KAT6B (lysine acetyltransferase 6B) - Rat Genome Database

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Gene: KAT6B (lysine acetyltransferase 6B) Homo sapiens
Analyze
Symbol: KAT6B
Name: lysine acetyltransferase 6B
RGD ID: 1353532
HGNC Page HGNC:17582
Description: Enables histone H3K14 acetyltransferase activity and transcription coactivator activity. Involved in negative regulation of DNA-templated transcription and positive regulation of DNA-templated transcription. Located in MOZ/MORF histone acetyltransferase complex and nucleus. Implicated in Ohdo syndrome, SBBYS variant; bipolar disorder; breast cancer; and leiomyoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp313G1618; FLJ90335; GTPTS; histone acetyltransferase KAT6B; histone acetyltransferase MORF; histone acetyltransferase MOZ2; histone acetyltransferase MYST4; K(lysine) acetyltransferase 6B; KIAA0383; monocytic leukemia zinc finger protein-related factor; MORF; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4; MOZ-related factor; MOZ2; MYST histone acetyltransferase (monocytic leukemia) 4; MYST-4; MYST4; qkf; querkopf; ZC2HC6B
RGD Orthologs
Mouse
Rat
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
GRCh381074,824,936 - 75,032,624 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1074,824,927 - 75,032,624 (+)EnsemblGRCh38hg38GRCh38
GRCh371076,585,013 - 76,792,382 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361076,256,385 - 76,462,645 (+)NCBINCBI36Build 36hg18NCBI36
Build 341076,268,463 - 76,460,810NCBI
Celera1069,874,402 - 70,080,888 (+)NCBICelera
Cytogenetic Map10q22.2NCBI
HuRef1070,584,503 - 70,790,954 (+)NCBIHuRef
CHM1_11076,868,040 - 77,074,125 (+)NCBICHM1_1
T2T-CHM13v2.01075,698,186 - 75,906,154 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
adefovir pivoxil  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A5  (EXP)
bortezomib  (EXP)
butanal  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
choline  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clothianidin  (EXP)
D-glucose  (ISO)
diarsenic trioxide  (EXP)
diclofenac  (EXP)
dicrotophos  (EXP)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
gallic acid  (EXP)
glucose  (ISO)
ifosfamide  (EXP)
L-methionine  (ISO)
methoxychlor  (ISO)
N,N-diethyl-m-toluamide  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
ozone  (ISO)
paracetamol  (EXP)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
phenobarbital  (ISO)
PhIP  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pyrimidifen  (EXP)
sarin  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
tetrachloromethane  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal antihelix morphology  (IAGP)
Abnormal cheek morphology  (IAGP)
Abnormal nasolacrimal system morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anal atresia  (IAGP)
Anal stenosis  (IAGP)
Anteriorly placed anus  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Apnea  (IAGP)
Arachnodactyly  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Blepharophimosis  (IAGP)
Brachydactyly  (IAGP)
Bulbous nose  (IAGP)
Camptodactyly of finger  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clitoral hypertrophy  (IAGP)
Coarse facial features  (IAGP)
Colpocephaly  (IAGP)
Congenital hip dislocation  (IAGP)
Cryptorchidism  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Dilated cardiomyopathy  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysphagia  (IAGP)
Ectopic thyroid  (IAGP)
Enlarged labia minora  (IAGP)
Ependymoma  (IAGP)
Epicanthus  (IAGP)
Epicanthus inversus  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Fine hair  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized joint hypermobility  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hip contracture  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypoplastic ilia  (IAGP)
Hypoplastic ischia  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Inferior pubic ramus hypoplasia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, progressive  (IAGP)
Intellectual disability, severe  (IAGP)
Joint hypermobility  (IAGP)
Knee flexion contracture  (IAGP)
Labial hypoplasia  (IAGP)
Laryngomalacia  (IAGP)
Long hallux  (IAGP)
Long nose  (IAGP)
Long philtrum  (IAGP)
Long thumb  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Malrotation of small bowel  (IAGP)
Mania  (IAGP)
Mask-like facies  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Motor delay  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Neoplasm of the tongue  (IAGP)
Nephronophthisis  (IAGP)
Pachygyria  (IAGP)
Patellar aplasia  (IAGP)
Patellar dislocation  (IAGP)
Patent ductus arteriosus  (IAGP)
Periventricular heterotopia  (IAGP)
Polyhydramnios  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent nose  (IAGP)
Prominent occiput  (IAGP)
Pulmonary hypoplasia  (IAGP)
Radioulnar synostosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Retinal arterial tortuosity  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe short stature  (IAGP)
Short palm  (IAGP)
Short palpebral fissure  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Sloping forehead  (IAGP)
Small scrotum  (IAGP)
Sparse scalp hair  (IAGP)
Specific learning disability  (IAGP)
Submucous cleft hard palate  (IAGP)
Talipes equinovarus  (IAGP)
Thin corpus callosum  (IAGP)
Thin upper lip vermilion  (IAGP)
Thyroid agenesis  (IAGP)
Thyroid dysgenesis  (IAGP)
Thyroid hypoplasia  (IAGP)
Ventricular septal defect  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Clayton-Smith J, etal., Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008.
2. Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. Kraft M, etal., J Clin Invest. 2011 Sep;121(9):3479-91. doi: 10.1172/JCI43428. Epub 2011 Aug 1.
3. Identification of novel loci for bipolar I disorder in a multi-stage genome-wide association study. Kuo PH, etal., Prog Neuropsychopharmacol Biol Psychiatry. 2014 Jun 3;51:58-64. doi: 10.1016/j.pnpbp.2014.01.003. Epub 2014 Jan 18.
4. Can unknown predisposition in familial breast cancer be family-specific? Lynch H, etal., Breast J. 2013 Sep-Oct;19(5):520-8. doi: 10.1111/tbj.12145. Epub 2013 Jun 26.
5. Uterine leiomyomata with t(10;17) disrupt the histone acetyltransferase MORF. Moore SD, etal., Cancer Res. 2004 Aug 15;64(16):5570-7.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. 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.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. Simpson MA, etal., Am J Hum Genet. 2012 Feb 10;90(2):290-4. doi: 10.1016/j.ajhg.2011.11.024. Epub 2012 Jan 19.
Additional References at PubMed
PMID:9205841   PMID:10497217   PMID:11157802   PMID:11965546   PMID:12168954   PMID:12477932   PMID:15271374   PMID:15302935   PMID:15489334   PMID:15561718   PMID:16096645   PMID:16344560  
PMID:16385451   PMID:16387653   PMID:16713569   PMID:17081983   PMID:17182677   PMID:17460191   PMID:17980037   PMID:18029348   PMID:18794358   PMID:20379614   PMID:21873635   PMID:21880731  
PMID:22265014   PMID:22715153   PMID:22747683   PMID:23063713   PMID:23236640   PMID:23436491   PMID:24150941   PMID:24294372   PMID:24458743   PMID:24698832   PMID:24981860   PMID:25424711  
PMID:25840828   PMID:26208904   PMID:26334766   PMID:26496610   PMID:27185879   PMID:27447113   PMID:27452416   PMID:27880066   PMID:28286003   PMID:28514442   PMID:28611215   PMID:28696035  
PMID:29226580   PMID:29507755   PMID:29509190   PMID:30021884   PMID:30404004   PMID:30569622   PMID:30921092   PMID:31624313   PMID:31753913   PMID:32424177   PMID:32448279   PMID:32722658  
PMID:33136874   PMID:33961781   PMID:34464167   PMID:34519438   PMID:34857952   PMID:35271311   PMID:35575789   PMID:36639835   PMID:36754959   PMID:37288707   PMID:37646730   PMID:37658610  


Genomics

Comparative Map Data
KAT6B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381074,824,936 - 75,032,624 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1074,824,927 - 75,032,624 (+)EnsemblGRCh38hg38GRCh38
GRCh371076,585,013 - 76,792,382 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361076,256,385 - 76,462,645 (+)NCBINCBI36Build 36hg18NCBI36
Build 341076,268,463 - 76,460,810NCBI
Celera1069,874,402 - 70,080,888 (+)NCBICelera
Cytogenetic Map10q22.2NCBI
HuRef1070,584,503 - 70,790,954 (+)NCBIHuRef
CHM1_11076,868,040 - 77,074,125 (+)NCBICHM1_1
T2T-CHM13v2.01075,698,186 - 75,906,154 (+)NCBIT2T-CHM13v2.0
Kat6b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391421,549,284 - 21,722,546 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1421,531,502 - 21,722,546 (+)EnsemblGRCm39 Ensembl
GRCm381421,499,216 - 21,672,478 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1421,481,434 - 21,672,478 (+)EnsemblGRCm38mm10GRCm38
MGSCv371422,319,076 - 22,491,355 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361420,288,420 - 20,460,685 (+)NCBIMGSCv36mm8
Celera1417,881,664 - 18,055,053 (+)NCBICelera
Cytogenetic Map14A3NCBI
cM Map1411.73NCBI
Kat6b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8152,688,535 - 2,861,443 (-)NCBIGRCr8
mRatBN7.2152,638,885 - 2,811,977 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl152,639,200 - 2,812,316 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0152,811,933 - 2,966,833 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl152,813,537 - 2,966,576 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0152,792,817 - 2,960,466 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera151,779,554 - 1,945,321 (+)NCBICelera
Cytogenetic Map15p16NCBI
KAT6B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2886,982,465 - 87,189,469 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11086,987,799 - 87,194,794 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01071,354,585 - 71,561,572 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11074,020,143 - 74,225,546 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1074,035,496 - 74,223,975 (+)Ensemblpanpan1.1panPan2
KAT6B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1425,131,580 - 25,303,355 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl425,131,844 - 25,301,825 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha425,253,256 - 25,438,393 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0425,399,632 - 25,585,839 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl425,400,521 - 25,584,563 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1425,295,642 - 25,481,027 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0425,495,394 - 25,681,653 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0425,850,710 - 26,037,089 (+)NCBIUU_Cfam_GSD_1.0
Kat6b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721355,816,974 - 56,005,037 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365214,309,694 - 4,496,904 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365214,309,699 - 4,497,755 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KAT6B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1477,404,136 - 77,597,673 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11477,390,790 - 77,597,674 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21483,529,553 - 83,722,784 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KAT6B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1956,340,579 - 56,525,809 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl956,340,026 - 56,536,512 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604816,828,363 - 17,063,158 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kat6b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247548,204,943 - 8,392,724 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247548,204,266 - 8,391,328 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KAT6B
1087 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012330.4(KAT6B):c.2589G>C (p.Gln863His) single nucleotide variant not provided [RCV000522455] Chr10:74989072 [GRCh38]
Chr10:76748830 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4602del (p.Met1535fs) deletion not provided [RCV000522270] Chr10:75029425 [GRCh38]
Chr10:76789183 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) duplication Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000023482]|not provided [RCV000128654] Chr10:75029228..75029229 [GRCh38]
Chr10:76788986..76788987 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs) duplication Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000023483]|not provided [RCV000128659] Chr10:75030192..75030193 [GRCh38]
Chr10:76789950..76789951 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
NM_012330.4(KAT6B):c.3018del (p.Glu1007fs) deletion Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000023484]|not provided [RCV000128643] Chr10:75021280 [GRCh38]
Chr10:76781038 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000023485]|not provided [RCV000128651] Chr10:75028893 [GRCh38]
Chr10:76788651 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
KAT6B, DEL/INS, NT4360 indel Genitopatellar syndrome [RCV000023486] Chr10:10q22 pathogenic
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) microsatellite Genitopatellar syndrome [RCV000023487]|Inborn genetic diseases [RCV001266158]|not provided [RCV000128645] Chr10:75028589..75028592 [GRCh38]
Chr10:76788351..76788354 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
KAT6B, 2-BP DEL, 3788AA deletion Genitopatellar syndrome [RCV000023488] Chr10:10q22 pathogenic
NM_012330.4(KAT6B):c.3892G>T (p.Gly1298Ter) single nucleotide variant Genitopatellar syndrome [RCV000023489]|not provided [RCV000128650] Chr10:75028716 [GRCh38]
Chr10:76788474 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
NM_012330.4(KAT6B):c.3802G>T (p.Gly1268Ter) single nucleotide variant Genitopatellar syndrome [RCV000023490]|not provided [RCV000128648] Chr10:75028626 [GRCh38]
Chr10:76788384 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
KAT6B, 4-BP DEL, NT1227 deletion Genitopatellar syndrome [RCV000023491] Chr10:10q22 pathogenic
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) microsatellite Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000032258]|Genitopatellar syndrome [RCV000641704]|Genitopatellar syndrome [RCV001194640]|Genitopatellar syndrome [RCV002054533]|Inborn genetic diseases [RCV000623297]|not provided [RCV000128652] Chr10:75029027..75029028 [GRCh38]
Chr10:76788785..76788786 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) duplication Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000032259]|not provided [RCV000128657] Chr10:75030015..75030016 [GRCh38]
Chr10:76789773..76789774 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
NM_012330.4(KAT6B):c.3349C>T (p.Gln1117Ter) single nucleotide variant Intellectual disability [RCV001257637]|not provided [RCV000522574] Chr10:75022208 [GRCh38]
Chr10:76781966 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3358G>T (p.Ala1120Ser) single nucleotide variant Genitopatellar syndrome [RCV003530199]|not provided [RCV001571888] Chr10:75022217 [GRCh38]
Chr10:76781975 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001331762]|Genitopatellar syndrome [RCV001264410]|Genitopatellar syndrome [RCV001382788]|KAT6B-related condition [RCV003403440]|not provided [RCV000627378] Chr10:75022031 [GRCh38]
Chr10:76781789 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3253del (p.Glu1085fs) deletion Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV002283500]|not provided [RCV000627587] Chr10:75022111 [GRCh38]
Chr10:76781869 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.5243T>C (p.Val1748Ala) single nucleotide variant not provided [RCV000519002] Chr10:75030067 [GRCh38]
Chr10:76789825 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5813C>T (p.Thr1938Ile) single nucleotide variant Genitopatellar syndrome [RCV001323839]|not provided [RCV000522706] Chr10:75030637 [GRCh38]
Chr10:76790395 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3827C>T (p.Pro1276Leu) single nucleotide variant Ependymoma [RCV000577840] Chr10:75028651 [GRCh38]
Chr10:76788409 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs) indel Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000043511] Chr10:75029888..75029895 [GRCh38]
Chr10:76789646..76789653 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000043512]|Genitopatellar syndrome [RCV001380964]|not provided [RCV000128660] Chr10:75030213 [GRCh38]
Chr10:76789971 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1 copy number loss See cases [RCV000052531] Chr10:72720628..75612374 [GRCh38]
Chr10:74480386..77372132 [GRCh37]
Chr10:74150392..77042138 [NCBI36]
Chr10:10q22.1-22.2		 pathogenic
NM_012330.4(KAT6B):c.5723C>T (p.Ser1908Phe) single nucleotide variant not provided [RCV000521521] Chr10:75030547 [GRCh38]
Chr10:76790305 [GRCh37]
Chr10:76460311 [NCBI36]
Chr10:10q22.2		 uncertain significance|not provided
NM_012330.3(KAT6B):c.4366C>T (p.Gln1456Ter) single nucleotide variant Malignant melanoma [RCV000062076] Chr10:75029190 [GRCh38]
Chr10:76788948 [GRCh37]
Chr10:76458954 [NCBI36]
Chr10:10q22.2		 not provided
NM_012330.3(KAT6B):c.5621C>T (p.Ala1874Val) single nucleotide variant Lung cancer [RCV000109335] Chr10:75030445 [GRCh38]
Chr10:76790203 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2486T>A (p.Leu829His) single nucleotide variant not provided [RCV000122533] Chr10:74985192 [GRCh38]
Chr10:76744950 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=) single nucleotide variant Genitopatellar syndrome [RCV002065387]|Genitopatellar syndrome [RCV002491270]|not specified [RCV000602718] Chr10:74976119 [GRCh38]
Chr10:76735877 [GRCh37]
Chr10:10q22.2		 likely benign
NM_001256468.1:c.4652_4661ins insertion Young Simpson syndrome [RCV000234872] Chr10:10q22.2 pathogenic
NM_012330.4(KAT6B):c.4102dup (p.Glu1368fs) duplication Inborn genetic diseases [RCV000190717] Chr10:75028924..75028925 [GRCh38]
Chr10:76788682..76788683 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.6001A>G (p.Met2001Val) single nucleotide variant Genitopatellar syndrome [RCV003104325]|not provided [RCV003149063] Chr10:75030825 [GRCh38]
Chr10:76790583 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.3(KAT6B):c.3018delA (p.Glu1007Argfs) deletion not provided [RCV000128643] Chr10:75021282 [GRCh38]
Chr10:76781040 [GRCh37]
Chr10:10q22.2		 not provided
NM_012330.3(KAT6B):c.3681_3696del16 (p.Asp1227Glufs) deletion Genitopatellar syndrome [RCV000023491]|not provided [RCV000128644] Chr10:75028504..75028519 [GRCh38]
Chr10:76788262..76788277 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
NM_012330.4(KAT6B):c.3773dup (p.Trp1259fs) duplication not provided [RCV000128646] Chr10:75028595..75028596 [GRCh38]
Chr10:76788353..76788354 [GRCh37]
Chr10:10q22.2		 not provided
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs) deletion Genitopatellar syndrome [RCV000023488]|Inborn genetic diseases [RCV001267611]|not provided [RCV000128647] Chr10:75028611..75028612 [GRCh38]
Chr10:76788369..76788370 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
NM_012330.4(KAT6B):c.3877A>T (p.Lys1293Ter) single nucleotide variant not provided [RCV000128649] Chr10:75028701 [GRCh38]
Chr10:76788459 [GRCh37]
Chr10:10q22.2		 not provided
NM_012330.4(KAT6B):c.4360_4368delinsAAAAACCAAAA (p.Glu1454fs) indel Genitopatellar syndrome [RCV000023486]|not provided [RCV000128653] Chr10:75029184..75029192 [GRCh38]
Chr10:76788942..76788950 [GRCh37]
Chr10:10q22.2		 pathogenic|not provided
NM_012330.3(KAT6B):c.4405dupT (p.Ser1469Phefs) duplication not provided [RCV000128654] Chr10:75029229 [GRCh38]
Chr10:76788987 [GRCh37]
Chr10:10q22.2		 not provided
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs) microsatellite Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV003319322]|not provided [RCV000128655] Chr10:75029724..75029734 [GRCh38]
Chr10:76789482..76789492 [GRCh37]
Chr10:10q22.2		 pathogenic|likely pathogenic|not provided
NM_012330.4(KAT6B):c.5030del (p.Thr1677fs) deletion not provided [RCV000128656] Chr10:75029854 [GRCh38]
Chr10:76789612 [GRCh37]
Chr10:10q22.2		 not provided
NM_012330.4(KAT6B):c.527dup (p.Tyr176Ter) duplication not provided [RCV000128658] Chr10:74843383..74843384 [GRCh38]
Chr10:76603141..76603142 [GRCh37]
Chr10:10q22.2		 not provided
NM_012330.3(KAT6B):c.5370_5373dupCAAC (p.Ile1792Glnfs) duplication not provided [RCV000128659] Chr10:75030194..75030197 [GRCh38]
Chr10:76789952..76789955 [GRCh37]
Chr10:10q22.2		 not provided
NM_012330.4(KAT6B):c.5734A>T (p.Arg1912Ter) single nucleotide variant not provided [RCV000128661] Chr10:75030558 [GRCh38]
Chr10:76790316 [GRCh37]
Chr10:10q22.2		 not provided
GRCh38/hg38 10q22.2(chr10:74753051-74825845)x1 copy number loss See cases [RCV000135162] Chr10:74753051..74825845 [GRCh38]
Chr10:76512809..76643827 [GRCh37]
Chr10:76182815..76313833 [NCBI36]
Chr10:10q22.2		 likely benign
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) microsatellite Genitopatellar syndrome [RCV000536630]|not provided [RCV001651058]|not specified [RCV000192498] Chr10:75022148..75022150 [GRCh38]
Chr10:76781906..76781908 [GRCh37]
Chr10:10q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012330.4(KAT6B):c.257del (p.Gly86fs) deletion not provided [RCV000255091] Chr10:74843113 [GRCh38]
Chr10:76602871 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs) deletion Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000195677] Chr10:75028786..75028787 [GRCh38]
Chr10:76788544..76788545 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr) single nucleotide variant Genitopatellar syndrome [RCV002507321]|not provided [RCV000756279] Chr10:75030312 [GRCh38]
Chr10:76790070 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3238G>A (p.Glu1080Lys) single nucleotide variant not provided [RCV000756280] Chr10:75022097 [GRCh38]
Chr10:76781855 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3264dup (p.Glu1089fs) duplication Inborn genetic diseases [RCV000210551] Chr10:75022121..75022122 [GRCh38]
Chr10:76781879..76781880 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.3(KAT6B):c.3235_3246delGAGGAGGAAGAA (p.Glu1086_Glu1089del) deletion not provided [RCV000224194] Chr10:75022094..75022105 [GRCh38]
Chr10:76781852..76781863 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.2248C>A (p.Leu750Met) single nucleotide variant not provided [RCV000224438] Chr10:74981803 [GRCh38]
Chr10:76741561 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.3(KAT6B):c.4078_4086delGAAGAGGAA (p.Glu1366_Glu1368del) deletion not provided [RCV000224910] Chr10:75028902..75028910 [GRCh38]
Chr10:76788660..76788668 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.625C>T (p.Arg209Cys) single nucleotide variant Genitopatellar syndrome [RCV001869028]|not provided [RCV000757417] Chr10:74959973 [GRCh38]
Chr10:76719731 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) single nucleotide variant Genitopatellar syndrome [RCV001518707]|not provided [RCV000680343]|not specified [RCV000245990] Chr10:75029319 [GRCh38]
Chr10:76789077 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.5749A>G (p.Ile1917Val) single nucleotide variant Genitopatellar syndrome [RCV001305243]|Inborn genetic diseases [RCV002518641]|not provided [RCV001594908]|not specified [RCV000253765] Chr10:75030573 [GRCh38]
Chr10:76790331 [GRCh37]
Chr10:10q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012330.4(KAT6B):c.3649G>T (p.Ala1217Ser) single nucleotide variant Genitopatellar syndrome [RCV000874009]|not specified [RCV000251489] Chr10:75025234 [GRCh38]
Chr10:76784992 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup) microsatellite Genitopatellar syndrome [RCV001033983]|not provided [RCV001529580]|not specified [RCV000246745] Chr10:75022147..75022148 [GRCh38]
Chr10:76781905..76781906 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.858T>C (p.Leu286=) single nucleotide variant not specified [RCV000246875] Chr10:74970031 [GRCh38]
Chr10:76729789 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del) microsatellite Genitopatellar syndrome [RCV001080347]|Intellectual disability [RCV001252019]|not provided [RCV000224194]|not specified [RCV000251797] Chr10:75022094..75022105 [GRCh38]
Chr10:76781852..76781863 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.4278C>T (p.Ala1426=) single nucleotide variant Genitopatellar syndrome [RCV001516092]|not provided [RCV000680342]|not specified [RCV000254185] Chr10:75029102 [GRCh38]
Chr10:76788860 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.846+16G>A single nucleotide variant Genitopatellar syndrome [RCV002503942]|Genitopatellar syndrome [RCV002519929]|not specified [RCV000242075] Chr10:74969791 [GRCh38]
Chr10:76729549 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) microsatellite Genitopatellar syndrome [RCV000988391]|not provided [RCV000224910]|not specified [RCV000244637] Chr10:75028902..75028910 [GRCh38]
Chr10:76788679..76788687 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) deletion Genitopatellar syndrome [RCV000576394]|Genitopatellar syndrome [RCV001519836]|not provided [RCV000873641]|not specified [RCV000247057] Chr10:75022079..75022090 [GRCh38]
Chr10:76781837..76781848 [GRCh37]
Chr10:10q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) microsatellite Genitopatellar syndrome [RCV001081925]|Inborn genetic diseases [RCV002518640]|KAT6B-related condition [RCV003891942]|not provided [RCV000443242]|not specified [RCV000249396] Chr10:75028901..75028902 [GRCh38]
Chr10:76788659..76788660 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.2448G>A (p.Thr816=) single nucleotide variant Genitopatellar syndrome [RCV002058235]|not provided [RCV000509279]|not specified [RCV000242268] Chr10:74985154 [GRCh38]
Chr10:76744912 [GRCh37]
Chr10:10q22.2		 likely benign|not provided
NM_012330.4(KAT6B):c.4092_4094del (p.Glu1368del) deletion not specified [RCV000254483] Chr10:75028914..75028916 [GRCh38]
Chr10:76788672..76788674 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1798C>T (p.His600Tyr) single nucleotide variant Genitopatellar syndrome [RCV003530027]|Inborn genetic diseases [RCV002518639]|not provided [RCV001576470]|not specified [RCV000247361] Chr10:74976135 [GRCh38]
Chr10:76735893 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1062-16C>G single nucleotide variant Genitopatellar syndrome [RCV003530026]|not specified [RCV000242643] Chr10:74975383 [GRCh38]
Chr10:76735141 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6162C>T (p.His2054=) single nucleotide variant Genitopatellar syndrome [RCV001516906]|Genitopatellar syndrome [RCV002479968]|not provided [RCV001683066]|not specified [RCV000250334] Chr10:75030986 [GRCh38]
Chr10:76790744 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.5967C>T (p.Leu1989=) single nucleotide variant Genitopatellar syndrome [RCV002058236]|not provided [RCV001594909]|not specified [RCV000245596] Chr10:75030791 [GRCh38]
Chr10:76790549 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del) microsatellite Genitopatellar syndrome [RCV000988389]|Genitopatellar syndrome [RCV002494745]|not provided [RCV001535349]|not specified [RCV000248079] Chr10:75028887..75028892 [GRCh38]
Chr10:76788656..76788661 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.1887C>T (p.His629=) single nucleotide variant Genitopatellar syndrome [RCV002058234]|not specified [RCV000250511] Chr10:74976224 [GRCh38]
Chr10:76735982 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=) single nucleotide variant Genitopatellar syndrome [RCV001476390]|Genitopatellar syndrome [RCV002487133]|not provided [RCV001697601]|not specified [RCV000243332] Chr10:75028541 [GRCh38]
Chr10:76788299 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=) single nucleotide variant Genitopatellar syndrome [RCV001521387]|Genitopatellar syndrome [RCV002487134]|not provided [RCV001689862]|not specified [RCV000250732] Chr10:75030179 [GRCh38]
Chr10:76789937 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys) single nucleotide variant Genitopatellar syndrome [RCV001335576]|Genitopatellar syndrome [RCV002487342] Chr10:75029658 [GRCh38]
Chr10:76789416 [GRCh37]
Chr10:10q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val) single nucleotide variant Genitopatellar syndrome [RCV001335573]|Genitopatellar syndrome [RCV002487341] Chr10:74975776 [GRCh38]
Chr10:76735534 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1675A>G (p.Lys559Glu) single nucleotide variant Genitopatellar syndrome [RCV002885613] Chr10:74976012 [GRCh38]
Chr10:76735770 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=) single nucleotide variant Genitopatellar syndrome [RCV001513301]|Genitopatellar syndrome [RCV002502198]|not provided [RCV001653478] Chr10:75028904 [GRCh38]
Chr10:76788662 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.3246A>G (p.Glu1082=) single nucleotide variant Genitopatellar syndrome [RCV002928932] Chr10:75022105 [GRCh38]
Chr10:76781863 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.*230A>G single nucleotide variant not provided [RCV001577159] Chr10:75031276 [GRCh38]
Chr10:76791034 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=) single nucleotide variant Genitopatellar syndrome [RCV001523263]|Genitopatellar syndrome [RCV002504059]|not specified [RCV000605387] Chr10:75029231 [GRCh38]
Chr10:76788989 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=) single nucleotide variant Genitopatellar syndrome [RCV002073235]|Genitopatellar syndrome [RCV002503148]|not provided [RCV001688169] Chr10:75030872 [GRCh38]
Chr10:76790630 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.1536G>A (p.Thr512=) single nucleotide variant Genitopatellar syndrome [RCV002910154] Chr10:74975873 [GRCh38]
Chr10:76735631 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.5512G>T (p.Ala1838Ser) single nucleotide variant not provided [RCV003131303] Chr10:75030336 [GRCh38]
Chr10:76790094 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.*1312C>T single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000398370] Chr10:75032358 [GRCh38]
Chr10:76792116 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1268C>G (p.Ser423Cys) single nucleotide variant Genitopatellar syndrome [RCV001056257]|not provided [RCV000994454] Chr10:74975605 [GRCh38]
Chr10:76735363 [GRCh37]
Chr10:10q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012330.4(KAT6B):c.3685A>G (p.Ser1229Gly) single nucleotide variant Genitopatellar syndrome [RCV002056134]|not provided [RCV000513906] Chr10:75028509 [GRCh38]
Chr10:76788267 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.699A>G (p.Glu233=) single nucleotide variant Genitopatellar syndrome [RCV002073117]|Genitopatellar syndrome [RCV002502012]|not provided [RCV001666344] Chr10:74960047 [GRCh38]
Chr10:76719805 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_001256468.1(KAT6B):c.-617G>A single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000271898] Chr10:74826497 [GRCh38]
Chr10:76586255 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5744C>T (p.Thr1915Ile) single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000351404] Chr10:75030568 [GRCh38]
Chr10:76790326 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His) single nucleotide variant Genitopatellar syndrome [RCV001513017]|KAT6B-related condition [RCV003930270]|not provided [RCV000438668] Chr10:75029659 [GRCh38]
Chr10:76789417 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.3231C>A (p.Asp1077Glu) single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000376409] Chr10:75022090 [GRCh38]
Chr10:76781848 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg) single nucleotide variant Genitopatellar syndrome [RCV001850591]|KAT6B-related condition [RCV003920236]|not provided [RCV001551300] Chr10:74975849 [GRCh38]
Chr10:76735607 [GRCh37]
Chr10:10q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001256468.1(KAT6B):c.-563G>A single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000329346] Chr10:74826551 [GRCh38]
Chr10:76586309 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3728A>G (p.Lys1243Arg) single nucleotide variant Genitopatellar syndrome [RCV002115002] Chr10:75028552 [GRCh38]
Chr10:76788310 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.1235A>G (p.Lys412Arg) single nucleotide variant Genitopatellar syndrome [RCV003646740] Chr10:74975572 [GRCh38]
Chr10:76735330 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.*1196A>C single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000291377] Chr10:75032242 [GRCh38]
Chr10:76792000 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3465A>G (p.Val1155=) single nucleotide variant Genitopatellar syndrome [RCV002900196]|not provided [RCV003883848] Chr10:75025050 [GRCh38]
Chr10:76784808 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2374-10T>C single nucleotide variant Genitopatellar syndrome [RCV002056133]|Genitopatellar syndrome [RCV002494944]|not provided [RCV001697739] Chr10:74985070 [GRCh38]
Chr10:76744828 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5809G>T (p.Ala1937Ser) single nucleotide variant Genitopatellar syndrome [RCV001202180] Chr10:75030633 [GRCh38]
Chr10:76790391 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5879C>T (p.Thr1960Met) single nucleotide variant Genitopatellar syndrome [RCV003869457] Chr10:75030703 [GRCh38]
Chr10:76790461 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4036G>T (p.Asp1346Tyr) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001198102]|Genitopatellar syndrome [RCV001514846]|not provided [RCV001597049] Chr10:75028860 [GRCh38]
Chr10:76788618 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001199254]|Genitopatellar syndrome [RCV001850592]|Seizure [RCV000626908] Chr10:74976264 [GRCh38]
Chr10:76736022 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001196726]|Genitopatellar syndrome [RCV001520896]|not provided [RCV001565764] Chr10:74976000 [GRCh38]
Chr10:76735758 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.3404G>A (p.Arg1135His) single nucleotide variant Genitopatellar syndrome [RCV003645935]|Inborn genetic diseases [RCV002808855] Chr10:75024989 [GRCh38]
Chr10:76784747 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn) single nucleotide variant Genitopatellar syndrome [RCV002496008]|Genitopatellar syndrome [RCV002538610]|not provided [RCV001694435] Chr10:75028553 [GRCh38]
Chr10:76788311 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.*628A>G single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000260950] Chr10:75031674 [GRCh38]
Chr10:76791432 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.*711G>C single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000294994] Chr10:75031757 [GRCh38]
Chr10:76791515 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4225G>A (p.Glu1409Lys) single nucleotide variant Genitopatellar syndrome [RCV002028140] Chr10:75029049 [GRCh38]
Chr10:76788807 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2629+9A>G single nucleotide variant Genitopatellar syndrome [RCV002957206] Chr10:74989121 [GRCh38]
Chr10:76748879 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) single nucleotide variant Genitopatellar syndrome [RCV001850590]|Genitopatellar syndrome [RCV002227470]|KAT6B-Related Spectrum Disorders [RCV000278639]|not provided [RCV001612948] Chr10:74843164 [GRCh38]
Chr10:76602922 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys) single nucleotide variant Genitopatellar syndrome [RCV001886898]|Genitopatellar syndrome [RCV002478260] Chr10:75028542 [GRCh38]
Chr10:76788300 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_012330.4(KAT6B):c.5601C>T (p.Ser1867=) single nucleotide variant Genitopatellar syndrome [RCV002952707] Chr10:75030425 [GRCh38]
Chr10:76790183 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2373+9G>A single nucleotide variant Genitopatellar syndrome [RCV002886706] Chr10:74981937 [GRCh38]
Chr10:76741695 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.*131T>A single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000362521] Chr10:75031177 [GRCh38]
Chr10:76790935 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.*325A>G single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000264438] Chr10:75031371 [GRCh38]
Chr10:76791129 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5385C>T (p.Tyr1795=) single nucleotide variant Genitopatellar syndrome [RCV002098295] Chr10:75030209 [GRCh38]
Chr10:76789967 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1025T>C (p.Ile342Thr) single nucleotide variant Genitopatellar syndrome [RCV002072985]|not provided [RCV001643855] Chr10:74972603 [GRCh38]
Chr10:76732361 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.109A>G (p.Ser37Gly) single nucleotide variant Genitopatellar syndrome [RCV003529906] Chr10:74842966 [GRCh38]
Chr10:76602724 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3231C>T (p.Asp1077=) single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000265936] Chr10:75022090 [GRCh38]
Chr10:76781848 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3762C>G (p.Arg1254=) single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000299105] Chr10:75028586 [GRCh38]
Chr10:76788344 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.375C>T (p.Ser125=) single nucleotide variant Genitopatellar syndrome [RCV001513016]|Genitopatellar syndrome [RCV002494943]|KAT6B-related condition [RCV003930268]|not provided [RCV000427991] Chr10:74843232 [GRCh38]
Chr10:76602990 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.1468C>T (p.Pro490Ser) single nucleotide variant Genitopatellar syndrome [RCV002073147]|KAT6B-related condition [RCV003910953]|not provided [RCV001671670] Chr10:74975805 [GRCh38]
Chr10:76735563 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.1565C>A (p.Ser522Tyr) single nucleotide variant Genitopatellar syndrome [RCV002158691]|KAT6B-related condition [RCV003896005] Chr10:74975902 [GRCh38]
Chr10:76735660 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=) single nucleotide variant Genitopatellar syndrome [RCV001465729]|Genitopatellar syndrome [RCV002502199]|not provided [RCV001707633] Chr10:75029435 [GRCh38]
Chr10:76789193 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_012330.4(KAT6B):c.929-12A>G single nucleotide variant Genitopatellar syndrome [RCV002056132]|Genitopatellar syndrome [RCV002480096]|not specified [RCV000605355] Chr10:74972495 [GRCh38]
Chr10:76732253 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3717C>T (p.Pro1239=) single nucleotide variant Genitopatellar syndrome [RCV001518940]|KAT6B-related condition [RCV003930269]|not provided [RCV003417976]|not specified [RCV000612542] Chr10:75028541 [GRCh38]
Chr10:76788299 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.5221A>G (p.Ser1741Gly) single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000281346] Chr10:75030045 [GRCh38]
Chr10:76789803 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3499_3500del (p.Arg1167fs) microsatellite not provided [RCV000321735] Chr10:75025080..75025081 [GRCh38]
Chr10:76784838..76784839 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001028070]|Intellectual disability [RCV001257725]|not provided [RCV000324613] Chr10:75022006 [GRCh38]
Chr10:76781764 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.-362C>T single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000275256] Chr10:74826752 [GRCh38]
Chr10:76586510 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5101C>T (p.Gln1701Ter) single nucleotide variant not provided [RCV000352615] Chr10:75029925 [GRCh38]
Chr10:76789683 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3918del (p.Ile1307fs) deletion not provided [RCV000391279] Chr10:75028741 [GRCh38]
Chr10:76788499 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.5251C>G (p.Pro1751Ala) single nucleotide variant not provided [RCV000328592] Chr10:75030075 [GRCh38]
Chr10:76789833 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3664+1G>A single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000408626]|Genitopatellar syndrome [RCV003152705] Chr10:75025250 [GRCh38]
Chr10:76785008 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.1770_1773del (p.Arg591fs) deletion not provided [RCV000519884] Chr10:74976106..74976109 [GRCh38]
Chr10:76735864..76735867 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.1365T>G (p.Ile455Met) single nucleotide variant not provided [RCV003223855] Chr10:74975702 [GRCh38]
Chr10:76735460 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3273_3275del (p.Glu1104del) deletion Intellectual disability [RCV001252014]|not provided [RCV000722189] Chr10:75022130..75022132 [GRCh38]
Chr10:76781888..76781890 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3289G>A (p.Glu1097Lys) single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000345337] Chr10:75022148 [GRCh38]
Chr10:76781906 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3287A>C (p.Glu1096Ala) single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000380341] Chr10:75022146 [GRCh38]
Chr10:76781904 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.*1203dup duplication KAT6B-Related Spectrum Disorders [RCV000331159] Chr10:75032241..75032242 [GRCh38]
Chr10:76791999..76792000 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.*1235T>C single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000346266] Chr10:75032281 [GRCh38]
Chr10:76792039 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.*643del deletion KAT6B-Related Spectrum Disorders [RCV000316139] Chr10:75031686 [GRCh38]
Chr10:76791444 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.846+2dup duplication not provided [RCV000520640] Chr10:74969776..74969777 [GRCh38]
Chr10:76729534..76729535 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.-245A>C single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000332781] Chr10:74842613 [GRCh38]
Chr10:76602371 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.*332C>T single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000319578] Chr10:75031378 [GRCh38]
Chr10:76791136 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3033A>G (p.Leu1011=) single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000319394] Chr10:75021892 [GRCh38]
Chr10:76781650 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.-424_-419dup duplication KAT6B-Related Spectrum Disorders [RCV000367574] Chr10:74826685..74826686 [GRCh38]
Chr10:76586443..76586444 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.*1200_*1203del deletion KAT6B-Related Spectrum Disorders [RCV000385683] Chr10:75032242..75032245 [GRCh38]
Chr10:76792000..76792003 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.*144del deletion KAT6B-Related Spectrum Disorders [RCV000406185]|not provided [RCV001683213] Chr10:75031178 [GRCh38]
Chr10:76790936 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.*45T>C single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000307791] Chr10:75031091 [GRCh38]
Chr10:76790849 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.*698A>C single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000389296] Chr10:75031744 [GRCh38]
Chr10:76791502 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.*1459C>T single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000287019] Chr10:75032505 [GRCh38]
Chr10:76792263 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.*538C>G single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000355769] Chr10:75031584 [GRCh38]
Chr10:76791342 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.*287C>T single nucleotide variant KAT6B-Related Spectrum Disorders [RCV000359143] Chr10:75031333 [GRCh38]
Chr10:76791091 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3249GGA[1] (p.Glu1089del) microsatellite Genitopatellar syndrome [RCV001392161]|not provided [RCV001719057] Chr10:75022106..75022108 [GRCh38]
Chr10:76781864..76781866 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.1387C>T (p.Arg463Cys) single nucleotide variant Genitopatellar syndrome [RCV003530087]|not provided [RCV000592199] Chr10:74975724 [GRCh38]
Chr10:76735482 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3343A>C (p.Lys1115Gln) single nucleotide variant not specified [RCV001170014] Chr10:75022202 [GRCh38]
Chr10:76781960 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=) single nucleotide variant Genitopatellar syndrome [RCV002498956]|Genitopatellar syndrome [RCV002531619]|KAT6B-related condition [RCV003905634]|not provided [RCV001707828] Chr10:75029936 [GRCh38]
Chr10:76789694 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5254C>T (p.Gln1752Ter) single nucleotide variant not provided [RCV000578526] Chr10:75030078 [GRCh38]
Chr10:76789836 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4109AAG[5] (p.Glu1373dup) microsatellite Genitopatellar syndrome [RCV001034428]|KAT6B-related condition [RCV003935631]|not provided [RCV000598969] Chr10:75028931..75028932 [GRCh38]
Chr10:76788689..76788690 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_012330.4(KAT6B):c.5594_5601dup (p.Val1868fs) duplication not provided [RCV000599006] Chr10:75030416..75030417 [GRCh38]
Chr10:76790174..76790175 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.5425C>T (p.Pro1809Ser) single nucleotide variant not provided [RCV000521898] Chr10:75030249 [GRCh38]
Chr10:76790007 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000723353] Chr10:75030499 [GRCh38]
Chr10:76790257 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4379del (p.Phe1459_Leu1460insTer) deletion not provided [RCV000414571] Chr10:75029198 [GRCh38]
Chr10:76788956 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.365A>G (p.Asn122Ser) single nucleotide variant Genitopatellar syndrome [RCV002531041]|not provided [RCV000595431] Chr10:74843222 [GRCh38]
Chr10:76602980 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.3154_3169del (p.Arg1052fs) deletion TWIST1-related craniosynostosis [RCV000415232] Chr10:75022013..75022028 [GRCh38]
Chr10:76781771..76781786 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1800CTC[3] (p.Ser605del) microsatellite KAT6B-related condition [RCV003411661]|not provided [RCV000722236] Chr10:74976137..74976139 [GRCh38]
Chr10:76735895..76735897 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met) single nucleotide variant Genitopatellar syndrome [RCV002506001]|Genitopatellar syndrome [RCV002524637]|Intellectual disability [RCV001255081]|KAT6B-related condition [RCV003922674]|not provided [RCV003418093]|not specified [RCV000413450] Chr10:75022200 [GRCh38]
Chr10:76781958 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.5486A>T (p.Asp1829Val) single nucleotide variant not provided [RCV000522886] Chr10:75030310 [GRCh38]
Chr10:76790068 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)x1 copy number loss See cases [RCV000447510] Chr10:75542067..79428995 [GRCh37]
Chr10:10q22.2-22.3		 pathogenic
NM_012330.4(KAT6B):c.5592T>C (p.Ser1864=) single nucleotide variant not provided [RCV000435114] Chr10:75030416 [GRCh38]
Chr10:76790174 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3216del (p.Glu1073fs) deletion Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000505202] Chr10:75022074 [GRCh38]
Chr10:76781832 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3021+1G>T single nucleotide variant not provided [RCV000430156] Chr10:75021286 [GRCh38]
Chr10:76781044 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.839G>A (p.Arg280Lys) single nucleotide variant Genitopatellar syndrome [RCV002058877]|not provided [RCV000433790] Chr10:74969768 [GRCh38]
Chr10:76729526 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.3907A>G (p.Ser1303Gly) single nucleotide variant not provided [RCV000436722] Chr10:75028731 [GRCh38]
Chr10:76788489 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3544G>A (p.Glu1182Lys) single nucleotide variant Intellectual disability, autosomal dominant [RCV000427115] Chr10:75025129 [GRCh38]
Chr10:76784887 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.355G>C (p.Glu119Gln) single nucleotide variant not provided [RCV000441047] Chr10:74843212 [GRCh38]
Chr10:76602970 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_012330.4(KAT6B):c.2833C>T (p.Leu945Phe) single nucleotide variant Genitopatellar syndrome [RCV001865491]|Inborn genetic diseases [RCV003168985]|not provided [RCV000483917] Chr10:75020785 [GRCh38]
Chr10:76780543 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3286G>T (p.Glu1096Ter) single nucleotide variant not provided [RCV000484958] Chr10:75022145 [GRCh38]
Chr10:76781903 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3401del (p.Gly1134fs) deletion not provided [RCV000478847] Chr10:75024983 [GRCh38]
Chr10:76784741 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.708_709del (p.Ala238fs) deletion not provided [RCV000479882] Chr10:74960056..74960057 [GRCh38]
Chr10:76719814..76719815 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.6014G>A (p.Gly2005Asp) single nucleotide variant Genitopatellar syndrome [RCV001857016]|Genitopatellar syndrome [RCV002506203]|not provided [RCV000497400] Chr10:75030838 [GRCh38]
Chr10:76790596 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1454A>G (p.Gln485Arg) single nucleotide variant not provided [RCV000498020] Chr10:74975791 [GRCh38]
Chr10:76735549 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg) single nucleotide variant Genitopatellar syndrome [RCV002506198]|Genitopatellar syndrome [RCV003645859]|not provided [RCV000494241] Chr10:74977421 [GRCh38]
Chr10:76737179 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.782C>T (p.Ala261Val) single nucleotide variant Genitopatellar syndrome [RCV003530060]|not specified [RCV000507000] Chr10:74969711 [GRCh38]
Chr10:76729469 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4461_4464del (p.Glu1488fs) deletion KAT6B-Related Spectrum Disorders [RCV000578421] Chr10:75029283..75029286 [GRCh38]
Chr10:76789041..76789044 [GRCh37]
Chr10:10q22.2		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile) single nucleotide variant Genitopatellar syndrome [RCV002496967]|Genitopatellar syndrome [RCV002527358]|not specified [RCV000507926] Chr10:75029631 [GRCh38]
Chr10:76789389 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_012330.4(KAT6B):c.4584del (p.Glu1529fs) deletion Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000578470] Chr10:75029406 [GRCh38]
Chr10:76789164 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile) single nucleotide variant Cryptorchidism [RCV000626910]|not provided [RCV001764744] Chr10:75030037 [GRCh38]
Chr10:76789795 [GRCh37]
Chr10:10q22.2		 likely pathogenic|uncertain significance
NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys) single nucleotide variant Genitopatellar syndrome [RCV000767999] Chr10:75030773 [GRCh38]
Chr10:76790531 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.-278C>T single nucleotide variant not specified [RCV000607073] Chr10:74838733 [GRCh38]
Chr10:76598491 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) deletion Epicanthus [RCV000626909] Chr10:75024984..75024987 [GRCh38]
Chr10:76784742..76784745 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3312_3314del (p.Glu1104_Asn1105delinsAsp) deletion Inborn genetic diseases [RCV003280003] Chr10:75022170..75022172 [GRCh38]
Chr10:76781928..76781930 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4065GGA[6] (p.Glu1368dup) microsatellite Genitopatellar syndrome [RCV002531507]|not specified [RCV000616199] Chr10:75028886..75028887 [GRCh38]
Chr10:76788644..76788645 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3123G>C (p.Ser1041=) single nucleotide variant not specified [RCV000613165] Chr10:75021982 [GRCh38]
Chr10:76781740 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1011A>T (p.Arg337=) single nucleotide variant Genitopatellar syndrome [RCV002529724]|not specified [RCV000616326] Chr10:74972589 [GRCh38]
Chr10:76732347 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3851_3858del (p.Asp1284fs) deletion not provided [RCV000627489] Chr10:75028674..75028681 [GRCh38]
Chr10:76788432..76788439 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.840A>G (p.Arg280=) single nucleotide variant not specified [RCV000611388] Chr10:74969769 [GRCh38]
Chr10:76729527 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4632C>T (p.Ala1544=) single nucleotide variant not specified [RCV000614554] Chr10:75029456 [GRCh38]
Chr10:76789214 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.*6G>A single nucleotide variant not provided [RCV003313386] Chr10:75031052 [GRCh38]
Chr10:76790810 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.801C>T (p.Ile267=) single nucleotide variant Genitopatellar syndrome [RCV003645863]|not specified [RCV000609081] Chr10:74969730 [GRCh38]
Chr10:76729488 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4312G>A (p.Glu1438Lys) single nucleotide variant Genitopatellar syndrome [RCV002064210]|not specified [RCV000604781] Chr10:75029136 [GRCh38]
Chr10:76788894 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.4647C>G (p.Thr1549=) single nucleotide variant not specified [RCV000600281] Chr10:75029471 [GRCh38]
Chr10:76789229 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1282A>C (p.Asn428His) single nucleotide variant Genitopatellar syndrome [RCV002481650]|Genitopatellar syndrome [RCV003114640]|not provided [RCV000513266] Chr10:74975619 [GRCh38]
Chr10:76735377 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_012330.4(KAT6B):c.5302C>A (p.Gln1768Lys) single nucleotide variant not provided [RCV000658568] Chr10:75030126 [GRCh38]
Chr10:76789884 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4554_4555dup (p.Asn1519fs) duplication Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000677648] Chr10:75029376..75029377 [GRCh38]
Chr10:76789134..76789135 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.2116-9A>G single nucleotide variant Genitopatellar syndrome [RCV000767997]|Genitopatellar syndrome [RCV003645875] Chr10:74979215 [GRCh38]
Chr10:76738973 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3581del (p.Gln1194fs) deletion Genitopatellar syndrome [RCV000680015]|KAT6B-realted disoder [RCV002245583] Chr10:75025166 [GRCh38]
Chr10:76784924 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3256G>T (p.Glu1086Ter) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000677647] Chr10:75022115 [GRCh38]
Chr10:76781873 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.621+246C>T single nucleotide variant not provided [RCV000680910] Chr10:74843724 [GRCh38]
Chr10:76603482 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.730+245C>T single nucleotide variant not provided [RCV000680912] Chr10:74960323 [GRCh38]
Chr10:76720081 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.846+99C>T single nucleotide variant not provided [RCV000680909] Chr10:74969874 [GRCh38]
Chr10:76729632 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.622-49C>A single nucleotide variant not provided [RCV000680908] Chr10:74959921 [GRCh38]
Chr10:76719679 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.929-232C>T single nucleotide variant not provided [RCV000680946] Chr10:74972275 [GRCh38]
Chr10:76732033 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.730+204T>C single nucleotide variant not provided [RCV000680911] Chr10:74960282 [GRCh38]
Chr10:76720040 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.2630-218C>T single nucleotide variant not provided [RCV000680947] Chr10:75020364 [GRCh38]
Chr10:76780122 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2861+27C>T single nucleotide variant not provided [RCV000680990] Chr10:75020840 [GRCh38]
Chr10:76780598 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del) microsatellite Genitopatellar syndrome [RCV000767998]|Genitopatellar syndrome [RCV001436261]|Inborn genetic diseases [RCV002544700]|KAT6B-related condition [RCV003907941]|not provided [RCV000680949] Chr10:75028887..75028889 [GRCh38]
Chr10:76788645..76788647 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_012330.4(KAT6B):c.4879G>A (p.Ala1627Thr) single nucleotide variant Genitopatellar syndrome [RCV002485571]|not provided [RCV000681130] Chr10:75029703 [GRCh38]
Chr10:76789461 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5041G>A (p.Glu1681Lys) single nucleotide variant Developmental disorder [RCV003762856]|not provided [RCV000681059] Chr10:75029865 [GRCh38]
Chr10:76789623 [GRCh37]
Chr10:10q22.2		 likely pathogenic|uncertain significance
NM_012330.4(KAT6B):c.3118C>T (p.Gln1040Ter) single nucleotide variant not provided [RCV000681312] Chr10:75021977 [GRCh38]
Chr10:76781735 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.933G>A (p.Met311Ile) single nucleotide variant not provided [RCV000681066] Chr10:74972511 [GRCh38]
Chr10:76732269 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1685A>G (p.His562Arg) single nucleotide variant Genitopatellar syndrome [RCV002493125]|not provided [RCV000681091] Chr10:74976022 [GRCh38]
Chr10:76735780 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=) single nucleotide variant Genitopatellar syndrome [RCV001501331]|Genitopatellar syndrome [RCV002485572]|KAT6B-related condition [RCV003938035]|not provided [RCV000681350] Chr10:75030503 [GRCh38]
Chr10:76790261 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2949C>A (p.Asp983Glu) single nucleotide variant Intellectual disability [RCV000681510] Chr10:75021213 [GRCh38]
Chr10:76780971 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4263C>T (p.Asn1421=) single nucleotide variant Genitopatellar syndrome [RCV002544703]|not provided [RCV000681374] Chr10:75029087 [GRCh38]
Chr10:76788845 [GRCh37]
Chr10:10q22.2		 likely benign
GRCh37/hg19 10q22.2(chr10:76779297-76888826)x1 copy number loss not provided [RCV000683191] Chr10:76779297..76888826 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
NM_012330.4(KAT6B):c.4987G>A (p.Val1663Ile) single nucleotide variant Genitopatellar syndrome [RCV003645869]|not provided [RCV000681417] Chr10:75029811 [GRCh38]
Chr10:76789569 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.282del (p.Ser95fs) deletion not provided [RCV000681419] Chr10:74843136 [GRCh38]
Chr10:76602894 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.119A>G (p.His40Arg) single nucleotide variant Genitopatellar syndrome [RCV002544704]|not provided [RCV000681432] Chr10:74842976 [GRCh38]
Chr10:76602734 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.5731C>T (p.Gln1911Ter) single nucleotide variant Genitopatellar syndrome [RCV000687216] Chr10:75030555 [GRCh38]
Chr10:76790313 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5290C>T (p.Gln1764Ter) single nucleotide variant Genitopatellar syndrome [RCV000687136] Chr10:75030114 [GRCh38]
Chr10:76789872 [GRCh37]
Chr10:10q22.2		 pathogenic
GRCh37/hg19 10q22.2(chr10:75922676-76611753)x3 copy number gain not provided [RCV000737188] Chr10:75922676..76611753 [GRCh37]
Chr10:10q22.2		 benign
GRCh37/hg19 10q22.2(chr10:76584947-76586401)x1 copy number loss not provided [RCV000737189] Chr10:76584947..76586401 [GRCh37]
Chr10:10q22.2		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_012330.4(KAT6B):c.1994-20C>T single nucleotide variant Genitopatellar syndrome [RCV002072303]|Genitopatellar syndrome [RCV002501939]|not provided [RCV001583055] Chr10:74977296 [GRCh38]
Chr10:76737054 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1689G>A (p.Pro563=) single nucleotide variant Genitopatellar syndrome [RCV002073237]|not provided [RCV001691087] Chr10:74976026 [GRCh38]
Chr10:76735784 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.4393C>A (p.Gln1465Lys) single nucleotide variant not provided [RCV001667384] Chr10:75029217 [GRCh38]
Chr10:76788975 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.2629+275A>G single nucleotide variant not provided [RCV001583624] Chr10:74989387 [GRCh38]
Chr10:76749145 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3040C>T (p.Gln1014Ter) single nucleotide variant not provided [RCV001585260] Chr10:75021899 [GRCh38]
Chr10:76781657 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4776A>G (p.Gln1592=) single nucleotide variant Genitopatellar syndrome [RCV002072310]|KAT6B-related condition [RCV003900815]|not provided [RCV001586401] Chr10:75029600 [GRCh38]
Chr10:76789358 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4659C>T (p.Ser1553=) single nucleotide variant Genitopatellar syndrome [RCV002506673]|Genitopatellar syndrome [RCV002568442]|not provided [RCV001567045] Chr10:75029483 [GRCh38]
Chr10:76789241 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.457C>T (p.Arg153Ter) single nucleotide variant Genitopatellar syndrome [RCV002533852]|not provided [RCV000760866] Chr10:74843314 [GRCh38]
Chr10:76603072 [GRCh37]
Chr10:10q22.2		 pathogenic|uncertain significance
NM_012330.4(KAT6B):c.4096G>T (p.Glu1366Ter) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV003314363] Chr10:75028920 [GRCh38]
Chr10:76788678 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.4633G>A (p.Val1545Ile) single nucleotide variant Genitopatellar syndrome [RCV001341945]|KAT6B-related condition [RCV003918244]|not provided [RCV000761730] Chr10:75029457 [GRCh38]
Chr10:76789215 [GRCh37]
Chr10:10q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012330.4(KAT6B):c.2408_2412del (p.Asn803fs) deletion KBG syndrome [RCV000760264] Chr10:74985114..74985118 [GRCh38]
Chr10:76744872..76744876 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.1009C>T (p.Arg337Ter) single nucleotide variant Genitopatellar syndrome [RCV003777280]|KAT6B-related disorder [RCV003314148] Chr10:74972587 [GRCh38]
Chr10:76732345 [GRCh37]
Chr10:10q22.2		 pathogenic|uncertain significance
NM_012330.4(KAT6B):c.4087G>T (p.Glu1363Ter) single nucleotide variant not provided [RCV000760710] Chr10:75028911 [GRCh38]
Chr10:76788669 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3214G>C (p.Glu1072Gln) single nucleotide variant not provided [RCV000994457] Chr10:75022073 [GRCh38]
Chr10:76781831 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.5386G>A (p.Glu1796Lys) single nucleotide variant Genitopatellar syndrome [RCV002568984]|not provided [RCV001552163] Chr10:75030210 [GRCh38]
Chr10:76789968 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1993+194T>G single nucleotide variant not provided [RCV001567185] Chr10:74976524 [GRCh38]
Chr10:76736282 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.519G>A (p.Arg173=) single nucleotide variant Genitopatellar syndrome [RCV000878253]|Genitopatellar syndrome [RCV002495329] Chr10:74843376 [GRCh38]
Chr10:76603134 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3041_3042del (p.Gln1014fs) deletion Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000995790] Chr10:75021900..75021901 [GRCh38]
Chr10:76781658..76781659 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3477_3480dup (p.Asp1161delinsLeuTer) duplication Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000995791] Chr10:75025061..75025062 [GRCh38]
Chr10:76784819..76784820 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.622-7G>A single nucleotide variant Genitopatellar syndrome [RCV000941596]|Genitopatellar syndrome [RCV002505397] Chr10:74959963 [GRCh38]
Chr10:76719721 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3594del (p.Lys1199fs) deletion Genitopatellar syndrome [RCV003314422] Chr10:75025177 [GRCh38]
Chr10:76784935 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu) single nucleotide variant Genitopatellar syndrome [RCV000796071]|Genitopatellar syndrome [RCV002501052] Chr10:75028786 [GRCh38]
Chr10:76788544 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.5502del (p.Pro1833_Tyr1834insTer) deletion Genitopatellar syndrome [RCV000802120] Chr10:75030326 [GRCh38]
Chr10:76790084 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs) deletion Genitopatellar syndrome [RCV000850565] Chr10:75025188..75025191 [GRCh38]
Chr10:76784946..76784949 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg) single nucleotide variant Genitopatellar syndrome [RCV001065946]|Genitopatellar syndrome [RCV002482095] Chr10:75028870 [GRCh38]
Chr10:76788628 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1870A>G (p.Thr624Ala) single nucleotide variant not provided [RCV003314996] Chr10:74976207 [GRCh38]
Chr10:76735965 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5167dup (p.Gln1723fs) duplication Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV000789017] Chr10:75029988..75029989 [GRCh38]
Chr10:76789746..76789747 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.460C>G (p.Leu154Val) single nucleotide variant Genitopatellar syndrome [RCV003825171] Chr10:74843317 [GRCh38]
Chr10:76603075 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4861del (p.Ala1621fs) deletion Genitopatellar syndrome [RCV000988392] Chr10:75029685 [GRCh38]
Chr10:76789443 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys) single nucleotide variant Genitopatellar syndrome [RCV001301948]|Genitopatellar syndrome [RCV002481767]|Intellectual disability [RCV001252016]|not provided [RCV000994455] Chr10:74976051 [GRCh38]
Chr10:76735809 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3213del (p.Glu1072fs) deletion not provided [RCV000994456] Chr10:75022071 [GRCh38]
Chr10:76781829 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001028071]|Genitopatellar syndrome [RCV002552018] Chr10:74981854 [GRCh38]
Chr10:76741612 [GRCh37]
Chr10:10q22.2		 pathogenic|uncertain significance|not provided
NM_012330.4(KAT6B):c.4993A>G (p.Ser1665Gly) single nucleotide variant Genitopatellar syndrome [RCV000988393] Chr10:75029817 [GRCh38]
Chr10:76789575 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3022-1G>A single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001198210] Chr10:75021880 [GRCh38]
Chr10:76781638 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4538dup (p.Lys1514fs) duplication Genitopatellar syndrome [RCV001232046] Chr10:75029361..75029362 [GRCh38]
Chr10:76789119..76789120 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.2839A>G (p.Met947Val) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001197558] Chr10:75020791 [GRCh38]
Chr10:76780549 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.390G>T (p.Glu130Asp) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001198378] Chr10:74843247 [GRCh38]
Chr10:76603005 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter) single nucleotide variant Autosomal dominant KAT6B-related disorders [RCV000853381]|not provided [RCV002464339]|not specified [RCV003330970] Chr10:74976201 [GRCh38]
Chr10:76735959 [GRCh37]
Chr10:10q22.2		 pathogenic|uncertain significance
GRCh37/hg19 10q22.2(chr10:76747228-76843470)x3 copy number gain not provided [RCV000847268] Chr10:76747228..76843470 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2735A>G (p.Glu912Gly) single nucleotide variant not specified [RCV003317902] Chr10:75020687 [GRCh38]
Chr10:76780445 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4072G>T (p.Glu1358Ter) single nucleotide variant Genitopatellar syndrome [RCV000988390] Chr10:75028896 [GRCh38]
Chr10:76788654 [GRCh37]
Chr10:10q22.2		 likely pathogenic
GRCh37/hg19 10q22.2(chr10:76774010-77101087)x3 copy number gain not provided [RCV001006337] Chr10:76774010..77101087 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5279C>A (p.Pro1760Gln) single nucleotide variant not specified [RCV001195497] Chr10:75030103 [GRCh38]
Chr10:76789861 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3223G>T (p.Glu1075Ter) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV003127359] Chr10:75022082 [GRCh38]
Chr10:76781840 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.431A>C (p.Asn144Thr) single nucleotide variant Genitopatellar syndrome [RCV003104307] Chr10:74843288 [GRCh38]
Chr10:76603046 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1030C>T (p.Arg344Ter) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV003234879] Chr10:74972608 [GRCh38]
Chr10:76732366 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.5790G>A (p.Ala1930=) single nucleotide variant Genitopatellar syndrome [RCV002072236]|not provided [RCV001572500] Chr10:75030614 [GRCh38]
Chr10:76790372 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3232G>A (p.Glu1078Lys) single nucleotide variant Genitopatellar syndrome [RCV001866072]|not provided [RCV001577374] Chr10:75022091 [GRCh38]
Chr10:76781849 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.621+55G>A single nucleotide variant not provided [RCV001547075] Chr10:74843533 [GRCh38]
Chr10:76603291 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.717T>C (p.Asp239=) single nucleotide variant Genitopatellar syndrome [RCV002072019]|not provided [RCV001548311] Chr10:74960065 [GRCh38]
Chr10:76719823 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3997G>A (p.Val1333Ile) single nucleotide variant Genitopatellar syndrome [RCV003106801] Chr10:75028821 [GRCh38]
Chr10:76788579 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5396G>A (p.Gly1799Asp) single nucleotide variant not provided [RCV003318110] Chr10:75030220 [GRCh38]
Chr10:76789978 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5427G>T (p.Pro1809=) single nucleotide variant Genitopatellar syndrome [RCV003530197]|not provided [RCV001561785] Chr10:75030251 [GRCh38]
Chr10:76790009 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2878C>T (p.Arg960Trp) single nucleotide variant Genitopatellar syndrome [RCV001866137]|not provided [RCV001586662] Chr10:75021142 [GRCh38]
Chr10:76780900 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_012330.4(KAT6B):c.3664+40T>C single nucleotide variant not provided [RCV001689004] Chr10:75025289 [GRCh38]
Chr10:76785047 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3664+211G>A single nucleotide variant not provided [RCV001569835] Chr10:75025460 [GRCh38]
Chr10:76785218 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3559C>T (p.Pro1187Ser) single nucleotide variant Genitopatellar syndrome [RCV002001582] Chr10:75025144 [GRCh38]
Chr10:76784902 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.147A>G (p.Glu49=) single nucleotide variant Genitopatellar syndrome [RCV002072204]|Genitopatellar syndrome [RCV002501919]|not provided [RCV001570305] Chr10:74843004 [GRCh38]
Chr10:76602762 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.504C>T (p.Asp168=) single nucleotide variant not provided [RCV001563138] Chr10:74843361 [GRCh38]
Chr10:76603119 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3373-149C>T single nucleotide variant not provided [RCV001575502] Chr10:75024809 [GRCh38]
Chr10:76784567 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2926A>G (p.Arg976Gly) single nucleotide variant not provided [RCV000909475] Chr10:75021190 [GRCh38]
Chr10:76780948 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.5360C>T (p.Thr1787Met) single nucleotide variant Genitopatellar syndrome [RCV001859394]|not provided [RCV001561890] Chr10:75030184 [GRCh38]
Chr10:76789942 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val) single nucleotide variant Genitopatellar syndrome [RCV002495923]|Genitopatellar syndrome [RCV002570811]|Inborn genetic diseases [RCV002569090]|not provided [RCV001577248] Chr10:75029302 [GRCh38]
Chr10:76789060 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.1062-189_1062-188dup duplication not provided [RCV001570010] Chr10:74975209..74975210 [GRCh38]
Chr10:76734967..76734968 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3974_3987del (p.Arg1325fs) deletion not provided [RCV001545795] Chr10:75028793..75028806 [GRCh38]
Chr10:76788551..76788564 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) single nucleotide variant Genitopatellar syndrome [RCV002495896]|Genitopatellar syndrome [RCV002568418]|not provided [RCV001562715] Chr10:75021887 [GRCh38]
Chr10:76781645 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala) single nucleotide variant Genitopatellar syndrome [RCV002073969]|KAT6B-related condition [RCV003941113]|not provided [RCV001732503] Chr10:74975991 [GRCh38]
Chr10:76735749 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.2848_2849del (p.Lys950fs) deletion not provided [RCV003231734] Chr10:75020800..75020801 [GRCh38]
Chr10:76780558..76780559 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4963G>C (p.Val1655Leu) single nucleotide variant not provided [RCV000994458] Chr10:75029787 [GRCh38]
Chr10:76789545 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) single nucleotide variant Genitopatellar syndrome [RCV002072112]|Genitopatellar syndrome [RCV002495892]|Inborn genetic diseases [RCV002568381]|KAT6B-related condition [RCV003966188]|not provided [RCV001558795] Chr10:75029035 [GRCh38]
Chr10:76788793 [GRCh37]
Chr10:10q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012330.4(KAT6B):c.2116-187dup duplication not provided [RCV001558865] Chr10:74979031..74979032 [GRCh38]
Chr10:76738789..76738790 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1691G>C (p.Ser564Thr) single nucleotide variant not provided [RCV003231873] Chr10:74976028 [GRCh38]
Chr10:76735786 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1061+1G>A single nucleotide variant not provided [RCV001594312] Chr10:74972640 [GRCh38]
Chr10:76732398 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.1527G>C (p.Lys509Asn) single nucleotide variant Genitopatellar syndrome [RCV002472212] Chr10:74975864 [GRCh38]
Chr10:76735622 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3847C>G (p.Pro1283Ala) single nucleotide variant Genitopatellar syndrome [RCV002573343]|not provided [RCV001593726] Chr10:75028671 [GRCh38]
Chr10:76788429 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.5922G>A (p.Ala1974=) single nucleotide variant Genitopatellar syndrome [RCV002072955]|Genitopatellar syndrome [RCV002506706]|not provided [RCV001638837] Chr10:75030746 [GRCh38]
Chr10:76790504 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=) single nucleotide variant Genitopatellar syndrome [RCV002071945]|Genitopatellar syndrome [RCV002488359]|KAT6B-related condition [RCV003908889]|not provided [RCV001539090] Chr10:75022196 [GRCh38]
Chr10:76781954 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.621+299G>A single nucleotide variant not provided [RCV001659604] Chr10:74843777 [GRCh38]
Chr10:76603535 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.5232G>A (p.Pro1744=) single nucleotide variant Genitopatellar syndrome [RCV002073329]|not provided [RCV001715225] Chr10:75030056 [GRCh38]
Chr10:76789814 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.4392G>A (p.Val1464=) single nucleotide variant not provided [RCV001686519] Chr10:75029216 [GRCh38]
Chr10:76788974 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.4435G>A (p.Val1479Ile) single nucleotide variant Genitopatellar syndrome [RCV001866190]|not provided [RCV001586766] Chr10:75029259 [GRCh38]
Chr10:76789017 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_012330.4(KAT6B):c.3957G>T (p.Leu1319Phe) single nucleotide variant Genitopatellar syndrome [RCV002073179]|KAT6B-related condition [RCV003910957]|not provided [RCV001670486] Chr10:75028781 [GRCh38]
Chr10:76788539 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.3372+32C>T single nucleotide variant not provided [RCV001617949] Chr10:75022263 [GRCh38]
Chr10:76782021 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.4141G>C (p.Asp1381His) single nucleotide variant Genitopatellar syndrome [RCV002539679]|KAT6B-related condition [RCV003948673]|not provided [RCV001687308] Chr10:75028965 [GRCh38]
Chr10:76788723 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.731-4A>G single nucleotide variant Genitopatellar syndrome [RCV003645892]|not provided [RCV001658813] Chr10:74969656 [GRCh38]
Chr10:76729414 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.-258-101del deletion not provided [RCV001635689] Chr10:74842498 [GRCh38]
Chr10:76602256 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3258A>C (p.Glu1086Asp) single nucleotide variant Genitopatellar syndrome [RCV001065947]|KAT6B-related condition [RCV003953452]|not provided [RCV001664656] Chr10:75022117 [GRCh38]
Chr10:76781875 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.4079AAGAGGAAG[5] (p.Glu1363_Glu1368dup) microsatellite Genitopatellar syndrome [RCV001889000] Chr10:75028901..75028902 [GRCh38]
Chr10:76788659..76788660 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3293A>G (p.Glu1098Gly) single nucleotide variant Genitopatellar syndrome [RCV003530122]|not specified [RCV001002016] Chr10:75022152 [GRCh38]
Chr10:76781910 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.847-47T>C single nucleotide variant not provided [RCV001694308] Chr10:74969973 [GRCh38]
Chr10:76729731 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3373-178T>C single nucleotide variant not provided [RCV001671170] Chr10:75024780 [GRCh38]
Chr10:76784538 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.929-151A>C single nucleotide variant not provided [RCV001586603] Chr10:74972356 [GRCh38]
Chr10:76732114 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.622-53842A>G single nucleotide variant Genitopatellar syndrome [RCV001542337] Chr10:74906128 [GRCh38]
Chr10:76665886 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3416G>A (p.Arg1139Lys) single nucleotide variant Genitopatellar syndrome [RCV002073153]|not provided [RCV001667230] Chr10:75025001 [GRCh38]
Chr10:76784759 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.4506del (p.Asp1503fs) deletion Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001706921] Chr10:75029330 [GRCh38]
Chr10:76789088 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.2630-187A>G single nucleotide variant not provided [RCV001670060] Chr10:75020395 [GRCh38]
Chr10:76780153 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3372+30C>T single nucleotide variant not provided [RCV001692665] Chr10:75022261 [GRCh38]
Chr10:76782019 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3906del (p.Ser1303fs) deletion Genitopatellar syndrome [RCV001645000]|not provided [RCV003227960] Chr10:75028727 [GRCh38]
Chr10:76788485 [GRCh37]
Chr10:10q22.2		 pathogenic|likely pathogenic
NM_012330.4(KAT6B):c.2231+310dup duplication not provided [RCV001546240] Chr10:74979636..74979637 [GRCh38]
Chr10:76739394..76739395 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3289GAA[6] (p.Glu1103_Glu1104del) microsatellite Genitopatellar syndrome [RCV001047089]|Genitopatellar syndrome [RCV002505584]|not provided [RCV001692347] Chr10:75022148..75022153 [GRCh38]
Chr10:76781906..76781911 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_012330.4(KAT6B):c.4053G>C (p.Glu1351Asp) single nucleotide variant Genitopatellar syndrome [RCV001055101] Chr10:75028877 [GRCh38]
Chr10:76788635 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5962A>G (p.Thr1988Ala) single nucleotide variant not provided [RCV001751357]|not specified [RCV001195496] Chr10:75030786 [GRCh38]
Chr10:76790544 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4298_4304delinsTC (p.His1433fs) indel Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001030030] Chr10:75029122..75029128 [GRCh38]
Chr10:76788880..76788886 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.1366A>C (p.Ile456Leu) single nucleotide variant Genitopatellar syndrome [RCV001037574] Chr10:74975703 [GRCh38]
Chr10:76735461 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5077A>G (p.Ser1693Gly) single nucleotide variant not provided [RCV001090817] Chr10:75029901 [GRCh38]
Chr10:76789659 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3762C>T (p.Arg1254=) single nucleotide variant Genitopatellar syndrome [RCV002072231]|not provided [RCV001572174] Chr10:75028586 [GRCh38]
Chr10:76788344 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5020G>A (p.Glu1674Lys) single nucleotide variant not provided [RCV001572248] Chr10:75029844 [GRCh38]
Chr10:76789602 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2152C>T (p.Arg718Trp) single nucleotide variant Genitopatellar syndrome [RCV002568741]|Nephronophthisis [RCV001254706] Chr10:74979260 [GRCh38]
Chr10:76739018 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2958G>C (p.Arg986Ser) single nucleotide variant Intellectual disability [RCV001252017] Chr10:75021222 [GRCh38]
Chr10:76780980 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.847-2A>G single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001254592] Chr10:74970018 [GRCh38]
Chr10:76729776 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.2598G>A (p.Arg866=) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001253318] Chr10:74989081 [GRCh38]
Chr10:76748839 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.1787G>A (p.Arg596Gln) single nucleotide variant Intellectual disability [RCV001252015] Chr10:74976124 [GRCh38]
Chr10:76735882 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4089_4092del (p.Glu1364fs) deletion Genitopatellar syndrome [RCV001257975] Chr10:75028913..75028916 [GRCh38]
Chr10:76788671..76788674 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.4660G>A (p.Glu1554Lys) single nucleotide variant Genitopatellar syndrome [RCV002570484]|Intellectual disability [RCV001252018] Chr10:75029484 [GRCh38]
Chr10:76789242 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3664+4_3664+7del microsatellite Inborn genetic diseases [RCV001265974] Chr10:75025248..75025251 [GRCh38]
Chr10:76785006..76785009 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q22.2(chr10:76574136-76627410)x1 copy number loss not provided [RCV001260105] Chr10:76574136..76627410 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3994C>T (p.Pro1332Ser) single nucleotide variant Genitopatellar syndrome [RCV002480872]|Genitopatellar syndrome [RCV003530188]|not provided [RCV001254969] Chr10:75028818 [GRCh38]
Chr10:76788576 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5125del (p.Leu1709fs) deletion Chromatinopathy [RCV001261362] Chr10:75029948 [GRCh38]
Chr10:76789706 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.5831_5832del (p.Tyr1944fs) deletion Intellectual disability [RCV001257724] Chr10:75030654..75030655 [GRCh38]
Chr10:76790412..76790413 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.466dup (p.Ala156fs) duplication Intellectual disability [RCV001257723] Chr10:74843318..74843319 [GRCh38]
Chr10:76603076..76603077 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4726_4729dup (p.Arg1577fs) duplication Inborn genetic diseases [RCV001266606] Chr10:75029548..75029549 [GRCh38]
Chr10:76789306..76789307 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4441C>G (p.Leu1481Val) single nucleotide variant Genitopatellar syndrome [RCV002071937]|not provided [RCV001538180] Chr10:75029265 [GRCh38]
Chr10:76789023 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser) single nucleotide variant Genitopatellar syndrome [RCV001270386] Chr10:75028492 [GRCh38]
Chr10:76788250 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2629+2T>C single nucleotide variant not provided [RCV001268761] Chr10:74989114 [GRCh38]
Chr10:76748872 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.4162C>T (p.Gln1388Ter) single nucleotide variant Autosomal dominant KAT6B-related disorders [RCV001267662] Chr10:75028986 [GRCh38]
Chr10:76788744 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3349_3350del (p.Gln1117fs) microsatellite Neurodevelopmental disorder [RCV001374957]|not provided [RCV001281625] Chr10:75022206..75022207 [GRCh38]
Chr10:76781964..76781965 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3326C>T (p.Ser1109Phe) single nucleotide variant Genitopatellar syndrome [RCV001308962]|not provided [RCV001577476] Chr10:75022185 [GRCh38]
Chr10:76781943 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.4420T>G (p.Leu1474Val) single nucleotide variant Genitopatellar syndrome [RCV001321842] Chr10:75029244 [GRCh38]
Chr10:76789002 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1851T>G (p.Ile617Met) single nucleotide variant Genitopatellar syndrome [RCV001343889] Chr10:74976188 [GRCh38]
Chr10:76735946 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln) single nucleotide variant Genitopatellar syndrome [RCV001316239]|Genitopatellar syndrome [RCV002499611]|not provided [RCV003416195] Chr10:75021143 [GRCh38]
Chr10:76780901 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.6080_6087del (p.Met2027fs) deletion Genitopatellar syndrome [RCV001368484] Chr10:75030904..75030911 [GRCh38]
Chr10:76790662..76790669 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3987_3988del (p.Ala1331fs) deletion Genitopatellar syndrome [RCV001382519] Chr10:75028811..75028812 [GRCh38]
Chr10:76788569..76788570 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3539T>G (p.Val1180Gly) single nucleotide variant Genitopatellar syndrome [RCV003530209]|not provided [RCV001786667] Chr10:75025124 [GRCh38]
Chr10:76784882 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2153G>A (p.Arg718Gln) single nucleotide variant Genitopatellar syndrome [RCV001316957]|not provided [RCV003130264] Chr10:74979261 [GRCh38]
Chr10:76739019 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.66G>A (p.Lys22=) single nucleotide variant Genitopatellar syndrome [RCV001415245] Chr10:74842923 [GRCh38]
Chr10:76602681 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1184C>T (p.Ser395Leu) single nucleotide variant Genitopatellar syndrome [RCV001331761] Chr10:74975521 [GRCh38]
Chr10:76735279 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3109G>A (p.Ala1037Thr) single nucleotide variant Genitopatellar syndrome [RCV001361192]|Inborn genetic diseases [RCV003169797] Chr10:75021968 [GRCh38]
Chr10:76781726 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_012330.4(KAT6B):c.3523A>G (p.Thr1175Ala) single nucleotide variant Genitopatellar syndrome [RCV001373894]|not provided [RCV003227970] Chr10:75025108 [GRCh38]
Chr10:76784866 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1070C>A (p.Thr357Asn) single nucleotide variant Genitopatellar syndrome [RCV001368620] Chr10:74975407 [GRCh38]
Chr10:76735165 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.112A>G (p.Thr38Ala) single nucleotide variant Genitopatellar syndrome [RCV001326792] Chr10:74842969 [GRCh38]
Chr10:76602727 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.362C>T (p.Pro121Leu) single nucleotide variant Genitopatellar syndrome [RCV003645887]|not specified [RCV001355448] Chr10:74843219 [GRCh38]
Chr10:76602977 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.2510del (p.Cys837fs) deletion Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV002464441] Chr10:74985216 [GRCh38]
Chr10:76744974 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4228G>T (p.Glu1410Ter) single nucleotide variant not provided [RCV001291594] Chr10:75029052 [GRCh38]
Chr10:76788810 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.5662C>T (p.Pro1888Ser) single nucleotide variant Genitopatellar syndrome [RCV001323450] Chr10:75030486 [GRCh38]
Chr10:76790244 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5058C>A (p.Tyr1686Ter) single nucleotide variant Neurodevelopmental disorder [RCV001374893] Chr10:75029882 [GRCh38]
Chr10:76789640 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.1252A>G (p.Thr418Ala) single nucleotide variant Genitopatellar syndrome [RCV001359914] Chr10:74975589 [GRCh38]
Chr10:76735347 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6037A>G (p.Met2013Val) single nucleotide variant Genitopatellar syndrome [RCV001337399] Chr10:75030861 [GRCh38]
Chr10:76790619 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1238T>C (p.Ile413Thr) single nucleotide variant Genitopatellar syndrome [RCV001335572] Chr10:74975575 [GRCh38]
Chr10:76735333 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3428del (p.Ser1143fs) deletion Genitopatellar syndrome [RCV001335574] Chr10:75025013 [GRCh38]
Chr10:76784771 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4148A>C (p.Asp1383Ala) single nucleotide variant Genitopatellar syndrome [RCV001335575] Chr10:75028972 [GRCh38]
Chr10:76788730 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4392_4393delinsAA (p.Gln1465Lys) indel Genitopatellar syndrome [RCV001360592] Chr10:75029216..75029217 [GRCh38]
Chr10:76788974..76788975 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3255A>G (p.Glu1085=) single nucleotide variant Genitopatellar syndrome [RCV001486631]|KAT6B-related condition [RCV003956077]|not provided [RCV001551976] Chr10:75022114 [GRCh38]
Chr10:76781872 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5646C>A (p.Pro1882=) single nucleotide variant Genitopatellar syndrome [RCV001494992] Chr10:75030470 [GRCh38]
Chr10:76790228 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2231+9A>G single nucleotide variant Genitopatellar syndrome [RCV001513873]|KAT6B-related condition [RCV003921101]|not provided [RCV001638103] Chr10:74979348 [GRCh38]
Chr10:76739106 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.2991G>A (p.Val997=) single nucleotide variant Genitopatellar syndrome [RCV001504939]|Genitopatellar syndrome [RCV002495772] Chr10:75021255 [GRCh38]
Chr10:76781013 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4190C>G (p.Thr1397Arg) single nucleotide variant Genitopatellar syndrome [RCV001503198] Chr10:75029014 [GRCh38]
Chr10:76788772 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5260T>G (p.Cys1754Gly) single nucleotide variant Genitopatellar syndrome [RCV001489892] Chr10:75030084 [GRCh38]
Chr10:76789842 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3264A>G (p.Glu1088=) single nucleotide variant Genitopatellar syndrome [RCV001418351]|KAT6B-related condition [RCV003946096]|not provided [RCV001546053] Chr10:75022123 [GRCh38]
Chr10:76781881 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.3828G>A (p.Pro1276=) single nucleotide variant Genitopatellar syndrome [RCV001403674]|not provided [RCV001574432] Chr10:75028652 [GRCh38]
Chr10:76788410 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5409del (p.Phe1803fs) deletion Genitopatellar syndrome [RCV001381204] Chr10:75030230 [GRCh38]
Chr10:76789988 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.5364C>A (p.Ser1788Arg) single nucleotide variant Genitopatellar syndrome [RCV001447424] Chr10:75030188 [GRCh38]
Chr10:76789946 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3741G>A (p.Val1247=) single nucleotide variant Genitopatellar syndrome [RCV001447596] Chr10:75028565 [GRCh38]
Chr10:76788323 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3995del (p.Pro1332fs) deletion Genitopatellar syndrome [RCV001376024] Chr10:75028816 [GRCh38]
Chr10:76788574 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.121G>A (p.Gly41Arg) single nucleotide variant Genitopatellar syndrome [RCV001439157] Chr10:74842978 [GRCh38]
Chr10:76602736 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3697G>A (p.Glu1233Lys) single nucleotide variant Genitopatellar syndrome [RCV001514357]|Inborn genetic diseases [RCV002564324] Chr10:75028521 [GRCh38]
Chr10:76788279 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile) single nucleotide variant Genitopatellar syndrome [RCV001519191]|Genitopatellar syndrome [RCV002495824] Chr10:75029208 [GRCh38]
Chr10:76788966 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.621+40C>A single nucleotide variant not provided [RCV001614908] Chr10:74843518 [GRCh38]
Chr10:76603276 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.465G>A (p.Gly155=) single nucleotide variant Genitopatellar syndrome [RCV001465805]|not provided [RCV003416353] Chr10:74843322 [GRCh38]
Chr10:76603080 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.*144dup duplication not provided [RCV001655271] Chr10:75031177..75031178 [GRCh38]
Chr10:76790935..76790936 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.5889A>G (p.Arg1963=) single nucleotide variant Genitopatellar syndrome [RCV001459339] Chr10:75030713 [GRCh38]
Chr10:76790471 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4109AAG[3] (p.Glu1373del) microsatellite Genitopatellar syndrome [RCV002568928]|not provided [RCV001537151] Chr10:75028932..75028934 [GRCh38]
Chr10:76788690..76788692 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.2630-38C>T single nucleotide variant not provided [RCV001652658] Chr10:75020544 [GRCh38]
Chr10:76780302 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=) single nucleotide variant Genitopatellar syndrome [RCV002502025]|Genitopatellar syndrome [RCV003645895]|KAT6B-related condition [RCV003931278]|not provided [RCV001687994] Chr10:75030977 [GRCh38]
Chr10:76790735 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.363G>A (p.Pro121=) single nucleotide variant Genitopatellar syndrome [RCV001488857] Chr10:74843220 [GRCh38]
Chr10:76602978 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5262T>C (p.Cys1754=) single nucleotide variant Genitopatellar syndrome [RCV002073052]|not provided [RCV001653014] Chr10:75030086 [GRCh38]
Chr10:76789844 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.730+7T>A single nucleotide variant Genitopatellar syndrome [RCV001520651]|not provided [RCV001615206] Chr10:74960085 [GRCh38]
Chr10:76719843 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.4086A>G (p.Glu1362=) single nucleotide variant Genitopatellar syndrome [RCV001484489] Chr10:75028910 [GRCh38]
Chr10:76788668 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.282G>A (p.Gly94=) single nucleotide variant Genitopatellar syndrome [RCV001465757]|Genitopatellar syndrome [RCV002488267] Chr10:74843139 [GRCh38]
Chr10:76602897 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=) single nucleotide variant Genitopatellar syndrome [RCV001481808]|Genitopatellar syndrome [RCV002501662] Chr10:75030257 [GRCh38]
Chr10:76790015 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6024C>T (p.Ser2008=) single nucleotide variant Genitopatellar syndrome [RCV001484890] Chr10:75030848 [GRCh38]
Chr10:76790606 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3120A>G (p.Gln1040=) single nucleotide variant Genitopatellar syndrome [RCV001467851] Chr10:75021979 [GRCh38]
Chr10:76781737 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3122C>T (p.Ser1041Leu) single nucleotide variant Genitopatellar syndrome [RCV001500949]|Genitopatellar syndrome [RCV002495764] Chr10:75021981 [GRCh38]
Chr10:76781739 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1627C>G (p.Leu543Val) single nucleotide variant not provided [RCV002280500] Chr10:74975964 [GRCh38]
Chr10:76735722 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4397C>G (p.Pro1466Arg) single nucleotide variant Genitopatellar syndrome [RCV003108489] Chr10:75029221 [GRCh38]
Chr10:76788979 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.5469A>G (p.Leu1823=) single nucleotide variant not provided [RCV002247223] Chr10:75030293 [GRCh38]
Chr10:76790051 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2413T>C (p.Cys805Arg) single nucleotide variant Genitopatellar syndrome [RCV003107222] Chr10:74985119 [GRCh38]
Chr10:76744877 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3004C>T (p.Arg1002Ter) single nucleotide variant not provided [RCV002254046] Chr10:75021268 [GRCh38]
Chr10:76781026 [GRCh37]
Chr10:10q22.2		 pathogenic|likely pathogenic
NM_012330.4(KAT6B):c.3415A>G (p.Arg1139Gly) single nucleotide variant Genitopatellar syndrome [RCV003108452] Chr10:75025000 [GRCh38]
Chr10:76784758 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) single nucleotide variant Genitopatellar syndrome [RCV002227540]|Genitopatellar syndrome [RCV003771885]|not provided [RCV001732413] Chr10:74843282 [GRCh38]
Chr10:76603040 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_012330.4(KAT6B):c.2536-26A>G single nucleotide variant not provided [RCV001732555] Chr10:74988993 [GRCh38]
Chr10:76748751 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3652G>C (p.Asp1218His) single nucleotide variant not provided [RCV002244604] Chr10:75025237 [GRCh38]
Chr10:76784995 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1833_1835del (p.Ser612del) deletion not provided [RCV001779619] Chr10:74976169..74976171 [GRCh38]
Chr10:76735927..76735929 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5040C>G (p.Tyr1680Ter) single nucleotide variant Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV002246470] Chr10:75029864 [GRCh38]
Chr10:76789622 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.1400A>C (p.Lys467Thr) single nucleotide variant not provided [RCV001769254] Chr10:74975737 [GRCh38]
Chr10:76735495 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4390G>A (p.Val1464Met) single nucleotide variant Genitopatellar syndrome [RCV002073996]|not provided [RCV001754086] Chr10:75029214 [GRCh38]
Chr10:76788972 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.2992T>A (p.Ser998Thr) single nucleotide variant Genitopatellar syndrome [RCV001868643]|not provided [RCV001764132] Chr10:75021256 [GRCh38]
Chr10:76781014 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4461_4470del (p.Ser1487fs) deletion Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001754555]|Genitopatellar syndrome [RCV003154190] Chr10:75029283..75029292 [GRCh38]
Chr10:76789041..76789050 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4239A>G (p.Glu1413=) single nucleotide variant Genitopatellar syndrome [RCV002073997]|not provided [RCV001754301] Chr10:75029063 [GRCh38]
Chr10:76788821 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.6079A>G (p.Met2027Val) single nucleotide variant Genitopatellar syndrome [RCV003645897]|not provided [RCV001761098] Chr10:75030903 [GRCh38]
Chr10:76790661 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3295_3298del (p.Glu1099fs) deletion not provided [RCV001783499] Chr10:75022154..75022157 [GRCh38]
Chr10:76781912..76781915 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3005G>A (p.Arg1002Gln) single nucleotide variant not provided [RCV001767078] Chr10:75021269 [GRCh38]
Chr10:76781027 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5829C>G (p.Ile1943Met) single nucleotide variant not provided [RCV001763089] Chr10:75030653 [GRCh38]
Chr10:76790411 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5567C>G (p.Thr1856Arg) single nucleotide variant not provided [RCV001772914] Chr10:75030391 [GRCh38]
Chr10:76790149 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1504G>A (p.Gly502Ser) single nucleotide variant Genitopatellar syndrome [RCV003530203]|not provided [RCV001763584] Chr10:74975841 [GRCh38]
Chr10:76735599 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1367T>C (p.Ile456Thr) single nucleotide variant Genitopatellar syndrome [RCV002074059]|not provided [RCV001776452] Chr10:74975704 [GRCh38]
Chr10:76735462 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.1783A>T (p.Ser595Cys) single nucleotide variant not provided [RCV001773880] Chr10:74976120 [GRCh38]
Chr10:76735878 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2651A>G (p.Glu884Gly) single nucleotide variant not provided [RCV001763033] Chr10:75020603 [GRCh38]
Chr10:76780361 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1993+40G>A single nucleotide variant not provided [RCV001786102] Chr10:74976370 [GRCh38]
Chr10:76736128 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.786A>T (p.Leu262Phe) single nucleotide variant not provided [RCV001767385] Chr10:74969715 [GRCh38]
Chr10:76729473 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1754C>T (p.Ala585Val) single nucleotide variant Genitopatellar syndrome [RCV002541242]|not provided [RCV001786267] Chr10:74976091 [GRCh38]
Chr10:76735849 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.2709G>A (p.Leu903=) single nucleotide variant not provided [RCV001768685] Chr10:75020661 [GRCh38]
Chr10:76780419 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5945TGAACA[4] (p.1984MN[3]) microsatellite not provided [RCV001773197] Chr10:75030768..75030769 [GRCh38]
Chr10:76790526..76790527 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5970C>T (p.Asn1990=) single nucleotide variant Genitopatellar syndrome [RCV002074005]|not provided [RCV001764934] Chr10:75030794 [GRCh38]
Chr10:76790552 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.1819G>A (p.Gly607Arg) single nucleotide variant not provided [RCV001752131] Chr10:74976156 [GRCh38]
Chr10:76735914 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5771C>T (p.Ser1924Phe) single nucleotide variant not provided [RCV001774045] Chr10:75030595 [GRCh38]
Chr10:76790353 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3403C>T (p.Arg1135Cys) single nucleotide variant not provided [RCV001765339] Chr10:75024988 [GRCh38]
Chr10:76784746 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3952C>G (p.Leu1318Val) single nucleotide variant not provided [RCV001752587] Chr10:75028776 [GRCh38]
Chr10:76788534 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.748A>C (p.Lys250Gln) single nucleotide variant not provided [RCV001769387] Chr10:74969677 [GRCh38]
Chr10:76729435 [GRCh37]
Chr10:10q22.2		 likely pathogenic|uncertain significance
NM_012330.4(KAT6B):c.4252C>T (p.Pro1418Ser) single nucleotide variant Genitopatellar syndrome [RCV003771990]|not provided [RCV001765621] Chr10:75029076 [GRCh38]
Chr10:76788834 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6061A>G (p.Met2021Val) single nucleotide variant not provided [RCV001765882] Chr10:75030885 [GRCh38]
Chr10:76790643 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.102T>G (p.His34Gln) single nucleotide variant not provided [RCV001771413] Chr10:74842959 [GRCh38]
Chr10:76602717 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5031dup (p.Glu1678Ter) duplication not provided [RCV001782326] Chr10:75029854..75029855 [GRCh38]
Chr10:76789612..76789613 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3002_3021+26dup duplication not provided [RCV001773409] Chr10:75021262..75021263 [GRCh38]
Chr10:76781020..76781021 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6117G>T (p.Gln2039His) single nucleotide variant not provided [RCV001763506] Chr10:75030941 [GRCh38]
Chr10:76790699 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5068A>G (p.Met1690Val) single nucleotide variant not provided [RCV001800007] Chr10:75029892 [GRCh38]
Chr10:76789650 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3841A>G (p.Met1281Val) single nucleotide variant not provided [RCV001757920] Chr10:75028665 [GRCh38]
Chr10:76788423 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3022-5C>G single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV001810315]|not provided [RCV001763795] Chr10:75021876 [GRCh38]
Chr10:76781634 [GRCh37]
Chr10:10q22.2		 likely pathogenic|uncertain significance
NM_012330.4(KAT6B):c.3217G>T (p.Glu1073Ter) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV002471167]|not provided [RCV001816088] Chr10:75022076 [GRCh38]
Chr10:76781834 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=) single nucleotide variant Genitopatellar syndrome [RCV002073988]|Genitopatellar syndrome [RCV002496064]|not provided [RCV001733446] Chr10:75029258 [GRCh38]
Chr10:76789016 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.5692C>T (p.Arg1898Trp) single nucleotide variant Inborn genetic diseases [RCV002540420]|not provided [RCV001758756] Chr10:75030516 [GRCh38]
Chr10:76790274 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del) deletion Genitopatellar syndrome [RCV002482302]|Genitopatellar syndrome [RCV003645902]|not provided [RCV001779669] Chr10:74975611..74975616 [GRCh38]
Chr10:76735369..76735374 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3004_3005insTTAGC (p.Arg1002fs) insertion Genitopatellar syndrome [RCV001809179] Chr10:75021265..75021266 [GRCh38]
Chr10:76781023..76781024 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3857del (p.Gln1286fs) deletion Genitopatellar syndrome [RCV001808884] Chr10:75028681 [GRCh38]
Chr10:76788439 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.2014A>G (p.Ile672Val) single nucleotide variant Genitopatellar syndrome [RCV002001868]|Inborn genetic diseases [RCV003289264] Chr10:74977336 [GRCh38]
Chr10:76737094 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.5807C>T (p.Ala1936Val) single nucleotide variant not provided [RCV001806623] Chr10:75030631 [GRCh38]
Chr10:76790389 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4760C>T (p.Thr1587Met) single nucleotide variant Genitopatellar syndrome [RCV001893592]|Inborn genetic diseases [RCV002554297] Chr10:75029584 [GRCh38]
Chr10:76789342 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.731-11del deletion Genitopatellar syndrome [RCV002074380]|not provided [RCV001823408] Chr10:74969645 [GRCh38]
Chr10:76729403 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.2734G>A (p.Glu912Lys) single nucleotide variant Genitopatellar syndrome [RCV001910139] Chr10:75020686 [GRCh38]
Chr10:76780444 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1813A>C (p.Ser605Arg) single nucleotide variant Genitopatellar syndrome [RCV002025802] Chr10:74976150 [GRCh38]
Chr10:76735908 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.530G>A (p.Gly177Glu) single nucleotide variant Genitopatellar syndrome [RCV001927179] Chr10:74843387 [GRCh38]
Chr10:76603145 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1732T>C (p.Ser578Pro) single nucleotide variant Genitopatellar syndrome [RCV001987976] Chr10:74976069 [GRCh38]
Chr10:76735827 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1865G>A (p.Arg622Gln) single nucleotide variant Genitopatellar syndrome [RCV001927511]|Genitopatellar syndrome [RCV002490162]|Inborn genetic diseases [RCV002555229] Chr10:74976202 [GRCh38]
Chr10:76735960 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3106C>A (p.Pro1036Thr) single nucleotide variant Genitopatellar syndrome [RCV002008841] Chr10:75021965 [GRCh38]
Chr10:76781723 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.1025T>A (p.Ile342Asn) single nucleotide variant Genitopatellar syndrome [RCV001983287] Chr10:74972603 [GRCh38]
Chr10:76732361 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6196C>G (p.Leu2066Val) single nucleotide variant Genitopatellar syndrome [RCV001965907] Chr10:75031020 [GRCh38]
Chr10:76790778 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.621+6C>T single nucleotide variant Genitopatellar syndrome [RCV001890162] Chr10:74843484 [GRCh38]
Chr10:76603242 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1513C>G (p.Pro505Ala) single nucleotide variant Genitopatellar syndrome [RCV001891412] Chr10:74975850 [GRCh38]
Chr10:76735608 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1413A>T (p.Lys471Asn) single nucleotide variant not provided [RCV001843652] Chr10:74975750 [GRCh38]
Chr10:76735508 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4678C>G (p.Gln1560Glu) single nucleotide variant not provided [RCV001843653] Chr10:75029502 [GRCh38]
Chr10:76789260 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4298A>T (p.His1433Leu) single nucleotide variant Genitopatellar syndrome [RCV001824271] Chr10:75029122 [GRCh38]
Chr10:76788880 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.4572_4573dup (p.Thr1525fs) duplication not provided [RCV001838971] Chr10:75029394..75029395 [GRCh38]
Chr10:76789152..76789153 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.2373+6C>T single nucleotide variant Genitopatellar syndrome [RCV001892562] Chr10:74981934 [GRCh38]
Chr10:76741692 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.1688C>T (p.Pro563Leu) single nucleotide variant Hypospadias [RCV001824101]|Inborn genetic diseases [RCV002542753] Chr10:74976025 [GRCh38]
Chr10:76735783 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.6163G>A (p.Gly2055Ser) single nucleotide variant Genitopatellar syndrome [RCV002021722] Chr10:75030987 [GRCh38]
Chr10:76790745 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.643A>G (p.Ile215Val) single nucleotide variant Genitopatellar syndrome [RCV001967061] Chr10:74959991 [GRCh38]
Chr10:76719749 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3		 pathogenic
NM_012330.4(KAT6B):c.3289GAA[5] (p.Glu1102_Glu1104del) microsatellite Genitopatellar syndrome [RCV001893617] Chr10:75022148..75022156 [GRCh38]
Chr10:76781906..76781914 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2143G>C (p.Asp715His) single nucleotide variant Genitopatellar syndrome [RCV001871435] Chr10:74979251 [GRCh38]
Chr10:76739009 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4285G>A (p.Glu1429Lys) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001849620]|Genitopatellar syndrome [RCV003530212] Chr10:75029109 [GRCh38]
Chr10:76788867 [GRCh37]
Chr10:10q22.2		 likely pathogenic|benign
NM_012330.4(KAT6B):c.5279C>T (p.Pro1760Leu) single nucleotide variant Genitopatellar syndrome [RCV002006589] Chr10:75030103 [GRCh38]
Chr10:76789861 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.4474C>G (p.Leu1492Val) single nucleotide variant Genitopatellar syndrome [RCV001987591] Chr10:75029298 [GRCh38]
Chr10:76789056 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3231C>G (p.Asp1077Glu) single nucleotide variant Genitopatellar syndrome [RCV001984788]|not provided [RCV003416640] Chr10:75022090 [GRCh38]
Chr10:76781848 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr) single nucleotide variant Genitopatellar syndrome [RCV002044258]|Genitopatellar syndrome [RCV002478097] Chr10:75030192 [GRCh38]
Chr10:76789950 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3289GAA[10] (p.Glu1103_Glu1104dup) microsatellite Genitopatellar syndrome [RCV001908281]|Genitopatellar syndrome [RCV002503496] Chr10:75022147..75022148 [GRCh38]
Chr10:76781905..76781906 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.4271A>G (p.His1424Arg) single nucleotide variant Genitopatellar syndrome [RCV001945721]|Inborn genetic diseases [RCV003167250] Chr10:75029095 [GRCh38]
Chr10:76788853 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.452G>A (p.Arg151Gln) single nucleotide variant Genitopatellar syndrome [RCV002023476] Chr10:74843309 [GRCh38]
Chr10:76603067 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5863C>G (p.Pro1955Ala) single nucleotide variant Genitopatellar syndrome [RCV001986843] Chr10:75030687 [GRCh38]
Chr10:76790445 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4852A>G (p.Ser1618Gly) single nucleotide variant Genitopatellar syndrome [RCV001909327] Chr10:75029676 [GRCh38]
Chr10:76789434 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1667A>T (p.Gln556Leu) single nucleotide variant Genitopatellar syndrome [RCV001986455]|Genitopatellar syndrome [RCV002486562] Chr10:74976004 [GRCh38]
Chr10:76735762 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del) microsatellite Genitopatellar syndrome [RCV002002284]|Genitopatellar syndrome [RCV002507676] Chr10:75022067..75022069 [GRCh38]
Chr10:76781825..76781827 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5426C>T (p.Pro1809Leu) single nucleotide variant Genitopatellar syndrome [RCV001944704] Chr10:75030250 [GRCh38]
Chr10:76790008 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4514A>G (p.Glu1505Gly) single nucleotide variant Genitopatellar syndrome [RCV001995361]|Inborn genetic diseases [RCV003303532] Chr10:75029338 [GRCh38]
Chr10:76789096 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3154C>T (p.Arg1052Trp) single nucleotide variant Genitopatellar syndrome [RCV001944767]|not provided [RCV002225943] Chr10:75022013 [GRCh38]
Chr10:76781771 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.2501A>T (p.Glu834Val) single nucleotide variant Genitopatellar syndrome [RCV001916723] Chr10:74985207 [GRCh38]
Chr10:76744965 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.2373+6C>A single nucleotide variant Genitopatellar syndrome [RCV001958145]|Genitopatellar syndrome [RCV002492036] Chr10:74981934 [GRCh38]
Chr10:76741692 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1542_1543delinsCA (p.Ser515Thr) indel Genitopatellar syndrome [RCV001943357] Chr10:74975879..74975880 [GRCh38]
Chr10:76735637..76735638 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4006A>G (p.Asn1336Asp) single nucleotide variant Genitopatellar syndrome [RCV002046059] Chr10:75028830 [GRCh38]
Chr10:76788588 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5831A>G (p.Tyr1944Cys) single nucleotide variant Genitopatellar syndrome [RCV001923053] Chr10:75030655 [GRCh38]
Chr10:76790413 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4526G>A (p.Gly1509Glu) single nucleotide variant Genitopatellar syndrome [RCV002047533] Chr10:75029350 [GRCh38]
Chr10:76789108 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2272A>G (p.Met758Val) single nucleotide variant Genitopatellar syndrome [RCV001899923]|Genitopatellar syndrome [RCV002506905] Chr10:74981827 [GRCh38]
Chr10:76741585 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.310A>T (p.Asn104Tyr) single nucleotide variant Genitopatellar syndrome [RCV001982545] Chr10:74843167 [GRCh38]
Chr10:76602925 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1717C>T (p.Arg573Cys) single nucleotide variant Genitopatellar syndrome [RCV001952665]|Genitopatellar syndrome [RCV002507613] Chr10:74976054 [GRCh38]
Chr10:76735812 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) single nucleotide variant Genitopatellar syndrome [RCV001921221]|Genitopatellar syndrome [RCV002479409]|Inborn genetic diseases [RCV002556425] Chr10:74960027 [GRCh38]
Chr10:76719785 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3770C>G (p.Ser1257Cys) single nucleotide variant Genitopatellar syndrome [RCV001991175] Chr10:75028594 [GRCh38]
Chr10:76788352 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5327C>A (p.Thr1776Asn) single nucleotide variant Genitopatellar syndrome [RCV002031134] Chr10:75030151 [GRCh38]
Chr10:76789909 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1874T>G (p.Phe625Cys) single nucleotide variant Genitopatellar syndrome [RCV001902800] Chr10:74976211 [GRCh38]
Chr10:76735969 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3410G>A (p.Arg1137His) single nucleotide variant Genitopatellar syndrome [RCV001870318]|Genitopatellar syndrome [RCV002478127]|Inborn genetic diseases [RCV002547939] Chr10:75024995 [GRCh38]
Chr10:76784753 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1727A>C (p.Glu576Ala) single nucleotide variant Genitopatellar syndrome [RCV002016039] Chr10:74976064 [GRCh38]
Chr10:76735822 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4211G>T (p.Arg1404Leu) single nucleotide variant Genitopatellar syndrome [RCV002030605] Chr10:75029035 [GRCh38]
Chr10:76788793 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1662G>A (p.Gln554=) single nucleotide variant Genitopatellar syndrome [RCV001924993]|Genitopatellar syndrome [RCV002478304] Chr10:74975999 [GRCh38]
Chr10:76735757 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3219GGA[3] (p.Glu1076del) microsatellite Genitopatellar syndrome [RCV001981096] Chr10:75022076..75022078 [GRCh38]
Chr10:76781834..76781836 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.86A>T (p.Glu29Val) single nucleotide variant Genitopatellar syndrome [RCV001934963] Chr10:74842943 [GRCh38]
Chr10:76602701 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2742_2743del (p.Tyr915fs) microsatellite Genitopatellar syndrome [RCV001995595] Chr10:75020691..75020692 [GRCh38]
Chr10:76780449..76780450 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3671T>C (p.Met1224Thr) single nucleotide variant Genitopatellar syndrome [RCV001881326] Chr10:75028495 [GRCh38]
Chr10:76788253 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4510G>A (p.Glu1504Lys) single nucleotide variant Genitopatellar syndrome [RCV002016302]|KAT6B-related condition [RCV003402053]|not provided [RCV003883739] Chr10:75029334 [GRCh38]
Chr10:76789092 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1189A>C (p.Ser397Arg) single nucleotide variant Genitopatellar syndrome [RCV002013062]|Genitopatellar syndrome [RCV002479728] Chr10:74975526 [GRCh38]
Chr10:76735284 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1162C>T (p.His388Tyr) single nucleotide variant Genitopatellar syndrome [RCV002017162] Chr10:74975499 [GRCh38]
Chr10:76735257 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5138G>A (p.Ser1713Asn) single nucleotide variant Genitopatellar syndrome [RCV001932846] Chr10:75029962 [GRCh38]
Chr10:76789720 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4656C>G (p.Ser1552Arg) single nucleotide variant Genitopatellar syndrome [RCV002016745]|Inborn genetic diseases [RCV002548191] Chr10:75029480 [GRCh38]
Chr10:76789238 [GRCh37]
Chr10:10q22.2		 benign|likely benign|uncertain significance
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp) single nucleotide variant Genitopatellar syndrome [RCV002018530]|Genitopatellar syndrome [RCV002486711] Chr10:74969765 [GRCh38]
Chr10:76729523 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5899A>G (p.Met1967Val) single nucleotide variant Genitopatellar syndrome [RCV002027861] Chr10:75030723 [GRCh38]
Chr10:76790481 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2096C>T (p.Ala699Val) single nucleotide variant Genitopatellar syndrome [RCV001877271] Chr10:74977418 [GRCh38]
Chr10:76737176 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5192G>C (p.Ser1731Thr) single nucleotide variant Genitopatellar syndrome [RCV002029200] Chr10:75030016 [GRCh38]
Chr10:76789774 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5083T>A (p.Cys1695Ser) single nucleotide variant Genitopatellar syndrome [RCV001992178] Chr10:75029907 [GRCh38]
Chr10:76789665 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5826A>T (p.Gln1942His) single nucleotide variant Genitopatellar syndrome [RCV001996821] Chr10:75030650 [GRCh38]
Chr10:76790408 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln) single nucleotide variant Genitopatellar syndrome [RCV001979828]|Genitopatellar syndrome [RCV002497851]|Inborn genetic diseases [RCV002563495] Chr10:75029347 [GRCh38]
Chr10:76789105 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.6147G>A (p.Thr2049=) single nucleotide variant Genitopatellar syndrome [RCV001933838] Chr10:75030971 [GRCh38]
Chr10:76790729 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1346G>A (p.Arg449His) single nucleotide variant Genitopatellar syndrome [RCV001959459] Chr10:74975683 [GRCh38]
Chr10:76735441 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6187A>C (p.Lys2063Gln) single nucleotide variant Genitopatellar syndrome [RCV001998663]|Genitopatellar syndrome [RCV002484907] Chr10:75031011 [GRCh38]
Chr10:76790769 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn) single nucleotide variant Genitopatellar syndrome [RCV001960125]|Genitopatellar syndrome [RCV002507628]|Inborn genetic diseases [RCV002562064] Chr10:75029394 [GRCh38]
Chr10:76789152 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3694A>G (p.Lys1232Glu) single nucleotide variant Genitopatellar syndrome [RCV001981649] Chr10:75028518 [GRCh38]
Chr10:76788276 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5971G>A (p.Ala1991Thr) single nucleotide variant Genitopatellar syndrome [RCV001885837] Chr10:75030795 [GRCh38]
Chr10:76790553 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del) microsatellite Genitopatellar syndrome [RCV002046971]|Genitopatellar syndrome [RCV002489928] Chr10:75029052..75029054 [GRCh38]
Chr10:76788810..76788812 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.281G>A (p.Gly94Glu) single nucleotide variant Genitopatellar syndrome [RCV001973866] Chr10:74843138 [GRCh38]
Chr10:76602896 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4118A>G (p.Glu1373Gly) single nucleotide variant Genitopatellar syndrome [RCV002049059] Chr10:75028942 [GRCh38]
Chr10:76788700 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.385A>G (p.Ile129Val) single nucleotide variant Genitopatellar syndrome [RCV001922859] Chr10:74843242 [GRCh38]
Chr10:76603000 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4689C>A (p.Ala1563=) single nucleotide variant Genitopatellar syndrome [RCV001951679] Chr10:75029513 [GRCh38]
Chr10:76789271 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.311A>G (p.Asn104Ser) single nucleotide variant Genitopatellar syndrome [RCV002145223] Chr10:74843168 [GRCh38]
Chr10:76602926 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5487T>C (p.Asp1829=) single nucleotide variant Genitopatellar syndrome [RCV002186489] Chr10:75030311 [GRCh38]
Chr10:76790069 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=) single nucleotide variant Genitopatellar syndrome [RCV002207738]|Genitopatellar syndrome [RCV002498264] Chr10:75025062 [GRCh38]
Chr10:76784820 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3489A>G (p.Ser1163=) single nucleotide variant Genitopatellar syndrome [RCV002191518] Chr10:75025074 [GRCh38]
Chr10:76784832 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2232-6dup duplication Genitopatellar syndrome [RCV002164808] Chr10:74981778..74981779 [GRCh38]
Chr10:76741536..76741537 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2862-13_2862-11del deletion Genitopatellar syndrome [RCV002188400] Chr10:75021112..75021114 [GRCh38]
Chr10:76780870..76780872 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4423A>G (p.Met1475Val) single nucleotide variant Genitopatellar syndrome [RCV002129624] Chr10:75029247 [GRCh38]
Chr10:76789005 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3270_3278del (p.Asp1090_Glu1092del) deletion Genitopatellar syndrome [RCV002110514] Chr10:75022121..75022129 [GRCh38]
Chr10:76781879..76781887 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2232-16T>A single nucleotide variant Genitopatellar syndrome [RCV002166812] Chr10:74981771 [GRCh38]
Chr10:76741529 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3987A>T (p.Thr1329=) single nucleotide variant Genitopatellar syndrome [RCV002091209] Chr10:75028811 [GRCh38]
Chr10:76788569 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4878C>T (p.Tyr1626=) single nucleotide variant Genitopatellar syndrome [RCV002187516]|Genitopatellar syndrome [RCV002498175] Chr10:75029702 [GRCh38]
Chr10:76789460 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5502C>T (p.Tyr1834=) single nucleotide variant Genitopatellar syndrome [RCV002188401] Chr10:75030326 [GRCh38]
Chr10:76790084 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4830C>T (p.Ser1610=) single nucleotide variant Genitopatellar syndrome [RCV002190140] Chr10:75029654 [GRCh38]
Chr10:76789412 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4989A>G (p.Val1663=) single nucleotide variant Genitopatellar syndrome [RCV002109709] Chr10:75029813 [GRCh38]
Chr10:76789571 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1539C>T (p.Ala513=) single nucleotide variant Genitopatellar syndrome [RCV002186294]|Genitopatellar syndrome [RCV002496118] Chr10:74975876 [GRCh38]
Chr10:76735634 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3029G>A (p.Arg1010Gln) single nucleotide variant Genitopatellar syndrome [RCV002146638] Chr10:75021888 [GRCh38]
Chr10:76781646 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1566T>C (p.Ser522=) single nucleotide variant Genitopatellar syndrome [RCV002197645] Chr10:74975903 [GRCh38]
Chr10:76735661 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2727C>T (p.Val909=) single nucleotide variant Genitopatellar syndrome [RCV002173679] Chr10:75020679 [GRCh38]
Chr10:76780437 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.603A>G (p.Leu201=) single nucleotide variant Genitopatellar syndrome [RCV002211904] Chr10:74843460 [GRCh38]
Chr10:76603218 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.730+15T>C single nucleotide variant Genitopatellar syndrome [RCV002212695] Chr10:74960093 [GRCh38]
Chr10:76719851 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3534T>C (p.Ile1178=) single nucleotide variant Genitopatellar syndrome [RCV002076169] Chr10:75025119 [GRCh38]
Chr10:76784877 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2730C>T (p.Ile910=) single nucleotide variant Genitopatellar syndrome [RCV002215433] Chr10:75020682 [GRCh38]
Chr10:76780440 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1709G>A (p.Arg570His) single nucleotide variant Genitopatellar syndrome [RCV002133352] Chr10:74976046 [GRCh38]
Chr10:76735804 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2250G>A (p.Leu750=) single nucleotide variant Genitopatellar syndrome [RCV002193763] Chr10:74981805 [GRCh38]
Chr10:76741563 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1581T>G (p.Ser527Arg) single nucleotide variant Genitopatellar syndrome [RCV002133136] Chr10:74975918 [GRCh38]
Chr10:76735676 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3381T>C (p.Phe1127=) single nucleotide variant Genitopatellar syndrome [RCV002079942] Chr10:75024966 [GRCh38]
Chr10:76784724 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2793G>A (p.Thr931=) single nucleotide variant Genitopatellar syndrome [RCV002077766] Chr10:75020745 [GRCh38]
Chr10:76780503 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1540A>G (p.Thr514Ala) single nucleotide variant Genitopatellar syndrome [RCV002116272] Chr10:74975877 [GRCh38]
Chr10:76735635 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.765A>G (p.Leu255=) single nucleotide variant Genitopatellar syndrome [RCV002116873] Chr10:74969694 [GRCh38]
Chr10:76729452 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5280G>A (p.Pro1760=) single nucleotide variant Genitopatellar syndrome [RCV002078990] Chr10:75030104 [GRCh38]
Chr10:76789862 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6057C>T (p.Tyr2019=) single nucleotide variant Genitopatellar syndrome [RCV002079236] Chr10:75030881 [GRCh38]
Chr10:76790639 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6211A>G (p.Met2071Val) single nucleotide variant Genitopatellar syndrome [RCV002213749] Chr10:75031035 [GRCh38]
Chr10:76790793 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3216A>G (p.Glu1072=) single nucleotide variant Genitopatellar syndrome [RCV002152660]|Genitopatellar syndrome [RCV002508045] Chr10:75022075 [GRCh38]
Chr10:76781833 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2115+13T>A single nucleotide variant Genitopatellar syndrome [RCV002196603]|Genitopatellar syndrome [RCV002486998] Chr10:74977450 [GRCh38]
Chr10:76737208 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2643T>C (p.Ser881=) single nucleotide variant Genitopatellar syndrome [RCV002170686] Chr10:75020595 [GRCh38]
Chr10:76780353 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.609T>C (p.His203=) single nucleotide variant Genitopatellar syndrome [RCV002170340] Chr10:74843466 [GRCh38]
Chr10:76603224 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3366G>A (p.Lys1122=) single nucleotide variant Genitopatellar syndrome [RCV002133455] Chr10:75022225 [GRCh38]
Chr10:76781983 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1062-14A>G single nucleotide variant Genitopatellar syndrome [RCV002153420] Chr10:74975385 [GRCh38]
Chr10:76735143 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1646A>C (p.His549Pro) single nucleotide variant Genitopatellar syndrome [RCV002080666] Chr10:74975983 [GRCh38]
Chr10:76735741 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2463C>T (p.Val821=) single nucleotide variant Genitopatellar syndrome [RCV002117571] Chr10:74985169 [GRCh38]
Chr10:76744927 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5680C>T (p.Pro1894Ser) single nucleotide variant not provided [RCV002244420] Chr10:75030504 [GRCh38]
Chr10:76790262 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3837A>G (p.Thr1279=) single nucleotide variant Genitopatellar syndrome [RCV002155988] Chr10:75028661 [GRCh38]
Chr10:76788419 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5783A>G (p.Lys1928Arg) single nucleotide variant Genitopatellar syndrome [RCV002141988] Chr10:75030607 [GRCh38]
Chr10:76790365 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3226G>A (p.Glu1076Lys) single nucleotide variant Genitopatellar syndrome [RCV002182012] Chr10:75022085 [GRCh38]
Chr10:76781843 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=) single nucleotide variant Genitopatellar syndrome [RCV002118738]|Genitopatellar syndrome [RCV002500207] Chr10:75028901 [GRCh38]
Chr10:76788659 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4488T>G (p.Pro1496=) single nucleotide variant Genitopatellar syndrome [RCV002082517] Chr10:75029312 [GRCh38]
Chr10:76789070 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1626A>G (p.Ala542=) single nucleotide variant Genitopatellar syndrome [RCV002182266] Chr10:74975963 [GRCh38]
Chr10:76735721 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6054A>G (p.Gln2018=) single nucleotide variant Genitopatellar syndrome [RCV002120987]|KAT6B-related condition [RCV003971050] Chr10:75030878 [GRCh38]
Chr10:76790636 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3690C>T (p.Asn1230=) single nucleotide variant Genitopatellar syndrome [RCV002117663] Chr10:75028514 [GRCh38]
Chr10:76788272 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2790G>T (p.Ala930=) single nucleotide variant Genitopatellar syndrome [RCV002142952]|Genitopatellar syndrome [RCV002508096] Chr10:75020742 [GRCh38]
Chr10:76780500 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4887C>T (p.Ile1629=) single nucleotide variant Genitopatellar syndrome [RCV002083885] Chr10:75029711 [GRCh38]
Chr10:76789469 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4101_4103del (p.Glu1368del) deletion Genitopatellar syndrome [RCV002200311] Chr10:75028923..75028925 [GRCh38]
Chr10:76788681..76788683 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4062_4064del (p.Glu1368del) deletion Genitopatellar syndrome [RCV002139802] Chr10:75028884..75028886 [GRCh38]
Chr10:76788642..76788644 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4391_4392del (p.Val1464fs) microsatellite Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV002243599] Chr10:75029213..75029214 [GRCh38]
Chr10:76788971..76788972 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3533T>C (p.Ile1178Thr) single nucleotide variant Genitopatellar syndrome [RCV002200811] Chr10:75025118 [GRCh38]
Chr10:76784876 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3117A>G (p.Val1039=) single nucleotide variant Genitopatellar syndrome [RCV002118609]|Genitopatellar syndrome [RCV002508082] Chr10:75021976 [GRCh38]
Chr10:76781734 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6129C>T (p.His2043=) single nucleotide variant Genitopatellar syndrome [RCV002204770] Chr10:75030953 [GRCh38]
Chr10:76790711 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5298G>A (p.Leu1766=) single nucleotide variant Genitopatellar syndrome [RCV002158935] Chr10:75030122 [GRCh38]
Chr10:76789880 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4569C>T (p.Val1523=) single nucleotide variant Genitopatellar syndrome [RCV002176883] Chr10:75029393 [GRCh38]
Chr10:76789151 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3900C>G (p.Thr1300=) single nucleotide variant Genitopatellar syndrome [RCV002218266] Chr10:75028724 [GRCh38]
Chr10:76788482 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2926A>C (p.Arg976=) single nucleotide variant Genitopatellar syndrome [RCV002175599] Chr10:75021190 [GRCh38]
Chr10:76780948 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3201G>A (p.Glu1067=) single nucleotide variant Genitopatellar syndrome [RCV002220650] Chr10:75022060 [GRCh38]
Chr10:76781818 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[3] (p.Glu1086_Glu1089dup) microsatellite Genitopatellar syndrome [RCV002200566] Chr10:75022093..75022094 [GRCh38]
Chr10:76781851..76781852 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4311C>T (p.Ala1437=) single nucleotide variant Genitopatellar syndrome [RCV002202299] Chr10:75029135 [GRCh38]
Chr10:76788893 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.510G>A (p.Pro170=) single nucleotide variant Genitopatellar syndrome [RCV002181256]|Genitopatellar syndrome [RCV002500387] Chr10:74843367 [GRCh38]
Chr10:76603125 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.5454C>G (p.Ala1818=) single nucleotide variant Genitopatellar syndrome [RCV002161663] Chr10:75030278 [GRCh38]
Chr10:76790036 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3372+7G>T single nucleotide variant Genitopatellar syndrome [RCV002117596] Chr10:75022238 [GRCh38]
Chr10:76781996 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4251G>A (p.Glu1417=) single nucleotide variant Genitopatellar syndrome [RCV002081841] Chr10:75029075 [GRCh38]
Chr10:76788833 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.876T>C (p.Asp292=) single nucleotide variant Genitopatellar syndrome [RCV002198156] Chr10:74970049 [GRCh38]
Chr10:76729807 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2373+7G>A single nucleotide variant Genitopatellar syndrome [RCV002083772] Chr10:74981935 [GRCh38]
Chr10:76741693 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3801C>T (p.Thr1267=) single nucleotide variant Genitopatellar syndrome [RCV002100383]|Genitopatellar syndrome [RCV002507959] Chr10:75028625 [GRCh38]
Chr10:76788383 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5511C>T (p.Ser1837=) single nucleotide variant Genitopatellar syndrome [RCV002183580] Chr10:75030335 [GRCh38]
Chr10:76790093 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4977A>G (p.Ser1659=) single nucleotide variant Genitopatellar syndrome [RCV002217651] Chr10:75029801 [GRCh38]
Chr10:76789559 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1957T>C (p.Leu653=) single nucleotide variant Genitopatellar syndrome [RCV002141874] Chr10:74976294 [GRCh38]
Chr10:76736052 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.354T>C (p.Leu118=) single nucleotide variant Genitopatellar syndrome [RCV002141695] Chr10:74843211 [GRCh38]
Chr10:76602969 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4505C>G (p.Ser1502Cys) single nucleotide variant not provided [RCV003110091] Chr10:75029329 [GRCh38]
Chr10:76789087 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.978A>C (p.Leu326=) single nucleotide variant Genitopatellar syndrome [RCV003111855] Chr10:74972556 [GRCh38]
Chr10:76732314 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.999A>G (p.Gln333=) single nucleotide variant Genitopatellar syndrome [RCV003112012] Chr10:74972577 [GRCh38]
Chr10:76732335 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4113A>G (p.Glu1371=) single nucleotide variant Genitopatellar syndrome [RCV003115448] Chr10:75028937 [GRCh38]
Chr10:76788695 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1684C>T (p.His562Tyr) single nucleotide variant Genitopatellar syndrome [RCV003117187] Chr10:74976021 [GRCh38]
Chr10:76735779 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.2807A>G (p.His936Arg) single nucleotide variant Genitopatellar syndrome [RCV003115637]|not provided [RCV003420554] Chr10:75020759 [GRCh38]
Chr10:76780517 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NC_000010.10:g.(?_76349020)_(78317046_?)del deletion Genitopatellar syndrome [RCV003116587] Chr10:76349020..78317046 [GRCh37]
Chr10:10q22.2-22.3		 pathogenic
NM_012330.4(KAT6B):c.869C>G (p.Ser290Cys) single nucleotide variant Genitopatellar syndrome [RCV003115030] Chr10:74970042 [GRCh38]
Chr10:76729800 [GRCh37]
Chr10:10q22.2		 likely benign
NC_000010.10:g.(?_75671314)_(79799964_?)dup duplication Genitopatellar syndrome [RCV003116588] Chr10:75671314..79799964 [GRCh37]
Chr10:10q22.2-22.3		 uncertain significance
NC_000010.10:g.(?_76780320)_(76790804_?)dup duplication Genitopatellar syndrome [RCV003116589] Chr10:76780320..76790804 [GRCh37]
Chr10:10q22.2		 uncertain significance
NC_000010.10:g.(?_76736352)_(77198536_?)dup duplication Genitopatellar syndrome [RCV003116590] Chr10:76736352..77198536 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4054del (p.Glu1352fs) deletion See cases [RCV002252425] Chr10:75028877 [GRCh38]
Chr10:76788635 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3665-1G>C single nucleotide variant Genitopatellar syndrome [RCV002226889] Chr10:75028488 [GRCh38]
Chr10:76788246 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4231G>T (p.Glu1411Ter) single nucleotide variant not provided [RCV002251829] Chr10:75029055 [GRCh38]
Chr10:76788813 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4919C>G (p.Ser1640Cys) single nucleotide variant not provided [RCV003234514] Chr10:75029743 [GRCh38]
Chr10:76789501 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2107T>C (p.Ser703Pro) single nucleotide variant not provided [RCV003230125] Chr10:74977429 [GRCh38]
Chr10:76737187 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.541G>A (p.Gly181Ser) single nucleotide variant not provided [RCV003319012] Chr10:74843398 [GRCh38]
Chr10:76603156 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5813C>G (p.Thr1938Ser) single nucleotide variant Inborn genetic diseases [RCV003277571] Chr10:75030637 [GRCh38]
Chr10:76790395 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.996A>G (p.Ala332=) single nucleotide variant not provided [RCV002262284] Chr10:74972574 [GRCh38]
Chr10:76732332 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4937C>G (p.Thr1646Ser) single nucleotide variant not provided [RCV002291912] Chr10:75029761 [GRCh38]
Chr10:76789519 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.802G>A (p.Glu268Lys) single nucleotide variant not provided [RCV002273639] Chr10:74969731 [GRCh38]
Chr10:76729489 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1993+1G>A single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV002272664] Chr10:74976331 [GRCh38]
Chr10:76736089 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.589C>G (p.Pro197Ala) single nucleotide variant not provided [RCV003236193] Chr10:74843446 [GRCh38]
Chr10:76603204 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1876C>T (p.Leu626Phe) single nucleotide variant Genitopatellar syndrome [RCV003236245] Chr10:74976213 [GRCh38]
Chr10:76735971 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala) single nucleotide variant Genitopatellar syndrome [RCV002481078]|not specified [RCV002266448] Chr10:74843443 [GRCh38]
Chr10:76603201 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1A>G (p.Met1Val) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV002287212] Chr10:74842858 [GRCh38]
Chr10:76602616 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.4768G>T (p.Asp1590Tyr) single nucleotide variant not provided [RCV002265296] Chr10:75029592 [GRCh38]
Chr10:76789350 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2666C>G (p.Ser889Cys) single nucleotide variant Genitopatellar syndrome [RCV002297042] Chr10:75020618 [GRCh38]
Chr10:76780376 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2658_2659del (p.Gln886fs) deletion See cases [RCV002287710] Chr10:75020610..75020611 [GRCh38]
Chr10:76780368..76780369 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3775T>C (p.Trp1259Arg) single nucleotide variant not provided [RCV002283105] Chr10:75028599 [GRCh38]
Chr10:76788357 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1160G>C (p.Gly387Ala) single nucleotide variant not provided [RCV002290929] Chr10:74975497 [GRCh38]
Chr10:76735255 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.388G>A (p.Glu130Lys) single nucleotide variant Genitopatellar syndrome [RCV002266605] Chr10:74843245 [GRCh38]
Chr10:76603003 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.130A>T (p.Lys44Ter) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV002283995] Chr10:74842987 [GRCh38]
Chr10:76602745 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.2347C>T (p.Arg783Ter) single nucleotide variant not provided [RCV003154122] Chr10:74981902 [GRCh38]
Chr10:76741660 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.622-4A>G single nucleotide variant not specified [RCV002470091] Chr10:74959966 [GRCh38]
Chr10:76719724 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5356G>T (p.Glu1786Ter) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV002470459] Chr10:75030180 [GRCh38]
Chr10:76789938 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.27T>C (p.Tyr9=) single nucleotide variant Genitopatellar syndrome [RCV002726432] Chr10:74842884 [GRCh38]
Chr10:76602642 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6186C>G (p.Ser2062=) single nucleotide variant Genitopatellar syndrome [RCV002967699] Chr10:75031010 [GRCh38]
Chr10:76790768 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.565A>T (p.Ser189Cys) single nucleotide variant Developmental delay [RCV003154086] Chr10:74843422 [GRCh38]
Chr10:76603180 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4402C>T (p.His1468Tyr) single nucleotide variant Genitopatellar syndrome [RCV002304459] Chr10:75029226 [GRCh38]
Chr10:76788984 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3235G>A (p.Glu1079Lys) single nucleotide variant Genitopatellar syndrome [RCV002304839] Chr10:75022094 [GRCh38]
Chr10:76781852 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.-2C>T single nucleotide variant not provided [RCV002301029] Chr10:74842856 [GRCh38]
Chr10:76602614 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1855C>T (p.His619Tyr) single nucleotide variant not provided [RCV002469640] Chr10:74976192 [GRCh38]
Chr10:76735950 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2124G>C (p.Glu708Asp) single nucleotide variant Genitopatellar syndrome [RCV002295586] Chr10:74979232 [GRCh38]
Chr10:76738990 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.4372A>G (p.Thr1458Ala) single nucleotide variant Genitopatellar syndrome [RCV002299265] Chr10:75029196 [GRCh38]
Chr10:76788954 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.592G>C (p.Val198Leu) single nucleotide variant Genitopatellar syndrome [RCV002295681] Chr10:74843449 [GRCh38]
Chr10:76603207 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.4376T>C (p.Phe1459Ser) single nucleotide variant Genitopatellar syndrome [RCV002300534] Chr10:75029200 [GRCh38]
Chr10:76788958 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.6076G>T (p.Gly2026Cys) single nucleotide variant Genitopatellar syndrome [RCV002295182] Chr10:75030900 [GRCh38]
Chr10:76790658 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4447G>C (p.Ala1483Pro) single nucleotide variant Genitopatellar syndrome [RCV002301953] Chr10:75029271 [GRCh38]
Chr10:76789029 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.673T>G (p.Ser225Ala) single nucleotide variant Genitopatellar syndrome [RCV002303151] Chr10:74960021 [GRCh38]
Chr10:76719779 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1757A>C (p.His586Pro) single nucleotide variant Genitopatellar syndrome [RCV002303242] Chr10:74976094 [GRCh38]
Chr10:76735852 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5057A>G (p.Tyr1686Cys) single nucleotide variant Genitopatellar syndrome [RCV002302174] Chr10:75029881 [GRCh38]
Chr10:76789639 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5584T>C (p.Ser1862Pro) single nucleotide variant Genitopatellar syndrome [RCV002298199] Chr10:75030408 [GRCh38]
Chr10:76790166 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1217G>A (p.Arg406Gln) single nucleotide variant Genitopatellar syndrome [RCV002970935]|not provided [RCV003134561] Chr10:74975554 [GRCh38]
Chr10:76735312 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3409C>A (p.Arg1137Ser) single nucleotide variant Genitopatellar syndrome [RCV002970867] Chr10:75024994 [GRCh38]
Chr10:76784752 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.5146_5147del (p.Gln1716fs) microsatellite Genitopatellar syndrome [RCV003015822] Chr10:75029967..75029968 [GRCh38]
Chr10:76789725..76789726 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4555A>C (p.Asn1519His) single nucleotide variant Genitopatellar syndrome [RCV002750668] Chr10:75029379 [GRCh38]
Chr10:76789137 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2676G>A (p.Lys892=) single nucleotide variant Genitopatellar syndrome [RCV002731078] Chr10:75020628 [GRCh38]
Chr10:76780386 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3296A>G (p.Glu1099Gly) single nucleotide variant Genitopatellar syndrome [RCV003014488] Chr10:75022155 [GRCh38]
Chr10:76781913 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.376C>A (p.Leu126Met) single nucleotide variant Genitopatellar syndrome [RCV002815470] Chr10:74843233 [GRCh38]
Chr10:76602991 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4898A>C (p.Gln1633Pro) single nucleotide variant Genitopatellar syndrome [RCV002967992] Chr10:75029722 [GRCh38]
Chr10:76789480 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4750A>G (p.Ile1584Val) single nucleotide variant Inborn genetic diseases [RCV002860297] Chr10:75029574 [GRCh38]
Chr10:76789332 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3152G>C (p.Ser1051Thr) single nucleotide variant Genitopatellar syndrome [RCV002815559] Chr10:75022011 [GRCh38]
Chr10:76781769 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4956C>T (p.Val1652=) single nucleotide variant Genitopatellar syndrome [RCV002903441]|KAT6B-related condition [RCV003926488] Chr10:75029780 [GRCh38]
Chr10:76789538 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3737A>G (p.Gln1246Arg) single nucleotide variant Genitopatellar syndrome [RCV003530275]|Inborn genetic diseases [RCV002682176] Chr10:75028561 [GRCh38]
Chr10:76788319 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3157C>T (p.Pro1053Ser) single nucleotide variant Genitopatellar syndrome [RCV002993624] Chr10:75022016 [GRCh38]
Chr10:76781774 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.198A>G (p.Lys66=) single nucleotide variant Genitopatellar syndrome [RCV002751048] Chr10:74843055 [GRCh38]
Chr10:76602813 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2042T>A (p.Val681Glu) single nucleotide variant Genitopatellar syndrome [RCV002970866] Chr10:74977364 [GRCh38]
Chr10:76737122 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.1805C>T (p.Ser602Phe) single nucleotide variant Genitopatellar syndrome [RCV002816293] Chr10:74976142 [GRCh38]
Chr10:76735900 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.570A>G (p.Ala190=) single nucleotide variant Genitopatellar syndrome [RCV002947205] Chr10:74843427 [GRCh38]
Chr10:76603185 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1568C>G (p.Ser523Cys) single nucleotide variant Genitopatellar syndrome [RCV002904453] Chr10:74975905 [GRCh38]
Chr10:76735663 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3183G>C (p.Leu1061=) single nucleotide variant Genitopatellar syndrome [RCV002908484] Chr10:75022042 [GRCh38]
Chr10:76781800 [GRCh37]
Chr10:10q22.2		 likely benign
GRCh37/hg19 10q22.2(chr10:76763852-77101087)x3 copy number gain not provided [RCV002475557] Chr10:76763852..77101087 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6154G>A (p.Gly2052Arg) single nucleotide variant Genitopatellar syndrome [RCV002618266] Chr10:75030978 [GRCh38]
Chr10:76790736 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5252C>T (p.Pro1751Leu) single nucleotide variant Inborn genetic diseases [RCV002882621] Chr10:75030076 [GRCh38]
Chr10:76789834 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2220G>A (p.Gln740=) single nucleotide variant Genitopatellar syndrome [RCV002755849] Chr10:74979328 [GRCh38]
Chr10:76739086 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1788G>T (p.Arg596=) single nucleotide variant Genitopatellar syndrome [RCV002967494] Chr10:74976125 [GRCh38]
Chr10:76735883 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2348G>A (p.Arg783Gln) single nucleotide variant Genitopatellar syndrome [RCV002904587] Chr10:74981903 [GRCh38]
Chr10:76741661 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2893T>C (p.Leu965=) single nucleotide variant Genitopatellar syndrome [RCV002903668] Chr10:75021157 [GRCh38]
Chr10:76780915 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5052C>T (p.Ser1684=) single nucleotide variant Genitopatellar syndrome [RCV002971403] Chr10:75029876 [GRCh38]
Chr10:76789634 [GRCh37]
Chr10:10q22.2		 likely benign
GRCh37/hg19 10q22.2(chr10:76780340-76781989)x1 copy number loss not provided [RCV002511650] Chr10:76780340..76781989 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4534G>C (p.Ala1512Pro) single nucleotide variant Genitopatellar syndrome [RCV003016509] Chr10:75029358 [GRCh38]
Chr10:76789116 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3021+13T>G single nucleotide variant Genitopatellar syndrome [RCV002971527] Chr10:75021298 [GRCh38]
Chr10:76781056 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2576T>C (p.Met859Thr) single nucleotide variant Genitopatellar syndrome [RCV002571598]|not specified [RCV002510402] Chr10:74989059 [GRCh38]
Chr10:76748817 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.230del (p.Pro77fs) deletion Genitopatellar syndrome [RCV002839265] Chr10:74843085 [GRCh38]
Chr10:76602843 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3289GAA[4] (p.Glu1101_Glu1104del) microsatellite Genitopatellar syndrome [RCV002994811] Chr10:75022148..75022159 [GRCh38]
Chr10:76781906..76781917 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1073G>A (p.Ser358Asn) single nucleotide variant Genitopatellar syndrome [RCV003074434] Chr10:74975410 [GRCh38]
Chr10:76735168 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1098C>T (p.Phe366=) single nucleotide variant Genitopatellar syndrome [RCV002839362] Chr10:74975435 [GRCh38]
Chr10:76735193 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5693G>A (p.Arg1898Gln) single nucleotide variant Genitopatellar syndrome [RCV003074361]|not provided [RCV003418735] Chr10:75030517 [GRCh38]
Chr10:76790275 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.4191G>A (p.Thr1397=) single nucleotide variant Genitopatellar syndrome [RCV002904900] Chr10:75029015 [GRCh38]
Chr10:76788773 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4668C>T (p.Asp1556=) single nucleotide variant Genitopatellar syndrome [RCV002972222] Chr10:75029492 [GRCh38]
Chr10:76789250 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4609A>G (p.Ile1537Val) single nucleotide variant Genitopatellar syndrome [RCV002613496] Chr10:75029433 [GRCh38]
Chr10:76789191 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.3282AGA[1] (p.Glu1104del) microsatellite Inborn genetic diseases [RCV002778067] Chr10:75022139..75022141 [GRCh38]
Chr10:76781897..76781899 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3231_3242dup (p.Glu1080_Glu1081insAspGluGluGlu) duplication Genitopatellar syndrome [RCV002861773] Chr10:75022078..75022079 [GRCh38]
Chr10:76781836..76781837 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.928+21_928+26del deletion Genitopatellar syndrome [RCV003033867] Chr10:74970121..74970126 [GRCh38]
Chr10:76729879..76729884 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.228C>T (p.Asn76=) single nucleotide variant Genitopatellar syndrome [RCV003074507] Chr10:74843085 [GRCh38]
Chr10:76602843 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4307C>T (p.Ser1436Phe) single nucleotide variant not provided [RCV002461816] Chr10:75029131 [GRCh38]
Chr10:76788889 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5304G>T (p.Gln1768His) single nucleotide variant Genitopatellar syndrome [RCV002615849] Chr10:75030128 [GRCh38]
Chr10:76789886 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5984A>C (p.Tyr1995Ser) single nucleotide variant Genitopatellar syndrome [RCV003645934]|Inborn genetic diseases [RCV002772561] Chr10:75030808 [GRCh38]
Chr10:76790566 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1844A>G (p.Lys615Arg) single nucleotide variant Genitopatellar syndrome [RCV003017128] Chr10:74976181 [GRCh38]
Chr10:76735939 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1839T>G (p.Ile613Met) single nucleotide variant Genitopatellar syndrome [RCV003015405] Chr10:74976176 [GRCh38]
Chr10:76735934 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3665-20del deletion Genitopatellar syndrome [RCV003015432] Chr10:75028469 [GRCh38]
Chr10:76788227 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4099G>C (p.Glu1367Gln) single nucleotide variant Genitopatellar syndrome [RCV002995781] Chr10:75028923 [GRCh38]
Chr10:76788681 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.4623T>C (p.Thr1541=) single nucleotide variant Genitopatellar syndrome [RCV002843263] Chr10:75029447 [GRCh38]
Chr10:76789205 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4806C>T (p.Ser1602=) single nucleotide variant Genitopatellar syndrome [RCV002727299] Chr10:75029630 [GRCh38]
Chr10:76789388 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.550G>A (p.Ala184Thr) single nucleotide variant Genitopatellar syndrome [RCV002993632] Chr10:74843407 [GRCh38]
Chr10:76603165 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5676G>A (p.Pro1892=) single nucleotide variant Genitopatellar syndrome [RCV002617396] Chr10:75030500 [GRCh38]
Chr10:76790258 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3329C>G (p.Pro1110Arg) single nucleotide variant Genitopatellar syndrome [RCV002843232] Chr10:75022188 [GRCh38]
Chr10:76781946 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2630-11T>C single nucleotide variant Genitopatellar syndrome [RCV003017253] Chr10:75020571 [GRCh38]
Chr10:76780329 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3500G>A (p.Arg1167Lys) single nucleotide variant Genitopatellar syndrome [RCV002614052] Chr10:75025085 [GRCh38]
Chr10:76784843 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2950A>T (p.Ser984Cys) single nucleotide variant Genitopatellar syndrome [RCV002903620] Chr10:75021214 [GRCh38]
Chr10:76780972 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.3992C>G (p.Ala1331Gly) single nucleotide variant Genitopatellar syndrome [RCV002706341] Chr10:75028816 [GRCh38]
Chr10:76788574 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2686G>A (p.Asp896Asn) single nucleotide variant Genitopatellar syndrome [RCV003080796] Chr10:75020638 [GRCh38]
Chr10:76780396 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2724C>T (p.Ser908=) single nucleotide variant Genitopatellar syndrome [RCV002927382] Chr10:75020676 [GRCh38]
Chr10:76780434 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1673G>A (p.Arg558His) single nucleotide variant Genitopatellar syndrome [RCV002909473] Chr10:74976010 [GRCh38]
Chr10:76735768 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1247C>T (p.Thr416Ile) single nucleotide variant Inborn genetic diseases [RCV002887251] Chr10:74975584 [GRCh38]
Chr10:76735342 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2616del (p.Leu873fs) deletion Inborn genetic diseases [RCV002708125] Chr10:74989097 [GRCh38]
Chr10:76748855 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3279GGAAGAAGA[1] (p.Glu1102_Glu1104del) microsatellite Genitopatellar syndrome [RCV002800290] Chr10:75022136..75022144 [GRCh38]
Chr10:76781894..76781902 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1485A>G (p.Pro495=) single nucleotide variant Genitopatellar syndrome [RCV002886092]|KAT6B-related condition [RCV003963385] Chr10:74975822 [GRCh38]
Chr10:76735580 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.4739A>G (p.Gln1580Arg) single nucleotide variant Genitopatellar syndrome [RCV002928162]|not provided [RCV003418656] Chr10:75029563 [GRCh38]
Chr10:76789321 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1030C>A (p.Arg344=) single nucleotide variant Genitopatellar syndrome [RCV002795595] Chr10:74972608 [GRCh38]
Chr10:76732366 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.308G>T (p.Arg103Leu) single nucleotide variant Genitopatellar syndrome [RCV003081497] Chr10:74843165 [GRCh38]
Chr10:76602923 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2744A>G (p.Tyr915Cys) single nucleotide variant Genitopatellar syndrome [RCV002640434]|not provided [RCV003420391] Chr10:75020696 [GRCh38]
Chr10:76780454 [GRCh37]
Chr10:10q22.2		 benign|likely benign
NM_012330.4(KAT6B):c.2495A>T (p.Asn832Ile) single nucleotide variant Genitopatellar syndrome [RCV002886182] Chr10:74985201 [GRCh38]
Chr10:76744959 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.577T>C (p.Ser193Pro) single nucleotide variant Genitopatellar syndrome [RCV002953787] Chr10:74843434 [GRCh38]
Chr10:76603192 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4051G>A (p.Glu1351Lys) single nucleotide variant Inborn genetic diseases [RCV002708066] Chr10:75028875 [GRCh38]
Chr10:76788633 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3344A>C (p.Lys1115Thr) single nucleotide variant Inborn genetic diseases [RCV002708040] Chr10:75022203 [GRCh38]
Chr10:76781961 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5623C>A (p.Gln1875Lys) single nucleotide variant Inborn genetic diseases [RCV002849540] Chr10:75030447 [GRCh38]
Chr10:76790205 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.427A>G (p.Thr143Ala) single nucleotide variant Genitopatellar syndrome [RCV002979871]|Inborn genetic diseases [RCV002979870] Chr10:74843284 [GRCh38]
Chr10:76603042 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1994-8A>C single nucleotide variant Genitopatellar syndrome [RCV002871542] Chr10:74977308 [GRCh38]
Chr10:76737066 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5806G>T (p.Ala1936Ser) single nucleotide variant Genitopatellar syndrome [RCV002786019] Chr10:75030630 [GRCh38]
Chr10:76790388 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.5427G>A (p.Pro1809=) single nucleotide variant Genitopatellar syndrome [RCV002914050] Chr10:75030251 [GRCh38]
Chr10:76790009 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3943G>C (p.Gly1315Arg) single nucleotide variant Genitopatellar syndrome [RCV002952890] Chr10:75028767 [GRCh38]
Chr10:76788525 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1491A>G (p.Pro497=) single nucleotide variant Genitopatellar syndrome [RCV003081298] Chr10:74975828 [GRCh38]
Chr10:76735586 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3923AGG[2] (p.Glu1310del) microsatellite Genitopatellar syndrome [RCV002756847] Chr10:75028746..75028748 [GRCh38]
Chr10:76788504..76788506 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3192G>A (p.Leu1064=) single nucleotide variant Genitopatellar syndrome [RCV003078027] Chr10:75022051 [GRCh38]
Chr10:76781809 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2048G>A (p.Gly683Glu) single nucleotide variant Genitopatellar syndrome [RCV003079575] Chr10:74977370 [GRCh38]
Chr10:76737128 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.846+10G>T single nucleotide variant Genitopatellar syndrome [RCV002885905] Chr10:74969785 [GRCh38]
Chr10:76729543 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1686C>T (p.His562=) single nucleotide variant Genitopatellar syndrome [RCV002866681] Chr10:74976023 [GRCh38]
Chr10:76735781 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6130G>A (p.Gly2044Ser) single nucleotide variant Genitopatellar syndrome [RCV002885691] Chr10:75030954 [GRCh38]
Chr10:76790712 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.3456G>A (p.Thr1152=) single nucleotide variant Genitopatellar syndrome [RCV003100351] Chr10:75025041 [GRCh38]
Chr10:76784799 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2997A>G (p.Glu999=) single nucleotide variant Genitopatellar syndrome [RCV002885486] Chr10:75021261 [GRCh38]
Chr10:76781019 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4068_4085dup (p.Glu1368_Gly1369insGluGluGluGluGluGlu) duplication Genitopatellar syndrome [RCV002619940] Chr10:75028880..75028881 [GRCh38]
Chr10:76788638..76788639 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.628G>A (p.Ala210Thr) single nucleotide variant Genitopatellar syndrome [RCV002736411] Chr10:74959976 [GRCh38]
Chr10:76719734 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2925C>T (p.Ser975=) single nucleotide variant Genitopatellar syndrome [RCV002926644] Chr10:75021189 [GRCh38]
Chr10:76780947 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.735C>T (p.His245=) single nucleotide variant Genitopatellar syndrome [RCV002909460] Chr10:74969664 [GRCh38]
Chr10:76729422 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3252_3290dup (p.Glu1102_Glu1103insAspGluGluGluGluGluGluGluGluGluGluGluGlu) duplication Genitopatellar syndrome [RCV003053136] Chr10:75022093..75022094 [GRCh38]
Chr10:76781851..76781852 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5371A>G (p.Asn1791Asp) single nucleotide variant Genitopatellar syndrome [RCV002926677]|Inborn genetic diseases [RCV002913851] Chr10:75030195 [GRCh38]
Chr10:76789953 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4170A>G (p.Lys1390=) single nucleotide variant Genitopatellar syndrome [RCV003079521] Chr10:75028994 [GRCh38]
Chr10:76788752 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.338G>A (p.Arg113Lys) single nucleotide variant Genitopatellar syndrome [RCV002909929] Chr10:74843195 [GRCh38]
Chr10:76602953 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1388G>A (p.Arg463His) single nucleotide variant Genitopatellar syndrome [RCV002885569] Chr10:74975725 [GRCh38]
Chr10:76735483 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.1551C>T (p.Pro517=) single nucleotide variant Genitopatellar syndrome [RCV002886348] Chr10:74975888 [GRCh38]
Chr10:76735646 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3169dup (p.Glu1057fs) duplication Genitopatellar syndrome [RCV003035407] Chr10:75022024..75022025 [GRCh38]
Chr10:76781782..76781783 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3351G>A (p.Gln1117=) single nucleotide variant Genitopatellar syndrome [RCV002846972] Chr10:75022210 [GRCh38]
Chr10:76781968 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3234_3245del (p.Glu1086_Glu1089del) deletion Genitopatellar syndrome [RCV002619188] Chr10:75022091..75022102 [GRCh38]
Chr10:76781849..76781860 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1911T>C (p.Tyr637=) single nucleotide variant Genitopatellar syndrome [RCV002923839] Chr10:74976248 [GRCh38]
Chr10:76736006 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5547G>T (p.Leu1849Phe) single nucleotide variant Genitopatellar syndrome [RCV002926840] Chr10:75030371 [GRCh38]
Chr10:76790129 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.929-16A>G single nucleotide variant Genitopatellar syndrome [RCV002848439] Chr10:74972491 [GRCh38]
Chr10:76732249 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg) single nucleotide variant Genitopatellar syndrome [RCV002953116] Chr10:74843280 [GRCh38]
Chr10:76603038 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.846T>C (p.Ala282=) single nucleotide variant Genitopatellar syndrome [RCV002619252] Chr10:74969775 [GRCh38]
Chr10:76729533 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.3659G>A (p.Cys1220Tyr) single nucleotide variant Genitopatellar syndrome [RCV003020006] Chr10:75025244 [GRCh38]
Chr10:76785002 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3330C>T (p.Pro1110=) single nucleotide variant Genitopatellar syndrome [RCV002953141] Chr10:75022189 [GRCh38]
Chr10:76781947 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3918G>A (p.Arg1306=) single nucleotide variant Genitopatellar syndrome [RCV003054743] Chr10:75028742 [GRCh38]
Chr10:76788500 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2115+10G>A single nucleotide variant Genitopatellar syndrome [RCV002843958] Chr10:74977447 [GRCh38]
Chr10:76737205 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2186A>G (p.Glu729Gly) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV002795897]|not provided [RCV003418613] Chr10:74979294 [GRCh38]
Chr10:76739052 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2134G>T (p.Gly712Trp) single nucleotide variant Genitopatellar syndrome [RCV002923376] Chr10:74979242 [GRCh38]
Chr10:76739000 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.966G>C (p.Lys322Asn) single nucleotide variant Inborn genetic diseases [RCV002823486] Chr10:74972544 [GRCh38]
Chr10:76732302 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.104C>T (p.Ala35Val) single nucleotide variant Genitopatellar syndrome [RCV002927507] Chr10:74842961 [GRCh38]
Chr10:76602719 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.2515C>T (p.Leu839=) single nucleotide variant Genitopatellar syndrome [RCV002736270] Chr10:74985221 [GRCh38]
Chr10:76744979 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5200_5241dup (p.Ser1747_Val1748insMetLeuGlnGlnThrSerIleSerSerProProThrCysSer) duplication Genitopatellar syndrome [RCV002847987] Chr10:75030016..75030017 [GRCh38]
Chr10:76789774..76789775 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4885A>G (p.Ile1629Val) single nucleotide variant Genitopatellar syndrome [RCV002756888] Chr10:75029709 [GRCh38]
Chr10:76789467 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4279G>T (p.Asp1427Tyr) single nucleotide variant Genitopatellar syndrome [RCV002912445] Chr10:75029103 [GRCh38]
Chr10:76788861 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.2920T>C (p.Cys974Arg) single nucleotide variant Genitopatellar syndrome [RCV002913144]|Inborn genetic diseases [RCV002913143] Chr10:75021184 [GRCh38]
Chr10:76780942 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.4438G>C (p.Asp1480His) single nucleotide variant Genitopatellar syndrome [RCV003018047] Chr10:75029262 [GRCh38]
Chr10:76789020 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1715G>A (p.Arg572His) single nucleotide variant Genitopatellar syndrome [RCV002659613] Chr10:74976052 [GRCh38]
Chr10:76735810 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5665A>G (p.Met1889Val) single nucleotide variant Genitopatellar syndrome [RCV002591588] Chr10:75030489 [GRCh38]
Chr10:76790247 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2490A>G (p.Thr830=) single nucleotide variant Genitopatellar syndrome [RCV002952706]|KAT6B-related condition [RCV003906355] Chr10:74985196 [GRCh38]
Chr10:76744954 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3373-2A>C single nucleotide variant Inborn genetic diseases [RCV002692519] Chr10:75024956 [GRCh38]
Chr10:76784714 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.1929G>A (p.Met643Ile) single nucleotide variant Inborn genetic diseases [RCV002950196] Chr10:74976266 [GRCh38]
Chr10:76736024 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3334A>G (p.Arg1112Gly) single nucleotide variant Genitopatellar syndrome [RCV002926852] Chr10:75022193 [GRCh38]
Chr10:76781951 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.466G>A (p.Ala156Thr) single nucleotide variant Genitopatellar syndrome [RCV002637463] Chr10:74843323 [GRCh38]
Chr10:76603081 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5866G>A (p.Ala1956Thr) single nucleotide variant Genitopatellar syndrome [RCV002913912] Chr10:75030690 [GRCh38]
Chr10:76790448 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.929-10A>G single nucleotide variant Genitopatellar syndrome [RCV002706509] Chr10:74972497 [GRCh38]
Chr10:76732255 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5559A>G (p.Leu1853=) single nucleotide variant Genitopatellar syndrome [RCV002927587] Chr10:75030383 [GRCh38]
Chr10:76790141 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1035G>A (p.Pro345=) single nucleotide variant Genitopatellar syndrome [RCV003100472] Chr10:74972613 [GRCh38]
Chr10:76732371 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3382G>A (p.Val1128Ile) single nucleotide variant Genitopatellar syndrome [RCV002848329]|not provided [RCV003418623] Chr10:75024967 [GRCh38]
Chr10:76784725 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.582G>A (p.Ser194=) single nucleotide variant Genitopatellar syndrome [RCV002637601]|KAT6B-related condition [RCV003936618] Chr10:74843439 [GRCh38]
Chr10:76603197 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3763G>C (p.Gly1255Arg) single nucleotide variant Genitopatellar syndrome [RCV002912881] Chr10:75028587 [GRCh38]
Chr10:76788345 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6018C>T (p.Tyr2006=) single nucleotide variant Genitopatellar syndrome [RCV002886128] Chr10:75030842 [GRCh38]
Chr10:76790600 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1947G>T (p.Gly649=) single nucleotide variant Genitopatellar syndrome [RCV002852796] Chr10:74976284 [GRCh38]
Chr10:76736042 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3740T>C (p.Val1247Ala) single nucleotide variant Inborn genetic diseases [RCV002854263] Chr10:75028564 [GRCh38]
Chr10:76788322 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3217G>C (p.Glu1073Gln) single nucleotide variant Genitopatellar syndrome [RCV003083641] Chr10:75022076 [GRCh38]
Chr10:76781834 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4071G>A (p.Glu1357=) single nucleotide variant Genitopatellar syndrome [RCV002876168] Chr10:75028895 [GRCh38]
Chr10:76788653 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.928+6C>G single nucleotide variant Genitopatellar syndrome [RCV002645607] Chr10:74970107 [GRCh38]
Chr10:76729865 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.2535+16G>C single nucleotide variant Genitopatellar syndrome [RCV002667026] Chr10:74985257 [GRCh38]
Chr10:76745015 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5065A>G (p.Thr1689Ala) single nucleotide variant Inborn genetic diseases [RCV002919386] Chr10:75029889 [GRCh38]
Chr10:76789647 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.779A>G (p.Lys260Arg) single nucleotide variant Genitopatellar syndrome [RCV002933402] Chr10:74969708 [GRCh38]
Chr10:76729466 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1216C>T (p.Arg406Trp) single nucleotide variant Genitopatellar syndrome [RCV002933433] Chr10:74975553 [GRCh38]
Chr10:76735311 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1855C>G (p.His619Asp) single nucleotide variant Genitopatellar syndrome [RCV002829607] Chr10:74976192 [GRCh38]
Chr10:76735950 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5933A>G (p.Asn1978Ser) single nucleotide variant Inborn genetic diseases [RCV002826479] Chr10:75030757 [GRCh38]
Chr10:76790515 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3704G>A (p.Ser1235Asn) single nucleotide variant Genitopatellar syndrome [RCV002895088] Chr10:75028528 [GRCh38]
Chr10:76788286 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4669G>A (p.Asp1557Asn) single nucleotide variant Genitopatellar syndrome [RCV002876055] Chr10:75029493 [GRCh38]
Chr10:76789251 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2725G>A (p.Val909Ile) single nucleotide variant Genitopatellar syndrome [RCV002765560]|Inborn genetic diseases [RCV002741331] Chr10:75020677 [GRCh38]
Chr10:76780435 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6086G>A (p.Gly2029Asp) single nucleotide variant Genitopatellar syndrome [RCV003005407] Chr10:75030910 [GRCh38]
Chr10:76790668 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1228A>G (p.Thr410Ala) single nucleotide variant Genitopatellar syndrome [RCV002663585] Chr10:74975565 [GRCh38]
Chr10:76735323 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5330C>A (p.Pro1777Gln) single nucleotide variant Genitopatellar syndrome [RCV003084087] Chr10:75030154 [GRCh38]
Chr10:76789912 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1974T>A (p.Ile658=) single nucleotide variant Genitopatellar syndrome [RCV002594744] Chr10:74976311 [GRCh38]
Chr10:76736069 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3998dup (p.Ser1334fs) duplication Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV003223443]|Genitopatellar syndrome [RCV002789989] Chr10:75028821..75028822 [GRCh38]
Chr10:76788579..76788580 [GRCh37]
Chr10:10q22.2		 pathogenic|likely pathogenic
NM_012330.4(KAT6B):c.2845G>A (p.Asp949Asn) single nucleotide variant Genitopatellar syndrome [RCV002982730]|Inborn genetic diseases [RCV003274125] Chr10:75020797 [GRCh38]
Chr10:76780555 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.1935C>A (p.Thr645=) single nucleotide variant Genitopatellar syndrome [RCV003006285] Chr10:74976272 [GRCh38]
Chr10:76736030 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4284C>T (p.Asp1428=) single nucleotide variant Genitopatellar syndrome [RCV002890227] Chr10:75029108 [GRCh38]
Chr10:76788866 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.801C>A (p.Ile267=) single nucleotide variant Genitopatellar syndrome [RCV002919129] Chr10:74969730 [GRCh38]
Chr10:76729488 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6221A>G (p.Ter2074Trp) single nucleotide variant Genitopatellar syndrome [RCV002625486] Chr10:75031045 [GRCh38]
Chr10:76790803 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5187C>T (p.Ser1729=) single nucleotide variant Genitopatellar syndrome [RCV002929083] Chr10:75030011 [GRCh38]
Chr10:76789769 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4921C>T (p.Leu1641=) single nucleotide variant Genitopatellar syndrome [RCV003025864] Chr10:75029745 [GRCh38]
Chr10:76789503 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3855G>T (p.Glu1285Asp) single nucleotide variant Genitopatellar syndrome [RCV003024256] Chr10:75028679 [GRCh38]
Chr10:76788437 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3856C>T (p.Gln1286Ter) single nucleotide variant Genitopatellar syndrome [RCV003024257] Chr10:75028680 [GRCh38]
Chr10:76788438 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.2109T>G (p.Ser703=) single nucleotide variant Genitopatellar syndrome [RCV003084558] Chr10:74977431 [GRCh38]
Chr10:76737189 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3828G>T (p.Pro1276=) single nucleotide variant Genitopatellar syndrome [RCV002575395] Chr10:75028652 [GRCh38]
Chr10:76788410 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2555A>G (p.Lys852Arg) single nucleotide variant Genitopatellar syndrome [RCV003025717] Chr10:74989038 [GRCh38]
Chr10:76748796 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2008A>G (p.Ile670Val) single nucleotide variant Genitopatellar syndrome [RCV002765389] Chr10:74977330 [GRCh38]
Chr10:76737088 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.4730G>A (p.Arg1577His) single nucleotide variant Genitopatellar syndrome [RCV002919058] Chr10:75029554 [GRCh38]
Chr10:76789312 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4051G>C (p.Glu1351Gln) single nucleotide variant Genitopatellar syndrome [RCV002572446] Chr10:75028875 [GRCh38]
Chr10:76788633 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3518A>G (p.Glu1173Gly) single nucleotide variant Genitopatellar syndrome [RCV002928188] Chr10:75025103 [GRCh38]
Chr10:76784861 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2696G>A (p.Arg899His) single nucleotide variant Genitopatellar syndrome [RCV003022893] Chr10:75020648 [GRCh38]
Chr10:76780406 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1697C>T (p.Ala566Val) single nucleotide variant Genitopatellar syndrome [RCV002982996] Chr10:74976034 [GRCh38]
Chr10:76735792 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4575A>G (p.Thr1525=) single nucleotide variant Genitopatellar syndrome [RCV002624101] Chr10:75029399 [GRCh38]
Chr10:76789157 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2719A>G (p.Lys907Glu) single nucleotide variant Inborn genetic diseases [RCV002875127] Chr10:75020671 [GRCh38]
Chr10:76780429 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5698A>G (p.Met1900Val) single nucleotide variant Genitopatellar syndrome [RCV003007831] Chr10:75030522 [GRCh38]
Chr10:76790280 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5434T>C (p.Ser1812Pro) single nucleotide variant Genitopatellar syndrome [RCV002918115] Chr10:75030258 [GRCh38]
Chr10:76790016 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.513G>A (p.Gln171=) single nucleotide variant Genitopatellar syndrome [RCV002890256] Chr10:74843370 [GRCh38]
Chr10:76603128 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1543TCT[1] (p.Ser516del) microsatellite Genitopatellar syndrome [RCV002711401] Chr10:74975878..74975880 [GRCh38]
Chr10:76735636..76735638 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3560C>T (p.Pro1187Leu) single nucleotide variant Inborn genetic diseases [RCV002767199] Chr10:75025145 [GRCh38]
Chr10:76784903 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5818C>G (p.Gln1940Glu) single nucleotide variant Genitopatellar syndrome [RCV002790951] Chr10:75030642 [GRCh38]
Chr10:76790400 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.894A>G (p.Glu298=) single nucleotide variant Genitopatellar syndrome [RCV003057246] Chr10:74970067 [GRCh38]
Chr10:76729825 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4762C>T (p.Leu1588Phe) single nucleotide variant Genitopatellar syndrome [RCV002766778] Chr10:75029586 [GRCh38]
Chr10:76789344 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1557C>G (p.Pro519=) single nucleotide variant Genitopatellar syndrome [RCV002766277] Chr10:74975894 [GRCh38]
Chr10:76735652 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4123G>C (p.Gly1375Arg) single nucleotide variant Inborn genetic diseases [RCV002804706] Chr10:75028947 [GRCh38]
Chr10:76788705 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1786C>T (p.Arg596Trp) single nucleotide variant Genitopatellar syndrome [RCV002928182] Chr10:74976123 [GRCh38]
Chr10:76735881 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1017A>G (p.Ala339=) single nucleotide variant Genitopatellar syndrome [RCV003084276] Chr10:74972595 [GRCh38]
Chr10:76732353 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2324A>T (p.His775Leu) single nucleotide variant Genitopatellar syndrome [RCV002891020] Chr10:74981879 [GRCh38]
Chr10:76741637 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3690_3699del (p.Asn1230fs) deletion Genitopatellar syndrome [RCV002789988] Chr10:75028512..75028521 [GRCh38]
Chr10:76788270..76788279 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3252G>A (p.Glu1084=) single nucleotide variant Genitopatellar syndrome [RCV003090558] Chr10:75022111 [GRCh38]
Chr10:76781869 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3258A>T (p.Glu1086Asp) single nucleotide variant Genitopatellar syndrome [RCV003090559] Chr10:75022117 [GRCh38]
Chr10:76781875 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1994-18G>A single nucleotide variant Genitopatellar syndrome [RCV002599188] Chr10:74977298 [GRCh38]
Chr10:76737056 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4437C>T (p.Val1479=) single nucleotide variant Genitopatellar syndrome [RCV002939138]|KAT6B-related condition [RCV003916654] Chr10:75029261 [GRCh38]
Chr10:76789019 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3768A>G (p.Leu1256=) single nucleotide variant Genitopatellar syndrome [RCV003031658] Chr10:75028592 [GRCh38]
Chr10:76788350 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3286G>A (p.Glu1096Lys) single nucleotide variant Genitopatellar syndrome [RCV003030786] Chr10:75022145 [GRCh38]
Chr10:76781903 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4936A>G (p.Thr1646Ala) single nucleotide variant Genitopatellar syndrome [RCV003091989] Chr10:75029760 [GRCh38]
Chr10:76789518 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2612G>A (p.Arg871Gln) single nucleotide variant Genitopatellar syndrome [RCV002967222] Chr10:74989095 [GRCh38]
Chr10:76748853 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.5461C>T (p.Gln1821Ter) single nucleotide variant Genitopatellar syndrome [RCV003066024] Chr10:75030285 [GRCh38]
Chr10:76790043 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4074G>A (p.Glu1358=) single nucleotide variant Genitopatellar syndrome [RCV002650894] Chr10:75028898 [GRCh38]
Chr10:76788656 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2611C>T (p.Arg871Trp) single nucleotide variant Genitopatellar syndrome [RCV003645937]|Inborn genetic diseases [RCV003010575] Chr10:74989094 [GRCh38]
Chr10:76748852 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.3335G>A (p.Arg1112Lys) single nucleotide variant Genitopatellar syndrome [RCV003090834] Chr10:75022194 [GRCh38]
Chr10:76781952 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5950A>G (p.Met1984Val) single nucleotide variant Genitopatellar syndrome [RCV002632998] Chr10:75030774 [GRCh38]
Chr10:76790532 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5493A>G (p.Ser1831=) single nucleotide variant Genitopatellar syndrome [RCV002942007] Chr10:75030317 [GRCh38]
Chr10:76790075 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5870G>A (p.Arg1957Gln) single nucleotide variant Genitopatellar syndrome [RCV002580401] Chr10:75030694 [GRCh38]
Chr10:76790452 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2373+8C>T single nucleotide variant Genitopatellar syndrome [RCV002938872] Chr10:74981936 [GRCh38]
Chr10:76741694 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3155G>C (p.Arg1052Pro) single nucleotide variant Genitopatellar syndrome [RCV002650922] Chr10:75022014 [GRCh38]
Chr10:76781772 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5280G>T (p.Pro1760=) single nucleotide variant Genitopatellar syndrome [RCV002599517] Chr10:75030104 [GRCh38]
Chr10:76789862 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4528del (p.Glu1510fs) deletion Genitopatellar syndrome [RCV002806406] Chr10:75029352 [GRCh38]
Chr10:76789110 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.293C>T (p.Ser98Leu) single nucleotide variant Genitopatellar syndrome [RCV003064227] Chr10:74843150 [GRCh38]
Chr10:76602908 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.441C>G (p.Ala147=) single nucleotide variant Genitopatellar syndrome [RCV002962694] Chr10:74843298 [GRCh38]
Chr10:76603056 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2901C>T (p.His967=) single nucleotide variant Genitopatellar syndrome [RCV002581676] Chr10:75021165 [GRCh38]
Chr10:76780923 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5095T>G (p.Ser1699Ala) single nucleotide variant Genitopatellar syndrome [RCV002833490] Chr10:75029919 [GRCh38]
Chr10:76789677 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5615C>A (p.Pro1872His) single nucleotide variant Inborn genetic diseases [RCV002832470] Chr10:75030439 [GRCh38]
Chr10:76790197 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3256G>C (p.Glu1086Gln) single nucleotide variant Genitopatellar syndrome [RCV002963199] Chr10:75022115 [GRCh38]
Chr10:76781873 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4727C>A (p.Thr1576Asn) single nucleotide variant Genitopatellar syndrome [RCV002895347] Chr10:75029551 [GRCh38]
Chr10:76789309 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.621+7G>A single nucleotide variant Genitopatellar syndrome [RCV002962851] Chr10:74843485 [GRCh38]
Chr10:76603243 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4831G>A (p.Val1611Ile) single nucleotide variant Genitopatellar syndrome [RCV002746307] Chr10:75029655 [GRCh38]
Chr10:76789413 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.5805C>T (p.Ala1935=) single nucleotide variant Genitopatellar syndrome [RCV002937410] Chr10:75030629 [GRCh38]
Chr10:76790387 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3291A>G (p.Glu1097=) single nucleotide variant Genitopatellar syndrome [RCV003060668] Chr10:75022150 [GRCh38]
Chr10:76781908 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3761G>A (p.Arg1254His) single nucleotide variant Genitopatellar syndrome [RCV003088707] Chr10:75028585 [GRCh38]
Chr10:76788343 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1159G>T (p.Gly387Cys) single nucleotide variant Genitopatellar syndrome [RCV002899681] Chr10:74975496 [GRCh38]
Chr10:76735254 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5880G>A (p.Thr1960=) single nucleotide variant Genitopatellar syndrome [RCV002576881] Chr10:75030704 [GRCh38]
Chr10:76790462 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.579C>A (p.Ser193=) single nucleotide variant Genitopatellar syndrome [RCV002856553] Chr10:74843436 [GRCh38]
Chr10:76603194 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4783G>A (p.Asp1595Asn) single nucleotide variant Genitopatellar syndrome [RCV002856592] Chr10:75029607 [GRCh38]
Chr10:76789365 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5788G>A (p.Ala1930Thr) single nucleotide variant Genitopatellar syndrome [RCV003061130] Chr10:75030612 [GRCh38]
Chr10:76790370 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1416G>A (p.Gln472=) single nucleotide variant Genitopatellar syndrome [RCV002963010] Chr10:74975753 [GRCh38]
Chr10:76735511 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.552A>C (p.Ala184=) single nucleotide variant Genitopatellar syndrome [RCV003043783] Chr10:74843409 [GRCh38]
Chr10:76603167 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3505A>G (p.Met1169Val) single nucleotide variant Genitopatellar syndrome [RCV002895261] Chr10:75025090 [GRCh38]
Chr10:76784848 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6010A>G (p.Ser2004Gly) single nucleotide variant Inborn genetic diseases [RCV002939905] Chr10:75030834 [GRCh38]
Chr10:76790592 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3373-18G>A single nucleotide variant Genitopatellar syndrome [RCV002598641] Chr10:75024940 [GRCh38]
Chr10:76784698 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.730+19A>G single nucleotide variant Genitopatellar syndrome [RCV002717391] Chr10:74960097 [GRCh38]
Chr10:76719855 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3310G>A (p.Glu1104Lys) single nucleotide variant Genitopatellar syndrome [RCV002716536] Chr10:75022169 [GRCh38]
Chr10:76781927 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2469A>T (p.Pro823=) single nucleotide variant Genitopatellar syndrome [RCV003028226] Chr10:74985175 [GRCh38]
Chr10:76744933 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4536A>T (p.Ala1512=) single nucleotide variant Genitopatellar syndrome [RCV002632113] Chr10:75029360 [GRCh38]
Chr10:76789118 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4509C>T (p.Asp1503=) single nucleotide variant Genitopatellar syndrome [RCV003087154] Chr10:75029333 [GRCh38]
Chr10:76789091 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5228C>T (p.Pro1743Leu) single nucleotide variant Genitopatellar syndrome [RCV003009651] Chr10:75030052 [GRCh38]
Chr10:76789810 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4816C>T (p.His1606Tyr) single nucleotide variant Genitopatellar syndrome [RCV002631010] Chr10:75029640 [GRCh38]
Chr10:76789398 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.928+1G>T single nucleotide variant Genitopatellar syndrome [RCV002877503] Chr10:74970102 [GRCh38]
Chr10:76729860 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4828T>C (p.Ser1610Pro) single nucleotide variant Genitopatellar syndrome [RCV003009937] Chr10:75029652 [GRCh38]
Chr10:76789410 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.933G>C (p.Met311Ile) single nucleotide variant Genitopatellar syndrome [RCV002895588] Chr10:74972511 [GRCh38]
Chr10:76732269 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3962A>G (p.Gln1321Arg) single nucleotide variant Genitopatellar syndrome [RCV003045429] Chr10:75028786 [GRCh38]
Chr10:76788544 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1170A>T (p.Ala390=) single nucleotide variant Genitopatellar syndrome [RCV003027972] Chr10:74975507 [GRCh38]
Chr10:76735265 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4670A>T (p.Asp1557Val) single nucleotide variant Genitopatellar syndrome [RCV003044879] Chr10:75029494 [GRCh38]
Chr10:76789252 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.847-18T>C single nucleotide variant Genitopatellar syndrome [RCV002900648] Chr10:74970002 [GRCh38]
Chr10:76729760 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1533C>T (p.Ser511=) single nucleotide variant Genitopatellar syndrome [RCV003009487] Chr10:74975870 [GRCh38]
Chr10:76735628 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1497C>T (p.Pro499=) single nucleotide variant Genitopatellar syndrome [RCV003011316] Chr10:74975834 [GRCh38]
Chr10:76735592 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3261G>A (p.Glu1087=) single nucleotide variant Genitopatellar syndrome [RCV003090560] Chr10:75022120 [GRCh38]
Chr10:76781878 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1989T>C (p.Asp663=) single nucleotide variant Genitopatellar syndrome [RCV002675506] Chr10:74976326 [GRCh38]
Chr10:76736084 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4778A>G (p.Gln1593Arg) single nucleotide variant Genitopatellar syndrome [RCV002806660] Chr10:75029602 [GRCh38]
Chr10:76789360 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3294A>G (p.Glu1098=) single nucleotide variant Genitopatellar syndrome [RCV002938577] Chr10:75022153 [GRCh38]
Chr10:76781911 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.758C>T (p.Pro253Leu) single nucleotide variant Genitopatellar syndrome [RCV003090419] Chr10:74969687 [GRCh38]
Chr10:76729445 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6172A>G (p.Asn2058Asp) single nucleotide variant Genitopatellar syndrome [RCV003060276] Chr10:75030996 [GRCh38]
Chr10:76790754 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.846+14C>T single nucleotide variant Genitopatellar syndrome [RCV003087168] Chr10:74969789 [GRCh38]
Chr10:76729547 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5257G>T (p.Gly1753Cys) single nucleotide variant Genitopatellar syndrome [RCV003044054] Chr10:75030081 [GRCh38]
Chr10:76789839 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4690G>A (p.Glu1564Lys) single nucleotide variant Genitopatellar syndrome [RCV002671786] Chr10:75029514 [GRCh38]
Chr10:76789272 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3341C>A (p.Thr1114Lys) single nucleotide variant Genitopatellar syndrome [RCV002933472] Chr10:75022200 [GRCh38]
Chr10:76781958 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5235C>T (p.Thr1745=) single nucleotide variant Genitopatellar syndrome [RCV002602369] Chr10:75030059 [GRCh38]
Chr10:76789817 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.626G>A (p.Arg209His) single nucleotide variant Genitopatellar syndrome [RCV002988591] Chr10:74959974 [GRCh38]
Chr10:76719732 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5333C>G (p.Pro1778Arg) single nucleotide variant Genitopatellar syndrome [RCV002900006]|Inborn genetic diseases [RCV002900005] Chr10:75030157 [GRCh38]
Chr10:76789915 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.428C>T (p.Thr143Ile) single nucleotide variant Genitopatellar syndrome [RCV002814566] Chr10:74843285 [GRCh38]
Chr10:76603043 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3173G>A (p.Arg1058Gln) single nucleotide variant Genitopatellar syndrome [RCV003051191]|not specified [RCV003404041] Chr10:75022032 [GRCh38]
Chr10:76781790 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3227A>T (p.Glu1076Val) single nucleotide variant Genitopatellar syndrome [RCV002654616] Chr10:75022086 [GRCh38]
Chr10:76781844 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1503C>T (p.Ser501=) single nucleotide variant Genitopatellar syndrome [RCV002721393] Chr10:74975840 [GRCh38]
Chr10:76735598 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6061A>T (p.Met2021Leu) single nucleotide variant Genitopatellar syndrome [RCV003051643] Chr10:75030885 [GRCh38]
Chr10:76790643 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2535+10G>A single nucleotide variant Genitopatellar syndrome [RCV002721614] Chr10:74985251 [GRCh38]
Chr10:76745009 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.848A>G (p.Asp283Gly) single nucleotide variant Genitopatellar syndrome [RCV002583209] Chr10:74970021 [GRCh38]
Chr10:76729779 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3270T>A (p.Asp1090Glu) single nucleotide variant Genitopatellar syndrome [RCV002942744] Chr10:75022129 [GRCh38]
Chr10:76781887 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.304C>A (p.Leu102Ile) single nucleotide variant Inborn genetic diseases [RCV002722971] Chr10:74843161 [GRCh38]
Chr10:76602919 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4566A>G (p.Glu1522=) single nucleotide variant Genitopatellar syndrome [RCV003050814] Chr10:75029390 [GRCh38]
Chr10:76789148 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4632C>G (p.Ala1544=) single nucleotide variant Genitopatellar syndrome [RCV002942328] Chr10:75029456 [GRCh38]
Chr10:76789214 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3234GGA[2] (p.Glu1089del) microsatellite Genitopatellar syndrome [RCV003066823] Chr10:75022091..75022093 [GRCh38]
Chr10:76781849..76781851 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3267_3293dup (p.Glu1098_Glu1099insAspGluGluGluGluGluGluGluGlu) duplication Genitopatellar syndrome [RCV003066901] Chr10:75022102..75022103 [GRCh38]
Chr10:76781860..76781861 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6167A>G (p.Tyr2056Cys) single nucleotide variant Genitopatellar syndrome [RCV002606475] Chr10:75030991 [GRCh38]
Chr10:76790749 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6058C>G (p.Pro2020Ala) single nucleotide variant Genitopatellar syndrome [RCV002603238] Chr10:75030882 [GRCh38]
Chr10:76790640 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5091C>T (p.Asn1697=) single nucleotide variant Genitopatellar syndrome [RCV002583208] Chr10:75029915 [GRCh38]
Chr10:76789673 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4357C>T (p.Leu1453=) single nucleotide variant Genitopatellar syndrome [RCV002589518] Chr10:75029181 [GRCh38]
Chr10:76788939 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2568C>T (p.Ser856=) single nucleotide variant Genitopatellar syndrome [RCV003093324] Chr10:74989051 [GRCh38]
Chr10:76748809 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6072G>T (p.Gln2024His) single nucleotide variant Genitopatellar syndrome [RCV002721804] Chr10:75030896 [GRCh38]
Chr10:76790654 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1695T>C (p.Tyr565=) single nucleotide variant Genitopatellar syndrome [RCV003069537] Chr10:74976032 [GRCh38]
Chr10:76735790 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3455C>T (p.Thr1152Met) single nucleotide variant Genitopatellar syndrome [RCV002584569] Chr10:75025040 [GRCh38]
Chr10:76784798 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1728A>G (p.Glu576=) single nucleotide variant Genitopatellar syndrome [RCV002607167] Chr10:74976065 [GRCh38]
Chr10:76735823 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5335A>G (p.Met1779Val) single nucleotide variant Genitopatellar syndrome [RCV003066482] Chr10:75030159 [GRCh38]
Chr10:76789917 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3664+18A>G single nucleotide variant Genitopatellar syndrome [RCV002604491] Chr10:75025267 [GRCh38]
Chr10:76785025 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1584G>A (p.Val528=) single nucleotide variant Genitopatellar syndrome [RCV002611144]|KAT6B-related condition [RCV003926731] Chr10:74975921 [GRCh38]
Chr10:76735679 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2750A>G (p.His917Arg) single nucleotide variant Genitopatellar syndrome [RCV002633682] Chr10:75020702 [GRCh38]
Chr10:76780460 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.774T>C (p.Asn258=) single nucleotide variant Genitopatellar syndrome [RCV002605757] Chr10:74969703 [GRCh38]
Chr10:76729461 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3279G>A (p.Glu1093=) single nucleotide variant Genitopatellar syndrome [RCV002942745] Chr10:75022138 [GRCh38]
Chr10:76781896 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1107G>A (p.Arg369=) single nucleotide variant Genitopatellar syndrome [RCV002589019] Chr10:74975444 [GRCh38]
Chr10:76735202 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5806G>C (p.Ala1936Pro) single nucleotide variant Genitopatellar syndrome [RCV002589068] Chr10:75030630 [GRCh38]
Chr10:76790388 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3372+11G>A single nucleotide variant Genitopatellar syndrome [RCV002944045] Chr10:75022242 [GRCh38]
Chr10:76782000 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4689C>T (p.Ala1563=) single nucleotide variant Genitopatellar syndrome [RCV002635441] Chr10:75029513 [GRCh38]
Chr10:76789271 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4528G>A (p.Glu1510Lys) single nucleotide variant Genitopatellar syndrome [RCV002612078] Chr10:75029352 [GRCh38]
Chr10:76789110 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2862-10C>T single nucleotide variant Genitopatellar syndrome [RCV002589860] Chr10:75021116 [GRCh38]
Chr10:76780874 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5476A>G (p.Thr1826Ala) single nucleotide variant Genitopatellar syndrome [RCV003032073] Chr10:75030300 [GRCh38]
Chr10:76790058 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.830T>A (p.Val277Asp) single nucleotide variant not provided [RCV003154496] Chr10:74969759 [GRCh38]
Chr10:76729517 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3376C>A (p.Pro1126Thr) single nucleotide variant Genitopatellar syndrome [RCV003645950]|Inborn genetic diseases [RCV003279812] Chr10:75024961 [GRCh38]
Chr10:76784719 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.640C>G (p.Pro214Ala) single nucleotide variant not provided [RCV003229286] Chr10:74959988 [GRCh38]
Chr10:76719746 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3988T>A (p.Cys1330Ser) single nucleotide variant Inborn genetic diseases [RCV003205570] Chr10:75028812 [GRCh38]
Chr10:76788570 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.279G>C (p.Lys93Asn) single nucleotide variant Genitopatellar syndrome [RCV003645946]|Inborn genetic diseases [RCV003194230] Chr10:74843136 [GRCh38]
Chr10:76602894 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5311A>G (p.Met1771Val) single nucleotide variant not provided [RCV003129206] Chr10:75030135 [GRCh38]
Chr10:76789893 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3543G>C (p.Glu1181Asp) single nucleotide variant Genitopatellar syndrome [RCV003530279]|Inborn genetic diseases [RCV003164827]|not provided [RCV003133786] Chr10:75025128 [GRCh38]
Chr10:76784886 [GRCh37]
Chr10:10q22.2		 likely benign|uncertain significance
NM_012330.4(KAT6B):c.2279G>A (p.Ser760Asn) single nucleotide variant not provided [RCV003131302] Chr10:74981834 [GRCh38]
Chr10:76741592 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1778T>C (p.Ile593Thr) single nucleotide variant not provided [RCV003131304] Chr10:74976115 [GRCh38]
Chr10:76735873 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2902A>G (p.Met968Val) single nucleotide variant not provided [RCV003133785] Chr10:75021166 [GRCh38]
Chr10:76780924 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3590del (p.Pro1197fs) deletion Genitopatellar syndrome [RCV003140559] Chr10:75025174 [GRCh38]
Chr10:76784932 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3255AGA[3] (p.Glu1089_Asp1090insGlu) microsatellite Genitopatellar syndrome [RCV003142468] Chr10:75022111..75022112 [GRCh38]
Chr10:76781869..76781870 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2918C>T (p.Thr973Ile) single nucleotide variant not provided [RCV003225372] Chr10:75021182 [GRCh38]
Chr10:76780940 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.794_795inv (p.Gln265Pro) inversion not provided [RCV003221688] Chr10:74969723..74969724 [GRCh38]
Chr10:76729481..76729482 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5188G>A (p.Gly1730Arg) single nucleotide variant not provided [RCV003133784] Chr10:75030012 [GRCh38]
Chr10:76789770 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1067T>C (p.Val356Ala) single nucleotide variant not provided [RCV003152230] Chr10:74975404 [GRCh38]
Chr10:76735162 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5302C>T (p.Gln1768Ter) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV003225659] Chr10:75030126 [GRCh38]
Chr10:76789884 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.5309G>C (p.Ser1770Thr) single nucleotide variant not provided [RCV003131301] Chr10:75030133 [GRCh38]
Chr10:76789891 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2284A>C (p.Asn762His) single nucleotide variant not provided [RCV003325062] Chr10:74981839 [GRCh38]
Chr10:76741597 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.782C>G (p.Ala261Gly) single nucleotide variant not provided [RCV003323173] Chr10:74969711 [GRCh38]
Chr10:76729469 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2282A>C (p.Lys761Thr) single nucleotide variant not provided [RCV003325113] Chr10:74981837 [GRCh38]
Chr10:76741595 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.907C>T (p.Pro303Ser) single nucleotide variant not provided [RCV003319908] Chr10:74970080 [GRCh38]
Chr10:76729838 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_012330.4(KAT6B):c.3730T>G (p.Cys1244Gly) single nucleotide variant Genitopatellar syndrome [RCV003777350]|not specified [RCV003324162] Chr10:75028554 [GRCh38]
Chr10:76788312 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_012330.4(KAT6B):c.5609G>C (p.Gly1870Ala) single nucleotide variant Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV003330181] Chr10:75030433 [GRCh38]
Chr10:76790191 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2468C>T (p.Pro823Leu) single nucleotide variant not provided [RCV003328846] Chr10:74985174 [GRCh38]
Chr10:76744932 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2737T>G (p.Tyr913Asp) single nucleotide variant not provided [RCV003329757] Chr10:75020689 [GRCh38]
Chr10:76780447 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3246del (p.Glu1083fs) deletion Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV003338008] Chr10:75022104 [GRCh38]
Chr10:76781862 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.4453dup (p.Cys1485fs) duplication KAT6B-related disorders [RCV003335969] Chr10:75029275..75029276 [GRCh38]
Chr10:76789033..76789034 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.5002A>G (p.Ser1668Gly) single nucleotide variant Genitopatellar syndrome [RCV003333816] Chr10:75029826 [GRCh38]
Chr10:76789584 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.1087A>G (p.Met363Val) single nucleotide variant Genitopatellar syndrome [RCV003645956]|Inborn genetic diseases [RCV003379031] Chr10:74975424 [GRCh38]
Chr10:76735182 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2062G>A (p.Val688Ile) single nucleotide variant Inborn genetic diseases [RCV003358926] Chr10:74977384 [GRCh38]
Chr10:76737142 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2862-5del deletion not provided [RCV003332511] Chr10:75021120 [GRCh38]
Chr10:76780878 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5979_5980dup (p.Gly1994fs) duplication not provided [RCV003332631] Chr10:75030802..75030803 [GRCh38]
Chr10:76790560..76790561 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3378_3381del (p.Phe1127fs) deletion KAT6B-related disorders [RCV003335901] Chr10:75024963..75024966 [GRCh38]
Chr10:76784721..76784724 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.4144C>A (p.Pro1382Thr) single nucleotide variant Genitopatellar syndrome [RCV003873810] Chr10:75028968 [GRCh38]
Chr10:76788726 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2506G>A (p.Gly836Ser) single nucleotide variant Genitopatellar syndrome [RCV003880658] Chr10:74985212 [GRCh38]
Chr10:76744970 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.368G>T (p.Gly123Val) single nucleotide variant KAT6B-related condition [RCV003397420] Chr10:74843225 [GRCh38]
Chr10:76602983 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4592del (p.Asn1531fs) deletion Genitopatellar syndrome [RCV003482189] Chr10:75029414 [GRCh38]
Chr10:76789172 [GRCh37]
Chr10:10q22.2		 pathogenic
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_012330.4(KAT6B):c.2657A>G (p.Gln886Arg) single nucleotide variant KAT6B-related condition [RCV003397740] Chr10:75020609 [GRCh38]
Chr10:76780367 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5646del (p.Asn1883fs) deletion Blepharophimosis - intellectual disability syndrome, SBBYS type [RCV003397193] Chr10:75030465 [GRCh38]
Chr10:76790223 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.846+1G>C single nucleotide variant KAT6B-related condition [RCV003405812] Chr10:74969776 [GRCh38]
Chr10:76729534 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1815C>G (p.Ser605Arg) single nucleotide variant KAT6B-related condition [RCV003391514] Chr10:74976152 [GRCh38]
Chr10:76735910 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3366_3369del (p.Lys1124fs) deletion not provided [RCV003443224] Chr10:75022224..75022227 [GRCh38]
Chr10:76781982..76781985 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.395_397dup (p.Tyr132_Leu133insHis) duplication Genitopatellar syndrome [RCV003645959]|KAT6B-related condition [RCV003397375] Chr10:74843251..74843252 [GRCh38]
Chr10:76603009..76603010 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4738C>G (p.Gln1580Glu) single nucleotide variant KAT6B-related condition [RCV003414247] Chr10:75029562 [GRCh38]
Chr10:76789320 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2861G>A (p.Arg954Lys) single nucleotide variant Genitopatellar syndrome [RCV003530314]|KAT6B-related condition [RCV003397423] Chr10:75020813 [GRCh38]
Chr10:76780571 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2557T>C (p.Tyr853His) single nucleotide variant KAT6B-related condition [RCV003414217] Chr10:74989040 [GRCh38]
Chr10:76748798 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1204A>G (p.Thr402Ala) single nucleotide variant KAT6B-related condition [RCV003416906] Chr10:74975541 [GRCh38]
Chr10:76735299 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1637G>A (p.Gly546Glu) single nucleotide variant KAT6B-related condition [RCV003416978] Chr10:74975974 [GRCh38]
Chr10:76735732 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3802G>A (p.Gly1268Arg) single nucleotide variant not provided [RCV003442415] Chr10:75028626 [GRCh38]
Chr10:76788384 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.621+54C>T single nucleotide variant not provided [RCV003417514] Chr10:74843532 [GRCh38]
Chr10:76603290 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.622-52809T>A single nucleotide variant not provided [RCV003417515] Chr10:74907161 [GRCh38]
Chr10:76666919 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.2015T>A (p.Ile672Asn) single nucleotide variant not provided [RCV003417516] Chr10:74977337 [GRCh38]
Chr10:76737095 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3237G>A (p.Glu1079=) single nucleotide variant Genitopatellar syndrome [RCV003645960]|not provided [RCV003417517] Chr10:75022096 [GRCh38]
Chr10:76781854 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3765T>C (p.Gly1255=) single nucleotide variant not provided [RCV003417518] Chr10:75028589 [GRCh38]
Chr10:76788347 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4062_4070del (p.Glu1366_Glu1368del) deletion not provided [RCV003417519] Chr10:75028881..75028889 [GRCh38]
Chr10:76788639..76788647 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5050A>G (p.Ser1684Gly) single nucleotide variant not provided [RCV003417520] Chr10:75029874 [GRCh38]
Chr10:76789632 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5242G>A (p.Val1748Ile) single nucleotide variant Genitopatellar syndrome [RCV003530317]|not provided [RCV003417521] Chr10:75030066 [GRCh38]
Chr10:76789824 [GRCh37]
Chr10:10q22.2		 benign|uncertain significance
NM_012330.4(KAT6B):c.5381T>C (p.Leu1794Ser) single nucleotide variant not provided [RCV003417522] Chr10:75030205 [GRCh38]
Chr10:76789963 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.573C>G (p.Phe191Leu) single nucleotide variant Genitopatellar syndrome [RCV003530421] Chr10:74843430 [GRCh38]
Chr10:76603188 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4764C>T (p.Leu1588=) single nucleotide variant Genitopatellar syndrome [RCV003530707] Chr10:75029588 [GRCh38]
Chr10:76789346 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5554C>T (p.Pro1852Ser) single nucleotide variant Genitopatellar syndrome [RCV003530836] Chr10:75030378 [GRCh38]
Chr10:76790136 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.881G>A (p.Gly294Glu) single nucleotide variant Genitopatellar syndrome [RCV003530583] Chr10:74970054 [GRCh38]
Chr10:76729812 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2883A>G (p.Glu961=) single nucleotide variant Genitopatellar syndrome [RCV003530846] Chr10:75021147 [GRCh38]
Chr10:76780905 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1800C>T (p.His600=) single nucleotide variant Genitopatellar syndrome [RCV003530848] Chr10:74976137 [GRCh38]
Chr10:76735895 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2861+15C>G single nucleotide variant Genitopatellar syndrome [RCV003646240] Chr10:75020828 [GRCh38]
Chr10:76780586 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3381T>G (p.Phe1127Leu) single nucleotide variant Genitopatellar syndrome [RCV003530456] Chr10:75024966 [GRCh38]
Chr10:76784724 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3665-20G>A single nucleotide variant Genitopatellar syndrome [RCV003530728]|KAT6B-related condition [RCV003901147] Chr10:75028469 [GRCh38]
Chr10:76788227 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4737C>T (p.Asp1579=) single nucleotide variant Genitopatellar syndrome [RCV003530729]|KAT6B-related condition [RCV003909018] Chr10:75029561 [GRCh38]
Chr10:76789319 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3632A>T (p.Asn1211Ile) single nucleotide variant Genitopatellar syndrome [RCV003530734] Chr10:75025217 [GRCh38]
Chr10:76784975 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1849A>C (p.Ile617Leu) single nucleotide variant Genitopatellar syndrome [RCV003530983] Chr10:74976186 [GRCh38]
Chr10:76735944 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.731-14T>C single nucleotide variant Genitopatellar syndrome [RCV003530737] Chr10:74969646 [GRCh38]
Chr10:76729404 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4727C>G (p.Thr1576Ser) single nucleotide variant Genitopatellar syndrome [RCV003530743] Chr10:75029551 [GRCh38]
Chr10:76789309 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2390G>A (p.Ser797Asn) single nucleotide variant Genitopatellar syndrome [RCV003530744] Chr10:74985096 [GRCh38]
Chr10:76744854 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.474C>T (p.Arg158=) single nucleotide variant Genitopatellar syndrome [RCV003530865] Chr10:74843331 [GRCh38]
Chr10:76603089 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.817A>G (p.Ser273Gly) single nucleotide variant Genitopatellar syndrome [RCV003646511] Chr10:74969746 [GRCh38]
Chr10:76729504 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3022-1G>C single nucleotide variant Genitopatellar syndrome [RCV003646526] Chr10:75021880 [GRCh38]
Chr10:76781638 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.3210AGA[4] (p.Glu1076_Asp1077insGlu) microsatellite Genitopatellar syndrome [RCV003530496] Chr10:75022066..75022067 [GRCh38]
Chr10:76781824..76781825 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1805C>A (p.Ser602Tyr) single nucleotide variant Genitopatellar syndrome [RCV003530878] Chr10:74976142 [GRCh38]
Chr10:76735900 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1495C>T (p.Pro499Ser) single nucleotide variant Genitopatellar syndrome [RCV003530881] Chr10:74975832 [GRCh38]
Chr10:76735590 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3293_3294insGGATGAAGAGGAGGA (p.Glu1098_Glu1099insAspGluGluGluGlu) insertion Genitopatellar syndrome [RCV003530882] Chr10:75022150..75022151 [GRCh38]
Chr10:76781908..76781909 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5356G>A (p.Glu1786Lys) single nucleotide variant Genitopatellar syndrome [RCV003825727] Chr10:75030180 [GRCh38]
Chr10:76789938 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4602C>T (p.Thr1534=) single nucleotide variant Genitopatellar syndrome [RCV003879342] Chr10:75029426 [GRCh38]
Chr10:76789184 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1996A>G (p.Thr666Ala) single nucleotide variant Genitopatellar syndrome [RCV003646678] Chr10:74977318 [GRCh38]
Chr10:76737076 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3664+14T>A single nucleotide variant Genitopatellar syndrome [RCV003646680] Chr10:75025263 [GRCh38]
Chr10:76785021 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4657A>T (p.Ser1553Cys) single nucleotide variant Genitopatellar syndrome [RCV003828376] Chr10:75029481 [GRCh38]
Chr10:76789239 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.1815C>T (p.Ser605=) single nucleotide variant Genitopatellar syndrome [RCV003646731] Chr10:74976152 [GRCh38]
Chr10:76735910 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2168T>C (p.Ile723Thr) single nucleotide variant Genitopatellar syndrome [RCV003646738] Chr10:74979276 [GRCh38]
Chr10:76739034 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2822C>T (p.Thr941Ile) single nucleotide variant Genitopatellar syndrome [RCV003646745] Chr10:75020774 [GRCh38]
Chr10:76780532 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3146C>T (p.Pro1049Leu) single nucleotide variant Genitopatellar syndrome [RCV003530414] Chr10:75022005 [GRCh38]
Chr10:76781763 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.6112A>G (p.Met2038Val) single nucleotide variant Genitopatellar syndrome [RCV003530753] Chr10:75030936 [GRCh38]
Chr10:76790694 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5706A>G (p.Ala1902=) single nucleotide variant Genitopatellar syndrome [RCV003530754] Chr10:75030530 [GRCh38]
Chr10:76790288 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.569C>T (p.Ala190Val) single nucleotide variant Genitopatellar syndrome [RCV003530756] Chr10:74843426 [GRCh38]
Chr10:76603184 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.799A>G (p.Ile267Val) single nucleotide variant Genitopatellar syndrome [RCV003530900] Chr10:74969728 [GRCh38]
Chr10:76729486 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3128A>G (p.Asn1043Ser) single nucleotide variant Genitopatellar syndrome [RCV003646754] Chr10:75021987 [GRCh38]
Chr10:76781745 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1449_1451del (p.Thr484del) deletion Genitopatellar syndrome [RCV003530644] Chr10:74975784..74975786 [GRCh38]
Chr10:76735542..76735544 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2405A>G (p.Gln802Arg) single nucleotide variant Genitopatellar syndrome [RCV003530758] Chr10:74985111 [GRCh38]
Chr10:76744869 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4812C>T (p.His1604=) single nucleotide variant Genitopatellar syndrome [RCV003530760] Chr10:75029636 [GRCh38]
Chr10:76789394 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3877A>G (p.Lys1293Glu) single nucleotide variant Genitopatellar syndrome [RCV003646841] Chr10:75028701 [GRCh38]
Chr10:76788459 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1308T>C (p.Asp436=) single nucleotide variant Genitopatellar syndrome [RCV003530766] Chr10:74975645 [GRCh38]
Chr10:76735403 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2790G>A (p.Ala930=) single nucleotide variant Genitopatellar syndrome [RCV003530768] Chr10:75020742 [GRCh38]
Chr10:76780500 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4217A>G (p.Asp1406Gly) single nucleotide variant Genitopatellar syndrome [RCV003530802] Chr10:75029041 [GRCh38]
Chr10:76788799 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.929-18AT[6] microsatellite Genitopatellar syndrome [RCV003530804] Chr10:74972488..74972489 [GRCh38]
Chr10:76732246..76732247 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4648C>G (p.Gln1550Glu) single nucleotide variant Genitopatellar syndrome [RCV003530930] Chr10:75029472 [GRCh38]
Chr10:76789230 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2374-11C>G single nucleotide variant Genitopatellar syndrome [RCV003530518] Chr10:74985069 [GRCh38]
Chr10:76744827 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.728G>A (p.Ser243Asn) single nucleotide variant Genitopatellar syndrome [RCV003530666] Chr10:74960076 [GRCh38]
Chr10:76719834 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5506C>A (p.His1836Asn) single nucleotide variant Genitopatellar syndrome [RCV003530667] Chr10:75030330 [GRCh38]
Chr10:76790088 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1899C>T (p.Gly633=) single nucleotide variant Genitopatellar syndrome [RCV003530810] Chr10:74976236 [GRCh38]
Chr10:76735994 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3852C>T (p.Asp1284=) single nucleotide variant Genitopatellar syndrome [RCV003530934] Chr10:75028676 [GRCh38]
Chr10:76788434 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3289GAA[12] (p.Glu1104_Asn1105insGluGluGluGlu) microsatellite Genitopatellar syndrome [RCV003647128] Chr10:75022147..75022148 [GRCh38]
Chr10:76781905..76781906 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5432C>T (p.Pro1811Leu) single nucleotide variant Genitopatellar syndrome [RCV003530672] Chr10:75030256 [GRCh38]
Chr10:76790014 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1708C>T (p.Arg570Cys) single nucleotide variant Genitopatellar syndrome [RCV003530679] Chr10:74976045 [GRCh38]
Chr10:76735803 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5040C>T (p.Tyr1680=) single nucleotide variant Genitopatellar syndrome [RCV003530821] Chr10:75029864 [GRCh38]
Chr10:76789622 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.680G>A (p.Arg227His) single nucleotide variant Genitopatellar syndrome [RCV003530823] Chr10:74960028 [GRCh38]
Chr10:76719786 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4729C>T (p.Arg1577Cys) single nucleotide variant Genitopatellar syndrome [RCV003530939] Chr10:75029553 [GRCh38]
Chr10:76789311 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5641C>T (p.Pro1881Ser) single nucleotide variant Genitopatellar syndrome [RCV003647195] Chr10:75030465 [GRCh38]
Chr10:76790223 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2726T>C (p.Val909Ala) single nucleotide variant Genitopatellar syndrome [RCV003530684] Chr10:75020678 [GRCh38]
Chr10:76780436 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.222A>G (p.Pro74=) single nucleotide variant Genitopatellar syndrome [RCV003530795] Chr10:74843079 [GRCh38]
Chr10:76602837 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3052T>C (p.Trp1018Arg) single nucleotide variant Genitopatellar syndrome [RCV003530792] Chr10:75021911 [GRCh38]
Chr10:76781669 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1494C>T (p.Thr498=) single nucleotide variant Genitopatellar syndrome [RCV003647236] Chr10:74975831 [GRCh38]
Chr10:76735589 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3400G>A (p.Gly1134Ser) single nucleotide variant Genitopatellar syndrome [RCV003882247] Chr10:75024985 [GRCh38]
Chr10:76784743 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1061+20A>C single nucleotide variant Genitopatellar syndrome [RCV003529847] Chr10:74972659 [GRCh38]
Chr10:76732417 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1756C>G (p.His586Asp) single nucleotide variant Genitopatellar syndrome [RCV003831322] Chr10:74976093 [GRCh38]
Chr10:76735851 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3972C>T (p.Asn1324=) single nucleotide variant Genitopatellar syndrome [RCV003530790] Chr10:75028796 [GRCh38]
Chr10:76788554 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5507A>G (p.His1836Arg) single nucleotide variant Genitopatellar syndrome [RCV003530782] Chr10:75030331 [GRCh38]
Chr10:76790089 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5733A>G (p.Gln1911=) single nucleotide variant Genitopatellar syndrome [RCV003530568] Chr10:75030557 [GRCh38]
Chr10:76790315 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4150G>A (p.Gly1384Ser) single nucleotide variant Genitopatellar syndrome [RCV003530778] Chr10:75028974 [GRCh38]
Chr10:76788732 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4994G>A (p.Ser1665Asn) single nucleotide variant Genitopatellar syndrome [RCV003530506] Chr10:75029818 [GRCh38]
Chr10:76789576 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5070G>A (p.Met1690Ile) single nucleotide variant Genitopatellar syndrome [RCV003646750] Chr10:75029894 [GRCh38]
Chr10:76789652 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1549C>T (p.Pro517Ser) single nucleotide variant Genitopatellar syndrome [RCV003646755] Chr10:74975886 [GRCh38]
Chr10:76735644 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.768A>G (p.Thr256=) single nucleotide variant Genitopatellar syndrome [RCV003877549] Chr10:74969697 [GRCh38]
Chr10:76729455 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4495_4496inv (p.Val1499Thr) inversion Genitopatellar syndrome [RCV003824614] Chr10:75029319..75029320 [GRCh38]
Chr10:76789077..76789078 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5784G>A (p.Lys1928=) single nucleotide variant Genitopatellar syndrome [RCV003646190] Chr10:75030608 [GRCh38]
Chr10:76790366 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3279G>T (p.Glu1093Asp) single nucleotide variant Genitopatellar syndrome [RCV003646812] Chr10:75022138 [GRCh38]
Chr10:76781896 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3136T>C (p.Leu1046=) single nucleotide variant Genitopatellar syndrome [RCV003646815] Chr10:75021995 [GRCh38]
Chr10:76781753 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3331C>T (p.Pro1111Ser) single nucleotide variant Genitopatellar syndrome [RCV003825570] Chr10:75022190 [GRCh38]
Chr10:76781948 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2306A>G (p.Lys769Arg) single nucleotide variant Genitopatellar syndrome [RCV003646256] Chr10:74981861 [GRCh38]
Chr10:76741619 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4526_4528del (p.Gly1509del) deletion Genitopatellar syndrome [RCV003646248] Chr10:75029348..75029350 [GRCh38]
Chr10:76789106..76789108 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.160A>G (p.Ser54Gly) single nucleotide variant Genitopatellar syndrome [RCV003646909] Chr10:74843017 [GRCh38]
Chr10:76602775 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.622C>T (p.Pro208Ser) single nucleotide variant Genitopatellar syndrome [RCV003877023] Chr10:74959970 [GRCh38]
Chr10:76719728 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2744A>C (p.Tyr915Ser) single nucleotide variant Genitopatellar syndrome [RCV003646876] Chr10:75020696 [GRCh38]
Chr10:76780454 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4829C>G (p.Ser1610Cys) single nucleotide variant Genitopatellar syndrome [RCV003646933] Chr10:75029653 [GRCh38]
Chr10:76789411 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1543T>A (p.Ser515Thr) single nucleotide variant Genitopatellar syndrome [RCV003646941] Chr10:74975880 [GRCh38]
Chr10:76735638 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3373-13G>A single nucleotide variant Genitopatellar syndrome [RCV003646942] Chr10:75024945 [GRCh38]
Chr10:76784703 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3712A>G (p.Asn1238Asp) single nucleotide variant Genitopatellar syndrome [RCV003646355] Chr10:75028536 [GRCh38]
Chr10:76788294 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2695C>T (p.Arg899Cys) single nucleotide variant not provided [RCV003487946] Chr10:75020647 [GRCh38]
Chr10:76780405 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5914A>T (p.Met1972Leu) single nucleotide variant not provided [RCV003487944] Chr10:75030738 [GRCh38]
Chr10:76790496 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6149C>T (p.Ala2050Val) single nucleotide variant Genitopatellar syndrome [RCV003647020] Chr10:75030973 [GRCh38]
Chr10:76790731 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.4004C>T (p.Pro1335Leu) single nucleotide variant Genitopatellar syndrome [RCV003647074] Chr10:75028828 [GRCh38]
Chr10:76788586 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1061+13C>A single nucleotide variant Genitopatellar syndrome [RCV003647087] Chr10:74972652 [GRCh38]
Chr10:76732410 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3296_3297insGGAAGA (p.Glu1104_Asn1105insGluGlu) insertion Genitopatellar syndrome [RCV003647091] Chr10:75022150..75022151 [GRCh38]
Chr10:76781908..76781909 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.621+17T>C single nucleotide variant Genitopatellar syndrome [RCV003647107] Chr10:74843495 [GRCh38]
Chr10:76603253 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.527A>G (p.Tyr176Cys) single nucleotide variant Genitopatellar syndrome [RCV003646467] Chr10:74843384 [GRCh38]
Chr10:76603142 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5208G>A (p.Gln1736=) single nucleotide variant Genitopatellar syndrome [RCV003647200] Chr10:75030032 [GRCh38]
Chr10:76789790 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4573A>G (p.Thr1525Ala) single nucleotide variant Genitopatellar syndrome [RCV003647201] Chr10:75029397 [GRCh38]
Chr10:76789155 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.2282A>G (p.Lys761Arg) single nucleotide variant Genitopatellar syndrome [RCV003646627] Chr10:74981837 [GRCh38]
Chr10:76741595 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6152C>G (p.Pro2051Arg) single nucleotide variant Genitopatellar syndrome [RCV003646633] Chr10:75030976 [GRCh38]
Chr10:76790734 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3834A>G (p.Glu1278=) single nucleotide variant Genitopatellar syndrome [RCV003646636] Chr10:75028658 [GRCh38]
Chr10:76788416 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5704G>A (p.Ala1902Thr) single nucleotide variant Genitopatellar syndrome [RCV003647211] Chr10:75030528 [GRCh38]
Chr10:76790286 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4492G>T (p.Ala1498Ser) single nucleotide variant Genitopatellar syndrome [RCV003647230] Chr10:75029316 [GRCh38]
Chr10:76789074 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2963C>A (p.Thr988Asn) single nucleotide variant Genitopatellar syndrome [RCV003646741] Chr10:75021227 [GRCh38]
Chr10:76780985 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3702C>T (p.Gly1234=) single nucleotide variant Genitopatellar syndrome [RCV003646586] Chr10:75028526 [GRCh38]
Chr10:76788284 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4171G>A (p.Glu1391Lys) single nucleotide variant Genitopatellar syndrome [RCV003647177] Chr10:75028995 [GRCh38]
Chr10:76788753 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2717G>A (p.Trp906Ter) single nucleotide variant Genitopatellar syndrome [RCV003530404] Chr10:75020669 [GRCh38]
Chr10:76780427 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2095G>A (p.Ala699Thr) single nucleotide variant Genitopatellar syndrome [RCV003827170] Chr10:74977417 [GRCh38]
Chr10:76737175 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5602G>A (p.Val1868Ile) single nucleotide variant Genitopatellar syndrome [RCV003645965]|not provided [RCV003487945] Chr10:75030426 [GRCh38]
Chr10:76790184 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1849A>G (p.Ile617Val) single nucleotide variant Genitopatellar syndrome [RCV003647241] Chr10:74976186 [GRCh38]
Chr10:76735944 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1026T>C (p.Ile342=) single nucleotide variant Genitopatellar syndrome [RCV003646069] Chr10:74972604 [GRCh38]
Chr10:76732362 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3275A>G (p.Glu1092Gly) single nucleotide variant Genitopatellar syndrome [RCV003646075] Chr10:75022134 [GRCh38]
Chr10:76781892 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1475C>T (p.Ser492Phe) single nucleotide variant Genitopatellar syndrome [RCV003646716] Chr10:74975812 [GRCh38]
Chr10:76735570 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3665-10C>T single nucleotide variant Genitopatellar syndrome [RCV003646149] Chr10:75028479 [GRCh38]
Chr10:76788237 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3300A>G (p.Glu1100=) single nucleotide variant Genitopatellar syndrome [RCV003646704] Chr10:75022159 [GRCh38]
Chr10:76781917 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.361C>T (p.Pro121Ser) single nucleotide variant Genitopatellar syndrome [RCV003646797] Chr10:74843218 [GRCh38]
Chr10:76602976 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.476C>G (p.Ala159Gly) single nucleotide variant Genitopatellar syndrome [RCV003646822] Chr10:74843333 [GRCh38]
Chr10:76603091 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6198C>T (p.Leu2066=) single nucleotide variant Genitopatellar syndrome [RCV003830343] Chr10:75031022 [GRCh38]
Chr10:76790780 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.467C>T (p.Ala156Val) single nucleotide variant Genitopatellar syndrome [RCV003878967] Chr10:74843324 [GRCh38]
Chr10:76603082 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2861+20G>C single nucleotide variant Genitopatellar syndrome [RCV003646287] Chr10:75020833 [GRCh38]
Chr10:76780591 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3072A>G (p.Glu1024=) single nucleotide variant Genitopatellar syndrome [RCV003646301] Chr10:75021931 [GRCh38]
Chr10:76781689 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2116-11C>G single nucleotide variant Genitopatellar syndrome [RCV003646307] Chr10:74979213 [GRCh38]
Chr10:76738971 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4760C>A (p.Thr1587Lys) single nucleotide variant Genitopatellar syndrome [RCV003646901] Chr10:75029584 [GRCh38]
Chr10:76789342 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1002A>C (p.Ile334=) single nucleotide variant Genitopatellar syndrome [RCV003879659] Chr10:74972580 [GRCh38]
Chr10:76732338 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1901G>C (p.Arg634Thr) single nucleotide variant Genitopatellar syndrome [RCV003646912] Chr10:74976238 [GRCh38]
Chr10:76735996 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2655C>A (p.Gly885=) single nucleotide variant Genitopatellar syndrome [RCV003646918] Chr10:75020607 [GRCh38]
Chr10:76780365 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3355G>C (p.Val1119Leu) single nucleotide variant Genitopatellar syndrome [RCV003646326] Chr10:75022214 [GRCh38]
Chr10:76781972 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5918C>G (p.Pro1973Arg) single nucleotide variant Genitopatellar syndrome [RCV003646880] Chr10:75030742 [GRCh38]
Chr10:76790500 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4563G>A (p.Lys1521=) single nucleotide variant Genitopatellar syndrome [RCV003646898] Chr10:75029387 [GRCh38]
Chr10:76789145 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1914A>T (p.Lys638Asn) single nucleotide variant Genitopatellar syndrome [RCV003646376] Chr10:74976251 [GRCh38]
Chr10:76736009 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1932G>A (p.Gly644=) single nucleotide variant Genitopatellar syndrome [RCV003647004] Chr10:74976269 [GRCh38]
Chr10:76736027 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3510A>G (p.Pro1170=) single nucleotide variant Genitopatellar syndrome [RCV003529912] Chr10:75025095 [GRCh38]
Chr10:76784853 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2195C>G (p.Thr732Ser) single nucleotide variant Genitopatellar syndrome [RCV003646450] Chr10:74979303 [GRCh38]
Chr10:76739061 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3228_3242del (p.Asp1077_Glu1081del) deletion Genitopatellar syndrome [RCV003647019] Chr10:75022076..75022090 [GRCh38]
Chr10:76781834..76781848 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3243A>G (p.Glu1081=) single nucleotide variant Genitopatellar syndrome [RCV003647102] Chr10:75022102 [GRCh38]
Chr10:76781860 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4414G>C (p.Glu1472Gln) single nucleotide variant Genitopatellar syndrome [RCV003647110] Chr10:75029238 [GRCh38]
Chr10:76788996 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3249_3257del (p.Glu1087_Glu1089del) deletion Genitopatellar syndrome [RCV003530351] Chr10:75022103..75022111 [GRCh38]
Chr10:76781861..76781869 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4596A>G (p.Pro1532=) single nucleotide variant Genitopatellar syndrome [RCV003530354] Chr10:75029420 [GRCh38]
Chr10:76789178 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4549C>A (p.Gln1517Lys) single nucleotide variant Genitopatellar syndrome [RCV003646408] Chr10:75029373 [GRCh38]
Chr10:76789131 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.658T>C (p.Leu220=) single nucleotide variant Genitopatellar syndrome [RCV003876457] Chr10:74960006 [GRCh38]
Chr10:76719764 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3373-14G>A single nucleotide variant Genitopatellar syndrome [RCV003646316] Chr10:75024944 [GRCh38]
Chr10:76784702 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.292T>A (p.Ser98Thr) single nucleotide variant Genitopatellar syndrome [RCV003646317] Chr10:74843149 [GRCh38]
Chr10:76602907 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.741C>T (p.Ser247=) single nucleotide variant Genitopatellar syndrome [RCV003646576] Chr10:74969670 [GRCh38]
Chr10:76729428 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3730T>C (p.Cys1244Arg) single nucleotide variant Genitopatellar syndrome [RCV003646952] Chr10:75028554 [GRCh38]
Chr10:76788312 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.709_710delinsGT (p.Cys237Val) indel Genitopatellar syndrome [RCV003646332] Chr10:74960057..74960058 [GRCh38]
Chr10:76719815..76719816 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5987G>A (p.Ser1996Asn) single nucleotide variant Genitopatellar syndrome [RCV003646338] Chr10:75030811 [GRCh38]
Chr10:76790569 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3056A>G (p.Glu1019Gly) single nucleotide variant Genitopatellar syndrome [RCV003646594] Chr10:75021915 [GRCh38]
Chr10:76781673 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1794T>C (p.Ile598=) single nucleotide variant Genitopatellar syndrome [RCV003646616] Chr10:74976131 [GRCh38]
Chr10:76735889 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1213A>C (p.Thr405Pro) single nucleotide variant Genitopatellar syndrome [RCV003646622] Chr10:74975550 [GRCh38]
Chr10:76735308 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3021+6G>A single nucleotide variant Genitopatellar syndrome [RCV003646658] Chr10:75021291 [GRCh38]
Chr10:76781049 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3316A>G (p.Ile1106Val) single nucleotide variant Genitopatellar syndrome [RCV003646565] Chr10:75022175 [GRCh38]
Chr10:76781933 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3562G>A (p.Val1188Ile) single nucleotide variant Genitopatellar syndrome [RCV003646570] Chr10:75025147 [GRCh38]
Chr10:76784905 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2861+8C>G single nucleotide variant Genitopatellar syndrome [RCV003647086] Chr10:75020821 [GRCh38]
Chr10:76780579 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1576T>A (p.Cys526Ser) single nucleotide variant Genitopatellar syndrome [RCV003646675] Chr10:74975913 [GRCh38]
Chr10:76735671 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6039G>C (p.Met2013Ile) single nucleotide variant not provided [RCV003487947] Chr10:75030863 [GRCh38]
Chr10:76790621 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3601A>G (p.Arg1201Gly) single nucleotide variant Genitopatellar syndrome [RCV003646510] Chr10:75025186 [GRCh38]
Chr10:76784944 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.840A>C (p.Arg280Ser) single nucleotide variant Genitopatellar syndrome [RCV003646512] Chr10:74969769 [GRCh38]
Chr10:76729527 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3282A>G (p.Glu1094=) single nucleotide variant Genitopatellar syndrome [RCV003646539] Chr10:75022141 [GRCh38]
Chr10:76781899 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.509C>G (p.Pro170Arg) single nucleotide variant Genitopatellar syndrome [RCV003646712] Chr10:74843366 [GRCh38]
Chr10:76603124 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.451C>A (p.Arg151=) single nucleotide variant Genitopatellar syndrome [RCV003647144] Chr10:74843308 [GRCh38]
Chr10:76603066 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4694C>T (p.Thr1565Ile) single nucleotide variant Genitopatellar syndrome [RCV003647157] Chr10:75029518 [GRCh38]
Chr10:76789276 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1906A>G (p.Lys636Glu) single nucleotide variant Genitopatellar syndrome [RCV003646558] Chr10:74976243 [GRCh38]
Chr10:76736001 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2509T>C (p.Cys837Arg) single nucleotide variant Genitopatellar syndrome [RCV003646560] Chr10:74985215 [GRCh38]
Chr10:76744973 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1210C>T (p.Pro404Ser) single nucleotide variant Genitopatellar syndrome [RCV003646580] Chr10:74975547 [GRCh38]
Chr10:76735305 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2101G>A (p.Glu701Lys) single nucleotide variant Genitopatellar syndrome [RCV003646692] Chr10:74977423 [GRCh38]
Chr10:76737181 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1404C>T (p.Val468=) single nucleotide variant Genitopatellar syndrome [RCV003647185] Chr10:74975741 [GRCh38]
Chr10:76735499 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2116-5G>A single nucleotide variant Genitopatellar syndrome [RCV003646589] Chr10:74979219 [GRCh38]
Chr10:76738977 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6109C>A (p.Pro2037Thr) single nucleotide variant Genitopatellar syndrome [RCV003646598] Chr10:75030933 [GRCh38]
Chr10:76790691 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3328C>T (p.Pro1110Ser) single nucleotide variant Genitopatellar syndrome [RCV003647203] Chr10:75022187 [GRCh38]
Chr10:76781945 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3373-1G>A single nucleotide variant Genitopatellar syndrome [RCV003883397] Chr10:75024957 [GRCh38]
Chr10:76784715 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_012330.4(KAT6B):c.2270A>G (p.Tyr757Cys) single nucleotide variant Genitopatellar syndrome [RCV003646799] Chr10:74981825 [GRCh38]
Chr10:76741583 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.1188C>T (p.Ser396=) single nucleotide variant Genitopatellar syndrome [RCV003646811] Chr10:74975525 [GRCh38]
Chr10:76735283 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2862-11T>C single nucleotide variant Genitopatellar syndrome [RCV003647228] Chr10:75021115 [GRCh38]
Chr10:76780873 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3623G>A (p.Gly1208Glu) single nucleotide variant Genitopatellar syndrome [RCV003645984] Chr10:75025208 [GRCh38]
Chr10:76784966 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2933A>G (p.Asn978Ser) single nucleotide variant Genitopatellar syndrome [RCV003646005] Chr10:75021197 [GRCh38]
Chr10:76780955 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4041C>G (p.Leu1347=) single nucleotide variant Genitopatellar syndrome [RCV003646015] Chr10:75028865 [GRCh38]
Chr10:76788623 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3261_3269del (p.Glu1087_Glu1089del) deletion Genitopatellar syndrome [RCV003646825] Chr10:75022118..75022126 [GRCh38]
Chr10:76781876..76781884 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3303A>G (p.Glu1101=) single nucleotide variant Genitopatellar syndrome [RCV003646831] Chr10:75022162 [GRCh38]
Chr10:76781920 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5367C>T (p.Asn1789=) single nucleotide variant Genitopatellar syndrome [RCV003646007] Chr10:75030191 [GRCh38]
Chr10:76789949 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6041A>G (p.Asn2014Ser) single nucleotide variant Genitopatellar syndrome [RCV003646032] Chr10:75030865 [GRCh38]
Chr10:76790623 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4177C>T (p.Pro1393Ser) single nucleotide variant Genitopatellar syndrome [RCV003646846] Chr10:75029001 [GRCh38]
Chr10:76788759 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5754C>T (p.Ala1918=) single nucleotide variant Genitopatellar syndrome [RCV003646852] Chr10:75030578 [GRCh38]
Chr10:76790336 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2238A>C (p.Pro746=) single nucleotide variant Genitopatellar syndrome [RCV003647190] Chr10:74981793 [GRCh38]
Chr10:76741551 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3509C>T (p.Pro1170Leu) single nucleotide variant Genitopatellar syndrome [RCV003646116] Chr10:75025094 [GRCh38]
Chr10:76784852 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4242G>A (p.Glu1414=) single nucleotide variant Genitopatellar syndrome [RCV003646131] Chr10:75029066 [GRCh38]
Chr10:76788824 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2903T>C (p.Met968Thr) single nucleotide variant Genitopatellar syndrome [RCV003646900] Chr10:75021167 [GRCh38]
Chr10:76780925 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4755C>T (p.Ala1585=) single nucleotide variant Genitopatellar syndrome [RCV003646140] Chr10:75029579 [GRCh38]
Chr10:76789337 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.781G>A (p.Ala261Thr) single nucleotide variant Genitopatellar syndrome [RCV003825371] Chr10:74969710 [GRCh38]
Chr10:76729468 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.3252_3269del (p.Glu1084_Glu1089del) deletion Genitopatellar syndrome [RCV003646220] Chr10:75022103..75022120 [GRCh38]
Chr10:76781861..76781878 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.6141G>A (p.Met2047Ile) single nucleotide variant Genitopatellar syndrome [RCV003646229] Chr10:75030965 [GRCh38]
Chr10:76790723 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5357A>C (p.Glu1786Ala) single nucleotide variant Genitopatellar syndrome [RCV003646984] Chr10:75030181 [GRCh38]
Chr10:76789939 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.387A>G (p.Ile129Met) single nucleotide variant Genitopatellar syndrome [RCV003531013] Chr10:74843244 [GRCh38]
Chr10:76603002 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.788G>T (p.Arg263Met) single nucleotide variant Genitopatellar syndrome [RCV003531073] Chr10:74969717 [GRCh38]
Chr10:76729475 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5423A>G (p.Tyr1808Cys) single nucleotide variant Genitopatellar syndrome [RCV003531075] Chr10:75030247 [GRCh38]
Chr10:76790005 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.533G>T (p.Ser178Ile) single nucleotide variant Genitopatellar syndrome [RCV003531079] Chr10:74843390 [GRCh38]
Chr10:76603148 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5992T>C (p.Ser1998Pro) single nucleotide variant Genitopatellar syndrome [RCV003531138] Chr10:75030816 [GRCh38]
Chr10:76790574 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5634G>A (p.Met1878Ile) single nucleotide variant Genitopatellar syndrome [RCV003531162] Chr10:75030458 [GRCh38]
Chr10:76790216 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5263G>A (p.Val1755Met) single nucleotide variant Genitopatellar syndrome [RCV003531276] Chr10:75030087 [GRCh38]
Chr10:76789845 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5093G>A (p.Gly1698Asp) single nucleotide variant Genitopatellar syndrome [RCV003531231] Chr10:75029917 [GRCh38]
Chr10:76789675 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5254C>G (p.Gln1752Glu) single nucleotide variant Genitopatellar syndrome [RCV003531327] Chr10:75030078 [GRCh38]
Chr10:76789836 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2374-3T>C single nucleotide variant Genitopatellar syndrome [RCV003531274] Chr10:74985077 [GRCh38]
Chr10:76744835 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3069del (p.Glu1024fs) deletion Genitopatellar syndrome [RCV003531302] Chr10:75021927 [GRCh38]
Chr10:76781685 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.5920G>A (p.Ala1974Thr) single nucleotide variant Genitopatellar syndrome [RCV003531338] Chr10:75030744 [GRCh38]
Chr10:76790502 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1147A>G (p.Thr383Ala) single nucleotide variant Genitopatellar syndrome [RCV003834456] Chr10:74975484 [GRCh38]
Chr10:76735242 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1145C>A (p.Thr382Asn) single nucleotide variant Genitopatellar syndrome [RCV003834455] Chr10:74975482 [GRCh38]
Chr10:76735240 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.299A>G (p.Asn100Ser) single nucleotide variant Genitopatellar syndrome [RCV003832911] Chr10:74843156 [GRCh38]
Chr10:76602914 [GRCh37]
Chr10:10q22.2		 benign
NM_012330.4(KAT6B):c.5949C>T (p.Asn1983=) single nucleotide variant Genitopatellar syndrome [RCV003849443] Chr10:75030773 [GRCh38]
Chr10:76790531 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.6200A>G (p.Asn2067Ser) single nucleotide variant Genitopatellar syndrome [RCV003531120] Chr10:75031024 [GRCh38]
Chr10:76790782 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.581C>T (p.Ser194Leu) single nucleotide variant Genitopatellar syndrome [RCV003531123] Chr10:74843438 [GRCh38]
Chr10:76603196 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1808C>T (p.Ser603Phe) single nucleotide variant Genitopatellar syndrome [RCV003531130] Chr10:74976145 [GRCh38]
Chr10:76735903 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.318T>C (p.Asp106=) single nucleotide variant Genitopatellar syndrome [RCV003531185] Chr10:74843175 [GRCh38]
Chr10:76602933 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.625C>G (p.Arg209Gly) single nucleotide variant Genitopatellar syndrome [RCV003531263] Chr10:74959973 [GRCh38]
Chr10:76719731 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4033GAT[1] (p.Asp1346del) microsatellite Genitopatellar syndrome [RCV003531111] Chr10:75028857..75028859 [GRCh38]
Chr10:76788615..76788617 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2931C>T (p.Ala977=) single nucleotide variant Genitopatellar syndrome [RCV003531223] Chr10:75021195 [GRCh38]
Chr10:76780953 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3102A>G (p.Gln1034=) single nucleotide variant Genitopatellar syndrome [RCV003855750] Chr10:75021961 [GRCh38]
Chr10:76781719 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5076C>T (p.Gly1692=) single nucleotide variant Genitopatellar syndrome [RCV003531011] Chr10:75029900 [GRCh38]
Chr10:76789658 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4208C>T (p.Ala1403Val) single nucleotide variant Genitopatellar syndrome [RCV003850028] Chr10:75029032 [GRCh38]
Chr10:76788790 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.2231+13G>A single nucleotide variant Genitopatellar syndrome [RCV003531038] Chr10:74979352 [GRCh38]
Chr10:76739110 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.291A>G (p.Gly97=) single nucleotide variant Genitopatellar syndrome [RCV003531034] Chr10:74843148 [GRCh38]
Chr10:76602906 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3021+17T>C single nucleotide variant Genitopatellar syndrome [RCV003531022] Chr10:75021302 [GRCh38]
Chr10:76781060 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2084T>C (p.Val695Ala) single nucleotide variant Genitopatellar syndrome [RCV003531354] Chr10:74977406 [GRCh38]
Chr10:76737164 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4120GGA[2] (p.Gly1376del) microsatellite Genitopatellar syndrome [RCV003854636] Chr10:75028943..75028945 [GRCh38]
Chr10:76788701..76788703 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.5831del (p.Tyr1944fs) deletion Genitopatellar syndrome [RCV003531095] Chr10:75030655 [GRCh38]
Chr10:76790413 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.930G>T (p.Gly310=) single nucleotide variant Genitopatellar syndrome [RCV003852672] Chr10:74972508 [GRCh38]
Chr10:76732266 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1646A>G (p.His549Arg) single nucleotide variant Genitopatellar syndrome [RCV003855220] Chr10:74975983 [GRCh38]
Chr10:76735741 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4065GGA[2] (p.Glu1366_Glu1368del) microsatellite Genitopatellar syndrome [RCV003531320] Chr10:75028887..75028895 [GRCh38]
Chr10:76788645..76788653 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2968A>G (p.Ile990Val) single nucleotide variant Genitopatellar syndrome [RCV003841445] Chr10:75021232 [GRCh38]
Chr10:76780990 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.1251C>T (p.Ser417=) single nucleotide variant Genitopatellar syndrome [RCV003848175] Chr10:74975588 [GRCh38]
Chr10:76735346 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2615T>G (p.Phe872Cys) single nucleotide variant Genitopatellar syndrome [RCV003846751] Chr10:74989098 [GRCh38]
Chr10:76748856 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.4758C>G (p.Thr1586=) single nucleotide variant Genitopatellar syndrome [RCV003819815] Chr10:75029582 [GRCh38]
Chr10:76789340 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.1917G>A (p.Val639=) single nucleotide variant Genitopatellar syndrome [RCV003871438] Chr10:74976254 [GRCh38]
Chr10:76736012 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3671T>A (p.Met1224Lys) single nucleotide variant Genitopatellar syndrome [RCV003818655] Chr10:75028495 [GRCh38]
Chr10:76788253 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3954G>A (p.Leu1318=) single nucleotide variant Genitopatellar syndrome [RCV003868046] Chr10:75028778 [GRCh38]
Chr10:76788536 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.392A>G (p.Lys131Arg) single nucleotide variant KAT6B-related condition [RCV003941439] Chr10:74843249 [GRCh38]
Chr10:76603007 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q22.2(chr10:76733580-77200441)x3 copy number gain not specified [RCV003986881] Chr10:76733580..77200441 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q22.2(chr10:76780949-77088796)x3 copy number gain not specified [RCV003986888] Chr10:76780949..77088796 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.48T>C (p.Ala16=) single nucleotide variant Genitopatellar syndrome [RCV003845131] Chr10:74842905 [GRCh38]
Chr10:76602663 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3373-20A>G single nucleotide variant Genitopatellar syndrome [RCV003847934] Chr10:75024938 [GRCh38]
Chr10:76784696 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.54G>A (p.Gln18=) single nucleotide variant Genitopatellar syndrome [RCV003867777] Chr10:74842911 [GRCh38]
Chr10:76602669 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4908C>T (p.Ile1636=) single nucleotide variant Genitopatellar syndrome [RCV003819416] Chr10:75029732 [GRCh38]
Chr10:76789490 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5806G>A (p.Ala1936Thr) single nucleotide variant Genitopatellar syndrome [RCV003842968] Chr10:75030630 [GRCh38]
Chr10:76790388 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3258_3266del (p.Glu1087_Glu1089del) deletion Genitopatellar syndrome [RCV003846486] Chr10:75022109..75022117 [GRCh38]
Chr10:76781867..76781875 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4297C>T (p.His1433Tyr) single nucleotide variant Genitopatellar syndrome [RCV003818242] Chr10:75029121 [GRCh38]
Chr10:76788879 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3165A>C (p.Thr1055=) single nucleotide variant Genitopatellar syndrome [RCV003821002] Chr10:75022024 [GRCh38]
Chr10:76781782 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3763G>A (p.Gly1255Ser) single nucleotide variant Genitopatellar syndrome [RCV003864557] Chr10:75028587 [GRCh38]
Chr10:76788345 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_012330.4(KAT6B):c.3288_3299del (p.Glu1101_Glu1104del) deletion Genitopatellar syndrome [RCV003854013] Chr10:75022139..75022150 [GRCh38]
Chr10:76781897..76781908 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.4066del (p.Glu1356fs) deletion KAT6B-related condition [RCV003903816] Chr10:75028889 [GRCh38]
Chr10:76788647 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_012330.4(KAT6B):c.3276GGA[1] (p.Glu1104del) microsatellite KAT6B-related condition [RCV003959850] Chr10:75022133..75022135 [GRCh38]
Chr10:76781891..76781893 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.5169G>A (p.Gln1723=) single nucleotide variant KAT6B-related condition [RCV003969424] Chr10:75029993 [GRCh38]
Chr10:76789751 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.3665-14G>A single nucleotide variant KAT6B-related condition [RCV003919654] Chr10:75028475 [GRCh38]
Chr10:76788233 [GRCh37]
Chr10:10q22.2		 likely benign
NM_012330.4(KAT6B):c.2065A>G (p.Thr689Ala) single nucleotide variant KAT6B-related condition [RCV003899882] Chr10:74977387 [GRCh38]
Chr10:76737145 [GRCh37]
Chr10:10q22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2704
Count of miRNA genes:638
Interacting mature miRNAs:740
Transcripts:ENST00000287239, ENST00000372711, ENST00000372714, ENST00000372724, ENST00000372725, ENST00000490365, ENST00000604130
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH48046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,669,617 - 76,669,742UniSTSGRCh37
Build 361076,339,623 - 76,339,748RGDNCBI36
Celera1069,957,875 - 69,958,000RGD
Cytogenetic Map10q22.2UniSTS
HuRef1070,668,182 - 70,668,307UniSTS
GeneMap99-GB4 RH Map10383.37UniSTS
STS-N36096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,633,467 - 76,633,663UniSTSGRCh37
Build 361076,303,473 - 76,303,669RGDNCBI36
Celera1069,921,733 - 69,921,929RGD
Cytogenetic Map10q22.2UniSTS
HuRef1070,632,026 - 70,632,222UniSTS
GeneMap99-GB4 RH Map10380.87UniSTS
RH92572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,792,452 - 76,792,593UniSTSGRCh37
Build 361076,462,458 - 76,462,599RGDNCBI36
Celera1070,080,701 - 70,080,842RGD
Cytogenetic Map10q22.2UniSTS
HuRef1070,791,026 - 70,791,167UniSTS
GeneMap99-GB4 RH Map10383.37UniSTS
MYST4_3804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371076,790,129 - 76,790,881UniSTSGRCh37
Build 361076,460,135 - 76,460,887RGDNCBI36
Celera1070,078,378 - 70,079,130RGD
HuRef1070,788,703 - 70,789,455UniSTS
D2S2965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,121,850 - 145,122,093UniSTSGRCh37
Build 362144,838,320 - 144,838,563RGDNCBI36
Celera2138,834,597 - 138,834,840RGD
Cytogenetic Map10q22.2UniSTS
HuRef1070,611,516 - 70,611,670UniSTS
HuRef2137,112,970 - 137,113,213UniSTS
Marshfield Genetic Map2150.96UniSTS
deCODE Assembly Map2155.97UniSTS
AW534476  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef1070,788,512 - 70,788,664UniSTS
D3S1674  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.43UniSTS


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 965 621 465 18 373 17 1545 533 887 83 864 684 5 240 1096 1
Low 1473 2168 1260 605 1390 447 2810 1649 2846 336 596 928 170 1 964 1692 5 2
Below cutoff 1 202 1 1 188 1 1 14 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA416904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB002381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC063962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF119230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF119231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF217500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL360225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA488537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000287239   ⟹   ENSP00000287239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,600 - 75,032,624 (+)Ensembl
RefSeq Acc Id: ENST00000372711   ⟹   ENSP00000361796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,827,058 - 75,032,285 (+)Ensembl
RefSeq Acc Id: ENST00000372714   ⟹   ENSP00000361799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,562 - 75,031,190 (+)Ensembl
RefSeq Acc Id: ENST00000372724   ⟹   ENSP00000361809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,449 - 75,032,279 (+)Ensembl
RefSeq Acc Id: ENST00000372725   ⟹   ENSP00000361810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,825,499 - 75,032,293 (+)Ensembl
RefSeq Acc Id: ENST00000490365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,976,521 - 75,026,164 (+)Ensembl
RefSeq Acc Id: ENST00000604130   ⟹   ENSP00000496886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,827,137 - 74,842,924 (+)Ensembl
RefSeq Acc Id: ENST00000647554   ⟹   ENSP00000497300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,842,620 - 74,908,597 (+)Ensembl
RefSeq Acc Id: ENST00000647637   ⟹   ENSP00000497620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,881 - 75,022,133 (+)Ensembl
RefSeq Acc Id: ENST00000647642   ⟹   ENSP00000497723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,842,620 - 75,020,787 (+)Ensembl
RefSeq Acc Id: ENST00000647666   ⟹   ENSP00000497307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,600 - 75,022,098 (+)Ensembl
RefSeq Acc Id: ENST00000647890   ⟹   ENSP00000497951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,419 - 74,843,060 (+)Ensembl
RefSeq Acc Id: ENST00000647891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,985,329 - 75,021,954 (+)Ensembl
RefSeq Acc Id: ENST00000648048   ⟹   ENSP00000497325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,600 - 75,028,985 (+)Ensembl
RefSeq Acc Id: ENST00000648159   ⟹   ENSP00000497197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,825,255 - 75,022,123 (+)Ensembl
RefSeq Acc Id: ENST00000648302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,842,864 - 74,972,534 (+)Ensembl
RefSeq Acc Id: ENST00000648369   ⟹   ENSP00000496795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,842,620 - 75,022,125 (+)Ensembl
RefSeq Acc Id: ENST00000648370   ⟹   ENSP00000497804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,825,535 - 75,028,921 (+)Ensembl
RefSeq Acc Id: ENST00000648483   ⟹   ENSP00000498153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,825,614 - 75,022,116 (+)Ensembl
RefSeq Acc Id: ENST00000648539   ⟹   ENSP00000497859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,596 - 74,847,290 (+)Ensembl
RefSeq Acc Id: ENST00000648696   ⟹   ENSP00000497079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,975,946 - 74,989,096 (+)Ensembl
RefSeq Acc Id: ENST00000648725   ⟹   ENSP00000497841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,824,936 - 75,032,284 (+)Ensembl
RefSeq Acc Id: ENST00000648793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1075,017,475 - 75,026,127 (+)Ensembl
RefSeq Acc Id: ENST00000648828   ⟹   ENSP00000497504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,824,927 - 74,842,972 (+)Ensembl
RefSeq Acc Id: ENST00000648892   ⟹   ENSP00000497048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,413 - 75,032,624 (+)Ensembl
RefSeq Acc Id: ENST00000648899   ⟹   ENSP00000497198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,825,558 - 75,022,137 (+)Ensembl
RefSeq Acc Id: ENST00000649006   ⟹   ENSP00000498139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,825,484 - 75,032,237 (+)Ensembl
RefSeq Acc Id: ENST00000649119   ⟹   ENSP00000498103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,825,585 - 74,842,880 (+)Ensembl
RefSeq Acc Id: ENST00000649305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1075,019,638 - 75,024,138 (+)Ensembl
RefSeq Acc Id: ENST00000649375   ⟹   ENSP00000498141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,603 - 75,024,971 (+)Ensembl
RefSeq Acc Id: ENST00000649442   ⟹   ENSP00000498102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,580 - 74,962,584 (+)Ensembl
RefSeq Acc Id: ENST00000649463   ⟹   ENSP00000497166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,825,492 - 75,032,221 (+)Ensembl
RefSeq Acc Id: ENST00000649645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,842,883 - 74,970,271 (+)Ensembl
RefSeq Acc Id: ENST00000649657   ⟹   ENSP00000497491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,552 - 75,022,063 (+)Ensembl
RefSeq Acc Id: ENST00000650048   ⟹   ENSP00000497813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,842,620 - 75,021,987 (+)Ensembl
RefSeq Acc Id: ENST00000650232   ⟹   ENSP00000497570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,825,527 - 75,028,863 (+)Ensembl
RefSeq Acc Id: ENST00000650330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,628 - 74,989,957 (+)Ensembl
RefSeq Acc Id: ENST00000650380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,826,635 - 75,021,967 (+)Ensembl
RefSeq Acc Id: ENST00000650434   ⟹   ENSP00000496881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,825,568 - 74,844,982 (+)Ensembl
RefSeq Acc Id: ENST00000650517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1074,842,620 - 74,970,750 (+)Ensembl
RefSeq Acc Id: ENST00000650610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1075,019,503 - 75,024,232 (+)Ensembl
RefSeq Acc Id: NM_001256468   ⟹   NP_001243397
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 75,032,624 (+)NCBI
GRCh371076,584,685 - 76,792,380 (+)NCBI
HuRef1070,584,503 - 70,790,954 (+)NCBI
CHM1_11076,868,040 - 77,074,125 (+)NCBI
T2T-CHM13v2.01075,700,120 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256469   ⟹   NP_001243398
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 75,032,624 (+)NCBI
GRCh371076,584,685 - 76,792,380 (+)NCBI
HuRef1070,584,503 - 70,790,954 (+)NCBI
CHM1_11076,868,040 - 77,074,125 (+)NCBI
T2T-CHM13v2.01075,700,120 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370132   ⟹   NP_001357061
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,700,120 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370133   ⟹   NP_001357062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370134   ⟹   NP_001357063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370135   ⟹   NP_001357064
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,700,120 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370136   ⟹   NP_001357065
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370137   ⟹   NP_001357066
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,700,120 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370138   ⟹   NP_001357067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370139   ⟹   NP_001357068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,255 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,698,775 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370140   ⟹   NP_001357069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370141   ⟹   NP_001357070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370142   ⟹   NP_001357071
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,700,120 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370143   ⟹   NP_001357072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370144   ⟹   NP_001357073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 75,032,624 (+)NCBI
T2T-CHM13v2.01075,700,120 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012330   ⟹   NP_036462
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 75,032,624 (+)NCBI
GRCh371076,584,685 - 76,792,380 (+)NCBI
Build 361076,256,385 - 76,462,645 (+)NCBI Archive
Celera1069,874,402 - 70,080,888 (+)RGD
HuRef1070,584,503 - 70,790,954 (+)NCBI
CHM1_11076,868,040 - 77,074,125 (+)NCBI
T2T-CHM13v2.01075,700,120 - 75,906,154 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005269664   ⟹   XP_005269721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,824,936 - 75,032,624 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016004   ⟹   XP_016871493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047424911   ⟹   XP_047280867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424912   ⟹   XP_047280868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,824,936 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424913   ⟹   XP_047280869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,824,936 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424915   ⟹   XP_047280871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424916   ⟹   XP_047280872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,824,936 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424917   ⟹   XP_047280873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424918   ⟹   XP_047280874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424919   ⟹   XP_047280875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,824,936 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424920   ⟹   XP_047280876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424921   ⟹   XP_047280877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424922   ⟹   XP_047280878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424923   ⟹   XP_047280879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,824,936 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424924   ⟹   XP_047280880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424926   ⟹   XP_047280882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424927   ⟹   XP_047280883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,824,936 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424928   ⟹   XP_047280884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,479 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_047424929   ⟹   XP_047280885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,824,936 - 75,032,624 (+)NCBI
RefSeq Acc Id: XM_054365351   ⟹   XP_054221326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,238 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365352   ⟹   XP_054221327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,436 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365353   ⟹   XP_054221328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365354   ⟹   XP_054221329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365355   ⟹   XP_054221330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,238 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365356   ⟹   XP_054221331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,700,120 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365357   ⟹   XP_054221332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,186 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365358   ⟹   XP_054221333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,700,120 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365359   ⟹   XP_054221334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,436 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365360   ⟹   XP_054221335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365361   ⟹   XP_054221336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365362   ⟹   XP_054221337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,700,120 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365363   ⟹   XP_054221338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365364   ⟹   XP_054221339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,238 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365365   ⟹   XP_054221340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365366   ⟹   XP_054221341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,700,120 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365367   ⟹   XP_054221342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,436 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365368   ⟹   XP_054221343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,999 - 75,906,154 (+)NCBI
RefSeq Acc Id: XM_054365369   ⟹   XP_054221344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01075,698,238 - 75,906,154 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001243397 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243398 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357061 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357062 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357063 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357064 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357065 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357066 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357067 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357068 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357069 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357070 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357071 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357072 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357073 (Get FASTA)   NCBI Sequence Viewer  
  NP_036462 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269721 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871493 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280867 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280868 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280869 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280871 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280872 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280873 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280874 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280875 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280876 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280877 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280878 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280879 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280880 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280882 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280883 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280884 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280885 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187567 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187568 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187569 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187570 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187571 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187572 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187573 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187574 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187575 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187576 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187577 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187578 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187579 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187580 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187581 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187582 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187583 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187584 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187585 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221326 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221327 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221328 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221329 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221330 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221331 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221332 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221333 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221334 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221335 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221336 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221337 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221338 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221339 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221340 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221341 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221342 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221343 (Get FASTA)   NCBI Sequence Viewer  
  XP_054221344 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF00095 (Get FASTA)   NCBI Sequence Viewer  
  AAF00099 (Get FASTA)   NCBI Sequence Viewer  
  AAF00100 (Get FASTA)   NCBI Sequence Viewer  
  AAH14143 (Get FASTA)   NCBI Sequence Viewer  
  AAH21128 (Get FASTA)   NCBI Sequence Viewer  
  AAH48199 (Get FASTA)   NCBI Sequence Viewer  
  AAI50271 (Get FASTA)   NCBI Sequence Viewer  
  AAI50619 (Get FASTA)   NCBI Sequence Viewer  
  AAL56647 (Get FASTA)   NCBI Sequence Viewer  
  BAA20837 (Get FASTA)   NCBI Sequence Viewer  
  CAH10408 (Get FASTA)   NCBI Sequence Viewer  
  EAW54557 (Get FASTA)   NCBI Sequence Viewer  
  EAW54558 (Get FASTA)   NCBI Sequence Viewer  
  EAW54559 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000287239
  ENSP00000287239.4
  ENSP00000361796.1
  ENSP00000361799
  ENSP00000361799.1
  ENSP00000361809
  ENSP00000361809.2
  ENSP00000361810
  ENSP00000361810.1
  ENSP00000485896.1
  ENSP00000486595.1
  ENSP00000486731.1
  ENSP00000487219.1
  ENSP00000487238.2
  ENSP00000496795.1
  ENSP00000496881.1
  ENSP00000496886.1
  ENSP00000497048
  ENSP00000497048.1
  ENSP00000497079.1
  ENSP00000497166
  ENSP00000497166.1
  ENSP00000497197.1
  ENSP00000497198.1
  ENSP00000497300.1
  ENSP00000497307.1
  ENSP00000497325.1
  ENSP00000497352.1
  ENSP00000497416.1
  ENSP00000497453.1
  ENSP00000497491.1
  ENSP00000497504.1
  ENSP00000497570.1
  ENSP00000497620.1
  ENSP00000497718.1
  ENSP00000497723.1
  ENSP00000497804.1
  ENSP00000497813.1
  ENSP00000497841
  ENSP00000497841.1
  ENSP00000497859.1
  ENSP00000497951.1
  ENSP00000498102.1
  ENSP00000498103.1
  ENSP00000498139.1
  ENSP00000498141.1
  ENSP00000498153.1
GenBank Protein Q8WYB5 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_036462   ⟸   NM_012330
- Peptide Label: isoform 1
- UniProtKB: Q9UKW3 (UniProtKB/Swiss-Prot),   Q9UKW2 (UniProtKB/Swiss-Prot),   Q8WU81 (UniProtKB/Swiss-Prot),   Q86Y05 (UniProtKB/Swiss-Prot),   O15087 (UniProtKB/Swiss-Prot),   Q9UKX0 (UniProtKB/Swiss-Prot),   Q8WYB5 (UniProtKB/Swiss-Prot),   B2RWN8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243397   ⟸   NM_001256468
- Peptide Label: isoform 2
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243398   ⟸   NM_001256469
- Peptide Label: isoform 3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269721   ⟸   XM_005269664
- Peptide Label: isoform X1
- UniProtKB: Q9UKW3 (UniProtKB/Swiss-Prot),   Q9UKW2 (UniProtKB/Swiss-Prot),   Q8WU81 (UniProtKB/Swiss-Prot),   Q86Y05 (UniProtKB/Swiss-Prot),   O15087 (UniProtKB/Swiss-Prot),   Q9UKX0 (UniProtKB/Swiss-Prot),   Q8WYB5 (UniProtKB/Swiss-Prot),   B2RWN8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871493   ⟸   XM_017016004
- Peptide Label: isoform X2
- UniProtKB: B2RWN8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001357068   ⟸   NM_001370139
- Peptide Label: isoform 3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357065   ⟸   NM_001370136
- Peptide Label: isoform 1
- UniProtKB: Q9UKW3 (UniProtKB/Swiss-Prot),   Q9UKW2 (UniProtKB/Swiss-Prot),   Q8WYB5 (UniProtKB/Swiss-Prot),   Q8WU81 (UniProtKB/Swiss-Prot),   Q86Y05 (UniProtKB/Swiss-Prot),   O15087 (UniProtKB/Swiss-Prot),   Q9UKX0 (UniProtKB/Swiss-Prot),   B2RWN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357067   ⟸   NM_001370138
- Peptide Label: isoform 2
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357069   ⟸   NM_001370140
- Peptide Label: isoform 3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357062   ⟸   NM_001370133
- Peptide Label: isoform 5
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357063   ⟸   NM_001370134
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001357070   ⟸   NM_001370141
- Peptide Label: isoform 3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357072   ⟸   NM_001370143
- Peptide Label: isoform 8
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357066   ⟸   NM_001370137
- Peptide Label: isoform 1
- UniProtKB: Q9UKW3 (UniProtKB/Swiss-Prot),   Q9UKW2 (UniProtKB/Swiss-Prot),   Q8WYB5 (UniProtKB/Swiss-Prot),   Q8WU81 (UniProtKB/Swiss-Prot),   Q86Y05 (UniProtKB/Swiss-Prot),   O15087 (UniProtKB/Swiss-Prot),   Q9UKX0 (UniProtKB/Swiss-Prot),   B2RWN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357061   ⟸   NM_001370132
- Peptide Label: isoform 4
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357073   ⟸   NM_001370144
- Peptide Label: isoform 8
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357064   ⟸   NM_001370135
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001357071   ⟸   NM_001370142
- Peptide Label: isoform 3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000497197   ⟸   ENST00000648159
RefSeq Acc Id: ENSP00000497325   ⟸   ENST00000648048
RefSeq Acc Id: ENSP00000497079   ⟸   ENST00000648696
RefSeq Acc Id: ENSP00000497859   ⟸   ENST00000648539
RefSeq Acc Id: ENSP00000498153   ⟸   ENST00000648483
RefSeq Acc Id: ENSP00000497804   ⟸   ENST00000648370
RefSeq Acc Id: ENSP00000496795   ⟸   ENST00000648369
RefSeq Acc Id: ENSP00000497504   ⟸   ENST00000648828
RefSeq Acc Id: ENSP00000497048   ⟸   ENST00000648892
RefSeq Acc Id: ENSP00000497198   ⟸   ENST00000648899
RefSeq Acc Id: ENSP00000497841   ⟸   ENST00000648725
RefSeq Acc Id: ENSP00000497166   ⟸   ENST00000649463
RefSeq Acc Id: ENSP00000498102   ⟸   ENST00000649442
RefSeq Acc Id: ENSP00000498141   ⟸   ENST00000649375
RefSeq Acc Id: ENSP00000498103   ⟸   ENST00000649119
RefSeq Acc Id: ENSP00000497491   ⟸   ENST00000649657
RefSeq Acc Id: ENSP00000498139   ⟸   ENST00000649006
RefSeq Acc Id: ENSP00000361796   ⟸   ENST00000372711
RefSeq Acc Id: ENSP00000361799   ⟸   ENST00000372714
RefSeq Acc Id: ENSP00000361809   ⟸   ENST00000372724
RefSeq Acc Id: ENSP00000361810   ⟸   ENST00000372725
RefSeq Acc Id: ENSP00000496881   ⟸   ENST00000650434
RefSeq Acc Id: ENSP00000497570   ⟸   ENST00000650232
RefSeq Acc Id: ENSP00000497813   ⟸   ENST00000650048
RefSeq Acc Id: ENSP00000287239   ⟸   ENST00000287239
RefSeq Acc Id: ENSP00000496886   ⟸   ENST00000604130
RefSeq Acc Id: ENSP00000497620   ⟸   ENST00000647637
RefSeq Acc Id: ENSP00000497307   ⟸   ENST00000647666
RefSeq Acc Id: ENSP00000497723   ⟸   ENST00000647642
RefSeq Acc Id: ENSP00000497300   ⟸   ENST00000647554
RefSeq Acc Id: ENSP00000497951   ⟸   ENST00000647890
RefSeq Acc Id: XP_047280868   ⟸   XM_047424912
- Peptide Label: isoform X1
- UniProtKB: Q9UKW3 (UniProtKB/Swiss-Prot),   Q9UKW2 (UniProtKB/Swiss-Prot),   Q8WYB5 (UniProtKB/Swiss-Prot),   Q8WU81 (UniProtKB/Swiss-Prot),   Q86Y05 (UniProtKB/Swiss-Prot),   O15087 (UniProtKB/Swiss-Prot),   Q9UKX0 (UniProtKB/Swiss-Prot),   B2RWN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280875   ⟸   XM_047424919
- Peptide Label: isoform X3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280883   ⟸   XM_047424927
- Peptide Label: isoform X5
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280869   ⟸   XM_047424913
- Peptide Label: isoform X2
- UniProtKB: B2RWN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280872   ⟸   XM_047424916
- Peptide Label: isoform X3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280879   ⟸   XM_047424923
- Peptide Label: isoform X5
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280885   ⟸   XM_047424929
- Peptide Label: isoform X6
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280867   ⟸   XM_047424911
- Peptide Label: isoform X1
- UniProtKB: Q9UKW3 (UniProtKB/Swiss-Prot),   Q9UKW2 (UniProtKB/Swiss-Prot),   Q8WYB5 (UniProtKB/Swiss-Prot),   Q8WU81 (UniProtKB/Swiss-Prot),   Q86Y05 (UniProtKB/Swiss-Prot),   O15087 (UniProtKB/Swiss-Prot),   Q9UKX0 (UniProtKB/Swiss-Prot),   B2RWN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280874   ⟸   XM_047424918
- Peptide Label: isoform X3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280878   ⟸   XM_047424922
- Peptide Label: isoform X4
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280880   ⟸   XM_047424924
- Peptide Label: isoform X5
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280876   ⟸   XM_047424920
- Peptide Label: isoform X4
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280884   ⟸   XM_047424928
- Peptide Label: isoform X6
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280873   ⟸   XM_047424917
- Peptide Label: isoform X3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280882   ⟸   XM_047424926
- Peptide Label: isoform X5
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280871   ⟸   XM_047424915
- Peptide Label: isoform X2
- UniProtKB: B2RWN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280877   ⟸   XM_047424921
- Peptide Label: isoform X4
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221332   ⟸   XM_054365357
- Peptide Label: isoform X3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221326   ⟸   XM_054365351
- Peptide Label: isoform X1
- UniProtKB: Q9UKW3 (UniProtKB/Swiss-Prot),   Q9UKW2 (UniProtKB/Swiss-Prot),   Q8WYB5 (UniProtKB/Swiss-Prot),   Q8WU81 (UniProtKB/Swiss-Prot),   Q86Y05 (UniProtKB/Swiss-Prot),   O15087 (UniProtKB/Swiss-Prot),   Q9UKX0 (UniProtKB/Swiss-Prot),   B2RWN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221330   ⟸   XM_054365355
- Peptide Label: isoform X2
- UniProtKB: B2RWN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221339   ⟸   XM_054365364
- Peptide Label: isoform X5
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221344   ⟸   XM_054365369
- Peptide Label: isoform X6
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221327   ⟸   XM_054365352
- Peptide Label: isoform X1
- UniProtKB: Q9UKW3 (UniProtKB/Swiss-Prot),   Q9UKW2 (UniProtKB/Swiss-Prot),   Q8WYB5 (UniProtKB/Swiss-Prot),   Q8WU81 (UniProtKB/Swiss-Prot),   Q86Y05 (UniProtKB/Swiss-Prot),   O15087 (UniProtKB/Swiss-Prot),   Q9UKX0 (UniProtKB/Swiss-Prot),   B2RWN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221334   ⟸   XM_054365359
- Peptide Label: isoform X3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221342   ⟸   XM_054365367
- Peptide Label: isoform X5
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221328   ⟸   XM_054365353
- Peptide Label: isoform X1
- UniProtKB: Q9UKW3 (UniProtKB/Swiss-Prot),   Q9UKW2 (UniProtKB/Swiss-Prot),   Q8WYB5 (UniProtKB/Swiss-Prot),   Q8WU81 (UniProtKB/Swiss-Prot),   Q86Y05 (UniProtKB/Swiss-Prot),   O15087 (UniProtKB/Swiss-Prot),   Q9UKX0 (UniProtKB/Swiss-Prot),   B2RWN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221335   ⟸   XM_054365360
- Peptide Label: isoform X3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221338   ⟸   XM_054365363
- Peptide Label: isoform X4
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221340   ⟸   XM_054365365
- Peptide Label: isoform X5
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221329   ⟸   XM_054365354
- Peptide Label: isoform X2
- UniProtKB: B2RWN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221336   ⟸   XM_054365361
- Peptide Label: isoform X4
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221343   ⟸   XM_054365368
- Peptide Label: isoform X6
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221333   ⟸   XM_054365358
- Peptide Label: isoform X3
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221341   ⟸   XM_054365366
- Peptide Label: isoform X5
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221331   ⟸   XM_054365356
- Peptide Label: isoform X2
- UniProtKB: B2RWN8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054221337   ⟸   XM_054365362
- Peptide Label: isoform X4
- UniProtKB: A7E2B6 (UniProtKB/TrEMBL)
Protein Domains
H15   MYST-type HAT   PHD-type   SAM   SAMD1-like winged helix (WH)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WYB5-F1-model_v2 AlphaFold Q8WYB5 1-2073 view protein structure

Promoters
RGD ID:7217903
Promoter ID:EPDNEW_H14697
Type:initiation region
Name:KAT6B_3
Description:lysine acetyltransferase 6B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14698  EPDNEW_H14699  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,234 - 74,825,294EPDNEW
RGD ID:7217905
Promoter ID:EPDNEW_H14698
Type:initiation region
Name:KAT6B_2
Description:lysine acetyltransferase 6B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14697  EPDNEW_H14699  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,825,582 - 74,825,642EPDNEW
RGD ID:7217907
Promoter ID:EPDNEW_H14699
Type:initiation region
Name:KAT6B_1
Description:lysine acetyltransferase 6B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14697  EPDNEW_H14698  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381074,826,600 - 74,826,660EPDNEW
RGD ID:6787606
Promoter ID:HG_KWN:10127
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:ENST00000372725
Position:
Human AssemblyChrPosition (strand)Source
Build 361076,254,884 - 76,255,384 (+)MPROMDB
RGD ID:6787908
Promoter ID:HG_KWN:10128
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000372714,   ENST00000372724,   NM_012330,   UC001JWM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361076,255,461 - 76,256,492 (+)MPROMDB
RGD ID:6787910
Promoter ID:HG_KWN:10130
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000048773
Position:
Human AssemblyChrPosition (strand)Source
Build 361076,406,151 - 76,406,651 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17582 AgrOrtholog
COSMIC KAT6B COSMIC
Ensembl Genes ENSG00000156650 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000281813 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000287239 ENTREZGENE
  ENST00000287239.10 UniProtKB/Swiss-Prot
  ENST00000372711.2 UniProtKB/Swiss-Prot
  ENST00000372714 ENTREZGENE
  ENST00000372714.6 UniProtKB/Swiss-Prot
  ENST00000372724 ENTREZGENE
  ENST00000372724.6 UniProtKB/Swiss-Prot
  ENST00000372725 ENTREZGENE
  ENST00000372725.6 UniProtKB/Swiss-Prot
  ENST00000604130.1 UniProtKB/TrEMBL
  ENST00000628038.3 UniProtKB/Swiss-Prot
  ENST00000628523.3 UniProtKB/Swiss-Prot
  ENST00000629233.3 UniProtKB/Swiss-Prot
  ENST00000629879.2 UniProtKB/Swiss-Prot
  ENST00000630001.4 UniProtKB/Swiss-Prot
  ENST00000647554.1 UniProtKB/TrEMBL
  ENST00000647630.1 UniProtKB/Swiss-Prot
  ENST00000647637.1 UniProtKB/TrEMBL
  ENST00000647642.1 UniProtKB/TrEMBL
  ENST00000647666.1 UniProtKB/TrEMBL
  ENST00000647890.1 UniProtKB/TrEMBL
  ENST00000648048.1 UniProtKB/TrEMBL
  ENST00000648159.1 UniProtKB/TrEMBL
  ENST00000648369.1 UniProtKB/TrEMBL
  ENST00000648370.1 UniProtKB/TrEMBL
  ENST00000648483.1 UniProtKB/TrEMBL
  ENST00000648539.1 UniProtKB/TrEMBL
  ENST00000648605.1 UniProtKB/Swiss-Prot
  ENST00000648696.1 UniProtKB/TrEMBL
  ENST00000648725 ENTREZGENE
  ENST00000648725.1 UniProtKB/Swiss-Prot
  ENST00000648828.1 UniProtKB/TrEMBL
  ENST00000648892 ENTREZGENE
  ENST00000648892.1 UniProtKB/Swiss-Prot
  ENST00000648899.1 UniProtKB/TrEMBL
  ENST00000649006.1 UniProtKB/Swiss-Prot
  ENST00000649119.1 UniProtKB/TrEMBL
  ENST00000649375.1 UniProtKB/TrEMBL
  ENST00000649442.1 UniProtKB/TrEMBL
  ENST00000649463 ENTREZGENE
  ENST00000649463.1 UniProtKB/Swiss-Prot
  ENST00000649574.1 UniProtKB/Swiss-Prot
  ENST00000649657.1 UniProtKB/TrEMBL
  ENST00000650048.1 UniProtKB/TrEMBL
  ENST00000650232.1 UniProtKB/TrEMBL
  ENST00000650434.1 UniProtKB/TrEMBL
  ENST00000650575.1 UniProtKB/Swiss-Prot
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 ENSG00000156650 GTEx
  ENSG00000281813 GTEx
HGNC ID HGNC:17582 ENTREZGENE
Human Proteome Map KAT6B Human Proteome Map
InterPro Acyl_CoA_acyltransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold 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:23522 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23522 ENTREZGENE
OMIM 605880 OMIM
PANTHER HISTONE ACETYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HISTONE ACETYLTRANSFERASE KAT6B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Linker_histone UniProtKB/TrEMBL
  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 PA134880712 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
  SSF48371 UniProtKB/TrEMBL
  SSF55729 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IRI4_HUMAN UniProtKB/TrEMBL
  A0A3B3IRN9_HUMAN UniProtKB/TrEMBL
  A0A3B3IRV4_HUMAN UniProtKB/TrEMBL
  A0A3B3IS73_HUMAN UniProtKB/TrEMBL
  A0A3B3ISD0_HUMAN UniProtKB/TrEMBL
  A0A3B3ISD5_HUMAN UniProtKB/TrEMBL
  A0A3B3ISF5_HUMAN UniProtKB/TrEMBL
  A0A3B3ISI1_HUMAN UniProtKB/TrEMBL
  A0A3B3ISW3_HUMAN UniProtKB/TrEMBL
  A0A3B3ISX5_HUMAN UniProtKB/TrEMBL
  A0A3B3IT19_HUMAN UniProtKB/TrEMBL
  A0A3B3IT63_HUMAN UniProtKB/TrEMBL
  A0A3B3ITA4_HUMAN UniProtKB/TrEMBL
  A0A3B3ITC3_HUMAN UniProtKB/TrEMBL
  A0A3B3ITI0_HUMAN UniProtKB/TrEMBL
  A0A3B3ITP3_HUMAN UniProtKB/TrEMBL
  A0A3B3ITV5_HUMAN UniProtKB/TrEMBL
  A0A3B3IU70_HUMAN UniProtKB/TrEMBL
  A0A3B3IU71_HUMAN UniProtKB/TrEMBL
  A0A3B3IU93_HUMAN UniProtKB/TrEMBL
  A0A3B3IUA4_HUMAN UniProtKB/TrEMBL
  A7E2B6 ENTREZGENE, UniProtKB/TrEMBL
  B2RWN8 ENTREZGENE, UniProtKB/TrEMBL
  KAT6B_HUMAN UniProtKB/Swiss-Prot
  O15087 ENTREZGENE
  Q86Y05 ENTREZGENE
  Q8WU81 ENTREZGENE
  Q8WYB5 ENTREZGENE
  Q9UKW2 ENTREZGENE
  Q9UKW3 ENTREZGENE
  Q9UKX0 ENTREZGENE
UniProt Secondary O15087 UniProtKB/Swiss-Prot
  Q86Y05 UniProtKB/Swiss-Prot
  Q8WU81 UniProtKB/Swiss-Prot
  Q9UKW2 UniProtKB/Swiss-Prot
  Q9UKW3 UniProtKB/Swiss-Prot
  Q9UKX0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 KAT6B  lysine acetyltransferase 6B    K(lysine) acetyltransferase 6B  Symbol and/or name change 5135510 APPROVED
2011-07-27 KAT6B  K(lysine) acetyltransferase 6B  MYST4  MYST histone acetyltransferase (monocytic leukemia) 4  Symbol and/or name change 5135510 APPROVED