chr8:41933737 [GRCh38]
Chr8:41791255 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1043+10A>G single nucleotide variant not provided [RCV003115868] Chr8:41978632 [GRCh38]
Chr8:41836150 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3615G>A (p.Gln1205=) single nucleotide variant not provided [RCV003112029] Chr8:41934605 [GRCh38]
Chr8:41792123 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4633G>A (p.Val1545Met) single nucleotide variant not provided [RCV003112037] Chr8:41933587 [GRCh38]
Chr8:41791105 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.826-6T>C single nucleotide variant not provided [RCV003118402] Chr8:41980933 [GRCh38]
Chr8:41838451 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3612C>T (p.Ile1204=) single nucleotide variant not provided [RCV003121805] Chr8:41934608 [GRCh38]
Chr8:41792126 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3053A>T (p.His1018Leu) single nucleotide variant not specified [RCV003123464] Chr8:41937555 [GRCh38]
Chr8:41795073 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3856_3859del (p.Ser1286fs) deletion not provided [RCV003325383] Chr8:41934361..41934364 [GRCh38]
Chr8:41791879..41791882 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.799T>C (p.Ser267Pro) single nucleotide variant not provided [RCV003156480] Chr8:41981865 [GRCh38]
Chr8:41839383 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2266C>T (p.His756Tyr) single nucleotide variant not provided [RCV003156495] Chr8:41942963 [GRCh38]
Chr8:41800481 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1115G>T (p.Ser372Ile) single nucleotide variant not provided [RCV003149372] Chr8:41977256 [GRCh38]
Chr8:41834774 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2599C>T (p.Arg867Cys) single nucleotide variant See cases [RCV003128507]|not provided [RCV003778681] Chr8:41941282 [GRCh38]
Chr8:41798800 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.5120T>C (p.Met1707Thr) single nucleotide variant See cases [RCV002252447] Chr8:41933100 [GRCh38]
Chr8:41790618 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.502C>T (p.Arg168Trp) single nucleotide variant Inborn genetic diseases [RCV002337417]|not provided [RCV002259473] Chr8:42048476 [GRCh38]
Chr8:41905994 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.3348_3349dup (p.Asp1117fs) duplication not provided [RCV003129388] Chr8:41937258..41937259 [GRCh38]
Chr8:41794776..41794777 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.5210G>A (p.Gly1737Glu) single nucleotide variant not provided [RCV003156621] Chr8:41933010 [GRCh38]
Chr8:41790528 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4396C>T (p.Pro1466Ser) single nucleotide variant not provided [RCV003129494] Chr8:41933824 [GRCh38]
Chr8:41791342 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003148221] Chr8:41933990..41933991 [GRCh38]
Chr8:41791508..41791509 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.3782C>T (p.Pro1261Leu) single nucleotide variant See cases [RCV002253076] Chr8:41934438 [GRCh38]
Chr8:41791956 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.304C>G (p.Leu102Val) single nucleotide variant not provided [RCV002272105] Chr8:42048674 [GRCh38]
Chr8:41906192 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4859A>G (p.Gln1620Arg) single nucleotide variant not provided [RCV002286934] Chr8:41933361 [GRCh38]
Chr8:41790879 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.376A>T (p.Lys126Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002267794] Chr8:42048602 [GRCh38]
Chr8:41906120 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3414T>C (p.Leu1138=) single nucleotide variant Inborn genetic diseases [RCV002452182]|not provided [RCV003099465] Chr8:41934806 [GRCh38]
Chr8:41792324 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4625C>T (p.Ser1542Phe) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002291138] Chr8:41933595 [GRCh38]
Chr8:41791113 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3775A>G (p.Asn1259Asp) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002266734]|not provided [RCV003096048] Chr8:41934445 [GRCh38]
Chr8:41791963 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5287A>G (p.Ile1763Val) single nucleotide variant KAT6A syndrome [RCV002260573] Chr8:41932933 [GRCh38]
Chr8:41790451 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4273_4274del (p.Val1425fs) deletion not provided [RCV002273466] Chr8:41933946..41933947 [GRCh38]
Chr8:41791464..41791465 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1603C>T (p.Pro535Ser) single nucleotide variant not provided [RCV002267292] Chr8:41949359 [GRCh38]
Chr8:41806877 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.2498A>G (p.Lys833Arg) single nucleotide variant not provided [RCV002265183] Chr8:41941383 [GRCh38]
Chr8:41798901 [GRCh37]
Chr8:8p11.21		 uncertain significance
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_006766.5(KAT6A):c.4138C>T (p.His1380Tyr) single nucleotide variant not provided [RCV002291968] Chr8:41934082 [GRCh38]
Chr8:41791600 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.985C>T (p.Arg329Trp) single nucleotide variant not provided [RCV002281453] Chr8:41978700 [GRCh38]
Chr8:41836218 [GRCh37]
Chr8:8p11.21		 uncertain significance
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_006766.5(KAT6A):c.553C>G (p.Leu185Val) single nucleotide variant Inborn genetic diseases [RCV002351874]|not provided [RCV003096785] Chr8:42048425 [GRCh38]
Chr8:41905943 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3717T>A (p.Gly1239=) single nucleotide variant Inborn genetic diseases [RCV002349049]|not provided [RCV003102429] Chr8:41934503 [GRCh38]
Chr8:41792021 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4915G>A (p.Val1639Met) single nucleotide variant Inborn genetic diseases [RCV002351229]|not provided [RCV003102651] Chr8:41933305 [GRCh38]
Chr8:41790823 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1039_1040del (p.Thr347fs) microsatellite Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002289097] Chr8:41978645..41978646 [GRCh38]
Chr8:41836163..41836164 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.1283G>A (p.Gly428Glu) single nucleotide variant Inborn genetic diseases [RCV002387386] Chr8:41977088 [GRCh38]
Chr8:41834606 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3510A>C (p.Lys1170Asn) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003131299] Chr8:41934710 [GRCh38]
Chr8:41792228 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4768G>C (p.Gly1590Arg) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003131300] Chr8:41933452 [GRCh38]
Chr8:41790970 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.127G>A (p.Asp43Asn) single nucleotide variant Inborn genetic diseases [RCV003262190] Chr8:42048851 [GRCh38]
Chr8:41906369 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3399_3400dup (p.Lys1134fs) duplication Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002472071] Chr8:41934819..41934820 [GRCh38]
Chr8:41792337..41792338 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1862A>G (p.Asn621Ser) single nucleotide variant Inborn genetic diseases [RCV002414940] Chr8:41947791 [GRCh38]
Chr8:41805309 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5600C>G (p.Ala1867Gly) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002472244] Chr8:41932620 [GRCh38]
Chr8:41790138 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.524A>T (p.Asn175Ile) single nucleotide variant not provided [RCV002473991] Chr8:42048454 [GRCh38]
Chr8:41905972 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4882G>A (p.Ala1628Thr) single nucleotide variant Inborn genetic diseases [RCV003164514]|not provided [RCV002303792] Chr8:41933338 [GRCh38]
Chr8:41790856 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2021G>A (p.Gly674Asp) single nucleotide variant not provided [RCV002467064] Chr8:41943955 [GRCh38]
Chr8:41801473 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3377del (p.Ser1126fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002471756] Chr8:41934843 [GRCh38]
Chr8:41792361 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.2486T>C (p.Val829Ala) single nucleotide variant Inborn genetic diseases [RCV003250662]|not provided [RCV002967582] Chr8:41941395 [GRCh38]
Chr8:41798913 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1903G>A (p.Glu635Lys) single nucleotide variant not provided [RCV003152022] Chr8:41946684 [GRCh38]
Chr8:41804202 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5132T>G (p.Phe1711Cys) single nucleotide variant not provided [RCV002303316] Chr8:41933088 [GRCh38]
Chr8:41790606 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2203C>T (p.Arg735Ter) single nucleotide variant Inborn genetic diseases [RCV002425768] Chr8:41943773 [GRCh38]
Chr8:41801291 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.540G>C (p.Glu180Asp) single nucleotide variant not provided [RCV002303768] Chr8:42048438 [GRCh38]
Chr8:41905956 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2514G>T (p.Met838Ile) single nucleotide variant Inborn genetic diseases [RCV002432972] Chr8:41941367 [GRCh38]
Chr8:41798885 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.903A>G (p.Pro301=) single nucleotide variant Inborn genetic diseases [RCV002378449]|not provided [RCV003718568] Chr8:41980850 [GRCh38]
Chr8:41838368 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003131297]|not provided [RCV003679160] Chr8:42048385 [GRCh38]
Chr8:41905903 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2481T>C (p.Tyr827=) single nucleotide variant Inborn genetic diseases [RCV002430802]|not provided [RCV003775267] Chr8:41941400 [GRCh38]
Chr8:41798918 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1483A>G (p.Lys495Glu) single nucleotide variant Inborn genetic diseases [RCV002397189]|not provided [RCV003660950] Chr8:41955411 [GRCh38]
Chr8:41812929 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4742G>C (p.Ser1581Thr) single nucleotide variant not provided [RCV002304678] Chr8:41933478 [GRCh38]
Chr8:41790996 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3397G>A (p.Val1133Met) single nucleotide variant not provided [RCV002304938] Chr8:41934823 [GRCh38]
Chr8:41792341 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.20C>T (p.Pro7Leu) single nucleotide variant not provided [RCV002294783] Chr8:42048958 [GRCh38]
Chr8:41906476 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1899T>C (p.Ser633=) single nucleotide variant Inborn genetic diseases [RCV002408180]|not provided [RCV003097333] Chr8:41947754 [GRCh38]
Chr8:41805272 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.137C>G (p.Thr46Ser) single nucleotide variant not provided [RCV002305335] Chr8:42048841 [GRCh38]
Chr8:41906359 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3653C>T (p.Pro1218Leu) single nucleotide variant not provided [RCV002305378] Chr8:41934567 [GRCh38]
Chr8:41792085 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3837C>T (p.Val1279=) single nucleotide variant Inborn genetic diseases [RCV002364043]|KAT6A-related condition [RCV003971240]|not provided [RCV003094391] Chr8:41934383 [GRCh38]
Chr8:41791901 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.3736A>T (p.Ser1246Cys) single nucleotide variant Inborn genetic diseases [RCV002363766]|not provided [RCV003094336] Chr8:41934484 [GRCh38]
Chr8:41792002 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.3747_3758del (p.Ala1252_Ala1255del) deletion Inborn genetic diseases [RCV002363792]|not provided [RCV003094343] Chr8:41934462..41934473 [GRCh38]
Chr8:41791980..41791991 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.4586C>G (p.Thr1529Ser) single nucleotide variant not provided [RCV002301575] Chr8:41933634 [GRCh38]
Chr8:41791152 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4655A>C (p.Asp1552Ala) single nucleotide variant Inborn genetic diseases [RCV002330464] Chr8:41933565 [GRCh38]
Chr8:41791083 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1668C>T (p.His556=) single nucleotide variant Inborn genetic diseases [RCV002403931]|not provided [RCV003097089] Chr8:41949294 [GRCh38]
Chr8:41806812 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4139A>G (p.His1380Arg) single nucleotide variant not provided [RCV002306321] Chr8:41934081 [GRCh38]
Chr8:41791599 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.142T>G (p.Leu48Val) single nucleotide variant Inborn genetic diseases [RCV002392041] Chr8:42048836 [GRCh38]
Chr8:41906354 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2632C>T (p.Arg878Cys) single nucleotide variant Inborn genetic diseases [RCV002428567]|not provided [RCV003102050] Chr8:41941249 [GRCh38]
Chr8:41798767 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4979A>T (p.Gln1660Leu) single nucleotide variant not provided [RCV002300423] Chr8:41933241 [GRCh38]
Chr8:41790759 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.2818C>A (p.Leu940Ile) single nucleotide variant Inborn genetic diseases [RCV002441764]|not provided [RCV003102749] Chr8:41941063 [GRCh38]
Chr8:41798581 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4050T>G (p.Ser1350=) single nucleotide variant Inborn genetic diseases [RCV002321292] Chr8:41934170 [GRCh38]
Chr8:41791688 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.314G>A (p.Arg105Gln) single nucleotide variant Inborn genetic diseases [RCV002320804]|not provided [RCV003102314] Chr8:42048664 [GRCh38]
Chr8:41906182 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1735T>A (p.Phe579Ile) single nucleotide variant Inborn genetic diseases [RCV002399243] Chr8:41949227 [GRCh38]
Chr8:41806745 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5995G>A (p.Gly1999Arg) single nucleotide variant Inborn genetic diseases [RCV002357907]|not provided [RCV003574928] Chr8:41932225 [GRCh38]
Chr8:41789743 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.3271C>A (p.Gln1091Lys) single nucleotide variant Inborn genetic diseases [RCV002325006]|not provided [RCV003102347] Chr8:41937337 [GRCh38]
Chr8:41794855 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4795A>T (p.Thr1599Ser) single nucleotide variant Inborn genetic diseases [RCV002337830]|not provided [RCV003096467] Chr8:41933425 [GRCh38]
Chr8:41790943 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5763C>T (p.Ala1921=) single nucleotide variant Inborn genetic diseases [RCV002359608] Chr8:41932457 [GRCh38]
Chr8:41789975 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4242G>C (p.Glu1414Asp) single nucleotide variant Inborn genetic diseases [RCV002329789]|not provided [RCV003775843] Chr8:41933978 [GRCh38]
Chr8:41791496 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2764G>A (p.Ala922Thr) single nucleotide variant Inborn genetic diseases [RCV002439536]|not provided [RCV003775363] Chr8:41941117 [GRCh38]
Chr8:41798635 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.5984A>G (p.Gln1995Arg) single nucleotide variant Inborn genetic diseases [RCV002356161] Chr8:41932236 [GRCh38]
Chr8:41789754 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5211G>A (p.Gly1737=) single nucleotide variant Inborn genetic diseases [RCV002340784]|not provided [RCV003120934] Chr8:41933009 [GRCh38]
Chr8:41790527 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1547A>G (p.Lys516Arg) single nucleotide variant not provided [RCV002302144] Chr8:41955347 [GRCh38]
Chr8:41812865 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.121G>A (p.Gly41Ser) single nucleotide variant Inborn genetic diseases [RCV002353959] Chr8:42048857 [GRCh38]
Chr8:41906375 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5064G>A (p.Gln1688=) single nucleotide variant Inborn genetic diseases [RCV002335810]|not provided [RCV003730095] Chr8:41933156 [GRCh38]
Chr8:41790674 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.5693A>G (p.Asn1898Ser) single nucleotide variant Inborn genetic diseases [RCV002347493]|not provided [RCV003096842] Chr8:41932527 [GRCh38]
Chr8:41790045 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.659G>T (p.Arg220Leu) single nucleotide variant not provided [RCV002299878] Chr8:41987505 [GRCh38]
Chr8:41845023 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5208A>G (p.Pro1736=) single nucleotide variant Inborn genetic diseases [RCV002344258]|not provided [RCV003108030] Chr8:41933012 [GRCh38]
Chr8:41790530 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.451A>G (p.Ile151Val) single nucleotide variant not provided [RCV002308938] Chr8:42048527 [GRCh38]
Chr8:41906045 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3008C>T (p.Pro1003Leu) single nucleotide variant not provided [RCV002302922] Chr8:41940873 [GRCh38]
Chr8:41798391 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5940C>A (p.Gly1980=) single nucleotide variant Inborn genetic diseases [RCV002355929] Chr8:41932280 [GRCh38]
Chr8:41789798 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.971C>A (p.Ala324Glu) single nucleotide variant not provided [RCV002308861] Chr8:41978714 [GRCh38]
Chr8:41836232 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4958C>T (p.Pro1653Leu) single nucleotide variant not provided [RCV002295660] Chr8:41933262 [GRCh38]
Chr8:41790780 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4517A>G (p.Glu1506Gly) single nucleotide variant not provided [RCV002302945] Chr8:41933703 [GRCh38]
Chr8:41791221 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5596T>C (p.Ser1866Pro) single nucleotide variant Inborn genetic diseases [RCV002344842] Chr8:41932624 [GRCh38]
Chr8:41790142 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5791A>G (p.Met1931Val) single nucleotide variant Inborn genetic diseases [RCV002359776]|not provided [RCV003096874] Chr8:41932429 [GRCh38]
Chr8:41789947 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.5771G>A (p.Ser1924Asn) single nucleotide variant Inborn genetic diseases [RCV002359660] Chr8:41932449 [GRCh38]
Chr8:41789967 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1138_1139inv (p.Glu380Ser) inversion Inborn genetic diseases [RCV002326385]|KAT6A-related condition [RCV003926370]|not provided [RCV003698908] Chr8:41977232..41977233 [GRCh38]
Chr8:41834750..41834751 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.141T>G (p.Val47=) single nucleotide variant Inborn genetic diseases [RCV002391800]|not provided [RCV003095131] Chr8:42048837 [GRCh38]
Chr8:41906355 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.464T>C (p.Ile155Thr) single nucleotide variant Inborn genetic diseases [RCV002330451]|not provided [RCV003102611] Chr8:42048514 [GRCh38]
Chr8:41906032 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4953G>A (p.Pro1651=) single nucleotide variant Inborn genetic diseases [RCV002342745]|KAT6A-related condition [RCV003961007]|not provided [RCV003096541] Chr8:41933267 [GRCh38]
Chr8:41790785 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.4801A>G (p.Ser1601Gly) single nucleotide variant Inborn genetic diseases [RCV002337884]|not provided [RCV003730089] Chr8:41933419 [GRCh38]
Chr8:41790937 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5600C>T (p.Ala1867Val) single nucleotide variant Inborn genetic diseases [RCV002344905]|KAT6A-related condition [RCV003961010]|not provided [RCV003096807] Chr8:41932620 [GRCh38]
Chr8:41790138 [GRCh37]
Chr8:8p11.21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006766.5(KAT6A):c.4677C>T (p.Thr1559=) single nucleotide variant Inborn genetic diseases [RCV002335180]|not provided [RCV003775946] Chr8:41933543 [GRCh38]
Chr8:41791061 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1530T>C (p.Ser510=) single nucleotide variant not provided [RCV002991359] Chr8:41955364 [GRCh38]
Chr8:41812882 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4778C>T (p.Ser1593Leu) single nucleotide variant not provided [RCV002616742] Chr8:41933442 [GRCh38]
Chr8:41790960 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2155T>C (p.Leu719=) single nucleotide variant not provided [RCV002991388] Chr8:41943821 [GRCh38]
Chr8:41801339 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2676T>G (p.Ser892=) single nucleotide variant not provided [RCV002686068] Chr8:41941205 [GRCh38]
Chr8:41798723 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.825+6T>C single nucleotide variant not provided [RCV002750322] Chr8:41981833 [GRCh38]
Chr8:41839351 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3847_3864del (p.Gln1283_Glu1288del) deletion not provided [RCV002970628] Chr8:41934356..41934373 [GRCh38]
Chr8:41791874..41791891 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.837C>T (p.Leu279=) single nucleotide variant not provided [RCV002686124] Chr8:41980916 [GRCh38]
Chr8:41838434 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5223C>A (p.Ala1741=) single nucleotide variant not provided [RCV002902973] Chr8:41932997 [GRCh38]
Chr8:41790515 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2436+9A>G single nucleotide variant not provided [RCV002991597] Chr8:41942784 [GRCh38]
Chr8:41800302 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5843A>G (p.Gln1948Arg) single nucleotide variant not provided [RCV002681166] Chr8:41932377 [GRCh38]
Chr8:41789895 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2217C>G (p.Phe739Leu) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003130761]|not provided [RCV002771511] Chr8:41943759 [GRCh38]
Chr8:41801277 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.3389A>G (p.Lys1130Arg) single nucleotide variant not provided [RCV002839025] Chr8:41934831 [GRCh38]
Chr8:41792349 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3945C>T (p.Asp1315=) single nucleotide variant not provided [RCV002616685] Chr8:41934275 [GRCh38]
Chr8:41791793 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.602C>T (p.Pro201Leu) single nucleotide variant not provided [RCV002616699] Chr8:41987562 [GRCh38]
Chr8:41845080 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4118_4119delinsTT (p.Ser1373Phe) indel not provided [RCV002771580] Chr8:41934101..41934102 [GRCh38]
Chr8:41791619..41791620 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4638G>A (p.Val1546=) single nucleotide variant not provided [RCV002776424] Chr8:41933582 [GRCh38]
Chr8:41791100 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2370AGA[1] (p.Glu793del) microsatellite not provided [RCV002755494] Chr8:41942854..41942856 [GRCh38]
Chr8:41800372..41800374 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5395C>G (p.Pro1799Ala) single nucleotide variant Inborn genetic diseases [RCV003250665]|not provided [RCV002972054] Chr8:41932825 [GRCh38]
Chr8:41790343 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.3248A>G (p.Glu1083Gly) single nucleotide variant not provided [RCV002731381] Chr8:41937360 [GRCh38]
Chr8:41794878 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4380C>G (p.Thr1460=) single nucleotide variant not provided [RCV002972607] Chr8:41933840 [GRCh38]
Chr8:41791358 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4425T>C (p.His1475=) single nucleotide variant not provided [RCV002617934] Chr8:41933795 [GRCh38]
Chr8:41791313 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.932G>A (p.Arg311Gln) single nucleotide variant not provided [RCV002996859] Chr8:41978753 [GRCh38]
Chr8:41836271 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4124A>G (p.Glu1375Gly) single nucleotide variant not provided [RCV002858682] Chr8:41934096 [GRCh38]
Chr8:41791614 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1179C>T (p.Cys393=) single nucleotide variant not provided [RCV003017166] Chr8:41977192 [GRCh38]
Chr8:41834710 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2700A>T (p.Gly900=) single nucleotide variant not provided [RCV002730370] Chr8:41941181 [GRCh38]
Chr8:41798699 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.325G>T (p.Gly109Cys) single nucleotide variant not provided [RCV003033918] Chr8:42048653 [GRCh38]
Chr8:41906171 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.593A>G (p.Lys198Arg) single nucleotide variant not provided [RCV003074038] Chr8:42048385 [GRCh38]
Chr8:41905903 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1190A>G (p.Asn397Ser) single nucleotide variant not provided [RCV002617423] Chr8:41977181 [GRCh38]
Chr8:41834699 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.256C>T (p.Arg86Trp) single nucleotide variant Inborn genetic diseases [RCV002683772] Chr8:42048722 [GRCh38]
Chr8:41906240 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.123C>T (p.Gly41=) single nucleotide variant not provided [RCV002815833] Chr8:42048855 [GRCh38]
Chr8:41906373 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1009C>T (p.Arg337Cys) single nucleotide variant Inborn genetic diseases [RCV002682447] Chr8:41978676 [GRCh38]
Chr8:41836194 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2697T>C (p.Tyr899=) single nucleotide variant not provided [RCV003074604] Chr8:41941184 [GRCh38]
Chr8:41798702 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4561G>A (p.Ala1521Thr) single nucleotide variant not provided [RCV002971038] Chr8:41933659 [GRCh38]
Chr8:41791177 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1652C>G (p.Thr551Ser) single nucleotide variant Inborn genetic diseases [RCV002839946] Chr8:41949310 [GRCh38]
Chr8:41806828 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.939G>A (p.Arg313=) single nucleotide variant not provided [RCV003014645] Chr8:41978746 [GRCh38]
Chr8:41836264 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2911C>G (p.Arg971Gly) single nucleotide variant not provided [RCV003033600] Chr8:41940970 [GRCh38]
Chr8:41798488 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2872C>T (p.Leu958=) single nucleotide variant not provided [RCV002902971] Chr8:41941009 [GRCh38]
Chr8:41798527 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1938T>C (p.Cys646=) single nucleotide variant not provided [RCV002613462] Chr8:41946649 [GRCh38]
Chr8:41804167 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4443C>A (p.Ser1481Arg) single nucleotide variant Inborn genetic diseases [RCV002840742] Chr8:41933777 [GRCh38]
Chr8:41791295 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2803C>T (p.Leu935Phe) single nucleotide variant Inborn genetic diseases [RCV003250660]|not provided [RCV002967580] Chr8:41941078 [GRCh38]
Chr8:41798596 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1179C>G (p.Cys393Trp) single nucleotide variant not provided [RCV002904952] Chr8:41977192 [GRCh38]
Chr8:41834710 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5770A>G (p.Ser1924Gly) single nucleotide variant Inborn genetic diseases [RCV002818135] Chr8:41932450 [GRCh38]
Chr8:41789968 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.995C>G (p.Thr332Ser) single nucleotide variant not provided [RCV003034060] Chr8:41978690 [GRCh38]
Chr8:41836208 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3065G>C (p.Arg1022Thr) single nucleotide variant not provided [RCV002462455] Chr8:41937543 [GRCh38]
Chr8:41795061 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2569C>T (p.Pro857Ser) single nucleotide variant not provided [RCV002685529] Chr8:41941312 [GRCh38]
Chr8:41798830 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2660T>C (p.Leu887Pro) single nucleotide variant not provided [RCV003032819] Chr8:41941221 [GRCh38]
Chr8:41798739 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4106C>T (p.Thr1369Ile) single nucleotide variant not provided [RCV002842753] Chr8:41934114 [GRCh38]
Chr8:41791632 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2790C>G (p.Asp930Glu) single nucleotide variant Inborn genetic diseases [RCV003250661]|not provided [RCV002967581] Chr8:41941091 [GRCh38]
Chr8:41798609 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5020C>G (p.Pro1674Ala) single nucleotide variant Inborn genetic diseases [RCV003170843]|not provided [RCV002996211] Chr8:41933200 [GRCh38]
Chr8:41790718 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.2513T>C (p.Met838Thr) single nucleotide variant not provided [RCV002614509] Chr8:41941368 [GRCh38]
Chr8:41798886 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3834T>C (p.Arg1278=) single nucleotide variant not provided [RCV002842965] Chr8:41934386 [GRCh38]
Chr8:41791904 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2826G>T (p.Glu942Asp) single nucleotide variant not provided [RCV002975142] Chr8:41941055 [GRCh38]
Chr8:41798573 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2918A>G (p.Tyr973Cys) single nucleotide variant Inborn genetic diseases [RCV003170727]|not provided [RCV002975067] Chr8:41940963 [GRCh38]
Chr8:41798481 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3481A>G (p.Ile1161Val) single nucleotide variant not provided [RCV002755240] Chr8:41934739 [GRCh38]
Chr8:41792257 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4834A>T (p.Met1612Leu) single nucleotide variant not provided [RCV003033793] Chr8:41933386 [GRCh38]
Chr8:41790904 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5234C>G (p.Ser1745Cys) single nucleotide variant not provided [RCV002461875] Chr8:41932986 [GRCh38]
Chr8:41790504 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1681G>A (p.Gly561Ser) single nucleotide variant Inborn genetic diseases [RCV002902635] Chr8:41949281 [GRCh38]
Chr8:41806799 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3955G>A (p.Glu1319Lys) single nucleotide variant not provided [RCV002690805] Chr8:41934265 [GRCh38]
Chr8:41791783 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3846G>C (p.Glu1282Asp) single nucleotide variant not provided [RCV002786043] Chr8:41934374 [GRCh38]
Chr8:41791892 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2404C>T (p.Pro802Ser) single nucleotide variant not provided [RCV002695648] Chr8:41942825 [GRCh38]
Chr8:41800343 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.774G>A (p.Gln258=) single nucleotide variant not provided [RCV002796246] Chr8:41981890 [GRCh38]
Chr8:41839408 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5449G>A (p.Ala1817Thr) single nucleotide variant not provided [RCV002510131] Chr8:41932771 [GRCh38]
Chr8:41790289 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4223A>C (p.Glu1408Ala) single nucleotide variant Inborn genetic diseases [RCV002912067] Chr8:41933997 [GRCh38]
Chr8:41791515 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1997-19G>A single nucleotide variant not provided [RCV002705528] Chr8:41943998 [GRCh38]
Chr8:41801516 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.927A>G (p.Ile309Met) single nucleotide variant not provided [RCV002781373] Chr8:41978758 [GRCh38]
Chr8:41836276 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4107C>T (p.Thr1369=) single nucleotide variant KAT6A-related condition [RCV003898495]|not provided [RCV002740493] Chr8:41934113 [GRCh38]
Chr8:41791631 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.3824A>C (p.Glu1275Ala) single nucleotide variant not provided [RCV002636793] Chr8:41934396 [GRCh38]
Chr8:41791914 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.276T>G (p.Asp92Glu) single nucleotide variant not provided [RCV002847929] Chr8:42048702 [GRCh38]
Chr8:41906220 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2229-17C>A single nucleotide variant not provided [RCV002825595] Chr8:41943017 [GRCh38]
Chr8:41800535 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.503G>A (p.Arg168Gln) single nucleotide variant not provided [RCV002621613] Chr8:42048475 [GRCh38]
Chr8:41905993 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1688T>A (p.Phe563Tyr) single nucleotide variant Inborn genetic diseases [RCV002662566]|not provided [RCV002646277] Chr8:41949274 [GRCh38]
Chr8:41806792 [GRCh37]
Chr8:8p11.21		 benign|uncertain significance
NM_006766.5(KAT6A):c.830A>G (p.Asn277Ser) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003134466]|not provided [RCV002622911] Chr8:41980923 [GRCh38]
Chr8:41838441 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.3071G>A (p.Arg1024Gln) single nucleotide variant not provided [RCV003021775] Chr8:41937537 [GRCh38]
Chr8:41795055 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1740+9G>A single nucleotide variant not provided [RCV002638581] Chr8:41949213 [GRCh38]
Chr8:41806731 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2040G>T (p.Glu680Asp) single nucleotide variant not provided [RCV003021779] Chr8:41943936 [GRCh38]
Chr8:41801454 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1494G>A (p.Val498=) single nucleotide variant not provided [RCV002740512] Chr8:41955400 [GRCh38]
Chr8:41812918 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.747G>A (p.Thr249=) single nucleotide variant KAT6A-related condition [RCV003420366]|not provided [RCV002619684] Chr8:41981917 [GRCh38]
Chr8:41839435 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1847A>T (p.Tyr616Phe) single nucleotide variant not provided [RCV002824721] Chr8:41947806 [GRCh38]
Chr8:41805324 [GRCh37]
Chr8:8p11.21		 benign|uncertain significance
NM_006766.5(KAT6A):c.4593C>T (p.Pro1531=) single nucleotide variant not provided [RCV002621298] Chr8:41933627 [GRCh38]
Chr8:41791145 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4395C>A (p.Asp1465Glu) single nucleotide variant not provided [RCV002622943] Chr8:41933825 [GRCh38]
Chr8:41791343 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2790C>T (p.Asp930=) single nucleotide variant not provided [RCV002571963] Chr8:41941091 [GRCh38]
Chr8:41798609 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3716G>A (p.Gly1239Asp) single nucleotide variant not provided [RCV002590853] Chr8:41934504 [GRCh38]
Chr8:41792022 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2798C>G (p.Pro933Arg) single nucleotide variant not provided [RCV002690683] Chr8:41941083 [GRCh38]
Chr8:41798601 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.274G>A (p.Asp92Asn) single nucleotide variant not provided [RCV002735401] Chr8:42048704 [GRCh38]
Chr8:41906222 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5810A>G (p.His1937Arg) single nucleotide variant Inborn genetic diseases [RCV002910774] Chr8:41932410 [GRCh38]
Chr8:41789928 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4377C>T (p.Tyr1459=) single nucleotide variant not provided [RCV002847594] Chr8:41933843 [GRCh38]
Chr8:41791361 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3039+5C>G single nucleotide variant not provided [RCV002976254] Chr8:41940837 [GRCh38]
Chr8:41798355 [GRCh37]
Chr8:8p11.21		 benign|uncertain significance
NM_006766.5(KAT6A):c.4644C>T (p.Ser1548=) single nucleotide variant not provided [RCV002999334] Chr8:41933576 [GRCh38]
Chr8:41791094 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.318A>G (p.Ala106=) single nucleotide variant not provided [RCV002756949] Chr8:42048660 [GRCh38]
Chr8:41906178 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2761G>C (p.Val921Leu) single nucleotide variant not provided [RCV002658966] Chr8:41941120 [GRCh38]
Chr8:41798638 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1100A>G (p.Lys367Arg) single nucleotide variant not provided [RCV002760814] Chr8:41977271 [GRCh38]
Chr8:41834789 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4769G>T (p.Gly1590Val) single nucleotide variant not provided [RCV003053304] Chr8:41933451 [GRCh38]
Chr8:41790969 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1462A>G (p.Ile488Val) single nucleotide variant Inborn genetic diseases [RCV003161695]|not provided [RCV003079347] Chr8:41974724 [GRCh38]
Chr8:41832242 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3422A>T (p.Asp1141Val) single nucleotide variant not provided [RCV003054157] Chr8:41934798 [GRCh38]
Chr8:41792316 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5049G>A (p.Pro1683=) single nucleotide variant not provided [RCV002999259] Chr8:41933171 [GRCh38]
Chr8:41790689 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5545A>G (p.Met1849Val) single nucleotide variant not provided [RCV002760298] Chr8:41932675 [GRCh38]
Chr8:41790193 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5930T>C (p.Met1977Thr) single nucleotide variant not provided [RCV002621864] Chr8:41932290 [GRCh38]
Chr8:41789808 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3352+10A>G single nucleotide variant not provided [RCV002735617] Chr8:41937246 [GRCh38]
Chr8:41794764 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1070G>A (p.Arg357Gln) single nucleotide variant not provided [RCV002690900] Chr8:41977301 [GRCh38]
Chr8:41834819 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4036G>A (p.Gly1346Ser) single nucleotide variant not provided [RCV003077898] Chr8:41934184 [GRCh38]
Chr8:41791702 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2558A>G (p.His853Arg) single nucleotide variant not provided [RCV002658794] Chr8:41941323 [GRCh38]
Chr8:41798841 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.348A>T (p.Ser116=) single nucleotide variant not provided [RCV003020164] Chr8:42048630 [GRCh38]
Chr8:41906148 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4933A>G (p.Ser1645Gly) single nucleotide variant Inborn genetic diseases [RCV002845094] Chr8:41933287 [GRCh38]
Chr8:41790805 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1671G>A (p.Met557Ile) single nucleotide variant not provided [RCV003017817] Chr8:41949291 [GRCh38]
Chr8:41806809 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3530G>A (p.Arg1177Gln) single nucleotide variant not provided [RCV002590981] Chr8:41934690 [GRCh38]
Chr8:41792208 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3766G>A (p.Asp1256Asn) single nucleotide variant not provided [RCV003036906] Chr8:41934454 [GRCh38]
Chr8:41791972 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1346C>T (p.Thr449Ile) single nucleotide variant Inborn genetic diseases [RCV002912096] Chr8:41977025 [GRCh38]
Chr8:41834543 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2065C>G (p.Leu689Val) single nucleotide variant not provided [RCV003020341] Chr8:41943911 [GRCh38]
Chr8:41801429 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1902+14C>A single nucleotide variant not provided [RCV002909303] Chr8:41947737 [GRCh38]
Chr8:41805255 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2747G>A (p.Ser916Asn) single nucleotide variant not provided [RCV002820244] Chr8:41941134 [GRCh38]
Chr8:41798652 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1824C>T (p.Tyr608=) single nucleotide variant not provided [RCV002781014] Chr8:41947829 [GRCh38]
Chr8:41805347 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.294T>C (p.Asp98=) single nucleotide variant not provided [RCV002636730] Chr8:42048684 [GRCh38]
Chr8:41906202 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5997A>T (p.Gly1999=) single nucleotide variant not provided [RCV003035773] Chr8:41932223 [GRCh38]
Chr8:41789741 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4488G>A (p.Ser1496=) single nucleotide variant not provided [RCV003080331] Chr8:41933732 [GRCh38]
Chr8:41791250 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1114A>G (p.Ser372Gly) single nucleotide variant Inborn genetic diseases [RCV002658610]|not provided [RCV002675490] Chr8:41977257 [GRCh38]
Chr8:41834775 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.678A>G (p.Glu226=) single nucleotide variant not provided [RCV002639130] Chr8:41987486 [GRCh38]
Chr8:41845004 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5102C>T (p.Pro1701Leu) single nucleotide variant not provided [RCV002999676] Chr8:41933118 [GRCh38]
Chr8:41790636 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.525C>T (p.Asn175=) single nucleotide variant not provided [RCV002736071] Chr8:42048453 [GRCh38]
Chr8:41905971 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2124C>T (p.Asp708=) single nucleotide variant not provided [RCV002999415] Chr8:41943852 [GRCh38]
Chr8:41801370 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3206A>G (p.Glu1069Gly) single nucleotide variant not provided [RCV002953065] Chr8:41937402 [GRCh38]
Chr8:41794920 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3599G>A (p.Arg1200His) single nucleotide variant Inborn genetic diseases [RCV003170706]|not provided [RCV002948922] Chr8:41934621 [GRCh38]
Chr8:41792139 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1815C>T (p.Thr605=) single nucleotide variant not provided [RCV003053837] Chr8:41947838 [GRCh38]
Chr8:41805356 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3673GAG[3] (p.Glu1228del) microsatellite not provided [RCV003100372] Chr8:41934536..41934538 [GRCh38]
Chr8:41792054..41792056 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.907+12T>C single nucleotide variant not provided [RCV002797120] Chr8:41980834 [GRCh38]
Chr8:41838352 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3728A>G (p.Asp1243Gly) single nucleotide variant not provided [RCV002662484] Chr8:41934492 [GRCh38]
Chr8:41792010 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.749T>C (p.Val250Ala) single nucleotide variant not provided [RCV002999763] Chr8:41981915 [GRCh38]
Chr8:41839433 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.267A>G (p.Gly89=) single nucleotide variant not provided [RCV002870907] Chr8:42048711 [GRCh38]
Chr8:41906229 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.908-5dup duplication not provided [RCV002619937] Chr8:41978781..41978782 [GRCh38]
Chr8:41836299..41836300 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5979C>T (p.Pro1993=) single nucleotide variant not provided [RCV002706339] Chr8:41932241 [GRCh38]
Chr8:41789759 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.530A>G (p.Asp177Gly) single nucleotide variant not provided [RCV002706516] Chr8:42048448 [GRCh38]
Chr8:41905966 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3409C>T (p.Pro1137Ser) single nucleotide variant not provided [RCV002659082] Chr8:41934811 [GRCh38]
Chr8:41792329 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1903-12T>A single nucleotide variant not provided [RCV002639442] Chr8:41946696 [GRCh38]
Chr8:41804214 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.780C>T (p.Ile260=) single nucleotide variant not provided [RCV002756779] Chr8:41981884 [GRCh38]
Chr8:41839402 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5028_5039dup (p.Gln1684_Pro1685insGlnGlnProGln) duplication Inborn genetic diseases [RCV002758349] Chr8:41933180..41933181 [GRCh38]
Chr8:41790698..41790699 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5282_5283insT (p.Thr1762fs) insertion not provided [RCV003054210] Chr8:41932937..41932938 [GRCh38]
Chr8:41790455..41790456 [GRCh37]
Chr8:8p11.21		 pathogenic|uncertain significance
NM_006766.5(KAT6A):c.389A>G (p.Asp130Gly) single nucleotide variant Inborn genetic diseases [RCV002798260] Chr8:42048589 [GRCh38]
Chr8:41906107 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1741-14G>A single nucleotide variant not provided [RCV002570093] Chr8:41947926 [GRCh38]
Chr8:41805444 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.206A>G (p.Asn69Ser) single nucleotide variant not provided [RCV002622312] Chr8:42048772 [GRCh38]
Chr8:41906290 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1741-20del deletion not provided [RCV002695580] Chr8:41947932 [GRCh38]
Chr8:41805450 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3086A>G (p.His1029Arg) single nucleotide variant Inborn genetic diseases [RCV003078863]|not provided [RCV003078862] Chr8:41937522 [GRCh38]
Chr8:41795040 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity
NM_006766.5(KAT6A):c.553C>T (p.Leu185Phe) single nucleotide variant not provided [RCV002639510] Chr8:42048425 [GRCh38]
Chr8:41905943 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2993G>A (p.Arg998Gln) single nucleotide variant Inborn genetic diseases [RCV002926624]|not provided [RCV002886660] Chr8:41940888 [GRCh38]
Chr8:41798406 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1997-5T>G single nucleotide variant not provided [RCV002760862] Chr8:41943984 [GRCh38]
Chr8:41801502 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.502C>G (p.Arg168Gly) single nucleotide variant not provided [RCV002760867] Chr8:42048476 [GRCh38]
Chr8:41905994 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3270G>T (p.Ser1090=) single nucleotide variant not provided [RCV002639524] Chr8:41937338 [GRCh38]
Chr8:41794856 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4003C>T (p.Gln1335Ter) single nucleotide variant not provided [RCV002824137] Chr8:41934217 [GRCh38]
Chr8:41791735 [GRCh37]
Chr8:8p11.21		 pathogenic|uncertain significance
NM_006766.5(KAT6A):c.4724G>T (p.Gly1575Val) single nucleotide variant Inborn genetic diseases [RCV002870072] Chr8:41933496 [GRCh38]
Chr8:41791014 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1135T>C (p.Ser379Pro) single nucleotide variant Inborn genetic diseases [RCV002739044]|not provided [RCV003778610] Chr8:41977236 [GRCh38]
Chr8:41834754 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.600+3A>G single nucleotide variant not provided [RCV002621392] Chr8:42048375 [GRCh38]
Chr8:41905893 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2898T>G (p.Ser966Arg) single nucleotide variant not provided [RCV002659219] Chr8:41940983 [GRCh38]
Chr8:41798501 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.879T>C (p.Cys293=) single nucleotide variant not provided [RCV002870723] Chr8:41980874 [GRCh38]
Chr8:41838392 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3671A>G (p.Lys1224Arg) single nucleotide variant not provided [RCV002824577] Chr8:41934549 [GRCh38]
Chr8:41792067 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1108C>G (p.Leu370Val) single nucleotide variant not provided [RCV003002427] Chr8:41977263 [GRCh38]
Chr8:41834781 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5884G>A (p.Ala1962Thr) single nucleotide variant KAT6A-related condition [RCV003409897]|not provided [RCV002639458] Chr8:41932336 [GRCh38]
Chr8:41789854 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.139G>A (p.Val47Ile) single nucleotide variant not provided [RCV002785279] Chr8:42048839 [GRCh38]
Chr8:41906357 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5417C>T (p.Ala1806Val) single nucleotide variant not provided [RCV002756800] Chr8:41932803 [GRCh38]
Chr8:41790321 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4225T>C (p.Leu1409=) single nucleotide variant not provided [RCV002596018] Chr8:41933995 [GRCh38]
Chr8:41791513 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4353G>A (p.Ala1451=) single nucleotide variant not provided [RCV002575754] Chr8:41933867 [GRCh38]
Chr8:41791385 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4428G>A (p.Ala1476=) single nucleotide variant not provided [RCV003058673] Chr8:41933792 [GRCh38]
Chr8:41791310 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1307A>G (p.Gln436Arg) single nucleotide variant not provided [RCV002875631] Chr8:41977064 [GRCh38]
Chr8:41834582 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1009C>A (p.Arg337Ser) single nucleotide variant not provided [RCV003022429] Chr8:41978676 [GRCh38]
Chr8:41836194 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1044-4T>G single nucleotide variant not provided [RCV002643073] Chr8:41977331 [GRCh38]
Chr8:41834849 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4484G>A (p.Arg1495His) single nucleotide variant not provided [RCV003085298] Chr8:41933736 [GRCh38]
Chr8:41791254 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4985C>A (p.Pro1662Gln) single nucleotide variant not provided [RCV002957848] Chr8:41933235 [GRCh38]
Chr8:41790753 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5764A>G (p.Met1922Val) single nucleotide variant Inborn genetic diseases [RCV002830859]|not provided [RCV003111688] Chr8:41932456 [GRCh38]
Chr8:41789974 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5851A>G (p.Met1951Val) single nucleotide variant not provided [RCV002597344] Chr8:41932369 [GRCh38]
Chr8:41789887 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2535T>G (p.Arg845=) single nucleotide variant not provided [RCV002701437] Chr8:41941346 [GRCh38]
Chr8:41798864 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.896G>A (p.Arg299His) single nucleotide variant not provided [RCV002643191] Chr8:41980857 [GRCh38]
Chr8:41838375 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1598+15del deletion not provided [RCV002790552] Chr8:41955281 [GRCh38]
Chr8:41812799 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.907+20A>G single nucleotide variant not provided [RCV002791073] Chr8:41980826 [GRCh38]
Chr8:41838344 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4155G>A (p.Val1385=) single nucleotide variant not provided [RCV002626870] Chr8:41934065 [GRCh38]
Chr8:41791583 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3356C>G (p.Thr1119Ser) single nucleotide variant not provided [RCV003043204] Chr8:41934864 [GRCh38]
Chr8:41792382 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4845C>T (p.Ser1615=) single nucleotide variant not provided [RCV002711043] Chr8:41933375 [GRCh38]
Chr8:41790893 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4299A>G (p.Gln1433=) single nucleotide variant not provided [RCV002642844] Chr8:41933921 [GRCh38]
Chr8:41791439 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2980C>T (p.Pro994Ser) single nucleotide variant not provided [RCV002802136] Chr8:41940901 [GRCh38]
Chr8:41798419 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.147A>G (p.Glu49=) single nucleotide variant not provided [RCV002576235] Chr8:42048831 [GRCh38]
Chr8:41906349 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.601-4A>G single nucleotide variant Inborn genetic diseases [RCV002610667]|not provided [RCV002595980] Chr8:41987567 [GRCh38]
Chr8:41845085 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.826-5A>G single nucleotide variant not provided [RCV003008054] Chr8:41980932 [GRCh38]
Chr8:41838450 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4437T>C (p.His1479=) single nucleotide variant not provided [RCV002594050] Chr8:41933783 [GRCh38]
Chr8:41791301 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.24T>G (p.Leu8=) single nucleotide variant not provided [RCV003083100] Chr8:42048954 [GRCh38]
Chr8:41906472 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1060A>C (p.Ser354Arg) single nucleotide variant not provided [RCV002765921] Chr8:41977311 [GRCh38]
Chr8:41834829 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.87A>G (p.Glu29=) single nucleotide variant not provided [RCV002711259] Chr8:42048891 [GRCh38]
Chr8:41906409 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1751A>T (p.Asn584Ile) single nucleotide variant not provided [RCV003022414] Chr8:41947902 [GRCh38]
Chr8:41805420 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1065A>G (p.Lys355=) single nucleotide variant not provided [RCV002642471] Chr8:41977306 [GRCh38]
Chr8:41834824 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2025A>G (p.Gln675=) single nucleotide variant not provided [RCV002572850] Chr8:41943951 [GRCh38]
Chr8:41801469 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3589A>G (p.Lys1197Glu) single nucleotide variant not provided [RCV002802170] Chr8:41934631 [GRCh38]
Chr8:41792149 [GRCh37]
Chr8:8p11.21		 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
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
NM_006766.5(KAT6A):c.5123del (p.Asn1708fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV001808911] Chr8:41933097 [GRCh38]
Chr8:41790615 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.4949A>C (p.Gln1650Pro) single nucleotide variant not provided [RCV003238082] Chr8:41933271 [GRCh38]
Chr8:41790789 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV002272771]|not provided [RCV003325316] Chr8:41977238 [GRCh38]
Chr8:41834756 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
NM_006766.5(KAT6A):c.2604G>C (p.Trp868Cys) single nucleotide variant Inborn genetic diseases [RCV002426281]|not provided [RCV003102021] Chr8:41941277 [GRCh38]
Chr8:41798795 [GRCh37]
Chr8:8p11.21		 benign|uncertain significance
NM_006766.5(KAT6A):c.4412T>C (p.Val1471Ala) single nucleotide variant not provided [RCV002731462] Chr8:41933808 [GRCh38]
Chr8:41791326 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.6004A>G (p.Met2002Val) single nucleotide variant Inborn genetic diseases [RCV002771547]|KAT6A-related condition [RCV003973488]|not provided [RCV002806141] Chr8:41932216 [GRCh38]
Chr8:41789734 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4938_4940dup (p.Asn1646_Gln1647insHis) duplication not provided [RCV002614692] Chr8:41933279..41933280 [GRCh38]
Chr8:41790797..41790798 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.693C>T (p.Ala231=) single nucleotide variant not provided [RCV002638381] Chr8:41987471 [GRCh38]
Chr8:41844989 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.806G>A (p.Arg269Gln) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003134662]|Inborn genetic diseases [RCV002632352]|not provided [RCV002619603] Chr8:41981858 [GRCh38]
Chr8:41839376 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.1354T>G (p.Trp452Gly) single nucleotide variant not provided [RCV002658745] Chr8:41977017 [GRCh38]
Chr8:41834535 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.746C>T (p.Thr249Met) single nucleotide variant not provided [RCV002740960] Chr8:41981918 [GRCh38]
Chr8:41839436 [GRCh37]
Chr8:8p11.21		 benign|uncertain significance
NM_006766.5(KAT6A):c.4985C>T (p.Pro1662Leu) single nucleotide variant not provided [RCV003005317] Chr8:41933235 [GRCh38]
Chr8:41790753 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3203A>G (p.Asp1068Gly) single nucleotide variant not provided [RCV002666734] Chr8:41937405 [GRCh38]
Chr8:41794923 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5973C>T (p.Gly1991=) single nucleotide variant not provided [RCV002710580] Chr8:41932247 [GRCh38]
Chr8:41789765 [GRCh37]
Chr8:8p11.21		 benign|uncertain significance
NM_006766.5(KAT6A):c.569C>T (p.Pro190Leu) single nucleotide variant Inborn genetic diseases [RCV002827899] Chr8:42048409 [GRCh38]
Chr8:41905927 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3353-22_3353-19dup duplication not provided [RCV003057647] Chr8:41934885..41934886 [GRCh38]
Chr8:41792403..41792404 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3789C>T (p.Thr1263=) single nucleotide variant not provided [RCV002625170] Chr8:41934431 [GRCh38]
Chr8:41791949 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4251T>C (p.His1417=) single nucleotide variant not provided [RCV003084001] Chr8:41933969 [GRCh38]
Chr8:41791487 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2930A>G (p.Asp977Gly) single nucleotide variant not provided [RCV002572736] Chr8:41940951 [GRCh38]
Chr8:41798469 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4774C>T (p.Leu1592=) single nucleotide variant not provided [RCV002625538] Chr8:41933446 [GRCh38]
Chr8:41790964 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4188C>T (p.His1396=) single nucleotide variant not provided [RCV003006133] Chr8:41934032 [GRCh38]
Chr8:41791550 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1313G>A (p.Arg438Gln) single nucleotide variant not provided [RCV002828751] Chr8:41977058 [GRCh38]
Chr8:41834576 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3654C>A (p.Pro1218=) single nucleotide variant not provided [RCV002786289] Chr8:41934566 [GRCh38]
Chr8:41792084 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3474C>G (p.Arg1158=) single nucleotide variant not provided [RCV002593613] Chr8:41934746 [GRCh38]
Chr8:41792264 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3886CCAGAG[3] (p.Glu1299_Glu1300insProGlu) microsatellite not provided [RCV002890539] Chr8:41934322..41934323 [GRCh38]
Chr8:41791840..41791841 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5331G>T (p.Val1777=) single nucleotide variant not provided [RCV002643579] Chr8:41932889 [GRCh38]
Chr8:41790407 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4066A>G (p.Met1356Val) single nucleotide variant Inborn genetic diseases [RCV002916513] Chr8:41934154 [GRCh38]
Chr8:41791672 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1224G>A (p.Gly408=) single nucleotide variant not provided [RCV003025953] Chr8:41977147 [GRCh38]
Chr8:41834665 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1228A>G (p.Ile410Val) single nucleotide variant not provided [RCV002663576] Chr8:41977143 [GRCh38]
Chr8:41834661 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.545G>A (p.Cys182Tyr) single nucleotide variant Inborn genetic diseases [RCV003161935]|not provided [RCV002595971] Chr8:42048433 [GRCh38]
Chr8:41905951 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4837_4854del (p.Gly1613_Met1618del) deletion not provided [RCV002876251] Chr8:41933366..41933383 [GRCh38]
Chr8:41790884..41790901 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2202A>G (p.Leu734=) single nucleotide variant not provided [RCV003042000] Chr8:41943774 [GRCh38]
Chr8:41801292 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3495A>G (p.Lys1165=) single nucleotide variant not provided [RCV003025700] Chr8:41934725 [GRCh38]
Chr8:41792243 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4637T>C (p.Val1546Ala) single nucleotide variant not provided [RCV002663869] Chr8:41933583 [GRCh38]
Chr8:41791101 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.171T>C (p.Asp57=) single nucleotide variant not provided [RCV003082284] Chr8:42048807 [GRCh38]
Chr8:41906325 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2424A>G (p.Glu808=) single nucleotide variant not provided [RCV003041788] Chr8:41942805 [GRCh38]
Chr8:41800323 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3569A>C (p.Glu1190Ala) single nucleotide variant not provided [RCV002829587] Chr8:41934651 [GRCh38]
Chr8:41792169 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5595C>T (p.Pro1865=) single nucleotide variant not provided [RCV003023384] Chr8:41932625 [GRCh38]
Chr8:41790143 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4145C>T (p.Thr1382Met) single nucleotide variant not provided [RCV002625821] Chr8:41934075 [GRCh38]
Chr8:41791593 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.576C>T (p.Ser192=) single nucleotide variant not provided [RCV002700633] Chr8:42048402 [GRCh38]
Chr8:41905920 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2437-16del deletion not provided [RCV002575460] Chr8:41941460 [GRCh38]
Chr8:41798978 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4382A>G (p.Gln1461Arg) single nucleotide variant not provided [RCV002786146] Chr8:41933838 [GRCh38]
Chr8:41791356 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3576C>A (p.Ile1192=) single nucleotide variant not provided [RCV002572477] Chr8:41934644 [GRCh38]
Chr8:41792162 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.950G>A (p.Arg317Gln) single nucleotide variant not provided [RCV002593759] Chr8:41978735 [GRCh38]
Chr8:41836253 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3562G>A (p.Val1188Ile) single nucleotide variant not provided [RCV002595141] Chr8:41934658 [GRCh38]
Chr8:41792176 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5788C>T (p.Pro1930Ser) single nucleotide variant not provided [RCV002508565] Chr8:41932432 [GRCh38]
Chr8:41789950 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4671G>A (p.Glu1557=) single nucleotide variant not provided [RCV002711890] Chr8:41933549 [GRCh38]
Chr8:41791067 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4185C>T (p.Asp1395=) single nucleotide variant not provided [RCV002872757] Chr8:41934035 [GRCh38]
Chr8:41791553 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2397C>T (p.Asn799=) single nucleotide variant KAT6A-related condition [RCV003936526]|not provided [RCV003083462] Chr8:41942832 [GRCh38]
Chr8:41800350 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.744A>G (p.Leu248=) single nucleotide variant not provided [RCV003023753] Chr8:41981920 [GRCh38]
Chr8:41839438 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3767A>T (p.Asp1256Val) single nucleotide variant not provided [RCV003058360] Chr8:41934453 [GRCh38]
Chr8:41791971 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2612A>T (p.Lys871Met) single nucleotide variant not provided [RCV003022348] Chr8:41941269 [GRCh38]
Chr8:41798787 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2555C>G (p.Pro852Arg) single nucleotide variant not provided [RCV002626953] Chr8:41941326 [GRCh38]
Chr8:41798844 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.399A>G (p.Ala133=) single nucleotide variant not provided [RCV002954103] Chr8:42048579 [GRCh38]
Chr8:41906097 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4356G>A (p.Ala1452=) single nucleotide variant not provided [RCV002596519] Chr8:41933864 [GRCh38]
Chr8:41791382 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2062C>T (p.Arg688Cys) single nucleotide variant not provided [RCV003041752] Chr8:41943914 [GRCh38]
Chr8:41801432 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2941C>T (p.Leu981Phe) single nucleotide variant Inborn genetic diseases [RCV002915600]|not provided [RCV003777936] Chr8:41940940 [GRCh38]
Chr8:41798458 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2533C>G (p.Arg845Gly) single nucleotide variant not provided [RCV003025567] Chr8:41941348 [GRCh38]
Chr8:41798866 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5879G>A (p.Ser1960Asn) single nucleotide variant not provided [RCV002766611] Chr8:41932341 [GRCh38]
Chr8:41789859 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3862G>A (p.Glu1288Lys) single nucleotide variant not provided [RCV002958271] Chr8:41934358 [GRCh38]
Chr8:41791876 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.709+16C>T single nucleotide variant not provided [RCV003042846] Chr8:41987439 [GRCh38]
Chr8:41844957 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4249C>G (p.His1417Asp) single nucleotide variant not provided [RCV002593841] Chr8:41933971 [GRCh38]
Chr8:41791489 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2583G>A (p.Gln861=) single nucleotide variant not provided [RCV002574305] Chr8:41941298 [GRCh38]
Chr8:41798816 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4612G>A (p.Val1538Ile) single nucleotide variant not provided [RCV002710682] Chr8:41933608 [GRCh38]
Chr8:41791126 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3201C>T (p.Ile1067=) single nucleotide variant not provided [RCV002745312] Chr8:41937407 [GRCh38]
Chr8:41794925 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2113C>T (p.His705Tyr) single nucleotide variant not provided [RCV002700523] Chr8:41943863 [GRCh38]
Chr8:41801381 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2920A>G (p.Ser974Gly) single nucleotide variant not provided [RCV002633105] Chr8:41940961 [GRCh38]
Chr8:41798479 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2120A>G (p.Asn707Ser) single nucleotide variant not provided [RCV002600897] Chr8:41943856 [GRCh38]
Chr8:41801374 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2913T>C (p.Arg971=) single nucleotide variant not provided [RCV002632408] Chr8:41940968 [GRCh38]
Chr8:41798486 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3353-9C>G single nucleotide variant not provided [RCV002942006] Chr8:41934876 [GRCh38]
Chr8:41792394 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5577C>G (p.Ser1859=) single nucleotide variant not provided [RCV002899162] Chr8:41932643 [GRCh38]
Chr8:41790161 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4904C>T (p.Pro1635Leu) single nucleotide variant not provided [RCV002631799] Chr8:41933316 [GRCh38]
Chr8:41790834 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5023C>G (p.Pro1675Ala) single nucleotide variant not provided [RCV002811915] Chr8:41933197 [GRCh38]
Chr8:41790715 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4898A>G (p.Lys1633Arg) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003130728]|not provided [RCV002601963] Chr8:41933322 [GRCh38]
Chr8:41790840 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3285G>A (p.Arg1095=) single nucleotide variant not provided [RCV002675749] Chr8:41937323 [GRCh38]
Chr8:41794841 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1989C>T (p.Ile663=) single nucleotide variant not provided [RCV002582081] Chr8:41946598 [GRCh38]
Chr8:41804116 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3318T>A (p.Asp1106Glu) single nucleotide variant not provided [RCV003031767] Chr8:41937290 [GRCh38]
Chr8:41794808 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.924A>T (p.Gln308His) single nucleotide variant not provided [RCV003031097] Chr8:41978761 [GRCh38]
Chr8:41836279 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5474CTC[1] (p.Pro1826del) microsatellite not provided [RCV003031411] Chr8:41932741..41932743 [GRCh38]
Chr8:41790259..41790261 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.520A>G (p.Thr174Ala) single nucleotide variant not provided [RCV002962505] Chr8:42048458 [GRCh38]
Chr8:41905976 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3819A>G (p.Glu1273=) single nucleotide variant not provided [RCV003091406] Chr8:41934401 [GRCh38]
Chr8:41791919 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5224G>A (p.Gly1742Ser) single nucleotide variant Inborn genetic diseases [RCV002582148]|not provided [RCV002602495] Chr8:41932996 [GRCh38]
Chr8:41790514 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1125A>C (p.Ala375=) single nucleotide variant not provided [RCV003027269] Chr8:41977246 [GRCh38]
Chr8:41834764 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3599G>C (p.Arg1200Pro) single nucleotide variant not provided [RCV002597923] Chr8:41934621 [GRCh38]
Chr8:41792139 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.600+17C>T single nucleotide variant not provided [RCV002631425] Chr8:42048361 [GRCh38]
Chr8:41905879 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1326G>A (p.Arg442=) single nucleotide variant not provided [RCV002966864] Chr8:41977045 [GRCh38]
Chr8:41834563 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1040C>T (p.Thr347Met) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003134653]|not provided [RCV002581677] Chr8:41978645 [GRCh38]
Chr8:41836163 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.4108G>A (p.Glu1370Lys) single nucleotide variant not provided [RCV002962477] Chr8:41934112 [GRCh38]
Chr8:41791630 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3035G>A (p.Arg1012Gln) single nucleotide variant not provided [RCV002715563] Chr8:41940846 [GRCh38]
Chr8:41798364 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1722T>C (p.Asn574=) single nucleotide variant not provided [RCV002579359] Chr8:41949240 [GRCh38]
Chr8:41806758 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2384A>C (p.Glu795Ala) single nucleotide variant not provided [RCV003044126] Chr8:41942845 [GRCh38]
Chr8:41800363 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1512A>G (p.Pro504=) single nucleotide variant not provided [RCV002598734] Chr8:41955382 [GRCh38]
Chr8:41812900 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1721A>G (p.Asn574Ser) single nucleotide variant not provided [RCV002962115] Chr8:41949241 [GRCh38]
Chr8:41806759 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.413G>A (p.Ser138Asn) single nucleotide variant not provided [RCV002579395] Chr8:42048565 [GRCh38]
Chr8:41906083 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1600C>T (p.Leu534=) single nucleotide variant not provided [RCV002716527] Chr8:41949362 [GRCh38]
Chr8:41806880 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4775T>A (p.Leu1592Gln) single nucleotide variant Inborn genetic diseases [RCV002792416] Chr8:41933445 [GRCh38]
Chr8:41790963 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1043+14G>T single nucleotide variant not provided [RCV003028086] Chr8:41978628 [GRCh38]
Chr8:41836146 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5383G>A (p.Ala1795Thr) single nucleotide variant Inborn genetic diseases [RCV003348864]|not provided [RCV002597838] Chr8:41932837 [GRCh38]
Chr8:41790355 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3809T>G (p.Val1270Gly) single nucleotide variant not provided [RCV002628614] Chr8:41934411 [GRCh38]
Chr8:41791929 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3525G>T (p.Leu1175Phe) single nucleotide variant not provided [RCV002716866] Chr8:41934695 [GRCh38]
Chr8:41792213 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3754G>C (p.Ala1252Pro) single nucleotide variant not provided [RCV002770321] Chr8:41934466 [GRCh38]
Chr8:41791984 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4510G>A (p.Ala1504Thr) single nucleotide variant not provided [RCV003026295] Chr8:41933710 [GRCh38]
Chr8:41791228 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1657C>T (p.Leu553=) single nucleotide variant not provided [RCV002720210] Chr8:41949305 [GRCh38]
Chr8:41806823 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2914C>T (p.Arg972Cys) single nucleotide variant KAT6A-related condition [RCV003427564]|not provided [RCV003087683] Chr8:41940967 [GRCh38]
Chr8:41798485 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.1740+6G>A single nucleotide variant not provided [RCV002899094] Chr8:41949216 [GRCh38]
Chr8:41806734 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5330T>C (p.Val1777Ala) single nucleotide variant Inborn genetic diseases [RCV003011107]|not provided [RCV003011108] Chr8:41932890 [GRCh38]
Chr8:41790408 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3798G>A (p.Lys1266=) single nucleotide variant not provided [RCV003027086] Chr8:41934422 [GRCh38]
Chr8:41791940 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1902+19A>G single nucleotide variant not provided [RCV003027629] Chr8:41947732 [GRCh38]
Chr8:41805250 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5287A>T (p.Ile1763Phe) single nucleotide variant not provided [RCV002834174] Chr8:41932933 [GRCh38]
Chr8:41790451 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.504G>C (p.Arg168=) single nucleotide variant not provided [RCV002675754] Chr8:42048474 [GRCh38]
Chr8:41905992 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3529C>T (p.Arg1177Trp) single nucleotide variant Inborn genetic diseases [RCV002960140]|not provided [RCV003730320] Chr8:41934691 [GRCh38]
Chr8:41792209 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4543G>C (p.Glu1515Gln) single nucleotide variant Inborn genetic diseases [RCV002832119]|not provided [RCV003561109] Chr8:41933677 [GRCh38]
Chr8:41791195 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1044-10_1044-7del deletion not provided [RCV002599003] Chr8:41977334..41977337 [GRCh38]
Chr8:41834852..41834855 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5866G>A (p.Gly1956Arg) single nucleotide variant Inborn genetic diseases [RCV002717579] Chr8:41932354 [GRCh38]
Chr8:41789872 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4995A>G (p.Gln1665=) single nucleotide variant not provided [RCV002650415] Chr8:41933225 [GRCh38]
Chr8:41790743 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3910G>A (p.Ala1304Thr) single nucleotide variant not provided [RCV002811997] Chr8:41934310 [GRCh38]
Chr8:41791828 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.585A>G (p.Pro195=) single nucleotide variant not provided [RCV002631530] Chr8:42048393 [GRCh38]
Chr8:41905911 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003314054]|Inborn genetic diseases [RCV002702599] Chr8:41933923 [GRCh38]
Chr8:41791441 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
NM_006766.5(KAT6A):c.3040-2A>G single nucleotide variant not provided [RCV002899750] Chr8:41937570 [GRCh38]
Chr8:41795088 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.3321AGA[1] (p.Glu1108_Glu1109del) microsatellite not provided [RCV002650462] Chr8:41937279..41937284 [GRCh38]
Chr8:41794797..41794802 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4986G>A (p.Pro1662=) single nucleotide variant not provided [RCV002646965] Chr8:41933234 [GRCh38]
Chr8:41790752 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5388A>G (p.Pro1796=) single nucleotide variant not provided [RCV002720065] Chr8:41932832 [GRCh38]
Chr8:41790350 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2817A>G (p.Arg939=) single nucleotide variant not provided [RCV002631093] Chr8:41941064 [GRCh38]
Chr8:41798582 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3260G>A (p.Arg1087His) single nucleotide variant Inborn genetic diseases [RCV002935741] Chr8:41937348 [GRCh38]
Chr8:41794866 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4136C>A (p.Ser1379Tyr) single nucleotide variant not provided [RCV003028812] Chr8:41934084 [GRCh38]
Chr8:41791602 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4475A>G (p.Gln1492Arg) single nucleotide variant not provided [RCV002962453] Chr8:41933745 [GRCh38]
Chr8:41791263 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1550A>G (p.Tyr517Cys) single nucleotide variant not provided [RCV002806431] Chr8:41955344 [GRCh38]
Chr8:41812862 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2416G>C (p.Glu806Gln) single nucleotide variant not provided [RCV003026761] Chr8:41942813 [GRCh38]
Chr8:41800331 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3395A>G (p.Asp1132Gly) single nucleotide variant not provided [RCV002647025] Chr8:41934825 [GRCh38]
Chr8:41792343 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1903-8T>A single nucleotide variant not provided [RCV002671161] Chr8:41946692 [GRCh38]
Chr8:41804210 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4424A>G (p.His1475Arg) single nucleotide variant not provided [RCV002937935] Chr8:41933796 [GRCh38]
Chr8:41791314 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3832C>T (p.Arg1278Cys) single nucleotide variant not provided [RCV002580881] Chr8:41934388 [GRCh38]
Chr8:41791906 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5570T>C (p.Ile1857Thr) single nucleotide variant not provided [RCV003048672] Chr8:41932650 [GRCh38]
Chr8:41790168 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5629C>T (p.Arg1877Cys) single nucleotide variant not provided [RCV002598004] Chr8:41932591 [GRCh38]
Chr8:41790109 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity
NM_006766.5(KAT6A):c.5598T>C (p.Ser1866=) single nucleotide variant not provided [RCV002580988] Chr8:41932622 [GRCh38]
Chr8:41790140 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5068C>T (p.Pro1690Ser) single nucleotide variant Inborn genetic diseases [RCV002702860] Chr8:41933152 [GRCh38]
Chr8:41790670 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2493T>G (p.Ser831Arg) single nucleotide variant not provided [RCV002578079] Chr8:41941388 [GRCh38]
Chr8:41798906 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2978A>C (p.Glu993Ala) single nucleotide variant not provided [RCV002716638] Chr8:41940903 [GRCh38]
Chr8:41798421 [GRCh37]
Chr8:8p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.974C>T (p.Ala325Val) single nucleotide variant not provided [RCV003029637] Chr8:41978711 [GRCh38]
Chr8:41836229 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.220C>G (p.Pro74Ala) single nucleotide variant not provided [RCV002962365] Chr8:42048758 [GRCh38]
Chr8:41906276 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5787G>A (p.Gln1929=) single nucleotide variant not provided [RCV002599834] Chr8:41932433 [GRCh38]
Chr8:41789951 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2225A>G (p.Asp742Gly) single nucleotide variant not provided [RCV003047524] Chr8:41943751 [GRCh38]
Chr8:41801269 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5195A>G (p.Tyr1732Cys) single nucleotide variant not provided [RCV002580663] Chr8:41933025 [GRCh38]
Chr8:41790543 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity
NM_006766.5(KAT6A):c.1406G>A (p.Arg469Gln) single nucleotide variant not provided [RCV002581138] Chr8:41974780 [GRCh38]
Chr8:41832298 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2408A>G (p.Gln803Arg) single nucleotide variant not provided [RCV002720909] Chr8:41942821 [GRCh38]
Chr8:41800339 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.12C>T (p.Leu4=) single nucleotide variant not provided [RCV002770247] Chr8:42048966 [GRCh38]
Chr8:41906484 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1003A>G (p.Ile335Val) single nucleotide variant Inborn genetic diseases [RCV003161733]|not provided [RCV003091103] Chr8:41978682 [GRCh38]
Chr8:41836200 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.2986A>T (p.Ser996Cys) single nucleotide variant not provided [RCV002646317] Chr8:41940895 [GRCh38]
Chr8:41798413 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4527C>T (p.Tyr1509=) single nucleotide variant not provided [RCV002720374] Chr8:41933693 [GRCh38]
Chr8:41791211 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4953_5015del (p.Pro1655_Pro1675del) deletion not provided [RCV002631724] Chr8:41933205..41933267 [GRCh38]
Chr8:41790723..41790785 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2338A>G (p.Ile780Val) single nucleotide variant not provided [RCV002726047] Chr8:41942891 [GRCh38]
Chr8:41800409 [GRCh37]
Chr8:8p11.21		 benign|uncertain significance
NM_006766.5(KAT6A):c.4316A>C (p.His1439Pro) single nucleotide variant not provided [RCV002582686] Chr8:41933904 [GRCh38]
Chr8:41791422 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3402G>A (p.Lys1134=) single nucleotide variant not provided [RCV003051314] Chr8:41934818 [GRCh38]
Chr8:41792336 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.885G>A (p.Pro295=) single nucleotide variant not provided [RCV002604740] Chr8:41980868 [GRCh38]
Chr8:41838386 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1525C>G (p.Pro509Ala) single nucleotide variant not provided [RCV002584441] Chr8:41955369 [GRCh38]
Chr8:41812887 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.6013T>A (p.Ter2005Arg) single nucleotide variant not provided [RCV003052078] Chr8:41932207 [GRCh38]
Chr8:41789725 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1056C>T (p.Pro352=) single nucleotide variant not provided [RCV002604318] Chr8:41977315 [GRCh38]
Chr8:41834833 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1302T>C (p.Ser434=) single nucleotide variant not provided [RCV003092598] Chr8:41977069 [GRCh38]
Chr8:41834587 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2738A>G (p.Tyr913Cys) single nucleotide variant not provided [RCV002676847] Chr8:41941143 [GRCh38]
Chr8:41798661 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5749A>G (p.Asn1917Asp) single nucleotide variant not provided [RCV002721756] Chr8:41932471 [GRCh38]
Chr8:41789989 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5735A>G (p.Asn1912Ser) single nucleotide variant not provided [RCV002721768] Chr8:41932485 [GRCh38]
Chr8:41790003 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5322T>C (p.Ser1774=) single nucleotide variant not provided [RCV002604568] Chr8:41932898 [GRCh38]
Chr8:41790416 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3316G>A (p.Asp1106Asn) single nucleotide variant not provided [RCV003067953] Chr8:41937292 [GRCh38]
Chr8:41794810 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5136C>T (p.Thr1712=) single nucleotide variant not provided [RCV002680820] Chr8:41933084 [GRCh38]
Chr8:41790602 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5175C>T (p.Ser1725=) single nucleotide variant not provided [RCV002725519] Chr8:41933045 [GRCh38]
Chr8:41790563 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3361A>G (p.Ile1121Val) single nucleotide variant not provided [RCV002583054] Chr8:41934859 [GRCh38]
Chr8:41792377 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3052C>T (p.His1018Tyr) single nucleotide variant not provided [RCV002603939] Chr8:41937556 [GRCh38]
Chr8:41795074 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3776A>G (p.Asn1259Ser) single nucleotide variant not provided [RCV002680671] Chr8:41934444 [GRCh38]
Chr8:41791962 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1475C>T (p.Ala492Val) single nucleotide variant Inborn genetic diseases [RCV002657949]|not provided [RCV002657948] Chr8:41974711 [GRCh38]
Chr8:41832229 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3469A>G (p.Ser1157Gly) single nucleotide variant Inborn genetic diseases [RCV002678927] Chr8:41934751 [GRCh38]
Chr8:41792269 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4044A>G (p.Gln1348=) single nucleotide variant not provided [RCV003068412] Chr8:41934176 [GRCh38]
Chr8:41791694 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4456G>A (p.Val1486Ile) single nucleotide variant Inborn genetic diseases [RCV002584941]|not provided [RCV002584940] Chr8:41933764 [GRCh38]
Chr8:41791282 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3006A>G (p.Pro1002=) single nucleotide variant not provided [RCV002635093] Chr8:41940875 [GRCh38]
Chr8:41798393 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4989G>A (p.Pro1663=) single nucleotide variant not provided [RCV002584761] Chr8:41933231 [GRCh38]
Chr8:41790749 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3240C>G (p.Phe1080Leu) single nucleotide variant not provided [RCV002725716] Chr8:41937368 [GRCh38]
Chr8:41794886 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2914C>G (p.Arg972Gly) single nucleotide variant not provided [RCV002722071] Chr8:41940967 [GRCh38]
Chr8:41798485 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5643A>T (p.Ala1881=) single nucleotide variant not provided [RCV002609156] Chr8:41932577 [GRCh38]
Chr8:41790095 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5639C>T (p.Ser1880Leu) single nucleotide variant not provided [RCV002609426] Chr8:41932581 [GRCh38]
Chr8:41790099 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3257G>A (p.Arg1086His) single nucleotide variant not provided [RCV002588923] Chr8:41937351 [GRCh38]
Chr8:41794869 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3673GAG[5] (p.Glu1228_Met1229insGlu) microsatellite not provided [RCV002585842] Chr8:41934535..41934536 [GRCh38]
Chr8:41792053..41792054 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4723G>A (p.Gly1575Ser) single nucleotide variant Inborn genetic diseases [RCV003164803]|not provided [RCV002583119] Chr8:41933497 [GRCh38]
Chr8:41791015 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1353T>C (p.Asp451=) single nucleotide variant not provided [RCV002588005] Chr8:41977018 [GRCh38]
Chr8:41834536 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3081A>C (p.Lys1027Asn) single nucleotide variant not provided [RCV003092766] Chr8:41937527 [GRCh38]
Chr8:41795045 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4968A>T (p.Pro1656=) single nucleotide variant not provided [RCV002725688] Chr8:41933252 [GRCh38]
Chr8:41790770 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4575G>A (p.Gln1525=) single nucleotide variant not provided [RCV002589822] Chr8:41933645 [GRCh38]
Chr8:41791163 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5667C>T (p.Arg1889=) single nucleotide variant not provided [RCV002657906] Chr8:41932553 [GRCh38]
Chr8:41790071 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4504G>A (p.Val1502Met) single nucleotide variant not provided [RCV002585322] Chr8:41933716 [GRCh38]
Chr8:41791234 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4443C>T (p.Ser1481=) single nucleotide variant not provided [RCV002676738] Chr8:41933777 [GRCh38]
Chr8:41791295 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.600+20C>T single nucleotide variant not provided [RCV002653834] Chr8:42048358 [GRCh38]
Chr8:41905876 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2981C>A (p.Pro994Gln) single nucleotide variant not provided [RCV002634996] Chr8:41940900 [GRCh38]
Chr8:41798418 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5022_5033del (p.1677QQPQ[1]) deletion not provided [RCV002585431] Chr8:41933187..41933198 [GRCh38]
Chr8:41790705..41790716 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2657T>G (p.Leu886Arg) single nucleotide variant not provided [RCV003072183] Chr8:41941224 [GRCh38]
Chr8:41798742 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4355C>T (p.Ala1452Val) single nucleotide variant not provided [RCV002606180] Chr8:41933865 [GRCh38]
Chr8:41791383 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5185A>G (p.Ile1729Val) single nucleotide variant not provided [RCV003073522] Chr8:41933035 [GRCh38]
Chr8:41790553 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4716G>A (p.Thr1572=) single nucleotide variant not provided [RCV002609002] Chr8:41933504 [GRCh38]
Chr8:41791022 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2098T>C (p.Leu700=) single nucleotide variant not provided [RCV002586528] Chr8:41943878 [GRCh38]
Chr8:41801396 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys) single nucleotide variant Autism spectrum disorder [RCV003314041]|not provided [RCV002612845] Chr8:41934559 [GRCh38]
Chr8:41792077 [GRCh37]
Chr8:8p11.21		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006766.5(KAT6A):c.1121C>T (p.Ser374Leu) single nucleotide variant not provided [RCV002604341] Chr8:41977250 [GRCh38]
Chr8:41834768 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4938C>T (p.Asn1646=) single nucleotide variant not provided [RCV002607275] Chr8:41933282 [GRCh38]
Chr8:41790800 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.908-19G>A single nucleotide variant not provided [RCV002613044] Chr8:41978796 [GRCh38]
Chr8:41836314 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4217T>C (p.Leu1406Ser) single nucleotide variant not provided [RCV002603430] Chr8:41934003 [GRCh38]
Chr8:41791521 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.313C>T (p.Arg105Trp) single nucleotide variant not provided [RCV002609365] Chr8:42048665 [GRCh38]
Chr8:41906183 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.907+10A>G single nucleotide variant not provided [RCV002611483] Chr8:41980836 [GRCh38]
Chr8:41838354 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4371G>T (p.Gln1457His) single nucleotide variant not provided [RCV002814956] Chr8:41933849 [GRCh38]
Chr8:41791367 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.445T>C (p.Leu149=) single nucleotide variant not provided [RCV002584164] Chr8:42048533 [GRCh38]
Chr8:41906051 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5406G>T (p.Gly1802=) single nucleotide variant not provided [RCV003068379] Chr8:41932814 [GRCh38]
Chr8:41790332 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.5039A>T (p.Gln1680Leu) single nucleotide variant not provided [RCV002608129] Chr8:41933181 [GRCh38]
Chr8:41790699 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5123A>G (p.Asn1708Ser) single nucleotide variant not provided [RCV002587429] Chr8:41933097 [GRCh38]
Chr8:41790615 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4113G>C (p.Leu1371=) single nucleotide variant not provided [RCV002611912] Chr8:41934107 [GRCh38]
Chr8:41791625 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.717A>G (p.Pro239=) single nucleotide variant not provided [RCV003067184] Chr8:41981947 [GRCh38]
Chr8:41839465 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.710-18T>C single nucleotide variant not provided [RCV002589637] Chr8:41981972 [GRCh38]
Chr8:41839490 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.566C>T (p.Pro189Leu) single nucleotide variant not provided [RCV002653826] Chr8:42048412 [GRCh38]
Chr8:41905930 [GRCh37]
Chr8:8p11.21		 benign|uncertain significance
NM_006766.5(KAT6A):c.1488T>C (p.Val496=) single nucleotide variant not provided [RCV003070724] Chr8:41955406 [GRCh38]
Chr8:41812924 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5313T>C (p.Tyr1771=) single nucleotide variant not provided [RCV002610442] Chr8:41932907 [GRCh38]
Chr8:41790425 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.2232del (p.Phe744fs) deletion not provided [RCV003066208] Chr8:41942997 [GRCh38]
Chr8:41800515 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.3222G>A (p.Glu1074=) single nucleotide variant not provided [RCV003073142] Chr8:41937386 [GRCh38]
Chr8:41794904 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5492A>G (p.Asn1831Ser) single nucleotide variant not provided [RCV002725955] Chr8:41932728 [GRCh38]
Chr8:41790246 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5964C>T (p.Asn1988=) single nucleotide variant not provided [RCV002610673] Chr8:41932256 [GRCh38]
Chr8:41789774 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3801G>C (p.Glu1267Asp) single nucleotide variant not provided [RCV002610763] Chr8:41934419 [GRCh38]
Chr8:41791937 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4528A>G (p.Thr1510Ala) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003131298] Chr8:41933692 [GRCh38]
Chr8:41791210 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5701G>C (p.Val1901Leu) single nucleotide variant not provided [RCV003227135] Chr8:41932519 [GRCh38]
Chr8:41790037 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4233GGA[1] (p.Glu1414del) microsatellite not provided [RCV003225592] Chr8:41933982..41933984 [GRCh38]
Chr8:41791500..41791502 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3598C>T (p.Arg1200Cys) single nucleotide variant Inborn genetic diseases [RCV003215726]|not provided [RCV003738400] Chr8:41934622 [GRCh38]
Chr8:41792140 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3269C>T (p.Ser1090Leu) single nucleotide variant Inborn genetic diseases [RCV003173628] Chr8:41937339 [GRCh38]
Chr8:41794857 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4373G>A (p.Ser1458Asn) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003133781] Chr8:41933847 [GRCh38]
Chr8:41791365 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2228A>G (p.Gln743Arg) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003133783] Chr8:41943748 [GRCh38]
Chr8:41801266 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3272A>C (p.Gln1091Pro) single nucleotide variant Inborn genetic diseases [RCV003220083] Chr8:41937336 [GRCh38]
Chr8:41794854 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2948G>T (p.Gly983Val) single nucleotide variant Inborn genetic diseases [RCV003198963] Chr8:41940933 [GRCh38]
Chr8:41798451 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4643G>A (p.Ser1548Asn) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003133780] Chr8:41933577 [GRCh38]
Chr8:41791095 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2828G>A (p.Gly943Glu) single nucleotide variant Inborn genetic diseases [RCV003263628] Chr8:41941053 [GRCh38]
Chr8:41798571 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.452T>C (p.Ile151Thr) single nucleotide variant Inborn genetic diseases [RCV003202041] Chr8:42048526 [GRCh38]
Chr8:41906044 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3386G>A (p.Arg1129Gln) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003133782]|KAT6A-related condition [RCV003396907] Chr8:41934834 [GRCh38]
Chr8:41792352 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4154T>C (p.Val1385Ala) single nucleotide variant Inborn genetic diseases [RCV003197661]|not provided [RCV003730455] Chr8:41934066 [GRCh38]
Chr8:41791584 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4533G>C (p.Gln1511His) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003142591] Chr8:41933687 [GRCh38]
Chr8:41791205 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1764T>G (p.Ile588Met) single nucleotide variant not provided [RCV003229406] Chr8:41947889 [GRCh38]
Chr8:41805407 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.214A>T (p.Lys72Ter) single nucleotide variant Inborn genetic diseases [RCV003181249] Chr8:42048764 [GRCh38]
Chr8:41906282 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4342G>A (p.Glu1448Lys) single nucleotide variant not provided [RCV003324979] Chr8:41933878 [GRCh38]
Chr8:41791396 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2272G>A (p.Ala758Thr) single nucleotide variant not provided [RCV003322964] Chr8:41942957 [GRCh38]
Chr8:41800475 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4370A>G (p.Gln1457Arg) single nucleotide variant not provided [RCV003327846] Chr8:41933850 [GRCh38]
Chr8:41791368 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4847G>C (p.Cys1616Ser) single nucleotide variant not specified [RCV003324151] Chr8:41933373 [GRCh38]
Chr8:41790891 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.745A>G (p.Thr249Ala) single nucleotide variant not provided [RCV003329835] Chr8:41981919 [GRCh38]
Chr8:41839437 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3 copy number gain See cases [RCV003329560] Chr8:36763176..50929707 [GRCh37]
Chr8:8p11.23-q11.21		 pathogenic
NM_006766.5(KAT6A):c.1131A>G (p.Ser377=) single nucleotide variant not provided [RCV003423917] Chr8:41977240 [GRCh38]
Chr8:41834758 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5075C>T (p.Pro1692Leu) single nucleotide variant not provided [RCV003329035] Chr8:41933145 [GRCh38]
Chr8:41790663 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003335837] Chr8:41932714..41932715 [GRCh38]
Chr8:41790232..41790233 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.2915G>A (p.Arg972His) single nucleotide variant not provided [RCV002593593] Chr8:41940966 [GRCh38]
Chr8:41798484 [GRCh37]
Chr8:8p11.21		 benign|uncertain significance
NM_006766.5(KAT6A):c.3327A>T (p.Glu1109Asp) single nucleotide variant not provided [RCV003051239] Chr8:41937281 [GRCh38]
Chr8:41794799 [GRCh37]
Chr8:8p11.21		 likely benign|conflicting interpretations of pathogenicity
NM_006766.5(KAT6A):c.4189G>A (p.Glu1397Lys) single nucleotide variant not provided [RCV002588792] Chr8:41934031 [GRCh38]
Chr8:41791549 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3670_3672del (p.Lys1224del) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003154092] Chr8:41934548..41934550 [GRCh38]
Chr8:41792066..41792068 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5924A>G (p.Asn1975Ser) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003150606] Chr8:41932296 [GRCh38]
Chr8:41789814 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.871G>A (p.Glu291Lys) single nucleotide variant not provided [RCV003154448] Chr8:41980882 [GRCh38]
Chr8:41838400 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2170C>T (p.Pro724Ser) single nucleotide variant not provided [RCV003328044] Chr8:41943806 [GRCh38]
Chr8:41801324 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2896A>G (p.Ser966Gly) single nucleotide variant not provided [RCV003218909] Chr8:41940985 [GRCh38]
Chr8:41798503 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5696T>C (p.Met1899Thr) single nucleotide variant not provided [RCV003221712] Chr8:41932524 [GRCh38]
Chr8:41790042 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs) duplication Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003333562] Chr8:41932984..41932985 [GRCh38]
Chr8:41790502..41790503 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.3629C>A (p.Thr1210Asn) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003333323] Chr8:41934591 [GRCh38]
Chr8:41792109 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.907+13T>A single nucleotide variant not provided [RCV003881061] Chr8:41980833 [GRCh38]
Chr8:41838351 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3353A>G (p.Asp1118Gly) single nucleotide variant not provided [RCV003712692] Chr8:41934867 [GRCh38]
Chr8:41792385 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3039+8A>G single nucleotide variant not provided [RCV003712704] Chr8:41940834 [GRCh38]
Chr8:41798352 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5988A>G (p.Ser1996=) single nucleotide variant not provided [RCV003571225] Chr8:41932232 [GRCh38]
Chr8:41789750 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5191A>G (p.Ile1731Val) single nucleotide variant not provided [RCV003569967] Chr8:41933029 [GRCh38]
Chr8:41790547 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5548C>T (p.Pro1850Ser) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003493042]|not provided [RCV003779248] Chr8:41932672 [GRCh38]
Chr8:41790190 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3823G>C (p.Glu1275Gln) single nucleotide variant not provided [RCV003570617] Chr8:41934397 [GRCh38]
Chr8:41791915 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1208A>G (p.Asn403Ser) single nucleotide variant not provided [RCV003543237] Chr8:41977163 [GRCh38]
Chr8:41834681 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2562T>C (p.Asp854=) single nucleotide variant not provided [RCV003874220] Chr8:41941319 [GRCh38]
Chr8:41798837 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.479T>C (p.Leu160Pro) single nucleotide variant not provided [RCV003571000] Chr8:42048499 [GRCh38]
Chr8:41906017 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2729A>G (p.Gln910Arg) single nucleotide variant not provided [RCV003875217] Chr8:41941152 [GRCh38]
Chr8:41798670 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2437-14T>A single nucleotide variant not provided [RCV003712665] Chr8:41941458 [GRCh38]
Chr8:41798976 [GRCh37]
Chr8:8p11.21		 likely benign
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
NM_006766.5(KAT6A):c.2079A>G (p.Ala693=) single nucleotide variant not provided [RCV003543101] Chr8:41943897 [GRCh38]
Chr8:41801415 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1757G>A (p.Ser586Asn) single nucleotide variant not provided [RCV003571721] Chr8:41947896 [GRCh38]
Chr8:41805414 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1409T>A (p.Leu470His) single nucleotide variant not provided [RCV003543746] Chr8:41974777 [GRCh38]
Chr8:41832295 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3061dup (p.Arg1021fs) duplication Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003447896] Chr8:41937546..41937547 [GRCh38]
Chr8:41795064..41795065 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
NM_006766.5(KAT6A):c.3313A>G (p.Lys1105Glu) single nucleotide variant KAT6A-related condition [RCV003404297] Chr8:41937295 [GRCh38]
Chr8:41794813 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1302_1303del (p.Glu435fs) deletion not provided [RCV003435478] Chr8:41977068..41977069 [GRCh38]
Chr8:41834586..41834587 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4673G>A (p.Ser1558Asn) single nucleotide variant not specified [RCV003479829] Chr8:41933547 [GRCh38]
Chr8:41791065 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1902+13G>C single nucleotide variant not provided [RCV003691567] Chr8:41947738 [GRCh38]
Chr8:41805256 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1550_1555dup (p.Glu518_Ile519insAsnGlu) duplication not provided [RCV003443489] Chr8:41955338..41955339 [GRCh38]
Chr8:41812856..41812857 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.557C>G (p.Ser186Cys) single nucleotide variant not provided [RCV003443913] Chr8:42048421 [GRCh38]
Chr8:41905939 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4504G>C (p.Val1502Leu) single nucleotide variant KAT6A-related condition [RCV003391249] Chr8:41933716 [GRCh38]
Chr8:41791234 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2849A>G (p.Gln950Arg) single nucleotide variant not provided [RCV003778347]|not specified [RCV003404857] Chr8:41941032 [GRCh38]
Chr8:41798550 [GRCh37]
Chr8:8p11.21		 likely benign|uncertain significance
NM_006766.5(KAT6A):c.831del (p.Asn277fs) deletion KAT6A-related condition [RCV003394369] Chr8:41980922 [GRCh38]
Chr8:41838440 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.3344_3350del (p.Asp1115fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003444089] Chr8:41937258..41937264 [GRCh38]
Chr8:41794776..41794782 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1762A>G (p.Ile588Val) single nucleotide variant KAT6A-related condition [RCV003408326] Chr8:41947891 [GRCh38]
Chr8:41805409 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4746T>G (p.Ser1582=) single nucleotide variant not provided [RCV003423914] Chr8:41933474 [GRCh38]
Chr8:41790992 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2809A>G (p.Lys937Glu) single nucleotide variant not provided [RCV003443868] Chr8:41941072 [GRCh38]
Chr8:41798590 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1004T>C (p.Ile335Thr) single nucleotide variant KAT6A-related condition [RCV003404484] Chr8:41978681 [GRCh38]
Chr8:41836199 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3207AGA[1] (p.Glu1074del) microsatellite KAT6A-related condition [RCV003420765] Chr8:41937396..41937398 [GRCh38]
Chr8:41794914..41794916 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3739A>C (p.Ser1247Arg) single nucleotide variant not provided [RCV003435477] Chr8:41934481 [GRCh38]
Chr8:41791999 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.279T>C (p.Asn93=) single nucleotide variant not provided [RCV003435479] Chr8:42048699 [GRCh38]
Chr8:41906217 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3721del (p.Glu1241fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003444092] Chr8:41934499 [GRCh38]
Chr8:41792017 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.4669G>A (p.Glu1557Lys) single nucleotide variant not provided [RCV003679208]|not specified [RCV003404740] Chr8:41933551 [GRCh38]
Chr8:41791069 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1229T>C (p.Ile410Thr) single nucleotide variant not provided [RCV003423916] Chr8:41977142 [GRCh38]
Chr8:41834660 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2927del (p.Gly976fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003444030] Chr8:41940954 [GRCh38]
Chr8:41798472 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4571T>C (p.Met1524Thr) single nucleotide variant not provided [RCV003442490] Chr8:41933649 [GRCh38]
Chr8:41791167 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1343G>A (p.Ser448Asn) single nucleotide variant not provided [RCV003423915] Chr8:41977028 [GRCh38]
Chr8:41834546 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3483_3484del (p.His1162fs) deletion KAT6A-related condition [RCV003414359] Chr8:41934736..41934737 [GRCh38]
Chr8:41792254..41792255 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1130C>G (p.Ser377Ter) single nucleotide variant KAT6A-related condition [RCV003406154] Chr8:41977241 [GRCh38]
Chr8:41834759 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.5819C>T (p.Pro1940Leu) single nucleotide variant not provided [RCV003442286] Chr8:41932401 [GRCh38]
Chr8:41789919 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4259T>C (p.Leu1420Pro) single nucleotide variant not provided [RCV003848862] Chr8:41933961 [GRCh38]
Chr8:41791479 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.966G>A (p.Lys322=) single nucleotide variant not provided [RCV003876231] Chr8:41978719 [GRCh38]
Chr8:41836237 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003493232] Chr8:41933055..41933059 [GRCh38]
Chr8:41790573..41790577 [GRCh37]
Chr8:8p11.21		 likely pathogenic
NM_006766.5(KAT6A):c.5765T>C (p.Met1922Thr) single nucleotide variant not provided [RCV003694350] Chr8:41932455 [GRCh38]
Chr8:41789973 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.380G>T (p.Gly127Val) single nucleotide variant KAT6A-related condition [RCV003893355]|not provided [RCV003739006] Chr8:42048598 [GRCh38]
Chr8:41906116 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2413C>G (p.Gln805Glu) single nucleotide variant not provided [RCV003831682] Chr8:41942816 [GRCh38]
Chr8:41800334 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2418A>C (p.Glu806Asp) single nucleotide variant not provided [RCV003826782] Chr8:41942811 [GRCh38]
Chr8:41800329 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.826-14C>G single nucleotide variant not provided [RCV003578043] Chr8:41980941 [GRCh38]
Chr8:41838459 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5103G>A (p.Pro1701=) single nucleotide variant not provided [RCV003849190] Chr8:41933117 [GRCh38]
Chr8:41790635 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3907G>T (p.Asp1303Tyr) single nucleotide variant not provided [RCV003572483] Chr8:41934313 [GRCh38]
Chr8:41791831 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3915T>G (p.Ala1305=) single nucleotide variant not provided [RCV003578480] Chr8:41934305 [GRCh38]
Chr8:41791823 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2656C>T (p.Leu886=) single nucleotide variant not provided [RCV003848966] Chr8:41941225 [GRCh38]
Chr8:41798743 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5273A>T (p.Gln1758Leu) single nucleotide variant not provided [RCV003831831] Chr8:41932947 [GRCh38]
Chr8:41790465 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1308A>C (p.Gln436His) single nucleotide variant not provided [RCV003692155] Chr8:41977063 [GRCh38]
Chr8:41834581 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5857A>G (p.Met1953Val) single nucleotide variant not provided [RCV003576371] Chr8:41932363 [GRCh38]
Chr8:41789881 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1044-18C>T single nucleotide variant not provided [RCV003829738] Chr8:41977345 [GRCh38]
Chr8:41834863 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.6011G>C (p.Arg2004Thr) single nucleotide variant not provided [RCV003713792] Chr8:41932209 [GRCh38]
Chr8:41789727 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2881_2916del (p.Arg961_Arg972del) deletion not provided [RCV003577539] Chr8:41940965..41941000 [GRCh38]
Chr8:41798483..41798518 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3628A>G (p.Thr1210Ala) single nucleotide variant not provided [RCV003578945] Chr8:41934592 [GRCh38]
Chr8:41792110 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1720A>C (p.Asn574His) single nucleotide variant not provided [RCV003696558] Chr8:41949242 [GRCh38]
Chr8:41806760 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5777G>A (p.Arg1926Gln) single nucleotide variant not provided [RCV003877363] Chr8:41932443 [GRCh38]
Chr8:41789961 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1210A>G (p.Lys404Glu) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003493044] Chr8:41977161 [GRCh38]
Chr8:41834679 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3353-3T>C single nucleotide variant not provided [RCV003877576] Chr8:41934870 [GRCh38]
Chr8:41792388 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3813G>A (p.Glu1271=) single nucleotide variant not provided [RCV003879565] Chr8:41934407 [GRCh38]
Chr8:41791925 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3328G>T (p.Asp1110Tyr) single nucleotide variant not provided [RCV003693691] Chr8:41937280 [GRCh38]
Chr8:41794798 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5525C>T (p.Thr1842Met) single nucleotide variant not provided [RCV003660489] Chr8:41932695 [GRCh38]
Chr8:41790213 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4352C>T (p.Ala1451Val) single nucleotide variant not provided [RCV003574380] Chr8:41933868 [GRCh38]
Chr8:41791386 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3351T>C (p.Asp1117=) single nucleotide variant not provided [RCV003660552] Chr8:41937257 [GRCh38]
Chr8:41794775 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2835G>A (p.Glu945=) single nucleotide variant not provided [RCV003694979] Chr8:41941046 [GRCh38]
Chr8:41798564 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5684G>A (p.Arg1895His) single nucleotide variant not provided [RCV003829419] Chr8:41932536 [GRCh38]
Chr8:41790054 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3927C>T (p.Ala1309=) single nucleotide variant not provided [RCV003547279] Chr8:41934293 [GRCh38]
Chr8:41791811 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5668G>T (p.Ala1890Ser) single nucleotide variant not provided [RCV003828888] Chr8:41932552 [GRCh38]
Chr8:41790070 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3352+6T>G single nucleotide variant not provided [RCV003695002] Chr8:41937250 [GRCh38]
Chr8:41794768 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4266G>A (p.Leu1422=) single nucleotide variant not provided [RCV003547850] Chr8:41933954 [GRCh38]
Chr8:41791472 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1063A>C (p.Lys355Gln) single nucleotide variant not provided [RCV003689886] Chr8:41977308 [GRCh38]
Chr8:41834826 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5073A>G (p.Pro1691=) single nucleotide variant not provided [RCV003576213] Chr8:41933147 [GRCh38]
Chr8:41790665 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5183A>G (p.Asn1728Ser) single nucleotide variant not provided [RCV003571962] Chr8:41933037 [GRCh38]
Chr8:41790555 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.131G>A (p.Arg44His) single nucleotide variant not provided [RCV003660238] Chr8:42048847 [GRCh38]
Chr8:41906365 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1519C>T (p.Arg507Cys) single nucleotide variant not provided [RCV003715397] Chr8:41955375 [GRCh38]
Chr8:41812893 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3066A>G (p.Arg1022=) single nucleotide variant not provided [RCV003545318] Chr8:41937542 [GRCh38]
Chr8:41795060 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3964G>A (p.Gly1322Ser) single nucleotide variant not provided [RCV003575546] Chr8:41934256 [GRCh38]
Chr8:41791774 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5140G>A (p.Ala1714Thr) single nucleotide variant not provided [RCV003576066] Chr8:41933080 [GRCh38]
Chr8:41790598 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5528A>G (p.Gln1843Arg) single nucleotide variant not provided [RCV003692932] Chr8:41932692 [GRCh38]
Chr8:41790210 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.895C>T (p.Arg299Cys) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003493041] Chr8:41980858 [GRCh38]
Chr8:41838376 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.933A>G (p.Arg311=) single nucleotide variant not provided [RCV003688001] Chr8:41978752 [GRCh38]
Chr8:41836270 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2563A>T (p.Ser855Cys) single nucleotide variant not provided [RCV003714578] Chr8:41941318 [GRCh38]
Chr8:41798836 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1481A>G (p.Gln494Arg) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003883339] Chr8:41974705 [GRCh38]
Chr8:41832223 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1483-7T>C single nucleotide variant not provided [RCV003572446] Chr8:41955418 [GRCh38]
Chr8:41812936 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3040-18G>C single nucleotide variant not provided [RCV003831165] Chr8:41937586 [GRCh38]
Chr8:41795104 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3052del (p.His1018fs) deletion not provided [RCV003696099] Chr8:41937556 [GRCh38]
Chr8:41795074 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.4221C>A (p.Ile1407=) single nucleotide variant not provided [RCV003690633] Chr8:41933999 [GRCh38]
Chr8:41791517 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4502A>G (p.Asn1501Ser) single nucleotide variant not provided [RCV003878821] Chr8:41933718 [GRCh38]
Chr8:41791236 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.688T>C (p.Cys230Arg) single nucleotide variant not provided [RCV003714148] Chr8:41987476 [GRCh38]
Chr8:41844994 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.825+18C>G single nucleotide variant not provided [RCV003545302] Chr8:41981821 [GRCh38]
Chr8:41839339 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2109T>A (p.Leu703=) single nucleotide variant not provided [RCV003831190] Chr8:41943867 [GRCh38]
Chr8:41801385 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5694C>T (p.Asn1898=) single nucleotide variant not provided [RCV003690933] Chr8:41932526 [GRCh38]
Chr8:41790044 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4715C>T (p.Thr1572Met) single nucleotide variant not provided [RCV003695584] Chr8:41933505 [GRCh38]
Chr8:41791023 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4957C>T (p.Pro1653Ser) single nucleotide variant not provided [RCV003578037] Chr8:41933263 [GRCh38]
Chr8:41790781 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5662C>G (p.Pro1888Ala) single nucleotide variant not provided [RCV003739239] Chr8:41932558 [GRCh38]
Chr8:41790076 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2063G>A (p.Arg688His) single nucleotide variant not provided [RCV003830718] Chr8:41943913 [GRCh38]
Chr8:41801431 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4010C>T (p.Thr1337Met) single nucleotide variant not provided [RCV003826408] Chr8:41934210 [GRCh38]
Chr8:41791728 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4016A>G (p.Glu1339Gly) single nucleotide variant not provided [RCV003573670] Chr8:41934204 [GRCh38]
Chr8:41791722 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3699_3719del (p.Ala1236_Glu1242del) deletion not provided [RCV003876954] Chr8:41934501..41934521 [GRCh38]
Chr8:41792019..41792039 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4193A>G (p.Glu1398Gly) single nucleotide variant not provided [RCV003831310] Chr8:41934027 [GRCh38]
Chr8:41791545 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2597G>T (p.Gly866Val) single nucleotide variant not provided [RCV003547233] Chr8:41941284 [GRCh38]
Chr8:41798802 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2965G>C (p.Glu989Gln) single nucleotide variant not provided [RCV003693274] Chr8:41940916 [GRCh38]
Chr8:41798434 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2821A>G (p.Ser941Gly) single nucleotide variant not provided [RCV003829205] Chr8:41941060 [GRCh38]
Chr8:41798578 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.710-7G>A single nucleotide variant not provided [RCV003830110] Chr8:41981961 [GRCh38]
Chr8:41839479 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2775G>C (p.Glu925Asp) single nucleotide variant not provided [RCV003544221] Chr8:41941106 [GRCh38]
Chr8:41798624 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5299_5310del (p.His1767_Pro1770del) deletion not provided [RCV003690385] Chr8:41932910..41932921 [GRCh38]
Chr8:41790428..41790439 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2046G>A (p.Pro682=) single nucleotide variant not provided [RCV003713024] Chr8:41943930 [GRCh38]
Chr8:41801448 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4932C>T (p.Pro1644=) single nucleotide variant not provided [RCV003714582] Chr8:41933288 [GRCh38]
Chr8:41790806 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.825+9C>G single nucleotide variant not provided [RCV003546339] Chr8:41981830 [GRCh38]
Chr8:41839348 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1122A>G (p.Ser374=) single nucleotide variant not provided [RCV003544569] Chr8:41977249 [GRCh38]
Chr8:41834767 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3699_3707del (p.1233AEE[1]) deletion not provided [RCV003687167] Chr8:41934513..41934521 [GRCh38]
Chr8:41792031..41792039 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5827A>G (p.Met1943Val) single nucleotide variant not provided [RCV003575276] Chr8:41932393 [GRCh38]
Chr8:41789911 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3572C>A (p.Pro1191His) single nucleotide variant not provided [RCV003715253] Chr8:41934648 [GRCh38]
Chr8:41792166 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2473G>A (p.Asp825Asn) single nucleotide variant not provided [RCV003688625] Chr8:41941408 [GRCh38]
Chr8:41798926 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5146A>G (p.Met1716Val) single nucleotide variant not provided [RCV003825418] Chr8:41933074 [GRCh38]
Chr8:41790592 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4221C>T (p.Ile1407=) single nucleotide variant not provided [RCV003881093] Chr8:41933999 [GRCh38]
Chr8:41791517 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5413C>A (p.Gln1805Lys) single nucleotide variant not provided [RCV003544505] Chr8:41932807 [GRCh38]
Chr8:41790325 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5902A>C (p.Met1968Leu) single nucleotide variant not provided [RCV003688319] Chr8:41932318 [GRCh38]
Chr8:41789836 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2228+6T>G single nucleotide variant not provided [RCV003714989] Chr8:41943742 [GRCh38]
Chr8:41801260 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2623A>G (p.Thr875Ala) single nucleotide variant not provided [RCV003693034] Chr8:41941258 [GRCh38]
Chr8:41798776 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3250T>C (p.Tyr1084His) single nucleotide variant not provided [RCV003663414] Chr8:41937358 [GRCh38]
Chr8:41794876 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.908-5del deletion not provided [RCV003714689] Chr8:41978782 [GRCh38]
Chr8:41836300 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5637A>G (p.Pro1879=) single nucleotide variant KAT6A-related condition [RCV003981176]|not provided [RCV003878624] Chr8:41932583 [GRCh38]
Chr8:41790101 [GRCh37]
Chr8:8p11.21		 benign|likely benign
NM_006766.5(KAT6A):c.1107T>A (p.Thr369=) single nucleotide variant not provided [RCV003693171] Chr8:41977264 [GRCh38]
Chr8:41834782 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1400A>C (p.Glu467Ala) single nucleotide variant not provided [RCV003715238] Chr8:41974786 [GRCh38]
Chr8:41832304 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4880C>G (p.Ala1627Gly) single nucleotide variant not provided [RCV003715247] Chr8:41933340 [GRCh38]
Chr8:41790858 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.388G>T (p.Asp130Tyr) single nucleotide variant not provided [RCV003715453] Chr8:42048590 [GRCh38]
Chr8:41906108 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.263A>G (p.His88Arg) single nucleotide variant not provided [RCV003662890] Chr8:42048715 [GRCh38]
Chr8:41906233 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5084C>G (p.Pro1695Arg) single nucleotide variant not provided [RCV003573346] Chr8:41933136 [GRCh38]
Chr8:41790654 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1191T>C (p.Asn397=) single nucleotide variant not provided [RCV003824461] Chr8:41977180 [GRCh38]
Chr8:41834698 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1793A>G (p.Lys598Arg) single nucleotide variant not provided [RCV003689177] Chr8:41947860 [GRCh38]
Chr8:41805378 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2437-15A>G single nucleotide variant not provided [RCV003690134] Chr8:41941459 [GRCh38]
Chr8:41798977 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4579A>G (p.Met1527Val) single nucleotide variant not provided [RCV003545317] Chr8:41933641 [GRCh38]
Chr8:41791159 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5679T>C (p.Val1893=) single nucleotide variant not provided [RCV003545143] Chr8:41932541 [GRCh38]
Chr8:41790059 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2609G>A (p.Arg870Lys) single nucleotide variant not provided [RCV003545196] Chr8:41941272 [GRCh38]
Chr8:41798790 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3347C>G (p.Ala1116Gly) single nucleotide variant not provided [RCV003692574] Chr8:41937261 [GRCh38]
Chr8:41794779 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3090T>C (p.Asn1030=) single nucleotide variant not provided [RCV003712792] Chr8:41937518 [GRCh38]
Chr8:41795036 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2992C>T (p.Arg998Trp) single nucleotide variant not provided [RCV003548030] Chr8:41940889 [GRCh38]
Chr8:41798407 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3234A>C (p.Glu1078Asp) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003493043] Chr8:41937374 [GRCh38]
Chr8:41794892 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1902+7A>G single nucleotide variant not provided [RCV003547703] Chr8:41947744 [GRCh38]
Chr8:41805262 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1881C>T (p.His627=) single nucleotide variant not provided [RCV003662629] Chr8:41947772 [GRCh38]
Chr8:41805290 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3039+6G>A single nucleotide variant not provided [RCV003833688] Chr8:41940836 [GRCh38]
Chr8:41798354 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5042AGC[1] (p.Gln1682del) microsatellite not provided [RCV003833701] Chr8:41933173..41933175 [GRCh38]
Chr8:41790691..41790693 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3808G>A (p.Val1270Met) single nucleotide variant not provided [RCV003699683] Chr8:41934412 [GRCh38]
Chr8:41791930 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3352+3A>G single nucleotide variant not provided [RCV003812205] Chr8:41937253 [GRCh38]
Chr8:41794771 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5507A>C (p.Asn1836Thr) single nucleotide variant not provided [RCV003833827] Chr8:41932713 [GRCh38]
Chr8:41790231 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3259C>T (p.Arg1087Cys) single nucleotide variant not provided [RCV003811338] Chr8:41937349 [GRCh38]
Chr8:41794867 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3004C>A (p.Pro1002Thr) single nucleotide variant not provided [RCV003700024] Chr8:41940877 [GRCh38]
Chr8:41798395 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4550G>T (p.Gly1517Val) single nucleotide variant not provided [RCV003579825] Chr8:41933670 [GRCh38]
Chr8:41791188 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2046G>C (p.Pro682=) single nucleotide variant not provided [RCV003549443] Chr8:41943930 [GRCh38]
Chr8:41801448 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2829G>T (p.Gly943=) single nucleotide variant not provided [RCV003717523] Chr8:41941052 [GRCh38]
Chr8:41798570 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1903-3C>T single nucleotide variant not provided [RCV003850059] Chr8:41946687 [GRCh38]
Chr8:41804205 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2397C>G (p.Asn799Lys) single nucleotide variant not provided [RCV003717530] Chr8:41942832 [GRCh38]
Chr8:41800350 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4284G>T (p.Val1428=) single nucleotide variant not provided [RCV003850159] Chr8:41933936 [GRCh38]
Chr8:41791454 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4186C>T (p.His1396Tyr) single nucleotide variant not provided [RCV003699295] Chr8:41934034 [GRCh38]
Chr8:41791552 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5974G>A (p.Val1992Met) single nucleotide variant not provided [RCV003834967] Chr8:41932246 [GRCh38]
Chr8:41789764 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1156C>T (p.Arg386Trp) single nucleotide variant not provided [RCV003724699] Chr8:41977215 [GRCh38]
Chr8:41834733 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3535A>G (p.Ile1179Val) single nucleotide variant not provided [RCV003717512] Chr8:41934685 [GRCh38]
Chr8:41792203 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3760C>T (p.Pro1254Ser) single nucleotide variant not provided [RCV003673580] Chr8:41934460 [GRCh38]
Chr8:41791978 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1827T>C (p.Asp609=) single nucleotide variant not provided [RCV003548095] Chr8:41947826 [GRCh38]
Chr8:41805344 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2323C>T (p.Arg775Cys) single nucleotide variant not provided [RCV003664531] Chr8:41942906 [GRCh38]
Chr8:41800424 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2256T>C (p.Leu752=) single nucleotide variant not provided [RCV003810891] Chr8:41942973 [GRCh38]
Chr8:41800491 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3942C>T (p.His1314=) single nucleotide variant not provided [RCV003840057] Chr8:41934278 [GRCh38]
Chr8:41791796 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4961C>T (p.Pro1654Leu) single nucleotide variant not provided [RCV003667295] Chr8:41933259 [GRCh38]
Chr8:41790777 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3666G>C (p.Glu1222Asp) single nucleotide variant not provided [RCV003701825] Chr8:41934554 [GRCh38]
Chr8:41792072 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.710-17_710-16insGAA insertion not provided [RCV003697002] Chr8:41981970..41981971 [GRCh38]
Chr8:41839488..41839489 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2657T>A (p.Leu886Gln) single nucleotide variant not provided [RCV003849587] Chr8:41941224 [GRCh38]
Chr8:41798742 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5018C>T (p.Pro1673Leu) single nucleotide variant not provided [RCV003851634] Chr8:41933202 [GRCh38]
Chr8:41790720 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2283G>A (p.Gln761=) single nucleotide variant not provided [RCV003669881] Chr8:41942946 [GRCh38]
Chr8:41800464 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5838A>G (p.Thr1946=) single nucleotide variant not provided [RCV003670244] Chr8:41932382 [GRCh38]
Chr8:41789900 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.335A>T (p.Glu112Val) single nucleotide variant not provided [RCV003856754] Chr8:42048643 [GRCh38]
Chr8:41906161 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2673G>A (p.Thr891=) single nucleotide variant not provided [RCV003674443] Chr8:41941208 [GRCh38]
Chr8:41798726 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2940C>T (p.Val980=) single nucleotide variant not provided [RCV003703160] Chr8:41940941 [GRCh38]
Chr8:41798459 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5112G>C (p.Gln1704His) single nucleotide variant not provided [RCV003725702] Chr8:41933108 [GRCh38]
Chr8:41790626 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3410C>T (p.Pro1137Leu) single nucleotide variant not provided [RCV003811144] Chr8:41934810 [GRCh38]
Chr8:41792328 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3985A>G (p.Lys1329Glu) single nucleotide variant not provided [RCV003839960] Chr8:41934235 [GRCh38]
Chr8:41791753 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2802C>T (p.Asp934=) single nucleotide variant not provided [RCV003856248] Chr8:41941079 [GRCh38]
Chr8:41798597 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4198T>A (p.Ser1400Thr) single nucleotide variant not provided [RCV003726877] Chr8:41934022 [GRCh38]
Chr8:41791540 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3040-6A>G single nucleotide variant not provided [RCV003674479] Chr8:41937574 [GRCh38]
Chr8:41795092 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4890C>G (p.Cys1630Trp) single nucleotide variant not provided [RCV003724141] Chr8:41933330 [GRCh38]
Chr8:41790848 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2546A>G (p.Gln849Arg) single nucleotide variant not provided [RCV003548169] Chr8:41941335 [GRCh38]
Chr8:41798853 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5761G>A (p.Ala1921Thr) single nucleotide variant not provided [RCV003673188] Chr8:41932459 [GRCh38]
Chr8:41789977 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3688C>G (p.Gln1230Glu) single nucleotide variant not provided [RCV003561574] Chr8:41934532 [GRCh38]
Chr8:41792050 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3270G>C (p.Ser1090=) single nucleotide variant not provided [RCV003840310] Chr8:41937338 [GRCh38]
Chr8:41794856 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2869_2870delinsTT (p.Ala957Phe) indel not provided [RCV003674180] Chr8:41941011..41941012 [GRCh38]
Chr8:41798529..41798530 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5731G>A (p.Val1911Ile) single nucleotide variant not provided [RCV003560527] Chr8:41932489 [GRCh38]
Chr8:41790007 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.513T>C (p.Thr171=) single nucleotide variant not provided [RCV003548214] Chr8:42048465 [GRCh38]
Chr8:41905983 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4427C>A (p.Ala1476Glu) single nucleotide variant not provided [RCV003666511] Chr8:41933793 [GRCh38]
Chr8:41791311 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3353-17T>A single nucleotide variant not provided [RCV003666367] Chr8:41934884 [GRCh38]
Chr8:41792402 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3830C>T (p.Pro1277Leu) single nucleotide variant not provided [RCV003834382] Chr8:41934390 [GRCh38]
Chr8:41791908 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.972A>T (p.Ala324=) single nucleotide variant not provided [RCV003699342] Chr8:41978713 [GRCh38]
Chr8:41836231 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2812A>G (p.Arg938Gly) single nucleotide variant not provided [RCV003666808] Chr8:41941069 [GRCh38]
Chr8:41798587 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2927G>A (p.Gly976Asp) single nucleotide variant not provided [RCV003700219] Chr8:41940954 [GRCh38]
Chr8:41798472 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4792C>A (p.Leu1598Ile) single nucleotide variant not provided [RCV003838123] Chr8:41933428 [GRCh38]
Chr8:41790946 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.600+12A>G single nucleotide variant not provided [RCV003835509] Chr8:42048366 [GRCh38]
Chr8:41905884 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1363+15_1363+16del deletion not provided [RCV003668150] Chr8:41976992..41976993 [GRCh38]
Chr8:41834510..41834511 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3865G>A (p.Glu1289Lys) single nucleotide variant not provided [RCV003671095] Chr8:41934355 [GRCh38]
Chr8:41791873 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1854A>G (p.Leu618=) single nucleotide variant not provided [RCV003669630] Chr8:41947799 [GRCh38]
Chr8:41805317 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.988C>T (p.Arg330Cys) single nucleotide variant not provided [RCV003669609] Chr8:41978697 [GRCh38]
Chr8:41836215 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2436+13A>T single nucleotide variant not provided [RCV003672096] Chr8:41942780 [GRCh38]
Chr8:41800298 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1997-12G>C single nucleotide variant not provided [RCV003666340] Chr8:41943991 [GRCh38]
Chr8:41801509 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.19C>T (p.Pro7Ser) single nucleotide variant not provided [RCV003700694] Chr8:42048959 [GRCh38]
Chr8:41906477 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3249A>G (p.Glu1083=) single nucleotide variant not provided [RCV003838091] Chr8:41937359 [GRCh38]
Chr8:41794877 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.711C>T (p.Gly237=) single nucleotide variant not provided [RCV003839158] Chr8:41981953 [GRCh38]
Chr8:41839471 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1089_1091del (p.Arg364del) deletion not provided [RCV003670065] Chr8:41977280..41977282 [GRCh38]
Chr8:41834798..41834800 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4203C>A (p.His1401Gln) single nucleotide variant not provided [RCV003666695] Chr8:41934017 [GRCh38]
Chr8:41791535 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5439C>T (p.Pro1813=) single nucleotide variant not provided [RCV003702426] Chr8:41932781 [GRCh38]
Chr8:41790299 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3653C>G (p.Pro1218Arg) single nucleotide variant not provided [RCV003834852] Chr8:41934567 [GRCh38]
Chr8:41792085 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2324G>A (p.Arg775His) single nucleotide variant not provided [RCV003838579] Chr8:41942905 [GRCh38]
Chr8:41800423 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3609dup (p.Ile1204fs) duplication not provided [RCV003580144] Chr8:41934610..41934611 [GRCh38]
Chr8:41792128..41792129 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1328G>T (p.Gly443Val) single nucleotide variant not provided [RCV003700210] Chr8:41977043 [GRCh38]
Chr8:41834561 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2642A>G (p.Asp881Gly) single nucleotide variant not provided [RCV003811782] Chr8:41941239 [GRCh38]
Chr8:41798757 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2936C>T (p.Ala979Val) single nucleotide variant not provided [RCV003697389] Chr8:41940945 [GRCh38]
Chr8:41798463 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1112C>A (p.Ser371Tyr) single nucleotide variant not provided [RCV003724215] Chr8:41977259 [GRCh38]
Chr8:41834777 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2163A>C (p.Gly721=) single nucleotide variant not provided [RCV003835187] Chr8:41943813 [GRCh38]
Chr8:41801331 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5625T>C (p.Tyr1875=) single nucleotide variant not provided [RCV003671338] Chr8:41932595 [GRCh38]
Chr8:41790113 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.710-6T>A single nucleotide variant not provided [RCV003837840] Chr8:41981960 [GRCh38]
Chr8:41839478 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5295C>T (p.Asp1765=) single nucleotide variant not provided [RCV003672119] Chr8:41932925 [GRCh38]
Chr8:41790443 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4641C>T (p.Asp1547=) single nucleotide variant not provided [RCV003838978] Chr8:41933579 [GRCh38]
Chr8:41791097 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1044-10A>T single nucleotide variant not provided [RCV003850321] Chr8:41977337 [GRCh38]
Chr8:41834855 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.84A>G (p.Ser28=) single nucleotide variant not provided [RCV003834861] Chr8:42048894 [GRCh38]
Chr8:41906412 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4680T>C (p.Thr1560=) single nucleotide variant not provided [RCV003835580] Chr8:41933540 [GRCh38]
Chr8:41791058 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5037G>A (p.Pro1679=) single nucleotide variant not provided [RCV003559365] Chr8:41933183 [GRCh38]
Chr8:41790701 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.616A>G (p.Ile206Val) single nucleotide variant not provided [RCV003670959] Chr8:41987548 [GRCh38]
Chr8:41845066 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1828G>T (p.Val610Leu) single nucleotide variant not provided [RCV003700368] Chr8:41947825 [GRCh38]
Chr8:41805343 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2884T>G (p.Leu962Val) single nucleotide variant not provided [RCV003667433] Chr8:41940997 [GRCh38]
Chr8:41798515 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2949C>T (p.Gly983=) single nucleotide variant not provided [RCV003667764] Chr8:41940932 [GRCh38]
Chr8:41798450 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.815G>A (p.Gly272Asp) single nucleotide variant not provided [RCV003665533] Chr8:41981849 [GRCh38]
Chr8:41839367 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2217C>T (p.Phe739=) single nucleotide variant not provided [RCV003671414] Chr8:41943759 [GRCh38]
Chr8:41801277 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2583G>T (p.Gln861His) single nucleotide variant not provided [RCV003700573] Chr8:41941298 [GRCh38]
Chr8:41798816 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5640G>A (p.Ser1880=) single nucleotide variant not provided [RCV003723949] Chr8:41932580 [GRCh38]
Chr8:41790098 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2518C>T (p.Pro840Ser) single nucleotide variant not provided [RCV003667523] Chr8:41941363 [GRCh38]
Chr8:41798881 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4808G>A (p.Cys1603Tyr) single nucleotide variant not provided [RCV003838392] Chr8:41933412 [GRCh38]
Chr8:41790930 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.327C>T (p.Gly109=) single nucleotide variant not provided [RCV003549599] Chr8:42048651 [GRCh38]
Chr8:41906169 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.738T>C (p.Pro246=) single nucleotide variant not provided [RCV003700076] Chr8:41981926 [GRCh38]
Chr8:41839444 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.405C>T (p.Phe135=) single nucleotide variant not provided [RCV003837552] Chr8:42048573 [GRCh38]
Chr8:41906091 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1438A>G (p.Lys480Glu) single nucleotide variant not provided [RCV003724940] Chr8:41974748 [GRCh38]
Chr8:41832266 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3739A>G (p.Ser1247Gly) single nucleotide variant not provided [RCV003542014] Chr8:41934481 [GRCh38]
Chr8:41791999 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2436+17T>C single nucleotide variant not provided [RCV003857717] Chr8:41942776 [GRCh38]
Chr8:41800294 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2981C>T (p.Pro994Leu) single nucleotide variant not provided [RCV003731141] Chr8:41940900 [GRCh38]
Chr8:41798418 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5943C>T (p.Pro1981=) single nucleotide variant not provided [RCV003675897] Chr8:41932277 [GRCh38]
Chr8:41789795 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4410G>C (p.Met1470Ile) single nucleotide variant not provided [RCV003732371] Chr8:41933810 [GRCh38]
Chr8:41791328 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4164G>C (p.Gln1388His) single nucleotide variant not provided [RCV003732372] Chr8:41934056 [GRCh38]
Chr8:41791574 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.584C>T (p.Pro195Leu) single nucleotide variant not provided [RCV003711123] Chr8:42048394 [GRCh38]
Chr8:41905912 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3806A>G (p.Glu1269Gly) single nucleotide variant not provided [RCV003843423] Chr8:41934414 [GRCh38]
Chr8:41791932 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2463C>A (p.Asn821Lys) single nucleotide variant not provided [RCV003858431] Chr8:41941418 [GRCh38]
Chr8:41798936 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2014C>T (p.Arg672Cys) single nucleotide variant not provided [RCV003845112] Chr8:41943962 [GRCh38]
Chr8:41801480 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.101A>G (p.Asn34Ser) single nucleotide variant not provided [RCV003734607] Chr8:42048877 [GRCh38]
Chr8:41906395 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3991G>A (p.Glu1331Lys) single nucleotide variant not provided [RCV003682052] Chr8:41934229 [GRCh38]
Chr8:41791747 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1482+16_1482+18dup duplication not provided [RCV003858754] Chr8:41974685..41974686 [GRCh38]
Chr8:41832203..41832204 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5361C>T (p.Ser1787=) single nucleotide variant not provided [RCV003564624] Chr8:41932859 [GRCh38]
Chr8:41790377 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2169C>T (p.Cys723=) single nucleotide variant not provided [RCV003859473] Chr8:41943807 [GRCh38]
Chr8:41801325 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2233G>T (p.Val745Leu) single nucleotide variant not provided [RCV003678762] Chr8:41942996 [GRCh38]
Chr8:41800514 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1598+18del deletion not provided [RCV003858265] Chr8:41955278 [GRCh38]
Chr8:41812796 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3287G>A (p.Cys1096Tyr) single nucleotide variant not provided [RCV003861269] Chr8:41937321 [GRCh38]
Chr8:41794839 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1269G>T (p.Gly423=) single nucleotide variant not provided [RCV003846849] Chr8:41977102 [GRCh38]
Chr8:41834620 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5231A>G (p.Tyr1744Cys) single nucleotide variant not provided [RCV003846758] Chr8:41932989 [GRCh38]
Chr8:41790507 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5568C>T (p.Ser1856=) single nucleotide variant not provided [RCV003562358] Chr8:41932652 [GRCh38]
Chr8:41790170 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4103A>T (p.Glu1368Val) single nucleotide variant not provided [RCV003708024] Chr8:41934117 [GRCh38]
Chr8:41791635 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2965GAG[6] (p.Glu993_Pro994insGlu) microsatellite not provided [RCV003553531] Chr8:41940901..41940902 [GRCh38]
Chr8:41798419..41798420 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2480A>G (p.Tyr827Cys) single nucleotide variant not provided [RCV003554601] Chr8:41941401 [GRCh38]
Chr8:41798919 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3009A>G (p.Pro1003=) single nucleotide variant not provided [RCV003675136] Chr8:41940872 [GRCh38]
Chr8:41798390 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5641G>T (p.Ala1881Ser) single nucleotide variant not provided [RCV003727546] Chr8:41932579 [GRCh38]
Chr8:41790097 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1421A>G (p.Gln474Arg) single nucleotide variant not provided [RCV003818982] Chr8:41974765 [GRCh38]
Chr8:41832283 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.825+18C>T single nucleotide variant not provided [RCV003858381] Chr8:41981821 [GRCh38]
Chr8:41839339 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5972G>T (p.Gly1991Val) single nucleotide variant not provided [RCV003710718] Chr8:41932248 [GRCh38]
Chr8:41789766 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.826-14_826-11del microsatellite not provided [RCV003718625] Chr8:41980938..41980941 [GRCh38]
Chr8:41838456..41838459 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5928G>A (p.Met1976Ile) single nucleotide variant not provided [RCV003551313] Chr8:41932292 [GRCh38]
Chr8:41789810 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2656C>G (p.Leu886Val) single nucleotide variant not provided [RCV003860558] Chr8:41941225 [GRCh38]
Chr8:41798743 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.987G>A (p.Arg329=) single nucleotide variant not provided [RCV003676058] Chr8:41978698 [GRCh38]
Chr8:41836216 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2590C>T (p.Arg864Trp) single nucleotide variant not provided [RCV003848120] Chr8:41941291 [GRCh38]
Chr8:41798809 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4971_4994dup (p.Gln1665_Pro1666insGlnProGlnProProProProGln) duplication not provided [RCV003841472] Chr8:41933225..41933226 [GRCh38]
Chr8:41790743..41790744 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3177A>G (p.Pro1059=) single nucleotide variant not provided [RCV003820437] Chr8:41937431 [GRCh38]
Chr8:41794949 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5993A>G (p.Asn1998Ser) single nucleotide variant not provided [RCV003821810] Chr8:41932227 [GRCh38]
Chr8:41789745 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2437-19T>C single nucleotide variant not provided [RCV003843738] Chr8:41941463 [GRCh38]
Chr8:41798981 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3159C>G (p.Asp1053Glu) single nucleotide variant not provided [RCV003864512] Chr8:41937449 [GRCh38]
Chr8:41794967 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4076G>A (p.Ser1359Asn) single nucleotide variant not provided [RCV003729512] Chr8:41934144 [GRCh38]
Chr8:41791662 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4959A>G (p.Pro1653=) single nucleotide variant not provided [RCV003848201] Chr8:41933261 [GRCh38]
Chr8:41790779 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3196G>A (p.Glu1066Lys) single nucleotide variant not provided [RCV003680553] Chr8:41937412 [GRCh38]
Chr8:41794930 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5206C>T (p.Pro1736Ser) single nucleotide variant not provided [RCV003555795] Chr8:41933014 [GRCh38]
Chr8:41790532 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.710-14C>T single nucleotide variant not provided [RCV003550911] Chr8:41981968 [GRCh38]
Chr8:41839486 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1266T>A (p.Asp422Glu) single nucleotide variant not provided [RCV003680785] Chr8:41977105 [GRCh38]
Chr8:41834623 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5628C>T (p.Gly1876=) single nucleotide variant not provided [RCV003712297] Chr8:41932592 [GRCh38]
Chr8:41790110 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1732G>C (p.Val578Leu) single nucleotide variant not provided [RCV003677856] Chr8:41949230 [GRCh38]
Chr8:41806748 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5955C>G (p.Ser1985Arg) single nucleotide variant not provided [RCV003710200] Chr8:41932265 [GRCh38]
Chr8:41789783 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1406G>T (p.Arg469Leu) single nucleotide variant not provided [RCV003676900] Chr8:41974780 [GRCh38]
Chr8:41832298 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3228A>G (p.Glu1076=) single nucleotide variant not provided [RCV003711580] Chr8:41937380 [GRCh38]
Chr8:41794898 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5228G>T (p.Ser1743Ile) single nucleotide variant not provided [RCV003737171] Chr8:41932992 [GRCh38]
Chr8:41790510 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4011G>A (p.Thr1337=) single nucleotide variant not provided [RCV003722188] Chr8:41934209 [GRCh38]
Chr8:41791727 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5078C>A (p.Pro1693Gln) single nucleotide variant not provided [RCV003722268] Chr8:41933142 [GRCh38]
Chr8:41790660 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2964C>T (p.Ser988=) single nucleotide variant not provided [RCV003733148] Chr8:41940917 [GRCh38]
Chr8:41798435 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1501C>G (p.Pro501Ala) single nucleotide variant not provided [RCV003863423] Chr8:41955393 [GRCh38]
Chr8:41812911 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
NM_006766.5(KAT6A):c.2532A>G (p.Thr844=) single nucleotide variant not provided [RCV003733348] Chr8:41941349 [GRCh38]
Chr8:41798867 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2913_2915del (p.Arg972del) deletion not provided [RCV003866848] Chr8:41940966..41940968 [GRCh38]
Chr8:41798484..41798486 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3 copy number gain not specified [RCV003986759] Chr8:37988714..43780050 [GRCh37]
Chr8:8p11.23-11.1		 uncertain significance
NM_006766.5(KAT6A):c.1467A>G (p.Gln489=) single nucleotide variant not provided [RCV003861541] Chr8:41974719 [GRCh38]
Chr8:41832237 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2536T>C (p.Leu846=) single nucleotide variant not provided [RCV003722621] Chr8:41941345 [GRCh38]
Chr8:41798863 [GRCh37]
Chr8:8p11.21		 likely benign
GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3 copy number gain not specified [RCV003986761] Chr8:37972810..43837099 [GRCh37]
Chr8:8p11.23-11.1		 uncertain significance
NM_006766.5(KAT6A):c.3430A>G (p.Thr1144Ala) single nucleotide variant not provided [RCV003869421] Chr8:41934790 [GRCh38]
Chr8:41792308 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3900G>C (p.Glu1300Asp) single nucleotide variant not provided [RCV003869427] Chr8:41934320 [GRCh38]
Chr8:41791838 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.826-8T>C single nucleotide variant not provided [RCV003871341] Chr8:41980935 [GRCh38]
Chr8:41838453 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5877G>A (p.Gly1959=) single nucleotide variant not provided [RCV003727340] Chr8:41932343 [GRCh38]
Chr8:41789861 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1923G>A (p.Lys641=) single nucleotide variant not provided [RCV003710484] Chr8:41946664 [GRCh38]
Chr8:41804182 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3039+18_3039+19del deletion not provided [RCV003710493] Chr8:41940823..41940824 [GRCh38]
Chr8:41798341..41798342 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4094A>G (p.Asp1365Gly) single nucleotide variant not provided [RCV003868170] Chr8:41934126 [GRCh38]
Chr8:41791644 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4507C>T (p.Pro1503Ser) single nucleotide variant not provided [RCV003867520] Chr8:41933713 [GRCh38]
Chr8:41791231 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1082G>T (p.Gly361Val) single nucleotide variant not provided [RCV003841093] Chr8:41977289 [GRCh38]
Chr8:41834807 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4427C>T (p.Ala1476Val) single nucleotide variant not provided [RCV003854061] Chr8:41933793 [GRCh38]
Chr8:41791311 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1409T>C (p.Leu470Pro) single nucleotide variant not provided [RCV003719509] Chr8:41974777 [GRCh38]
Chr8:41832295 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4740C>T (p.Asn1580=) single nucleotide variant not provided [RCV003845999] Chr8:41933480 [GRCh38]
Chr8:41790998 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4857G>A (p.Met1619Ile) single nucleotide variant not provided [RCV003734177] Chr8:41933363 [GRCh38]
Chr8:41790881 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4364C>T (p.Thr1455Ile) single nucleotide variant not provided [RCV003681741] Chr8:41933856 [GRCh38]
Chr8:41791374 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1457G>A (p.Arg486His) single nucleotide variant not provided [RCV003721641] Chr8:41974729 [GRCh38]
Chr8:41832247 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3506G>A (p.Arg1169Gln) single nucleotide variant not provided [RCV003846288] Chr8:41934714 [GRCh38]
Chr8:41792232 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.130C>T (p.Arg44Cys) single nucleotide variant not provided [RCV003862647] Chr8:42048848 [GRCh38]
Chr8:41906366 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5139A>G (p.Pro1713=) single nucleotide variant not provided [RCV003864899] Chr8:41933081 [GRCh38]
Chr8:41790599 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5700G>A (p.Gly1900=) single nucleotide variant not provided [RCV003685527] Chr8:41932520 [GRCh38]
Chr8:41790038 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4250A>G (p.His1417Arg) single nucleotide variant not provided [RCV003820616] Chr8:41933970 [GRCh38]
Chr8:41791488 [GRCh37]
Chr8:8p11.21		 uncertain significance
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_006766.5(KAT6A):c.2385G>C (p.Glu795Asp) single nucleotide variant not provided [RCV003678046] Chr8:41942844 [GRCh38]
Chr8:41800362 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1		 pathogenic
NM_006766.5(KAT6A):c.4951C>T (p.Pro1651Ser) single nucleotide variant not provided [RCV003704707] Chr8:41933269 [GRCh38]
Chr8:41790787 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2644A>G (p.Lys882Glu) single nucleotide variant not provided [RCV003685932] Chr8:41941237 [GRCh38]
Chr8:41798755 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1413T>C (p.Phe471=) single nucleotide variant not provided [RCV003822047] Chr8:41974773 [GRCh38]
Chr8:41832291 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3797A>G (p.Lys1266Arg) single nucleotide variant not provided [RCV003557276] Chr8:41934423 [GRCh38]
Chr8:41791941 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4108G>C (p.Glu1370Gln) single nucleotide variant not provided [RCV003868360] Chr8:41934112 [GRCh38]
Chr8:41791630 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4720G>A (p.Gly1574Ser) single nucleotide variant not provided [RCV003683976] Chr8:41933500 [GRCh38]
Chr8:41791018 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4860G>A (p.Gln1620=) single nucleotide variant not provided [RCV003563325] Chr8:41933360 [GRCh38]
Chr8:41790878 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1355G>T (p.Trp452Leu) single nucleotide variant not provided [RCV003865302] Chr8:41977016 [GRCh38]
Chr8:41834534 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4015G>C (p.Glu1339Gln) single nucleotide variant not provided [RCV003678647] Chr8:41934205 [GRCh38]
Chr8:41791723 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1527C>G (p.Pro509=) single nucleotide variant not provided [RCV003709818] Chr8:41955367 [GRCh38]
Chr8:41812885 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1311T>C (p.Tyr437=) single nucleotide variant not provided [RCV003680731] Chr8:41977060 [GRCh38]
Chr8:41834578 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1956A>G (p.Gln652=) single nucleotide variant not provided [RCV003853233] Chr8:41946631 [GRCh38]
Chr8:41804149 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.928T>A (p.Cys310Ser) single nucleotide variant not provided [RCV003721342] Chr8:41978757 [GRCh38]
Chr8:41836275 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4092G>A (p.Lys1364=) single nucleotide variant not provided [RCV003858415] Chr8:41934128 [GRCh38]
Chr8:41791646 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1171G>T (p.Asp391Tyr) single nucleotide variant not provided [RCV003721365] Chr8:41977200 [GRCh38]
Chr8:41834718 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5695A>G (p.Met1899Val) single nucleotide variant not provided [RCV003733564] Chr8:41932525 [GRCh38]
Chr8:41790043 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.811C>G (p.Gln271Glu) single nucleotide variant not provided [RCV003868781] Chr8:41981853 [GRCh38]
Chr8:41839371 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.1740+9G>C single nucleotide variant not provided [RCV003568806] Chr8:41949213 [GRCh38]
Chr8:41806731 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5665C>T (p.Arg1889Cys) single nucleotide variant not provided [RCV003847737] Chr8:41932555 [GRCh38]
Chr8:41790073 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2055T>C (p.Asp685=) single nucleotide variant not provided [RCV003562703] Chr8:41943921 [GRCh38]
Chr8:41801439 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4973_4981dup (p.Gln1660_Pro1661insGlnProGln) duplication not provided [RCV003720563] Chr8:41933238..41933239 [GRCh38]
Chr8:41790756..41790757 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5650A>G (p.Met1884Val) single nucleotide variant not provided [RCV003720570] Chr8:41932570 [GRCh38]
Chr8:41790088 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2913T>A (p.Arg971=) single nucleotide variant not provided [RCV003710707] Chr8:41940968 [GRCh38]
Chr8:41798486 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3860A>T (p.Glu1287Val) single nucleotide variant not provided [RCV003736111] Chr8:41934360 [GRCh38]
Chr8:41791878 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4390G>A (p.Glu1464Lys) single nucleotide variant not provided [RCV003556751] Chr8:41933830 [GRCh38]
Chr8:41791348 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4469C>T (p.Pro1490Leu) single nucleotide variant not provided [RCV003550997] Chr8:41933751 [GRCh38]
Chr8:41791269 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1308A>G (p.Gln436=) single nucleotide variant not provided [RCV003708497] Chr8:41977063 [GRCh38]
Chr8:41834581 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.471C>T (p.His157=) single nucleotide variant not provided [RCV003857894] Chr8:42048507 [GRCh38]
Chr8:41906025 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.710-8C>T single nucleotide variant not provided [RCV003823862] Chr8:41981962 [GRCh38]
Chr8:41839480 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1740+10A>G single nucleotide variant not provided [RCV003553092] Chr8:41949212 [GRCh38]
Chr8:41806730 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5067G>C (p.Gln1689His) single nucleotide variant not provided [RCV003863528] Chr8:41933153 [GRCh38]
Chr8:41790671 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.484A>G (p.Lys162Glu) single nucleotide variant not provided [RCV003709996] Chr8:42048494 [GRCh38]
Chr8:41906012 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5268G>A (p.Leu1756=) single nucleotide variant not provided [RCV003859303] Chr8:41932952 [GRCh38]
Chr8:41790470 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3039+11T>A single nucleotide variant not provided [RCV003564341] Chr8:41940831 [GRCh38]
Chr8:41798349 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4366C>T (p.Leu1456=) single nucleotide variant not provided [RCV003705942] Chr8:41933854 [GRCh38]
Chr8:41791372 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5430G>T (p.Met1810Ile) single nucleotide variant not provided [RCV003681998] Chr8:41932790 [GRCh38]
Chr8:41790308 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2830G>A (p.Val944Ile) single nucleotide variant not provided [RCV003542566] Chr8:41941051 [GRCh38]
Chr8:41798569 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4216T>A (p.Leu1406Ile) single nucleotide variant not provided [RCV003566018] Chr8:41934004 [GRCh38]
Chr8:41791522 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5458A>G (p.Thr1820Ala) single nucleotide variant not provided [RCV003863993] Chr8:41932762 [GRCh38]
Chr8:41790280 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.21G>A (p.Pro7=) single nucleotide variant not provided [RCV003848671] Chr8:42048957 [GRCh38]
Chr8:41906475 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4341G>A (p.Glu1447=) single nucleotide variant not provided [RCV003711388] Chr8:41933879 [GRCh38]
Chr8:41791397 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3946G>A (p.Ala1316Thr) single nucleotide variant not provided [RCV003670571] Chr8:41934274 [GRCh38]
Chr8:41791792 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1299C>T (p.Tyr433=) single nucleotide variant not provided [RCV003730878] Chr8:41977072 [GRCh38]
Chr8:41834590 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3413T>C (p.Leu1138Pro) single nucleotide variant not provided [RCV003553376] Chr8:41934807 [GRCh38]
Chr8:41792325 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.594G>T (p.Lys198Asn) single nucleotide variant not provided [RCV003552831] Chr8:42048384 [GRCh38]
Chr8:41905902 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.2584C>T (p.Pro862Ser) single nucleotide variant not provided [RCV003670596] Chr8:41941297 [GRCh38]
Chr8:41798815 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5754C>T (p.Thr1918=) single nucleotide variant not provided [RCV003675566] Chr8:41932466 [GRCh38]
Chr8:41789984 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5467C>T (p.Leu1823Phe) single nucleotide variant not provided [RCV003564589] Chr8:41932753 [GRCh38]
Chr8:41790271 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1364-8A>G single nucleotide variant not provided [RCV003682839] Chr8:41974830 [GRCh38]
Chr8:41832348 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5019A>T (p.Pro1673=) single nucleotide variant not provided [RCV003821756] Chr8:41933201 [GRCh38]
Chr8:41790719 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.825+15C>T single nucleotide variant not provided [RCV003679843] Chr8:41981824 [GRCh38]
Chr8:41839342 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3062G>A (p.Arg1021Lys) single nucleotide variant not provided [RCV003856991] Chr8:41937546 [GRCh38]
Chr8:41795064 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2023C>T (p.Gln675Ter) single nucleotide variant not provided [RCV003564655] Chr8:41943953 [GRCh38]
Chr8:41801471 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.408A>T (p.Gly136=) single nucleotide variant not provided [RCV003563578] Chr8:42048570 [GRCh38]
Chr8:41906088 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1725T>C (p.Asn575=) single nucleotide variant not provided [RCV003841735] Chr8:41949237 [GRCh38]
Chr8:41806755 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3872A>G (p.Gln1291Arg) single nucleotide variant not provided [RCV003866110] Chr8:41934348 [GRCh38]
Chr8:41791866 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5914C>T (p.Pro1972Ser) single nucleotide variant not provided [RCV003680024] Chr8:41932306 [GRCh38]
Chr8:41789824 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4191A>G (p.Glu1397=) single nucleotide variant not provided [RCV003710645] Chr8:41934029 [GRCh38]
Chr8:41791547 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4626T>G (p.Ser1542=) single nucleotide variant not provided [RCV003818380] Chr8:41933594 [GRCh38]
Chr8:41791112 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2970G>A (p.Glu990=) single nucleotide variant not provided [RCV003727238] Chr8:41940911 [GRCh38]
Chr8:41798429 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5223C>T (p.Ala1741=) single nucleotide variant not provided [RCV003732694] Chr8:41932997 [GRCh38]
Chr8:41790515 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4323C>T (p.Gly1441=) single nucleotide variant not provided [RCV003822144] Chr8:41933897 [GRCh38]
Chr8:41791415 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.910A>G (p.Met304Val) single nucleotide variant not provided [RCV003710766] Chr8:41978775 [GRCh38]
Chr8:41836293 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5061C>T (p.Pro1687=) single nucleotide variant not provided [RCV003563798] Chr8:41933159 [GRCh38]
Chr8:41790677 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2476T>C (p.Ser826Pro) single nucleotide variant not provided [RCV003676124] Chr8:41941405 [GRCh38]
Chr8:41798923 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4998A>G (p.Pro1666=) single nucleotide variant not provided [RCV003706496] Chr8:41933222 [GRCh38]
Chr8:41790740 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3039+5C>T single nucleotide variant not provided [RCV003859833] Chr8:41940837 [GRCh38]
Chr8:41798355 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3353-16_3353-15insC insertion not provided [RCV003822751] Chr8:41934882..41934883 [GRCh38]
Chr8:41792400..41792401 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3235C>G (p.Leu1079Val) single nucleotide variant not provided [RCV003566027] Chr8:41937373 [GRCh38]
Chr8:41794891 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.5961G>A (p.Met1987Ile) single nucleotide variant not provided [RCV003554642] Chr8:41932259 [GRCh38]
Chr8:41789777 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1126T>G (p.Ser376Ala) single nucleotide variant not provided [RCV003734182] Chr8:41977245 [GRCh38]
Chr8:41834763 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.4931C>T (p.Pro1644Leu) single nucleotide variant not provided [RCV003674863] Chr8:41933289 [GRCh38]
Chr8:41790807 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.368G>A (p.Arg123His) single nucleotide variant not provided [RCV003818587] Chr8:42048610 [GRCh38]
Chr8:41906128 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3970C>G (p.Leu1324Val) single nucleotide variant not provided [RCV003681590] Chr8:41934250 [GRCh38]
Chr8:41791768 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.4061C>G (p.Ala1354Gly) single nucleotide variant not provided [RCV003820058] Chr8:41934159 [GRCh38]
Chr8:41791677 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1054C>G (p.Pro352Ala) single nucleotide variant not provided [RCV003843582] Chr8:41977317 [GRCh38]
Chr8:41834835 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5170G>A (p.Gly1724Arg) single nucleotide variant not provided [RCV003677461] Chr8:41933050 [GRCh38]
Chr8:41790568 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5910T>C (p.Pro1970=) single nucleotide variant not provided [RCV003709637] Chr8:41932310 [GRCh38]
Chr8:41789828 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2154G>A (p.Lys718=) single nucleotide variant not provided [RCV003843784] Chr8:41943822 [GRCh38]
Chr8:41801340 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.6008G>T (p.Arg2003Ile) single nucleotide variant not provided [RCV003566490] Chr8:41932212 [GRCh38]
Chr8:41789730 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4909A>T (p.Ser1637Cys) single nucleotide variant not provided [RCV003845135] Chr8:41933311 [GRCh38]
Chr8:41790829 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1445T>C (p.Met482Thr) single nucleotide variant not provided [RCV003841268] Chr8:41974741 [GRCh38]
Chr8:41832259 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2625C>A (p.Thr875=) single nucleotide variant not provided [RCV003705749] Chr8:41941256 [GRCh38]
Chr8:41798774 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5902A>G (p.Met1968Val) single nucleotide variant not provided [RCV003822688] Chr8:41932318 [GRCh38]
Chr8:41789836 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.507C>T (p.Leu169=) single nucleotide variant not provided [RCV003863733] Chr8:42048471 [GRCh38]
Chr8:41905989 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.2489A>T (p.Glu830Val) single nucleotide variant not provided [RCV003843884] Chr8:41941392 [GRCh38]
Chr8:41798910 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.339T>C (p.Ser113=) single nucleotide variant not provided [RCV003683364] Chr8:42048639 [GRCh38]
Chr8:41906157 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.3417G>A (p.Glu1139=) single nucleotide variant not provided [RCV003567300] Chr8:41934803 [GRCh38]
Chr8:41792321 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3861G>A (p.Glu1287=) single nucleotide variant not provided [RCV003863226] Chr8:41934359 [GRCh38]
Chr8:41791877 [GRCh37]
Chr8:8p11.21		 benign
NM_006766.5(KAT6A):c.5929A>G (p.Met1977Val) single nucleotide variant KAT6A-related condition [RCV003984436]|not provided [RCV003845362] Chr8:41932291 [GRCh38]
Chr8:41789809 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.1571C>T (p.Ser524Phe) single nucleotide variant not provided [RCV003710161] Chr8:41955323 [GRCh38]
Chr8:41812841 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3638C>T (p.Pro1213Leu) single nucleotide variant not provided [RCV003886867] Chr8:41934582 [GRCh38]
Chr8:41792100 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.4753A>G (p.Ser1585Gly) single nucleotide variant KAT6A-related condition [RCV003899540] Chr8:41933467 [GRCh38]
Chr8:41790985 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1172A>C (p.Asp391Ala) single nucleotide variant KAT6A-related condition [RCV003896923] Chr8:41977199 [GRCh38]
Chr8:41834717 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2525del (p.Ser842fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003985677] Chr8:41941356 [GRCh38]
Chr8:41798874 [GRCh37]
Chr8:8p11.21		 not provided
NM_006766.5(KAT6A):c.4980del (p.Gln1660fs) deletion Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003985159] Chr8:41933240 [GRCh38]
Chr8:41790758 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.2968_2969delinsAT (p.Glu990Met) indel not specified [RCV003988441] Chr8:41940912..41940913 [GRCh38]
Chr8:41798430..41798431 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.2943C>T (p.Leu981=) single nucleotide variant KAT6A-related condition [RCV003922254] Chr8:41940938 [GRCh38]
Chr8:41798456 [GRCh37]
Chr8:8p11.21		 likely benign
NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs) microsatellite Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003985245] Chr8:41934392..41934396 [GRCh38]
Chr8:41791910..41791914 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_006766.5(KAT6A):c.1570T>C (p.Ser524Pro) single nucleotide variant not provided [RCV003887604] Chr8:41955324 [GRCh38]
Chr8:41812842 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.1210A>C (p.Lys404Gln) single nucleotide variant Inborn genetic diseases [RCV003385899] Chr8:41977161 [GRCh38]
Chr8:41834679 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.826-4A>G single nucleotide variant not provided [RCV003387654] Chr8:41980931 [GRCh38]
Chr8:41838449 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.5705A>G (p.Asn1902Ser) single nucleotide variant Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome [RCV003336623] Chr8:41932515 [GRCh38]
Chr8:41790033 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_006766.5(KAT6A):c.3038A>G (p.Lys1013Arg) single nucleotide variant not provided [RCV003331468] Chr8:41940843 [GRCh38]
Chr8:41798361 [GRCh37]
Chr8:8p11.21		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3777
Count of miRNA genes:975
Interacting mature miRNAs:1153
Transcripts:ENST00000265713, ENST00000396930, ENST00000406337, ENST00000418721, ENST00000426524, ENST00000463961, ENST00000470574, ENST00000485568
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
WI-15071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37841,787,048 - 41,787,155UniSTSGRCh37
Build 36841,906,205 - 41,906,312RGDNCBI36
Celera840,736,118 - 40,736,225RGD
Cytogenetic Map8p11UniSTS
HuRef840,315,035 - 40,315,142UniSTS
GeneMap99-GB4 RH Map8180.83UniSTS
Whitehead-RH Map8230.8UniSTS
G63180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37841,894,807 - 41,895,117UniSTSGRCh37
Build 36842,013,964 - 42,014,274RGDNCBI36
Celera840,843,890 - 40,844,200RGD
Cytogenetic Map8p11UniSTS
HuRef840,422,657 - 40,422,967UniSTS
TNG Radiation Hybrid Map822988.0UniSTS
RH16550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37841,788,729 - 41,788,916UniSTSGRCh37
Build 36841,907,886 - 41,908,073RGDNCBI36
Celera840,737,800 - 40,737,987RGD
Cytogenetic Map8p11UniSTS
HuRef840,316,713 - 40,316,900UniSTS
GeneMap99-GB4 RH Map8172.43UniSTS
NCBI RH Map8630.1UniSTS
RH12816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37841,788,309 - 41,788,456UniSTSGRCh37
Build 36841,907,466 - 41,907,613RGDNCBI36
Cytogenetic Map8p11UniSTS
HuRef840,316,293 - 40,316,440UniSTS
GeneMap99-GB4 RH Map8186.41UniSTS
MYST3_3901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37841,788,147 - 41,789,062UniSTSGRCh37
Build 36841,907,304 - 41,908,219RGDNCBI36
Celera840,737,217 - 40,738,133RGD
HuRef840,316,129 - 40,317,046UniSTS
D7S3207  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Myst3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37841,906,246 - 41,906,494UniSTSGRCh37
Celera840,855,349 - 40,855,597UniSTS
HuRef840,433,992 - 40,434,240UniSTS


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 1750 1842 964 164 1454 58 3718 1060 1514 201 1311 1572 122 1 1153 2184 6 2
Low 689 1149 762 460 497 407 639 1137 2220 218 149 41 53 51 604
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001305878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA310750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP248857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP271264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP348860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB216817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA257528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA442995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA758316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW020603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW032476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U47742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265713   ⟹   ENSP00000265713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,929,479 - 42,051,987 (-)Ensembl
RefSeq Acc Id: ENST00000396930   ⟹   ENSP00000380136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,930,761 - 42,051,990 (-)Ensembl
RefSeq Acc Id: ENST00000406337   ⟹   ENSP00000385888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,929,479 - 42,051,994 (-)Ensembl
RefSeq Acc Id: ENST00000418721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,934,774 - 41,958,363 (-)Ensembl
RefSeq Acc Id: ENST00000426524   ⟹   ENSP00000396699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,045,878 - 42,051,987 (-)Ensembl
RefSeq Acc Id: ENST00000463961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,974,800 - 41,977,490 (-)Ensembl
RefSeq Acc Id: ENST00000470574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,973,498 - 42,051,987 (-)Ensembl
RefSeq Acc Id: ENST00000485568   ⟹   ENSP00000430606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,942,049 - 42,051,987 (-)Ensembl
RefSeq Acc Id: ENST00000647746   ⟹   ENSP00000497515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,964,351 - 41,977,135 (-)Ensembl
RefSeq Acc Id: ENST00000647809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,946,513 - 42,051,984 (-)Ensembl
RefSeq Acc Id: ENST00000648030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,973,404 - 42,051,987 (-)Ensembl
RefSeq Acc Id: ENST00000648224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,938,345 - 41,941,876 (-)Ensembl
RefSeq Acc Id: ENST00000648335   ⟹   ENSP00000497086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,933,188 - 42,051,987 (-)Ensembl
RefSeq Acc Id: ENST00000649817   ⟹   ENSP00000497780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,930,762 - 41,974,734 (-)Ensembl
RefSeq Acc Id: ENST00000649827   ⟹   ENSP00000497447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,934,400 - 42,051,987 (-)Ensembl
RefSeq Acc Id: ENST00000650356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,973,422 - 42,051,994 (-)Ensembl
RefSeq Acc Id: ENST00000650495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl841,934,789 - 41,944,860 (-)Ensembl
RefSeq Acc Id: NM_001305878   ⟹   NP_001292807
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38841,942,049 - 42,051,987 (-)NCBI
CHM1_1841,847,999 - 41,957,840 (-)NCBI
T2T-CHM13v2.0842,216,349 - 42,326,296 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006766   ⟹   NP_006757
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38841,929,479 - 42,051,987 (-)NCBI
GRCh37841,786,997 - 41,909,506 (-)NCBI
Build 36841,906,154 - 42,028,662 (-)NCBI Archive
HuRef840,314,984 - 40,434,974 (-)ENTREZGENE
CHM1_1841,835,431 - 41,957,840 (-)NCBI
T2T-CHM13v2.0842,203,787 - 42,326,296 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_006757   ⟸   NM_006766
- Peptide Label: isoform 1
- UniProtKB: Q92794 (UniProtKB/Swiss-Prot),   A0A3F2YNX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001292807   ⟸   NM_001305878
- Peptide Label: isoform 2
- UniProtKB: A5PLL3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497086   ⟸   ENST00000648335
RefSeq Acc Id: ENSP00000497780   ⟸   ENST00000649817
RefSeq Acc Id: ENSP00000497447   ⟸   ENST00000649827
RefSeq Acc Id: ENSP00000396699   ⟸   ENST00000426524
RefSeq Acc Id: ENSP00000385888   ⟸   ENST00000406337
RefSeq Acc Id: ENSP00000430606   ⟸   ENST00000485568
RefSeq Acc Id: ENSP00000380136   ⟸   ENST00000396930
RefSeq Acc Id: ENSP00000265713   ⟸   ENST00000265713
RefSeq Acc Id: ENSP00000497515   ⟸   ENST00000647746
Protein Domains
H15   MYST-type HAT   PHD-type   SAMD1-like winged helix (WH)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92794-F1-model_v2 AlphaFold Q92794 1-2004 view protein structure

Promoters
RGD ID:6806895
Promoter ID:HG_KWN:61200
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000318162
Position:
Human AssemblyChrPosition (strand)Source
Build 36841,933,579 - 41,934,079 (-)MPROMDB
RGD ID:6806896
Promoter ID:HG_KWN:61202
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001099412,   NM_001099413,   NM_006766,   OTTHUMT00000318161,   OTTHUMT00000318164
Position:
Human AssemblyChrPosition (strand)Source
Build 36842,028,591 - 42,029,152 (-)MPROMDB
RGD ID:7213191
Promoter ID:EPDNEW_H12342
Type:initiation region
Name:KAT6A_1
Description:lysine acetyltransferase 6A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12344  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,051,987 - 42,052,047EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13013 AgrOrtholog
COSMIC KAT6A COSMIC
Ensembl Genes ENSG00000083168 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265713 ENTREZGENE
  ENST00000265713.8 UniProtKB/Swiss-Prot
  ENST00000396930.4 UniProtKB/Swiss-Prot
  ENST00000406337.6 UniProtKB/TrEMBL
  ENST00000426524.6 UniProtKB/TrEMBL
  ENST00000485568 ENTREZGENE
  ENST00000485568.5 UniProtKB/TrEMBL
  ENST00000647746.1 UniProtKB/TrEMBL
  ENST00000648335.1 UniProtKB/TrEMBL
  ENST00000649817.1 UniProtKB/TrEMBL
  ENST00000649827.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.630.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  N-acetyl transferase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000083168 GTEx
HGNC ID HGNC:13013 ENTREZGENE
Human Proteome Map KAT6A Human Proteome Map
InterPro Acyl_CoA_acyltransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAT_MYST-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Histone_H1/H5_H15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAMD1-like_WH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zf-MYST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD-finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7994 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7994 ENTREZGENE
OMIM 601408 OMIM
PANTHER HISTONE ACETYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10615:SF26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MOZ_SAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAMD1_WH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-MYST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37592 PharmGKB
PROSITE H15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYST_HAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAMD1_WH UniProtKB/Swiss-Prot
  ZF_PHD_1 UniProtKB/Swiss-Prot
  ZF_PHD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART H15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55729 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IS53_HUMAN UniProtKB/TrEMBL
  A0A3B3ISU5_HUMAN UniProtKB/TrEMBL
  A0A3B3ISZ3_HUMAN UniProtKB/TrEMBL
  A0A3B3ITI3_HUMAN UniProtKB/TrEMBL
  A0A3F2YNX6 ENTREZGENE, UniProtKB/TrEMBL
  A5PKX7_HUMAN UniProtKB/TrEMBL
  A5PLL3 ENTREZGENE, UniProtKB/TrEMBL
  C9JJY6_HUMAN UniProtKB/TrEMBL
  KAT6A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q76L81 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 KAT6A  lysine acetyltransferase 6A    K(lysine) acetyltransferase 6A  Symbol and/or name change 5135510 APPROVED
2011-07-27 KAT6A  K(lysine) acetyltransferase 6A  MYST3  MYST histone acetyltransferase (monocytic leukemia) 3  Symbol and/or name change 5135510 APPROVED