ASXL3 (ASXL transcriptional regulator 3) - Rat Genome Database

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Gene: ASXL3 (ASXL transcriptional regulator 3) Homo sapiens
Analyze
Symbol: ASXL3
Name: ASXL transcriptional regulator 3
RGD ID: 1344717
HGNC Page HGNC:29357
Description: Predicted to enable chromatin binding activity and peroxisome proliferator activated receptor binding activity. Involved in negative regulation of lipid biosynthetic process. Predicted to be located in nucleus. Predicted to be part of PR-DUB complex. Implicated in Bainbridge-Ropers syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: additional sex combs like 3; additional sex combs like 3, transcriptional regulator; additional sex combs like transcriptional regulator 3; additional sex combs-like protein 3; BRPS; KIAA1713; putative Polycomb group protein ASXL3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381833,578,219 - 33,751,195 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1833,578,219 - 33,751,195 (+)EnsemblGRCh38hg38GRCh38
GRCh371831,158,183 - 31,331,159 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361829,412,539 - 29,581,397 (+)NCBINCBI36Build 36hg18NCBI36
Build 341829,573,152 - 29,581,375NCBI
Celera1827,966,488 - 28,135,348 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
HuRef1828,018,302 - 28,187,028 (+)NCBIHuRef
CHM1_11831,085,980 - 31,254,835 (+)NCBICHM1_1
T2T-CHM13v2.01833,769,917 - 33,942,920 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleus  (IEA)
PR-DUB complex  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brain morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of the skeletal system  (IAGP)
Absent speech  (IAGP)
Anteverted nares  (IAGP)
Arachnodactyly  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Breech presentation  (IAGP)
Broad nasal tip  (IAGP)
Bulbous nose  (IAGP)
Caesarian section  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Choanal stenosis  (IAGP)
Contracture of the proximal interphalangeal joint of the 4th finger  (IAGP)
Cryptorchidism  (IAGP)
Death in infancy  (IAGP)
Decreased activity of mitochondrial complex I  (IAGP)
Decreased facial expression  (IAGP)
Deep palmar crease  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Disproportionate tall stature  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hand clenching  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hirsutism  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Infantile muscular hypotonia  (IAGP)
Inferior cerebellar vermis hypoplasia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Large fontanelles  (IAGP)
Laryngomalacia  (IAGP)
Lateral ventricle dilatation  (IAGP)
Long eyelashes  (IAGP)
Long nose  (IAGP)
Low hanging columella  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Metopic synostosis  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Motor stereotypy  (IAGP)
Nasogastric tube feeding  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Open mouth  (IAGP)
Periorbital fullness  (IAGP)
Pes planus  (IAGP)
Polyhydramnios  (IAGP)
Posteriorly rotated ears  (IAGP)
Precocious puberty  (IAGP)
Prominent forehead  (IAGP)
Prominent nasal bridge  (IAGP)
Proptosis  (IAGP)
Recurrent hand flapping  (IAGP)
Recurrent infections  (IAGP)
Retrognathia  (IAGP)
Scaphocephaly  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Severe global developmental delay  (IAGP)
Short chin  (IAGP)
Short columella  (IAGP)
Short nose  (IAGP)
Sleep abnormality  (IAGP)
Sloping forehead  (IAGP)
Sparse hair  (IAGP)
Strabismus  (IAGP)
Supernumerary nipple  (IAGP)
Synophrys  (IAGP)
Thick eyebrow  (IAGP)
Thin eyebrow  (IAGP)
Thin upper lip vermilion  (IAGP)
Trigonocephaly  (IAGP)
Tube feeding  (IAGP)
Ulnar deviation of the hand  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upslanted palpebral fissure  (IAGP)
Vomiting  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10737800   PMID:11214970   PMID:14702039   PMID:15138607   PMID:16344560   PMID:16412590   PMID:18976975   PMID:20379614   PMID:21873635   PMID:23383720   PMID:23736028   PMID:23932459  
PMID:24044690   PMID:24324551   PMID:25450400   PMID:25798074   PMID:25835095   PMID:25856206   PMID:26167880   PMID:26647312   PMID:27075689   PMID:27901041   PMID:28097878   PMID:28100473  
PMID:28431838   PMID:28935813   PMID:29305346   PMID:29785026   PMID:29982334   PMID:30021884   PMID:31182584   PMID:32240826   PMID:32669118   PMID:32696347   PMID:33151654   PMID:33242595  
PMID:33660365   PMID:33751773   PMID:33961781   PMID:34436830   PMID:34536441   PMID:36177608   PMID:36180891   PMID:38297188  


Genomics

Comparative Map Data
ASXL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381833,578,219 - 33,751,195 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1833,578,219 - 33,751,195 (+)EnsemblGRCh38hg38GRCh38
GRCh371831,158,183 - 31,331,159 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361829,412,539 - 29,581,397 (+)NCBINCBI36Build 36hg18NCBI36
Build 341829,573,152 - 29,581,375NCBI
Celera1827,966,488 - 28,135,348 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
HuRef1828,018,302 - 28,187,028 (+)NCBIHuRef
CHM1_11831,085,980 - 31,254,835 (+)NCBICHM1_1
T2T-CHM13v2.01833,769,917 - 33,942,920 (+)NCBIT2T-CHM13v2.0
Asxl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391822,477,195 - 22,663,284 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1822,477,303 - 22,663,072 (+)EnsemblGRCm39 Ensembl
GRCm381822,344,077 - 22,530,227 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1822,344,246 - 22,530,227 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl1822,344,883 - 22,530,227 (+)EnsemblGRCm38mm10GRCm38
MGSCv371822,503,590 - 22,688,728 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361822,565,437 - 22,690,209 (+)NCBIMGSCv36mm8
Celera1822,845,226 - 23,023,574 (+)NCBICelera
Cytogenetic Map18A2NCBI
cM Map1811.96NCBI
Asxl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81813,868,223 - 14,040,867 (+)NCBIGRCr8
mRatBN7.21813,593,529 - 13,766,324 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1813,593,985 - 13,762,427 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01813,322,148 - 13,496,230 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1813,386,133 - 13,491,735 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01813,136,962 - 13,279,378 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41813,969,647 - 14,135,093 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11814,059,261 - 14,161,739 (+)NCBI
Celera1813,635,353 - 13,744,963 (+)NCBICelera
Cytogenetic Map18p12NCBI
Asxl3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540220,605,804 - 20,702,054 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540220,571,209 - 20,704,480 (+)NCBIChiLan1.0ChiLan1.0
ASXL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21750,950,630 - 51,123,663 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11836,643,227 - 36,816,260 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01826,781,382 - 26,953,935 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11830,403,023 - 30,546,237 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1830,403,018 - 30,541,651 (+)Ensemblpanpan1.1panPan2
ASXL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1756,093,897 - 56,251,261 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl756,097,970 - 56,263,622 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha755,526,349 - 55,713,951 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0756,062,998 - 56,250,637 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl756,064,710 - 56,251,111 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1755,749,141 - 55,936,726 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0755,770,762 - 55,958,352 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0756,066,744 - 56,254,382 (-)NCBIUU_Cfam_GSD_1.0
Asxl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494451,735,881 - 51,838,556 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651711,064,987 - 11,165,956 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651711,064,986 - 11,074,992 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASXL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6117,334,259 - 117,518,026 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16117,334,177 - 117,518,589 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26109,712,269 - 109,871,295 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASXL3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11846,988,038 - 47,160,193 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605021,511,623 - 21,680,068 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Asxl3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247798,144,474 - 8,271,269 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247798,099,434 - 8,270,812 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASXL3
619 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_030632.3(ASXL3):c.511G>A (p.Val171Ile) single nucleotide variant Inborn genetic diseases [RCV004039549]|not provided [RCV001664984] Chr18:33670706 [GRCh38]
Chr18:31250670 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.247-151T>C single nucleotide variant not provided [RCV001643565] Chr18:33646094 [GRCh38]
Chr18:31226058 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter) single nucleotide variant Neurodevelopmental disorder [RCV003389054]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265433]|not provided [RCV000521692] Chr18:33744247 [GRCh38]
Chr18:31324211 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.*338C>A single nucleotide variant not provided [RCV001544745] Chr18:33746933 [GRCh38]
Chr18:31326897 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3721_3724dup (p.Ser1242fs) duplication not provided [RCV001291609] Chr18:33743568..33743569 [GRCh38]
Chr18:31323532..31323533 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.5423del (p.Lys1808fs) deletion not provided [RCV000627565] Chr18:33745270 [GRCh38]
Chr18:31325234 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.3964C>T (p.Gln1322Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265431]|not provided [RCV000521542] Chr18:33743812 [GRCh38]
Chr18:31323776 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1210C>T (p.Gln404Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000059321]|not provided [RCV001854240] Chr18:33738614 [GRCh38]
Chr18:31318578 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1396C>T (p.Gln466Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000059322] Chr18:33738800 [GRCh38]
Chr18:31318764 [GRCh37]
Chr18:18q12.1		 pathogenic
ASXL3, 4-BP DEL deletion Bainbridge-Ropers syndrome [RCV000059323] Chr18:18q12.1 pathogenic
NM_030632.3(ASXL3):c.1422dup (p.Glu475Ter) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000059324] Chr18:33738825..33738826 [GRCh38]
Chr18:31318789..31318790 [GRCh37]
Chr18:18q12.1		 pathogenic
GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3 copy number gain See cases [RCV000050773] Chr18:31655749..42564094 [GRCh38]
Chr18:29235712..40144059 [GRCh37]
Chr18:27489710..38398057 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1 copy number loss See cases [RCV000051090] Chr18:29444510..40403652 [GRCh38]
Chr18:27024475..37983616 [GRCh37]
Chr18:25278473..36237614 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1 copy number loss See cases [RCV000053829] Chr18:32111530..44070219 [GRCh38]
Chr18:29691493..41650184 [GRCh37]
Chr18:27945491..39904182 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
NM_030632.1(ASXL3):c.661C>T (p.Pro221Ser) single nucleotide variant Malignant melanoma [RCV000071812] Chr18:33671812 [GRCh38]
Chr18:31251776 [GRCh37]
Chr18:29505774 [NCBI36]
Chr18:18q12.1		 not provided
NM_030632.1(ASXL3):c.1883C>T (p.Pro628Leu) single nucleotide variant Malignant melanoma [RCV000071813] Chr18:33739287 [GRCh38]
Chr18:31319251 [GRCh37]
Chr18:29573249 [NCBI36]
Chr18:18q12.1		 not provided
NM_030632.1(ASXL3):c.2743C>T (p.Pro915Ser) single nucleotide variant Malignant melanoma [RCV000071814] Chr18:33740147 [GRCh38]
Chr18:31320111 [GRCh37]
Chr18:29574109 [NCBI36]
Chr18:18q12.1		 not provided
NM_030632.1(ASXL3):c.3031C>T (p.Pro1011Ser) single nucleotide variant Malignant melanoma [RCV000071815] Chr18:33740435 [GRCh38]
Chr18:31320399 [GRCh37]
Chr18:29574397 [NCBI36]
Chr18:18q12.1		 not provided
NM_030632.1(ASXL3):c.4199C>T (p.Ser1400Phe) single nucleotide variant Malignant melanoma [RCV000071816] Chr18:33744047 [GRCh38]
Chr18:31324011 [GRCh37]
Chr18:29578009 [NCBI36]
Chr18:18q12.1		 not provided
NM_030632.3(ASXL3):c.4072_4085del (p.Val1358fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000660464] Chr18:33743920..33743933 [GRCh38]
Chr18:31323884..31323897 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.1(ASXL3):c.138-1863C>A single nucleotide variant Lung cancer [RCV000100773] Chr18:33643031 [GRCh38]
Chr18:31222995 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4678C>T (p.Arg1560Ter) single nucleotide variant not provided [RCV002287946] Chr18:33744526 [GRCh38]
Chr18:31324490 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3423_3429del (p.Asn1141fs) deletion Intellectual disability [RCV001255324]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001253204] Chr18:33743269..33743275 [GRCh38]
Chr18:31323233..31323239 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_030632.3(ASXL3):c.5991A>G (p.Lys1997=) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260192]|not provided [RCV001545421]|not specified [RCV001821875] Chr18:33745839 [GRCh38]
Chr18:31325803 [GRCh37]
Chr18:18q12.1		 benign|likely benign
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1 copy number loss See cases [RCV000138295] Chr18:33373798..37364748 [GRCh38]
Chr18:30953762..34944711 [GRCh37]
Chr18:29207760..33198709 [NCBI36]
Chr18:18q12.1-12.2		 likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1(chr18:32462656-34463256)x1 copy number loss See cases [RCV000141483] Chr18:32462656..34463256 [GRCh38]
Chr18:30042619..32043220 [GRCh37]
Chr18:28296617..30297218 [NCBI36]
Chr18:18q12.1		 benign
GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3 copy number gain See cases [RCV000141646] Chr18:20949378..34363455 [GRCh38]
Chr18:18529339..31943419 [GRCh37]
Chr18:16783337..30197417 [NCBI36]
Chr18:18q11.1-12.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg) single nucleotide variant ASXL3-related disorder [RCV003917833]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000990087]|not provided [RCV000949021]|not specified [RCV000203181] Chr18:33746048 [GRCh38]
Chr18:31326012 [GRCh37]
Chr18:18q12.1		 likely pathogenic|benign|likely benign
GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3 copy number gain See cases [RCV000142226] Chr18:20941324..40360620 [GRCh38]
Chr18:18521285..37940584 [GRCh37]
Chr18:16775283..36194582 [NCBI36]
Chr18:18q11.1-12.3		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
NM_030632.3(ASXL3):c.5999A>T (p.Asp2000Val) single nucleotide variant not specified [RCV000202948] Chr18:33745847 [GRCh38]
Chr18:31325811 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1777G>T (p.Glu593Ter) single nucleotide variant not provided [RCV000254895] Chr18:33739181 [GRCh38]
Chr18:31319145 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.2342C>T (p.Pro781Leu) single nucleotide variant ASXL3-related disorder [RCV003947596]|not provided [RCV001552331]|not specified [RCV000192905] Chr18:33739746 [GRCh38]
Chr18:31319710 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.1654C>T (p.His552Tyr) single nucleotide variant ASXL3-related disorder [RCV003947595]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002259733]|not provided [RCV001651054]|not specified [RCV000192935] Chr18:33739058 [GRCh38]
Chr18:31319022 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.2457T>C (p.Ala819=) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002259734]|not provided [RCV001311144]|not specified [RCV000193934] Chr18:33739861 [GRCh38]
Chr18:31319825 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_030632.3(ASXL3):c.1707C>T (p.Thr569=) single nucleotide variant ASXL3-related disorder [RCV003955141]|not provided [RCV001770142]|not specified [RCV000193958] Chr18:33739111 [GRCh38]
Chr18:31319075 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_030632.3(ASXL3):c.1925C>T (p.Pro642Leu) single nucleotide variant ASXL3-related disorder [RCV003927765]|not provided [RCV001675665]|not specified [RCV000194856] Chr18:33739329 [GRCh38]
Chr18:31319293 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_030632.3(ASXL3):c.1454A>G (p.Asn485Ser) single nucleotide variant not provided [RCV001682908]|not specified [RCV000194884] Chr18:33738858 [GRCh38]
Chr18:31318822 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_030632.3(ASXL3):c.1192_1195del (p.Thr398fs) microsatellite Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000193468]|not provided [RCV000486570] Chr18:33738592..33738595 [GRCh38]
Chr18:31318556..31318559 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.6312C>A (p.Asp2104Glu) single nucleotide variant not specified [RCV000194926] Chr18:33746160 [GRCh38]
Chr18:31326124 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000263069]|not provided [RCV000271358] Chr18:33743197 [GRCh38]
Chr18:31323161 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_030632.3(ASXL3):c.4211_4212del (p.Thr1404fs) microsatellite Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265365]|not provided [RCV000521725] Chr18:33744057..33744058 [GRCh38]
Chr18:31324021..31324022 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1682C>A (p.Ser561Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000209910] Chr18:33739086 [GRCh38]
Chr18:31319050 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.6640T>C (p.Ser2214Pro) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000224982] Chr18:33746488 [GRCh38]
Chr18:31326452 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_030632.3(ASXL3):c.4022_4023del (p.Val1341fs) microsatellite Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265229]|not provided [RCV000305841] Chr18:33743868..33743869 [GRCh38]
Chr18:31323832..31323833 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.1346del (p.Val449fs) deletion not provided [RCV000331405] Chr18:33738750 [GRCh38]
Chr18:31318714 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.5486del (p.Lys1829fs) deletion not provided [RCV000359906] Chr18:33745330 [GRCh38]
Chr18:31325294 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1939dup (p.Thr647fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265444]|not provided [RCV000364000] Chr18:33739342..33739343 [GRCh38]
Chr18:31319306..31319307 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1484del (p.Pro495fs) deletion not provided [RCV000389131] Chr18:33738887 [GRCh38]
Chr18:31318851 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.873T>A (p.Asp291Glu) single nucleotide variant not provided [RCV000364477] Chr18:33683562 [GRCh38]
Chr18:31263526 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1627_1628del (p.Leu543fs) microsatellite Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265446]|not provided [RCV000489639] Chr18:33739027..33739028 [GRCh38]
Chr18:31318991..31318992 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.1963_1968del (p.Ser655_Thr656del) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004813374] Chr18:33739365..33739370 [GRCh38]
Chr18:31319329..31319334 [GRCh37]		 uncertain significance
NM_030632.3(ASXL3):c.2183C>A (p.Thr728Asn) single nucleotide variant Inborn genetic diseases [RCV004039427]|not provided [RCV001574279] Chr18:33739587 [GRCh38]
Chr18:31319551 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.567G>A (p.Val189=) single nucleotide variant not provided [RCV003315079] Chr18:33670762 [GRCh38]
Chr18:31250726 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5414del (p.Pro1805fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003315172] Chr18:33745261 [GRCh38]
Chr18:31325225 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.3403_3405delinsCC (p.Ser1135fs) indel Neurodevelopmental disorder [RCV001374960] Chr18:33743251..33743253 [GRCh38]
Chr18:31323215..31323217 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4586C>T (p.Ala1529Val) single nucleotide variant not provided [RCV003314804] Chr18:33744434 [GRCh38]
Chr18:31324398 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter) single nucleotide variant Global developmental delay [RCV001003997]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000509186]|not provided [RCV000489967] Chr18:33743312 [GRCh38]
Chr18:31323276 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|not provided
NM_030632.3(ASXL3):c.3039+1G>A single nucleotide variant ASXL3-related disorder [RCV003953102]|Inborn genetic diseases [RCV003243217]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000625988] Chr18:33740444 [GRCh38]
Chr18:31320408 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265450]|not provided [RCV000598785] Chr18:33744353..33744354 [GRCh38]
Chr18:31324317..31324318 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1738G>T (p.Glu580Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265366]|not provided [RCV000599168] Chr18:33739142 [GRCh38]
Chr18:31319106 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.2884_2886del (p.Ser962del) deletion not provided [RCV000599318] Chr18:33740287..33740289 [GRCh38]
Chr18:31320251..31320253 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1206_1212delinsTCACAT (p.Glu402fs) indel not provided [RCV000599495] Chr18:33738610..33738616 [GRCh38]
Chr18:31318574..31318580 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3774_3775insAACA (p.Asp1259fs) insertion not provided [RCV000523689] Chr18:33743622..33743623 [GRCh38]
Chr18:31323586..31323587 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1986C>A (p.Tyr662Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004776436]|intellectual deficiency [RCV000415197] Chr18:33739390 [GRCh38]
Chr18:31319354 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.1298T>C (p.Ile433Thr) single nucleotide variant not provided [RCV000734765] Chr18:33738702 [GRCh38]
Chr18:31318666 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1351C>T (p.Gln451Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000735242] Chr18:33738755 [GRCh38]
Chr18:31318719 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.716-49G>A single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001553865]|not provided [RCV001673196] Chr18:33683356 [GRCh38]
Chr18:31263320 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3136G>A (p.Gly1046Arg) single nucleotide variant Abnormal brain morphology [RCV000454178]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003139595] Chr18:33742984 [GRCh38]
Chr18:31322948 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_030632.3(ASXL3):c.2152C>T (p.Pro718Ser) single nucleotide variant not provided [RCV000417810] Chr18:33739556 [GRCh38]
Chr18:31319520 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2965C>G (p.Arg989Gly) single nucleotide variant ASXL3-related disorder [RCV003925285]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002259949]|not provided [RCV001698292]|not specified [RCV000435230] Chr18:33740369 [GRCh38]
Chr18:31320333 [GRCh37]
Chr18:18q12.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030632.3(ASXL3):c.5002G>A (p.Val1668Met) single nucleotide variant ASXL3-related disorder [RCV003912608]|Inborn genetic diseases [RCV003278797]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002259924]|not provided [RCV000417431] Chr18:33744850 [GRCh38]
Chr18:31324814 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.3350G>A (p.Arg1117Gln) single nucleotide variant not provided [RCV000418440] Chr18:33743198 [GRCh38]
Chr18:31323162 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3043C>T (p.Gln1015Ter) single nucleotide variant not provided [RCV000430452] Chr18:33742891 [GRCh38]
Chr18:31322855 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.1961dup (p.Ser654_Ser655insTer) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000416511] Chr18:33739364..33739365 [GRCh38]
Chr18:31319328..31319329 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000477964]|not provided [RCV000726055] Chr18:33738875 [GRCh38]
Chr18:31318839 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_030632.3(ASXL3):c.3325_3326del (p.Lys1109fs) deletion not provided [RCV000483981] Chr18:33743173..33743174 [GRCh38]
Chr18:31323137..31323138 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3364C>T (p.Gln1122Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000624921]|not provided [RCV000484332] Chr18:33743212 [GRCh38]
Chr18:31323176 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1409A>C (p.His470Pro) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002259979]|not provided [RCV000515110] Chr18:33738813 [GRCh38]
Chr18:31318777 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.4360C>T (p.Gln1454Ter) single nucleotide variant not provided [RCV000486621] Chr18:33744208 [GRCh38]
Chr18:31324172 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1214C>T (p.Pro405Leu) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001249847]|not provided [RCV003326444]|not specified [RCV000500895] Chr18:33738618 [GRCh38]
Chr18:31318582 [GRCh37]
Chr18:18q12.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030632.3(ASXL3):c.5696G>C (p.Arg1899Pro) single nucleotide variant not specified [RCV000501828] Chr18:33745544 [GRCh38]
Chr18:31325508 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.1422T>A (p.Pro474=) single nucleotide variant not specified [RCV000504149] Chr18:33738826 [GRCh38]
Chr18:31318790 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6165del (p.Lys2055fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265441]|not provided [RCV000523154] Chr18:33746009 [GRCh38]
Chr18:31325973 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.6365T>G (p.Phe2122Cys) single nucleotide variant not specified [RCV000499523] Chr18:33746213 [GRCh38]
Chr18:31326177 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.337C>T (p.His113Tyr) single nucleotide variant not specified [RCV000504257] Chr18:33646335 [GRCh38]
Chr18:31226299 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1 copy number loss See cases [RCV000510691] Chr18:20069932..36887326 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NM_030632.3(ASXL3):c.2074G>C (p.Ala692Pro) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000509272] Chr18:33739478 [GRCh38]
Chr18:31319442 [GRCh37]
Chr18:18q12.1		 not provided
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) deletion Inborn genetic diseases [RCV000624407]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000059323]|not provided [RCV000509280] Chr18:33739379..33739382 [GRCh38]
Chr18:31319343..31319346 [GRCh37]
Chr18:18q12.1		 pathogenic|not provided
NM_030632.3(ASXL3):c.1032_1035dup (p.Thr346fs) duplication not provided [RCV000497559] Chr18:33734361..33734362 [GRCh38]
Chr18:31314325..31314326 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3464C>T (p.Ser1155Leu) single nucleotide variant Inborn genetic diseases [RCV004669011]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002481608]|not specified [RCV000499894] Chr18:33743312 [GRCh38]
Chr18:31323276 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.5774C>T (p.Thr1925Ile) single nucleotide variant not specified [RCV000502959] Chr18:33745622 [GRCh38]
Chr18:31325586 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2022A>G (p.Ala674=) single nucleotide variant not specified [RCV000500745] Chr18:33739426 [GRCh38]
Chr18:31319390 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5173G>A (p.Asp1725Asn) single nucleotide variant ASXL3-related disorder [RCV003960151]|Inborn genetic diseases [RCV004669010]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002259977]|not provided [RCV001584211]|not specified [RCV000503177] Chr18:33745021 [GRCh38]
Chr18:31324985 [GRCh37]
Chr18:18q12.1		 benign|likely benign
GRCh37/hg19 18q12.1-12.2(chr18:30368042-36078516)x1 copy number loss See cases [RCV000511858] Chr18:30368042..36078516 [GRCh37]
Chr18:18q12.1-12.2		 likely pathogenic
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000509007]|not provided [RCV000493532] Chr18:33742954 [GRCh38]
Chr18:31322918 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_030632.3(ASXL3):c.1808C>G (p.Ser603Ter) single nucleotide variant See cases [RCV003156103]|not provided [RCV000523529] Chr18:33739212 [GRCh38]
Chr18:31319176 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.227C>T (p.Ser76Leu) single nucleotide variant Inborn genetic diseases [RCV003295222] Chr18:33644983 [GRCh38]
Chr18:31224947 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6612C>A (p.Ser2204Arg) single nucleotide variant Inborn genetic diseases [RCV003275365] Chr18:33746460 [GRCh38]
Chr18:31326424 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1429dup (p.Ser477fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003307368] Chr18:33738829..33738830 [GRCh38]
Chr18:31318793..31318794 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3389C>G (p.Pro1130Arg) single nucleotide variant ASXL3-related disorder [RCV003925524]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002259978]|not provided [RCV000514675] Chr18:33743237 [GRCh38]
Chr18:31323201 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.3704C>A (p.Ser1235Tyr) single nucleotide variant Inborn genetic diseases [RCV003261504] Chr18:33743552 [GRCh38]
Chr18:31323516 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5009C>G (p.Ser1670Cys) single nucleotide variant Inborn genetic diseases [RCV003260010]|not provided [RCV003883972] Chr18:33744857 [GRCh38]
Chr18:31324821 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3039+2T>A single nucleotide variant Inborn genetic diseases [RCV000624347] Chr18:33740445 [GRCh38]
Chr18:31320409 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) single nucleotide variant Inborn genetic diseases [RCV000624295]|Intellectual disability [RCV001249488]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000624922]|not provided [RCV001568093] Chr18:33744178 [GRCh38]
Chr18:31324142 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_030632.3(ASXL3):c.1448dup (p.Thr484fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000624923] Chr18:33738851..33738852 [GRCh38]
Chr18:31318815..31318816 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4144C>T (p.Gln1382Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000624924]|not provided [RCV001269691] Chr18:33743992 [GRCh38]
Chr18:31323956 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.1418T>G (p.Ile473Arg) single nucleotide variant Inborn genetic diseases [RCV003270257] Chr18:33738822 [GRCh38]
Chr18:31318786 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1534_1535del (p.Leu512fs) deletion not provided [RCV000656273] Chr18:33738937..33738938 [GRCh38]
Chr18:31318901..31318902 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1354del (p.Glu452fs) deletion Inborn genetic diseases [RCV000623086]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265364] Chr18:33738757 [GRCh38]
Chr18:31318721 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.2154G>A (p.Pro718=) single nucleotide variant not provided [RCV000513397] Chr18:33739558 [GRCh38]
Chr18:31319522 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1582G>T (p.Glu528Ter) single nucleotide variant not provided [RCV000627197] Chr18:33738986 [GRCh38]
Chr18:31318950 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs) microsatellite ASXL3-related disorder [RCV004748866]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265438]|not provided [RCV000627525] Chr18:33744063..33744064 [GRCh38]
Chr18:31324027..31324028 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.4255_4258dup (p.Met1420fs) duplication not provided [RCV000658805] Chr18:33744101..33744102 [GRCh38]
Chr18:31324065..31324066 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
GRCh37/hg19 18q12.1-12.2(chr18:29711972-35866193)x1 copy number loss not provided [RCV000684043] Chr18:29711972..35866193 [GRCh37]
Chr18:18q12.1-12.2		 pathogenic
NM_030632.3(ASXL3):c.1733C>T (p.Ser578Phe) single nucleotide variant ASXL3-related disorder [RCV003908473]|Intellectual disability [RCV001252412]|not provided [RCV001567527] Chr18:33739137 [GRCh38]
Chr18:31319101 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1500del (p.Glu500fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000678294]|not provided [RCV002225716] Chr18:33738903 [GRCh38]
Chr18:31318867 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.4376del (p.Gly1459fs) deletion Global developmental delay [RCV001003998]|not provided [RCV004721698] Chr18:33744220 [GRCh38]
Chr18:31324184 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.4335C>T (p.Asn1445=) single nucleotide variant not provided [RCV001531443] Chr18:33744183 [GRCh38]
Chr18:31324147 [GRCh37]
Chr18:18q12.1		 likely benign
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
NM_030632.3(ASXL3):c.6604G>A (p.Asp2202Asn) single nucleotide variant not provided [RCV001689423] Chr18:33746452 [GRCh38]
Chr18:31326416 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.5713A>G (p.Ser1905Gly) single nucleotide variant Inborn genetic diseases [RCV004039478]|not provided [RCV001585080] Chr18:33745561 [GRCh38]
Chr18:31325525 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.879+71A>G single nucleotide variant not provided [RCV001725373] Chr18:33683639 [GRCh38]
Chr18:31263603 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.335C>A (p.Ala112Asp) single nucleotide variant not provided [RCV001547229] Chr18:33646333 [GRCh38]
Chr18:31226297 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6603C>T (p.Ala2201=) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002501913]|not provided [RCV001567078] Chr18:33746451 [GRCh38]
Chr18:31326415 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.879+269A>G single nucleotide variant not provided [RCV001645600] Chr18:33683837 [GRCh38]
Chr18:31263801 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.1535T>A (p.Leu512Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265434]|not provided [RCV000760829] Chr18:33738939 [GRCh38]
Chr18:31318903 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4014C>G (p.Tyr1338Ter) single nucleotide variant not provided [RCV000760952] Chr18:33743862 [GRCh38]
Chr18:31323826 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1783C>T (p.Gln595Ter) single nucleotide variant not provided [RCV000760545] Chr18:33739187 [GRCh38]
Chr18:31319151 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1585G>T (p.Glu529Ter) single nucleotide variant not provided [RCV000760579] Chr18:33738989 [GRCh38]
Chr18:31318953 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.6211C>T (p.Gln2071Ter) single nucleotide variant not provided [RCV000760703] Chr18:33746059 [GRCh38]
Chr18:31326023 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.675A>G (p.Gln225=) single nucleotide variant not provided [RCV003315031] Chr18:33671826 [GRCh38]
Chr18:31251790 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.54+222_54+231dup duplication not provided [RCV001569933] Chr18:33578904..33578905 [GRCh38]
Chr18:31158868..31158869 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5709G>C (p.Ser1903=) single nucleotide variant not provided [RCV001551458] Chr18:33745557 [GRCh38]
Chr18:31325521 [GRCh37]
Chr18:18q12.1		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_030632.3(ASXL3):c.3889C>T (p.Pro1297Ser) single nucleotide variant not provided [RCV001570332] Chr18:33743737 [GRCh38]
Chr18:31323701 [GRCh37]
Chr18:18q12.1		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_030632.3(ASXL3):c.4206G>A (p.Ala1402=) single nucleotide variant not provided [RCV001547776] Chr18:33744054 [GRCh38]
Chr18:31324018 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1082+10A>T single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260370]|not provided [RCV001708699] Chr18:33734425 [GRCh38]
Chr18:31314389 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3853A>C (p.Ile1285Leu) single nucleotide variant not provided [RCV001665771] Chr18:33743701 [GRCh38]
Chr18:31323665 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.4338G>T (p.Arg1446Ser) single nucleotide variant not provided [RCV001090346] Chr18:33744186 [GRCh38]
Chr18:31324150 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1116C>T (p.Leu372=) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260120]|not provided [RCV000958749] Chr18:33738520 [GRCh38]
Chr18:31318484 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.4232C>T (p.Pro1411Leu) single nucleotide variant not provided [RCV002280497] Chr18:33744080 [GRCh38]
Chr18:31324044 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.875G>A (p.Arg292Lys) single nucleotide variant not provided [RCV001064445] Chr18:33683564 [GRCh38]
Chr18:31263528 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) microsatellite Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000785921] Chr18:33739250..33739251 [GRCh38]
Chr18:31319214..31319215 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.3547C>G (p.Gln1183Glu) single nucleotide variant not specified [RCV000825287] Chr18:33743395 [GRCh38]
Chr18:31323359 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4605_4606dup (p.Ser1536fs) microsatellite not provided [RCV000782059] Chr18:33744450..33744451 [GRCh38]
Chr18:31324414..31324415 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6072T>C (p.Pro2024=) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260117]|not provided [RCV000948461] Chr18:33745920 [GRCh38]
Chr18:31325884 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.2511C>T (p.Thr837=) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260121]|not provided [RCV000961546] Chr18:33739915 [GRCh38]
Chr18:31319879 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.4594G>A (p.Gly1532Ser) single nucleotide variant not provided [RCV002284652] Chr18:33744442 [GRCh38]
Chr18:31324406 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3829T>C (p.Cys1277Arg) single nucleotide variant Inborn genetic diseases [RCV003267921] Chr18:33743677 [GRCh38]
Chr18:31323641 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000985126] Chr18:33739875 [GRCh38]
Chr18:31319839 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_030632.3(ASXL3):c.4066A>G (p.Ser1356Gly) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000785160] Chr18:33743914 [GRCh38]
Chr18:31323878 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:30863773-31433693)x1 copy number loss not provided [RCV000847866] Chr18:30863773..31433693 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.941A>G (p.Tyr314Cys) single nucleotide variant not provided [RCV001090345] Chr18:33732029 [GRCh38]
Chr18:31311993 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3330_3333dup (p.Ala1112fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000990086] Chr18:33743176..33743177 [GRCh38]
Chr18:31323140..31323141 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1082+1781_3039+950del deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000791293] Chr18:33736194..33741391 [GRCh38]
Chr18:31316158..31321355 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.656A>C (p.Lys219Thr) single nucleotide variant not provided [RCV003239097] Chr18:33671807 [GRCh38]
Chr18:31251771 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3613G>T (p.Glu1205Ter) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850445] Chr18:33743461 [GRCh38]
Chr18:31323425 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.4087_4088delinsG (p.Met1363fs) indel Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265440]|not provided [RCV001008582] Chr18:33743935..33743936 [GRCh38]
Chr18:31323899..31323900 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001264798]|not provided [RCV001008841] Chr18:33744307..33744310 [GRCh38]
Chr18:31324271..31324274 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
NM_030632.3(ASXL3):c.477+162_477+163insC insertion not provided [RCV001571332] Chr18:33661899..33661900 [GRCh38]
Chr18:31241863..31241864 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4336_4337del (p.Arg1446fs) deletion Intellectual disability [RCV001249487]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001253403]|not provided [RCV001009187] Chr18:33744184..33744185 [GRCh38]
Chr18:31324148..31324149 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_030632.3(ASXL3):c.1884_1885del (p.Gly629fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000990085] Chr18:33739288..33739289 [GRCh38]
Chr18:31319252..31319253 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4153_4154del (p.Val1385fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003223416]|not provided [RCV001008081] Chr18:33744000..33744001 [GRCh38]
Chr18:31323964..31323965 [GRCh37]
Chr18:18q12.1		 pathogenic
GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1 copy number loss not provided [RCV001006964] Chr18:22868759..34335753 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NM_030632.3(ASXL3):c.1579del (p.Gln527fs) deletion not provided [RCV001009174] Chr18:33738980 [GRCh38]
Chr18:31318944 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1698_1699del (p.Glu566fs) microsatellite not provided [RCV001008223] Chr18:33739099..33739100 [GRCh38]
Chr18:31319063..31319064 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.2625dup (p.Val876fs) duplication not provided [RCV001008531] Chr18:33740021..33740022 [GRCh38]
Chr18:31319985..31319986 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4744C>T (p.Gln1582Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001249402] Chr18:33744592 [GRCh38]
Chr18:31324556 [GRCh37]
Chr18:18q12.1		 not provided
NM_030632.3(ASXL3):c.4931C>T (p.Thr1644Ile) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004785047] Chr18:33744779 [GRCh38]
Chr18:31324743 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5074C>T (p.Pro1692Ser) single nucleotide variant Inborn genetic diseases [RCV003250276] Chr18:33744922 [GRCh38]
Chr18:31324886 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4658C>T (p.Pro1553Leu) single nucleotide variant Inborn genetic diseases [RCV003248827] Chr18:33744506 [GRCh38]
Chr18:31324470 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3014_3015dup (p.Glu1006fs) microsatellite Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000995700] Chr18:33740413..33740414 [GRCh38]
Chr18:31320377..31320378 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.3494_3495del (p.Asn1164_Cys1165insTer) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000995701] Chr18:33743341..33743342 [GRCh38]
Chr18:31323305..31323306 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3827_3830dup (p.Asn1278fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV000995702] Chr18:33743672..33743673 [GRCh38]
Chr18:31323636..31323637 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3970C>A (p.Leu1324Ile) single nucleotide variant Inborn genetic diseases [RCV002549946]|not provided [RCV000996676] Chr18:33743818 [GRCh38]
Chr18:31323782 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030632.3(ASXL3):c.4899_4902del (p.Glu1632_Tyr1633insTer) deletion not provided [RCV001008044] Chr18:33744745..33744748 [GRCh38]
Chr18:31324709..31324712 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1083-115T>C single nucleotide variant not provided [RCV001641454] Chr18:33738372 [GRCh38]
Chr18:31318336 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.6110del (p.Pro2037fs) deletion not provided [RCV001009080] Chr18:33745951 [GRCh38]
Chr18:31325915 [GRCh37]
Chr18:18q12.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_030632.3(ASXL3):c.3039+2T>G single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001197846] Chr18:33740445 [GRCh38]
Chr18:31320409 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3737C>A (p.Ser1246Ter) single nucleotide variant Autism spectrum disorder [RCV003127456] Chr18:33743585 [GRCh38]
Chr18:31323549 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4409del (p.Pro1470fs) deletion Autism spectrum disorder [RCV003127457]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003491320] Chr18:33744256 [GRCh38]
Chr18:31324220 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.6395A>C (p.Lys2132Thr) single nucleotide variant Autism spectrum disorder [RCV003127460]|not provided [RCV003410265] Chr18:33746243 [GRCh38]
Chr18:31326207 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5221T>G (p.Ser1741Ala) single nucleotide variant Autism spectrum disorder [RCV003127458] Chr18:33745069 [GRCh38]
Chr18:31325033 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6496A>G (p.Arg2166Gly) single nucleotide variant not provided [RCV003126970] Chr18:33746344 [GRCh38]
Chr18:31326308 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4559C>T (p.Ser1520Phe) single nucleotide variant not provided [RCV003231900] Chr18:33744407 [GRCh38]
Chr18:31324371 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2951A>G (p.Asp984Gly) single nucleotide variant Inborn genetic diseases [RCV003294662]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003233278] Chr18:33740355 [GRCh38]
Chr18:31320319 [GRCh37]
Chr18:18q12.1		 likely benign|not provided
NM_030632.3(ASXL3):c.1628_1629del (p.Leu543fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003127459] Chr18:33739032..33739033 [GRCh38]
Chr18:31318996..31318997 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1083-250C>T single nucleotide variant not provided [RCV001575948] Chr18:33738237 [GRCh38]
Chr18:31318201 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.-171_-159del deletion not provided [RCV001564364] Chr18:33578461..33578473 [GRCh38]
Chr18:31158425..31158437 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4126A>G (p.Ile1376Val) single nucleotide variant not provided [RCV001581264] Chr18:33743974 [GRCh38]
Chr18:31323938 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.716-38C>T single nucleotide variant not provided [RCV001665258] Chr18:33683367 [GRCh38]
Chr18:31263331 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.976+78T>C single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001553866]|not provided [RCV001713130] Chr18:33732142 [GRCh38]
Chr18:31312106 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.977-116T>C single nucleotide variant not provided [RCV001552088] Chr18:33734194 [GRCh38]
Chr18:31314158 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5088A>G (p.Ala1696=) single nucleotide variant not provided [RCV001567658] Chr18:33744936 [GRCh38]
Chr18:31324900 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2224T>G (p.Phe742Val) single nucleotide variant not provided [RCV001657198] Chr18:33739628 [GRCh38]
Chr18:31319592 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.247-150G>A single nucleotide variant not provided [RCV001554901] Chr18:33646095 [GRCh38]
Chr18:31226059 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5985C>T (p.Pro1995=) single nucleotide variant ASXL3-related disorder [RCV003921286]|not provided [RCV001638665] Chr18:33745833 [GRCh38]
Chr18:31325797 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.3555T>C (p.Ser1185=) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260200]|not provided [RCV001555364]|not specified [RCV001821878] Chr18:33743403 [GRCh38]
Chr18:31323367 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.4749A>G (p.Ala1583=) single nucleotide variant not provided [RCV001713503] Chr18:33744597 [GRCh38]
Chr18:31324561 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.2731G>A (p.Val911Met) single nucleotide variant ASXL3-related disorder [RCV003968448]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260288]|not provided [RCV001671590]|not specified [RCV001821947] Chr18:33740135 [GRCh38]
Chr18:31320099 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.880-16C>T single nucleotide variant not provided [RCV001597822] Chr18:33731952 [GRCh38]
Chr18:31311916 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.2375C>T (p.Pro792Leu) single nucleotide variant Inborn genetic diseases [RCV002539587]|not provided [RCV001655527] Chr18:33739779 [GRCh38]
Chr18:31319743 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.595+174C>T single nucleotide variant not provided [RCV001534709] Chr18:33670964 [GRCh38]
Chr18:31250928 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3124T>C (p.Ser1042Pro) single nucleotide variant ASXL3-related disorder [RCV003948663]|not provided [RCV001666746] Chr18:33742972 [GRCh38]
Chr18:31322936 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.356-83C>G single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001553864]|not provided [RCV001615304] Chr18:33661533 [GRCh38]
Chr18:31241497 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.477+151A>G single nucleotide variant not provided [RCV001561765] Chr18:33661888 [GRCh38]
Chr18:31241852 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4470C>T (p.Ser1490=) single nucleotide variant ASXL3-related disorder [RCV003941047]|not provided [RCV001609309] Chr18:33744318 [GRCh38]
Chr18:31324282 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.5001T>G (p.Pro1667=) single nucleotide variant ASXL3-related disorder [RCV003910942]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260258]|not provided [RCV001656151]|not specified [RCV001821940] Chr18:33744849 [GRCh38]
Chr18:31324813 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.2801T>G (p.Leu934Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001723518] Chr18:33740205 [GRCh38]
Chr18:31320169 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1995A>G (p.Arg665=) single nucleotide variant ASXL3-related disorder [RCV003931252]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002495972]|not provided [RCV001639443] Chr18:33739399 [GRCh38]
Chr18:31319363 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.2065A>C (p.Ile689Leu) single nucleotide variant not provided [RCV001680096] Chr18:33739469 [GRCh38]
Chr18:31319433 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3001C>T (p.Gln1001Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002072044]|not provided [RCV001551109] Chr18:33740405 [GRCh38]
Chr18:31320369 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.2349A>T (p.Lys783Asn) single nucleotide variant Inborn genetic diseases [RCV002568329]|not provided [RCV001551191] Chr18:33739753 [GRCh38]
Chr18:31319717 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1603G>A (p.Asp535Asn) single nucleotide variant not provided [RCV001569997] Chr18:33739007 [GRCh38]
Chr18:31318971 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4097A>T (p.Asn1366Ile) single nucleotide variant not provided [RCV001557251] Chr18:33743945 [GRCh38]
Chr18:31323909 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.1056A>G (p.Lys352=) single nucleotide variant not provided [RCV001611605] Chr18:33734389 [GRCh38]
Chr18:31314353 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.477+169A>G single nucleotide variant not provided [RCV001562894] Chr18:33661906 [GRCh38]
Chr18:31241870 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.351T>C (p.Asn117=) single nucleotide variant not provided [RCV001613771] Chr18:33646349 [GRCh38]
Chr18:31226313 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.5851T>C (p.Ser1951Pro) single nucleotide variant not provided [RCV001564312] Chr18:33745699 [GRCh38]
Chr18:31325663 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1083-269T>C single nucleotide variant not provided [RCV001670372] Chr18:33738218 [GRCh38]
Chr18:31318182 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.715+299G>A single nucleotide variant not provided [RCV001617289] Chr18:33672165 [GRCh38]
Chr18:31252129 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3040-312T>C single nucleotide variant not provided [RCV001653363] Chr18:33742576 [GRCh38]
Chr18:31322540 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.4817G>A (p.Arg1606Gln) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002501893]|not provided [RCV001552657] Chr18:33744665 [GRCh38]
Chr18:31324629 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.5914T>C (p.Leu1972=) single nucleotide variant not provided [RCV001677154] Chr18:33745762 [GRCh38]
Chr18:31325726 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.137+66G>A single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260322]|not provided [RCV001678860] Chr18:33607742 [GRCh38]
Chr18:31187706 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.138-336del deletion not provided [RCV001559734] Chr18:33644558 [GRCh38]
Chr18:31224522 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.977-265GCTTTAGCATTCTTCTAAAGCATTTA[4] microsatellite not provided [RCV001671029] Chr18:33734044..33734045 [GRCh38]
Chr18:31314008..31314009 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.4011G>A (p.Gln1337=) single nucleotide variant not provided [RCV001587985] Chr18:33743859 [GRCh38]
Chr18:31323823 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4696C>T (p.Pro1566Ser) single nucleotide variant Inborn genetic diseases [RCV003242218] Chr18:33744544 [GRCh38]
Chr18:31324508 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1418T>A (p.Ile473Lys) single nucleotide variant not provided [RCV001760456] Chr18:33738822 [GRCh38]
Chr18:31318786 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1496dup (p.Leu499fs) duplication not provided [RCV001218803] Chr18:33738898..33738899 [GRCh38]
Chr18:31318862..31318863 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3785_3786del (p.Ser1262fs) microsatellite Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001196600] Chr18:33743631..33743632 [GRCh38]
Chr18:31323595..31323596 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.355+257C>T single nucleotide variant not provided [RCV001594590] Chr18:33646610 [GRCh38]
Chr18:31226574 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.977-309G>T single nucleotide variant not provided [RCV001636580] Chr18:33734001 [GRCh38]
Chr18:33734001..33734002 [GRCh38]
Chr18:31313965 [GRCh37]
Chr18:31313965..31313966 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.-171GCC[15] microsatellite not provided [RCV001570073] Chr18:33578458..33578459 [GRCh38]
Chr18:31158422..31158423 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6110dup (p.Pro2038fs) duplication not provided [RCV002464799] Chr18:33745950..33745951 [GRCh38]
Chr18:31325914..31325915 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.477+131A>T single nucleotide variant not provided [RCV001574820] Chr18:33661868 [GRCh38]
Chr18:31241832 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5299C>T (p.Pro1767Ser) single nucleotide variant not provided [RCV002464816] Chr18:33745147 [GRCh38]
Chr18:31325111 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.247-263dup duplication not provided [RCV001548571] Chr18:33645976..33645977 [GRCh38]
Chr18:31225940..31225941 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.977-265GCTTTAGCATTCTTCTAAAGCATTTA[5] microsatellite not provided [RCV001570408] Chr18:33734044..33734045 [GRCh38]
Chr18:31314008..31314009 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5293C>G (p.Pro1765Ala) single nucleotide variant not provided [RCV002469734] Chr18:33745141 [GRCh38]
Chr18:31325105 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1083-75A>G single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260396]|not provided [RCV001719276] Chr18:33738412 [GRCh38]
Chr18:31318376 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.-171GCC[12] microsatellite not provided [RCV001719296] Chr18:33578459..33578461 [GRCh38]
Chr18:31158423..31158425 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.478-27_478-23del deletion not provided [RCV001552747] Chr18:33670642..33670646 [GRCh38]
Chr18:31250606..31250610 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5920G>A (p.Glu1974Lys) single nucleotide variant not provided [RCV004585677] Chr18:33745768 [GRCh38]
Chr18:31325732 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3040-188T>C single nucleotide variant not provided [RCV001586655] Chr18:33742700 [GRCh38]
Chr18:31322664 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4117A>G (p.Lys1373Glu) single nucleotide variant not provided [RCV001552913] Chr18:33743965 [GRCh38]
Chr18:31323929 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3076A>T (p.Lys1026Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003231058] Chr18:33742924 [GRCh38]
Chr18:31322888 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.6222C>A (p.Gly2074=) single nucleotide variant not provided [RCV001596485] Chr18:33746070 [GRCh38]
Chr18:31326034 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6071dup (p.Pro2025fs) duplication not provided [RCV001555439] Chr18:33745914..33745915 [GRCh38]
Chr18:31325878..31325879 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4060T>C (p.Ser1354Pro) single nucleotide variant Inborn genetic diseases [RCV002538555]|not provided [RCV001659080] Chr18:33743908 [GRCh38]
Chr18:31323872 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6696C>T (p.Asp2232=) single nucleotide variant not provided [RCV001555855] Chr18:33746544 [GRCh38]
Chr18:31326508 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3433T>C (p.Ser1145Pro) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002471899] Chr18:33743281 [GRCh38]
Chr18:31323245 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.10_11del (p.Lys4fs) deletion not provided [RCV001008947] Chr18:33578641..33578642 [GRCh38]
Chr18:31158605..31158606 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.956G>A (p.Trp319Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004808519] Chr18:33732044 [GRCh38]
Chr18:31312008 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1095_1096del (p.Glu367fs) deletion not provided [RCV001008342] Chr18:33738499..33738500 [GRCh38]
Chr18:31318463..31318464 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3682C>T (p.Pro1228Ser) single nucleotide variant not provided [RCV001695528] Chr18:33743530 [GRCh38]
Chr18:31323494 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.477+168_477+169dup duplication not provided [RCV001599183] Chr18:33661897..33661898 [GRCh38]
Chr18:31241861..31241862 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.1245G>T (p.Glu415Asp) single nucleotide variant ASXL3-related disorder [RCV003948668]|Inborn genetic diseases [RCV002538603]|not provided [RCV001684807] Chr18:33738649 [GRCh38]
Chr18:31318613 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.-171GCC[10] microsatellite not provided [RCV001593411] Chr18:33578459..33578467 [GRCh38]
Chr18:31158423..31158431 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2294C>G (p.Ala765Gly) single nucleotide variant not provided [RCV001597699] Chr18:33739698 [GRCh38]
Chr18:31319662 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.137+294T>G single nucleotide variant not provided [RCV001593475] Chr18:33607970 [GRCh38]
Chr18:31187934 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2861A>G (p.Asn954Ser) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001553867]|not provided [RCV001615305] Chr18:33740265 [GRCh38]
Chr18:31320229 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.4954G>A (p.Val1652Met) single nucleotide variant not provided [RCV001674903] Chr18:33744802 [GRCh38]
Chr18:31324766 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.977-17T>G single nucleotide variant not provided [RCV001688085] Chr18:33734293 [GRCh38]
Chr18:31314257 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.72C>T (p.Pro24=) single nucleotide variant not provided [RCV001531287] Chr18:33607611 [GRCh38]
Chr18:31187575 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4569C>T (p.Ser1523=) single nucleotide variant not provided [RCV001531444] Chr18:33744417 [GRCh38]
Chr18:31324381 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4243A>G (p.Met1415Val) single nucleotide variant not provided [RCV001621554] Chr18:33744091 [GRCh38]
Chr18:31324055 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.247-209A>G single nucleotide variant not provided [RCV001719290] Chr18:33646036 [GRCh38]
Chr18:31226000 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.195G>A (p.Gly65=) single nucleotide variant ASXL3-related disorder [RCV003910972]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260379]|not provided [RCV001715358]|not specified [RCV001821962] Chr18:33644951 [GRCh38]
Chr18:31224915 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.5506G>C (p.Gly1836Arg) single nucleotide variant not provided [RCV001676274] Chr18:33745354 [GRCh38]
Chr18:31325318 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3391C>T (p.Pro1131Ser) single nucleotide variant ASXL3-related disorder [RCV003941084]|not provided [RCV001698558] Chr18:33743239 [GRCh38]
Chr18:31323203 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.4120_4123dup (p.Ala1375fs) duplication not provided [RCV001596133] Chr18:33743965..33743966 [GRCh38]
Chr18:31323929..31323930 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.514T>C (p.Ser172Pro) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260257]|not provided [RCV001654249]|not specified [RCV001821939] Chr18:33670709 [GRCh38]
Chr18:31250673 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.-363C>A single nucleotide variant not provided [RCV001657033] Chr18:33578269 [GRCh38]
Chr18:31158233 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.2307A>G (p.Arg769=) single nucleotide variant not provided [RCV001657047] Chr18:33739711 [GRCh38]
Chr18:31319675 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.716-40T>G single nucleotide variant not provided [RCV001677225] Chr18:33683365 [GRCh38]
Chr18:31263329 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3162C>T (p.Leu1054=) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260315]|not provided [RCV001684449]|not specified [RCV001821951] Chr18:33743010 [GRCh38]
Chr18:31322974 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.477+169dup duplication not provided [RCV001684477] Chr18:33661897..33661898 [GRCh38]
Chr18:31241861..31241862 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.4924A>G (p.Ile1642Val) single nucleotide variant not provided [RCV001658928] Chr18:33744772 [GRCh38]
Chr18:31324736 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4716G>A (p.Pro1572=) single nucleotide variant not provided [RCV001652608] Chr18:33744564 [GRCh38]
Chr18:31324528 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.1890G>A (p.Gly630=) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260278]|not provided [RCV001665654]|not specified [RCV001821946] Chr18:33739294 [GRCh38]
Chr18:31319258 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.-171GCC[14] microsatellite not provided [RCV001724537] Chr18:33578458..33578459 [GRCh38]
Chr18:31158422..31158423 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.1083-195G>C single nucleotide variant not provided [RCV001679852] Chr18:33738292 [GRCh38]
Chr18:31318256 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.977-310C>T single nucleotide variant not provided [RCV001647928] Chr18:33734000 [GRCh38]
Chr18:31313964 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.595+334G>A single nucleotide variant not provided [RCV001695041] Chr18:33671124 [GRCh38]
Chr18:33671124..33671125 [GRCh38]
Chr18:31251088 [GRCh37]
Chr18:31251088..31251089 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3929A>C (p.Glu1310Ala) single nucleotide variant not provided [RCV001611129]|not specified [RCV003151341] Chr18:33743777 [GRCh38]
Chr18:31323741 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3750_3753del (p.Lys1250fs) deletion not provided [RCV001585351] Chr18:33743596..33743599 [GRCh38]
Chr18:31323560..31323563 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3352dup (p.Ala1118fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001706789] Chr18:33743199..33743200 [GRCh38]
Chr18:31323163..31323164 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.715+157C>T single nucleotide variant not provided [RCV001670453] Chr18:33672023 [GRCh38]
Chr18:31251987 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.55-40T>C single nucleotide variant not provided [RCV001685128] Chr18:33607554 [GRCh38]
Chr18:31187518 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.1354G>A (p.Glu452Lys) single nucleotide variant Global developmental delay [RCV001174529] Chr18:33738758 [GRCh38]
Chr18:31318722 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4590C>T (p.Asn1530=) single nucleotide variant not provided [RCV001679767] Chr18:33744438 [GRCh38]
Chr18:31324402 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.137+270C>A single nucleotide variant not provided [RCV001611411] Chr18:33607946 [GRCh38]
Chr18:33607946..33607947 [GRCh38]
Chr18:31187910 [GRCh37]
Chr18:31187910..31187911 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3039+309A>G single nucleotide variant not provided [RCV001641444] Chr18:33740752 [GRCh38]
Chr18:31320716 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.4036A>G (p.Ile1346Val) single nucleotide variant ASXL3-related disorder [RCV003968460]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260298]|not provided [RCV001670491] Chr18:33743884 [GRCh38]
Chr18:31323848 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.2472G>A (p.Pro824=) single nucleotide variant not provided [RCV001666280] Chr18:33739876 [GRCh38]
Chr18:31319840 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.4545G>A (p.Ala1515=) single nucleotide variant not provided [RCV001670820] Chr18:33744393 [GRCh38]
Chr18:31324357 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.977-265GCTTTAGCATTCTTCTAAAGCATTTA[2] microsatellite not provided [RCV001683954] Chr18:33734045..33734070 [GRCh38]
Chr18:31314009..31314034 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.410C>T (p.Thr137Ile) single nucleotide variant not provided [RCV001572454] Chr18:33661670 [GRCh38]
Chr18:31241634 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4752T>C (p.Arg1584=) single nucleotide variant not provided [RCV001645530] Chr18:33744600 [GRCh38]
Chr18:31324564 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.596-291C>T single nucleotide variant not provided [RCV001567277] Chr18:33671456 [GRCh38]
Chr18:31251420 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4039G>A (p.Gly1347Arg) single nucleotide variant Intellectual disability [RCV001249489] Chr18:33743887 [GRCh38]
Chr18:31323851 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5587_5598del (p.Ser1863_Ser1866del) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001169974] Chr18:33745428..33745439 [GRCh38]
Chr18:31325392..31325403 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.246+64G>T single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001553863]|not provided [RCV001658284] Chr18:33645066 [GRCh38]
Chr18:31225030 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3040-8C>T single nucleotide variant Intellectual disability [RCV001252415] Chr18:33742880 [GRCh38]
Chr18:31322844 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3944C>G (p.Ser1315Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001253662] Chr18:33743792 [GRCh38]
Chr18:31323756 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6359C>T (p.Ala2120Val) single nucleotide variant ASXL3-related disorder [RCV003938587]|Intellectual disability [RCV001252413]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002499444]|not provided [RCV001615143] Chr18:33746207 [GRCh38]
Chr18:31326171 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.6346G>A (p.Ala2116Thr) single nucleotide variant ASXL3-related disorder [RCV003928800]|Intellectual disability [RCV001252414]|not provided [RCV001615144] Chr18:33746194 [GRCh38]
Chr18:31326158 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.1582del (p.Glu528fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001252417] Chr18:33738985 [GRCh38]
Chr18:31318949 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.5257_5267del (p.Leu1753fs) deletion Intellectual disability [RCV001252416] Chr18:33745104..33745114 [GRCh38]
Chr18:31325068..31325078 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3592_3593insGAT (p.Leu1198Ter) insertion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001251116] Chr18:33743439..33743440 [GRCh38]
Chr18:31323403..31323404 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.6281G>A (p.Cys2094Tyr) single nucleotide variant Inborn genetic diseases [RCV004035382]|Intellectual disability [RCV001260630] Chr18:33746129 [GRCh38]
Chr18:31326093 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1316C>G (p.Ser439Ter) single nucleotide variant Inborn genetic diseases [RCV001267088] Chr18:33738720 [GRCh38]
Chr18:31318684 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4164dup (p.Thr1389fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265363] Chr18:33744011..33744012 [GRCh38]
Chr18:31323975..31323976 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3321_3325del (p.Lys1109fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265448] Chr18:33743168..33743172 [GRCh38]
Chr18:31323132..31323136 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.3621dup (p.Pro1208fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265451] Chr18:33743468..33743469 [GRCh38]
Chr18:31323432..31323433 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1612G>T (p.Glu538Ter) single nucleotide variant Inborn genetic diseases [RCV001267475] Chr18:33739016 [GRCh38]
Chr18:31318980 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4244T>G (p.Met1415Arg) single nucleotide variant not provided [RCV001641127] Chr18:33744092 [GRCh38]
Chr18:31324056 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3298del (p.Ala1100fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001261159] Chr18:33743145 [GRCh38]
Chr18:31323109 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.2962A>G (p.Thr988Ala) single nucleotide variant Inborn genetic diseases [RCV004683671] Chr18:33740366 [GRCh38]
Chr18:31320330 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1996A>G (p.Asn666Asp) single nucleotide variant Inborn genetic diseases [RCV004683678] Chr18:33739400 [GRCh38]
Chr18:31319364 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1669G>T (p.Glu557Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001260910] Chr18:33739073 [GRCh38]
Chr18:31319037 [GRCh37]
Chr18:18q12.1		 likely pathogenic
GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1 copy number loss See cases [RCV001263022] Chr18:23971647..33737300 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NM_030632.3(ASXL3):c.3119G>A (p.Ser1040Asn) single nucleotide variant Inborn genetic diseases [RCV004683685] Chr18:33742967 [GRCh38]
Chr18:31322931 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4258A>G (p.Met1420Val) single nucleotide variant Inborn genetic diseases [RCV004683690] Chr18:33744106 [GRCh38]
Chr18:31324070 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4904dup (p.Gln1636fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265367] Chr18:33744751..33744752 [GRCh38]
Chr18:31324715..31324716 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3374_3377dup (p.Thr1127fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265435] Chr18:33743220..33743221 [GRCh38]
Chr18:31323184..31323185 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.4156del (p.Ser1386fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265436] Chr18:33744004 [GRCh38]
Chr18:31323968 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.3500C>A (p.Ser1167Tyr) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265439] Chr18:33743348 [GRCh38]
Chr18:31323312 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1479_1480del (p.Pro494fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265443] Chr18:33738882..33738883 [GRCh38]
Chr18:31318846..31318847 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1207C>T (p.Gln403Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265445] Chr18:33738611 [GRCh38]
Chr18:31318575 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.246+180A>G single nucleotide variant not provided [RCV001545556] Chr18:33645182 [GRCh38]
Chr18:31225146 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1579dup (p.Gln527fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265432] Chr18:33738979..33738980 [GRCh38]
Chr18:31318943..31318944 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1189C>T (p.Gln397Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265437]|not provided [RCV001577479] Chr18:33738593 [GRCh38]
Chr18:31318557 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1821del (p.Ala606_Cys607insTer) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265449] Chr18:33739225 [GRCh38]
Chr18:31319189 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs) deletion Inborn genetic diseases [RCV001266016]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265447] Chr18:33743161..33743164 [GRCh38]
Chr18:31323125..31323128 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1479_1480insTGCT (p.Pro494fs) insertion Inborn genetic diseases [RCV001266975] Chr18:33738883..33738884 [GRCh38]
Chr18:31318847..31318848 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4322C>G (p.Ser1441Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001265230] Chr18:33744170 [GRCh38]
Chr18:31324134 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3230C>G (p.Ala1077Gly) single nucleotide variant Neurodevelopmental abnormality [RCV001264636] Chr18:33743078 [GRCh38]
Chr18:31323042 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4839_4890del (p.Met1614fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001843578]|not provided [RCV001268914] Chr18:33744687..33744738 [GRCh38]
Chr18:31324651..31324702 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.3332_3333del (p.Phe1111fs) deletion Inborn genetic diseases [RCV001267436] Chr18:33743179..33743180 [GRCh38]
Chr18:31323143..31323144 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1389_1390del (p.Cys463_Glu464delinsTer) microsatellite Inborn genetic diseases [RCV001265927]|not provided [RCV002305583] Chr18:33738791..33738792 [GRCh38]
Chr18:31318755..31318756 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3033dup (p.Leu1012fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001263212] Chr18:33740436..33740437 [GRCh38]
Chr18:31320400..31320401 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1802dup (p.Leu602fs) duplication Inborn genetic diseases [RCV001265990] Chr18:33739205..33739206 [GRCh38]
Chr18:31319169..31319170 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.5623A>T (p.Lys1875Ter) single nucleotide variant Inborn genetic diseases [RCV001267443] Chr18:33745471 [GRCh38]
Chr18:31325435 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.2658T>C (p.Phe886=) single nucleotide variant not provided [RCV001572448] Chr18:33740062 [GRCh38]
Chr18:31320026 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2672A>G (p.Asp891Gly) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001262611] Chr18:33740076 [GRCh38]
Chr18:31320040 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.314C>A (p.Thr105Lys) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001329421] Chr18:33646312 [GRCh38]
Chr18:31226276 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4439C>T (p.Thr1480Met) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001329422] Chr18:33744287 [GRCh38]
Chr18:31324251 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5096C>A (p.Ala1699Asp) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001329423] Chr18:33744944 [GRCh38]
Chr18:31324908 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3065del (p.Pro1022fs) deletion not provided [RCV001281587] Chr18:33742912 [GRCh38]
Chr18:31322876 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1444del (p.Ser482fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001333267] Chr18:33738846 [GRCh38]
Chr18:31318810 [GRCh37]
Chr18:18q12.1		 pathogenic
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
NM_030632.3(ASXL3):c.3500C>T (p.Ser1167Phe) single nucleotide variant not provided [RCV001358165] Chr18:33743348 [GRCh38]
Chr18:31323312 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3049del (p.Ser1017fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001333268] Chr18:33742895 [GRCh38]
Chr18:31322859 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1801C>T (p.Gln601Ter) single nucleotide variant not provided [RCV001291620] Chr18:33739205 [GRCh38]
Chr18:31319169 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.6190A>G (p.Thr2064Ala) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001329425] Chr18:33746038 [GRCh38]
Chr18:31326002 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6107C>G (p.Pro2036Arg) single nucleotide variant Inborn genetic diseases [RCV004035674]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001329424] Chr18:33745955 [GRCh38]
Chr18:31325919 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.2579T>A (p.Met860Lys) single nucleotide variant ASXL3-related disorder [RCV003898339]|not provided [RCV001655718]|not specified [RCV001357222] Chr18:33739983 [GRCh38]
Chr18:31319947 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.2560G>C (p.Glu854Gln) single nucleotide variant not provided [RCV001313440] Chr18:33739964 [GRCh38]
Chr18:31319928 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6110C>T (p.Pro2037Leu) single nucleotide variant not provided [RCV001357208] Chr18:33745958 [GRCh38]
Chr18:31325922 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=) single nucleotide variant ASXL3-related disorder [RCV003921184]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260170]|not provided [RCV001527770]|not specified [RCV001821850] Chr18:33743172 [GRCh38]
Chr18:31323136 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.2193G>A (p.Val731=) single nucleotide variant ASXL3-related disorder [RCV004749711]|not provided [RCV001538665] Chr18:33739597 [GRCh38]
Chr18:31319561 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.5153del (p.Glu1718fs) deletion not provided [RCV001385123] Chr18:33745001 [GRCh38]
Chr18:31324965 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4239C>T (p.Val1413=) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260191]|not provided [RCV001541870]|not specified [RCV001821861] Chr18:33744087 [GRCh38]
Chr18:31324051 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3629C>A (p.Ser1210Ter) single nucleotide variant not provided [RCV001390259] Chr18:33743477 [GRCh38]
Chr18:31323441 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.2992G>A (p.Glu998Lys) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001542395] Chr18:33740396 [GRCh38]
Chr18:31320360 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3263del (p.Gly1088fs) deletion not provided [RCV001388789] Chr18:33743109 [GRCh38]
Chr18:31323073 [GRCh37]
Chr18:18q12.1		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NM_030632.3(ASXL3):c.477+254C>T single nucleotide variant not provided [RCV001535375] Chr18:33661991 [GRCh38]
Chr18:31241955 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.5122A>G (p.Met1708Val) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001553868]|not provided [RCV001647362]|not specified [RCV001529939] Chr18:33744970 [GRCh38]
Chr18:31324934 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.1082+56C>T single nucleotide variant not provided [RCV001666370] Chr18:33734471 [GRCh38]
Chr18:31314435 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.977-78A>G single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260332]|not provided [RCV001679271] Chr18:33734232 [GRCh38]
Chr18:31314196 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.2583A>T (p.Ile861=) single nucleotide variant ASXL3-related disorder [RCV003910936]|not provided [RCV001619271] Chr18:33739987 [GRCh38]
Chr18:31319951 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.5819del (p.Gly1940fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001527607] Chr18:33745664 [GRCh38]
Chr18:31325628 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1083-197C>T single nucleotide variant not provided [RCV001725380] Chr18:33738290 [GRCh38]
Chr18:31318254 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.3892A>G (p.Lys1298Glu) single nucleotide variant Inborn genetic diseases [RCV003163792]|not provided [RCV001692922] Chr18:33743740 [GRCh38]
Chr18:31323704 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.6053C>T (p.Pro2018Leu) single nucleotide variant not provided [RCV001686448] Chr18:33745901 [GRCh38]
Chr18:31325865 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.6102T>C (p.Pro2034=) single nucleotide variant not provided [RCV001588124] Chr18:33745950 [GRCh38]
Chr18:31325914 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.54+306C>T single nucleotide variant not provided [RCV001610904] Chr18:33578991 [GRCh38]
Chr18:31158955 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.2537A>G (p.Lys846Arg) single nucleotide variant ASXL3-related disorder [RCV003913324]|Inborn genetic diseases [RCV002539720]|not provided [RCV001710075] Chr18:33739941 [GRCh38]
Chr18:31319905 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.1082+342T>C single nucleotide variant not provided [RCV001687067] Chr18:33734757 [GRCh38]
Chr18:31314721 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.6070_6071dup (p.Pro2025fs) duplication not provided [RCV001695696] Chr18:33745914..33745915 [GRCh38]
Chr18:31325878..31325879 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.477+67G>C single nucleotide variant not provided [RCV001670402] Chr18:33661804 [GRCh38]
Chr18:31241768 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.355+282G>A single nucleotide variant not provided [RCV001614524] Chr18:33646635 [GRCh38]
Chr18:31226599 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.621A>T (p.Ala207=) single nucleotide variant ASXL3-related disorder [RCV003948686]|not provided [RCV001713977] Chr18:33671772 [GRCh38]
Chr18:31251736 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.4382C>T (p.Ala1461Val) single nucleotide variant Inborn genetic diseases [RCV004039499]|not provided [RCV001585304] Chr18:33744230 [GRCh38]
Chr18:31324194 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3465G>A (p.Ser1155=) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002260306]|not provided [RCV001670708]|not specified [RCV001821949] Chr18:33743313 [GRCh38]
Chr18:31323277 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.716-273dup duplication not provided [RCV001592064] Chr18:33683125..33683126 [GRCh38]
Chr18:31263089..31263090 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1714del (p.Lys571_Ile572insTer) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001706896] Chr18:33739115 [GRCh38]
Chr18:31319079 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.976+120A>G single nucleotide variant not provided [RCV001652808] Chr18:33732184 [GRCh38]
Chr18:31312148 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.2396C>T (p.Ser799Phe) single nucleotide variant Inborn genetic diseases [RCV002539605]|not provided [RCV001653079] Chr18:33739800 [GRCh38]
Chr18:31319764 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1465G>T (p.Glu489Ter) single nucleotide variant not provided [RCV001380144] Chr18:33738869 [GRCh38]
Chr18:31318833 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.138-334_138-333insC insertion not provided [RCV001536645] Chr18:33644560..33644561 [GRCh38]
Chr18:31224524..31224525 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5645A>G (p.His1882Arg) single nucleotide variant not provided [RCV004784581] Chr18:33745493 [GRCh38]
Chr18:31325457 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3988G>A (p.Ala1330Thr) single nucleotide variant Inborn genetic diseases [RCV004040028]|not provided [RCV001732372] Chr18:33743836 [GRCh38]
Chr18:31323800 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2506C>A (p.Gln836Lys) single nucleotide variant not provided [RCV001732467] Chr18:33739910 [GRCh38]
Chr18:31319874 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5149G>A (p.Glu1717Lys) single nucleotide variant not provided [RCV002273539] Chr18:33744997 [GRCh38]
Chr18:31324961 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.990A>G (p.Pro330=) single nucleotide variant ASXL3-related disorder [RCV003948703]|not provided [RCV001762882] Chr18:33734323 [GRCh38]
Chr18:31314287 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.5954G>T (p.Arg1985Met) single nucleotide variant not provided [RCV003237603] Chr18:33745802 [GRCh38]
Chr18:31325766 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.715+5G>C single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001771799] Chr18:33671871 [GRCh38]
Chr18:31251835 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.4054A>G (p.Asn1352Asp) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001784108]|not provided [RCV001843597] Chr18:33743902 [GRCh38]
Chr18:31323866 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.5102G>C (p.Ser1701Thr) single nucleotide variant not provided [RCV001764093] Chr18:33744950 [GRCh38]
Chr18:31324914 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1568C>T (p.Ser523Leu) single nucleotide variant not provided [RCV001760969] Chr18:33738972 [GRCh38]
Chr18:31318936 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3137_3144del (p.Gly1046fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001754564] Chr18:33742985..33742992 [GRCh38]
Chr18:31322949..31322956 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3750_3753dup (p.His1252fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001784938] Chr18:33743595..33743596 [GRCh38]
Chr18:31323559..31323560 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1667_1668del (p.Thr556fs) microsatellite Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001784944] Chr18:33739068..33739069 [GRCh38]
Chr18:31319032..31319033 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1864dup (p.Cys622fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001775304] Chr18:33739267..33739268 [GRCh38]
Chr18:31319231..31319232 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.6078_6083del (p.Pro2027_Pro2028del) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001733736] Chr18:33745924..33745929 [GRCh38]
Chr18:31325888..31325893 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity
NM_030632.3(ASXL3):c.3712G>C (p.Val1238Leu) single nucleotide variant not provided [RCV001765521] Chr18:33743560 [GRCh38]
Chr18:31323524 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4465G>C (p.Val1489Leu) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001784170] Chr18:33744313 [GRCh38]
Chr18:31324277 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5321A>C (p.Glu1774Ala) single nucleotide variant not provided [RCV001774197] Chr18:33745169 [GRCh38]
Chr18:31325133 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4920G>A (p.Lys1640=) single nucleotide variant not provided [RCV001765978] Chr18:33744768 [GRCh38]
Chr18:31324732 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4531G>A (p.Val1511Ile) single nucleotide variant not provided [RCV001764945] Chr18:33744379 [GRCh38]
Chr18:31324343 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.1269C>A (p.Cys423Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001775277] Chr18:33738673 [GRCh38]
Chr18:31318637 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4403C>G (p.Ser1468Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001775347] Chr18:33744251 [GRCh38]
Chr18:31324215 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1402G>T (p.Glu468Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001775368] Chr18:33738806 [GRCh38]
Chr18:31318770 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.4899T>A (p.Tyr1633Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001775417] Chr18:33744747 [GRCh38]
Chr18:31324711 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.5433G>C (p.Leu1811Phe) single nucleotide variant not provided [RCV001774230] Chr18:33745281 [GRCh38]
Chr18:31325245 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2160dup (p.Asp721Ter) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001780655] Chr18:33739563..33739564 [GRCh38]
Chr18:31319527..31319528 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1828G>A (p.Glu610Lys) single nucleotide variant not provided [RCV001765856] Chr18:33739232 [GRCh38]
Chr18:31319196 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2723T>A (p.Ile908Asn) single nucleotide variant not provided [RCV001760970] Chr18:33740127 [GRCh38]
Chr18:31320091 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3039+5G>A single nucleotide variant not provided [RCV001774075] Chr18:33740448 [GRCh38]
Chr18:31320412 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6380T>C (p.Leu2127Pro) single nucleotide variant not provided [RCV001762977] Chr18:33746228 [GRCh38]
Chr18:31326192 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1898A>T (p.Gln633Leu) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001784169] Chr18:33739302 [GRCh38]
Chr18:31319266 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3039+1G>T single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001795589] Chr18:33740444 [GRCh38]
Chr18:31320408 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1597G>T (p.Val533Phe) single nucleotide variant not provided [RCV001779876] Chr18:33739001 [GRCh38]
Chr18:31318965 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2612G>A (p.Arg871Lys) single nucleotide variant not provided [RCV001756840] Chr18:33740016 [GRCh38]
Chr18:31319980 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5561T>C (p.Val1854Ala) single nucleotide variant not provided [RCV001797456] Chr18:33745409 [GRCh38]
Chr18:31325373 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6379C>T (p.Leu2127Phe) single nucleotide variant not provided [RCV001797480] Chr18:33746227 [GRCh38]
Chr18:31326191 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.694C>A (p.Arg232=) single nucleotide variant not specified [RCV001817184] Chr18:33671845 [GRCh38]
Chr18:31251809 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1621G>A (p.Asp541Asn) single nucleotide variant Inborn genetic diseases [RCV002543922]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001733737] Chr18:33739025 [GRCh38]
Chr18:31318989 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.332A>C (p.Asn111Thr) single nucleotide variant not provided [RCV001758819] Chr18:33646330 [GRCh38]
Chr18:31226294 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3514T>A (p.Ser1172Thr) single nucleotide variant not provided [RCV001757983] Chr18:33743362 [GRCh38]
Chr18:31323326 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4706_4710del (p.Lys1568_Leu1569insTer) microsatellite not provided [RCV001817898] Chr18:33744549..33744553 [GRCh38]
Chr18:31324513..31324517 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.4845G>T (p.Arg1615Ser) single nucleotide variant ASXL3-related disorder [RCV004749744]|Inborn genetic diseases [RCV002542553]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003136176]|not specified [RCV001819245] Chr18:33744693 [GRCh38]
Chr18:31324657 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.6308A>G (p.Tyr2103Cys) single nucleotide variant not specified [RCV001820420] Chr18:33746156 [GRCh38]
Chr18:31326120 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4538C>G (p.Pro1513Arg) single nucleotide variant Inborn genetic diseases [RCV003247031]|not provided [RCV004809675]|not specified [RCV001815085] Chr18:33744386 [GRCh38]
Chr18:31324350 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.879G>A (p.Gln293=) single nucleotide variant not provided [RCV001806530] Chr18:33683568 [GRCh38]
Chr18:31263532 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3688C>T (p.Leu1230Phe) single nucleotide variant not provided [RCV001806533] Chr18:33743536 [GRCh38]
Chr18:31323500 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4471G>A (p.Val1491Ile) single nucleotide variant not specified [RCV001819676] Chr18:33744319 [GRCh38]
Chr18:31324283 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5386G>A (p.Val1796Ile) single nucleotide variant not specified [RCV001820370] Chr18:33745234 [GRCh38]
Chr18:31325198 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5819G>A (p.Gly1940Asp) single nucleotide variant Inborn genetic diseases [RCV004040984]|not specified [RCV001820388] Chr18:33745667 [GRCh38]
Chr18:31325631 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4629G>A (p.Ser1543=) single nucleotide variant not provided [RCV004704659]|not specified [RCV001820669] Chr18:33744477 [GRCh38]
Chr18:31324441 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2830G>A (p.Glu944Lys) single nucleotide variant not provided [RCV004798422] Chr18:33740234 [GRCh38]
Chr18:31320198 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3722G>C (p.Cys1241Ser) single nucleotide variant not provided [RCV001822065] Chr18:33743570 [GRCh38]
Chr18:31323534 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4163G>A (p.Gly1388Asp) single nucleotide variant not provided [RCV004809116] Chr18:33744011 [GRCh38]
Chr18:31323975 [GRCh37]
Chr18:18q12.1		 likely benign
Single allele deletion Deletion of long arm of chromosome 18 [RCV004801487] Chr18:23614482..49306881 [GRCh38]
Chr18:18q11.2-21.1		 pathogenic
NM_030632.3(ASXL3):c.2047A>G (p.Ile683Val) single nucleotide variant not provided [RCV001814721] Chr18:33739451 [GRCh38]
Chr18:31319415 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5798A>G (p.Gln1933Arg) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001809247] Chr18:33745646 [GRCh38]
Chr18:31325610 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4826G>A (p.Trp1609Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001837193] Chr18:33744674 [GRCh38]
Chr18:31324638 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.6335T>A (p.Leu2112Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV001837223] Chr18:33746183 [GRCh38]
Chr18:31326147 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_030632.3(ASXL3):c.694C>T (p.Arg232Ter) single nucleotide variant ASXL3-related disorder [RCV004728986]|not provided [RCV002000136] Chr18:33671845 [GRCh38]
Chr18:31251809 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.61G>A (p.Glu21Lys) single nucleotide variant not provided [RCV001931004] Chr18:33607600 [GRCh38]
Chr18:31187564 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.695G>A (p.Arg232Gln) single nucleotide variant not provided [RCV001898681] Chr18:33671846 [GRCh38]
Chr18:31251810 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3763G>A (p.Val1255Met) single nucleotide variant not provided [RCV002034855] Chr18:33743611 [GRCh38]
Chr18:31323575 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3296T>A (p.Leu1099Gln) single nucleotide variant not provided [RCV002034860] Chr18:33743144 [GRCh38]
Chr18:31323108 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5252C>T (p.Thr1751Met) single nucleotide variant not provided [RCV002226123] Chr18:33745100 [GRCh38]
Chr18:31325064 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3443dup (p.Pro1148_Glu1149insTer) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002226925] Chr18:33743287..33743288 [GRCh38]
Chr18:31323251..31323252 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3337A>G (p.Lys1113Glu) single nucleotide variant not provided [RCV002224900] Chr18:33743185 [GRCh38]
Chr18:31323149 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.419C>T (p.Ala140Val) single nucleotide variant Inborn genetic diseases [RCV003101234]|not provided [RCV002214069] Chr18:33661679 [GRCh38]
Chr18:31241643 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1274_1278del (p.Met425fs) deletion not provided [RCV002214070] Chr18:33738676..33738680 [GRCh38]
Chr18:31318640..31318644 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.6033C>A (p.Asn2011Lys) single nucleotide variant ASXL3-related disorder [RCV004749884]|not provided [RCV002214071] Chr18:33745881 [GRCh38]
Chr18:31325845 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.493C>T (p.Gln165Ter) single nucleotide variant not provided [RCV002245142] Chr18:33670688 [GRCh38]
Chr18:31250652 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.2002del (p.Thr668fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002227682] Chr18:33739406 [GRCh38]
Chr18:31319370 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.3498A>C (p.Arg1166Ser) single nucleotide variant See cases [RCV002252931] Chr18:33743346 [GRCh38]
Chr18:31323310 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6254C>G (p.Ser2085Cys) single nucleotide variant not provided [RCV003123282] Chr18:33746102 [GRCh38]
Chr18:31326066 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4087del (p.Met1363fs) deletion not provided [RCV004784482] Chr18:33743934 [GRCh38]
Chr18:31323898 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.3224C>T (p.Ala1075Val) single nucleotide variant not specified [RCV003123529] Chr18:33743072 [GRCh38]
Chr18:31323036 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3202C>T (p.Arg1068Ter) single nucleotide variant not provided [RCV003123149] Chr18:33743050 [GRCh38]
Chr18:31323014 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.2099T>G (p.Leu700Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004689571] Chr18:33739503 [GRCh38]
Chr18:31319467 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3007C>A (p.Pro1003Thr) single nucleotide variant not provided [RCV004776939] Chr18:33740411 [GRCh38]
Chr18:31320375 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2068T>C (p.Ser690Pro) single nucleotide variant not provided [RCV003154142] Chr18:33739472 [GRCh38]
Chr18:31319436 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4624del (p.Ala1542fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003152980] Chr18:33744472 [GRCh38]
Chr18:31324436 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.2896A>T (p.Thr966Ser) single nucleotide variant not provided [RCV003128932] Chr18:33740300 [GRCh38]
Chr18:31320264 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1377_1378del (p.Glu459fs) microsatellite Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003148565]|not provided [RCV003443176] Chr18:33738778..33738779 [GRCh38]
Chr18:31318742..31318743 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.3807T>G (p.Ser1269Arg) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002248973] Chr18:33743655 [GRCh38]
Chr18:31323619 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.5544G>T (p.Leu1848Phe) single nucleotide variant See cases [RCV002253070] Chr18:33745392 [GRCh38]
Chr18:31325356 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4660G>A (p.Ala1554Thr) single nucleotide variant not provided [RCV002255007] Chr18:33744508 [GRCh38]
Chr18:31324472 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4456_4461del (p.1484SL[1]) deletion See cases [RCV002252523] Chr18:33744302..33744307 [GRCh38]
Chr18:31324266..31324271 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.953G>T (p.Gly318Val) single nucleotide variant See cases [RCV002252960] Chr18:33732041 [GRCh38]
Chr18:31312005 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5353A>T (p.Thr1785Ser) single nucleotide variant not provided [RCV002273588] Chr18:33745201 [GRCh38]
Chr18:31325165 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5975C>T (p.Pro1992Leu) single nucleotide variant not provided [RCV002273692] Chr18:33745823 [GRCh38]
Chr18:31325787 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5019C>T (p.His1673=) single nucleotide variant not provided [RCV002275530] Chr18:33744867 [GRCh38]
Chr18:31324831 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6548A>G (p.Asn2183Ser) single nucleotide variant not provided [RCV002278941] Chr18:33746396 [GRCh38]
Chr18:31326360 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_030632.3(ASXL3):c.1072_1074delinsAA (p.Tyr358fs) indel not provided [RCV002276053] Chr18:33734405..33734407 [GRCh38]
Chr18:31314369..31314371 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3745_3748delinsTTT (p.Ile1249fs) indel not provided [RCV002275528] Chr18:33743593..33743596 [GRCh38]
Chr18:31323557..31323560 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4120A>T (p.Ile1374Leu) single nucleotide variant not provided [RCV002275529] Chr18:33743968 [GRCh38]
Chr18:31323932 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1059C>A (p.Phe353Leu) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002290413] Chr18:33734392 [GRCh38]
Chr18:31314356 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4367C>T (p.Pro1456Leu) single nucleotide variant not provided [RCV002275845] Chr18:33744215 [GRCh38]
Chr18:31324179 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5309G>A (p.Gly1770Glu) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002276483]|not provided [RCV003408198] Chr18:33745157 [GRCh38]
Chr18:31325121 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6684_6687dup (p.Cys2230fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002283950] Chr18:33746530..33746531 [GRCh38]
Chr18:31326494..31326495 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.5992G>A (p.Glu1998Lys) single nucleotide variant See cases [RCV002287724] Chr18:33745840 [GRCh38]
Chr18:31325804 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002471271]|not provided [RCV002267256] Chr18:33745315 [GRCh38]
Chr18:31325279 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.5672G>A (p.Ser1891Asn) single nucleotide variant not provided [RCV002281401] Chr18:33745520 [GRCh38]
Chr18:31325484 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.1957G>A (p.Val653Ile) single nucleotide variant Inborn genetic diseases [RCV003101651]|See cases [RCV002287790] Chr18:33739361 [GRCh38]
Chr18:31319325 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.2153C>T (p.Pro718Leu) single nucleotide variant not provided [RCV002265350] Chr18:33739557 [GRCh38]
Chr18:31319521 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1853C>T (p.Pro618Leu) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002289196] Chr18:33739257 [GRCh38]
Chr18:31319221 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3275dup (p.Gly1094fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002290066] Chr18:33743122..33743123 [GRCh38]
Chr18:31323086..31323087 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1589T>C (p.Met530Thr) single nucleotide variant Inborn genetic diseases [RCV003101678]|not provided [RCV002291905] Chr18:33738993 [GRCh38]
Chr18:31318957 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.4890_4893del (p.Lys1631fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002287629] Chr18:33744737..33744740 [GRCh38]
Chr18:31324701..31324704 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1243G>T (p.Glu415Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002283785] Chr18:33738647 [GRCh38]
Chr18:31318611 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.2234G>C (p.Ser745Thr) single nucleotide variant not provided [RCV002293882] Chr18:33739638 [GRCh38]
Chr18:31319602 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3851C>T (p.Thr1284Ile) single nucleotide variant not provided [RCV002281501] Chr18:33743699 [GRCh38]
Chr18:31323663 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5252C>G (p.Thr1751Arg) single nucleotide variant not specified [RCV002266134] Chr18:33745100 [GRCh38]
Chr18:31325064 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1419dup (p.Pro474fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002468728] Chr18:33738822..33738823 [GRCh38]
Chr18:31318786..31318787 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3092C>T (p.Ser1031Phe) single nucleotide variant not provided [RCV003128974] Chr18:33742940 [GRCh38]
Chr18:31322904 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6147A>T (p.Glu2049Asp) single nucleotide variant not provided [RCV003129459] Chr18:33745995 [GRCh38]
Chr18:31325959 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6469A>G (p.Ile2157Val) single nucleotide variant not provided [RCV003129538] Chr18:33746317 [GRCh38]
Chr18:31326281 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1903A>C (p.Thr635Pro) single nucleotide variant not provided [RCV003156622] Chr18:33739307 [GRCh38]
Chr18:31319271 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3011G>T (p.Arg1004Ile) single nucleotide variant not provided [RCV003129178] Chr18:33740415 [GRCh38]
Chr18:31320379 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2278A>G (p.Ile760Val) single nucleotide variant Inborn genetic diseases [RCV003288161] Chr18:33739682 [GRCh38]
Chr18:31319646 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:30988810-31359711)x1 copy number loss not provided [RCV002472606] Chr18:30988810..31359711 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1897_1898del (p.Gln633fs) microsatellite not provided [RCV002474078] Chr18:33739298..33739299 [GRCh38]
Chr18:31319262..31319263 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3894dup (p.Cys1299fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002463976] Chr18:33743738..33743739 [GRCh38]
Chr18:31323702..31323703 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1090A>G (p.Met364Val) single nucleotide variant not provided [RCV002469665] Chr18:33738494 [GRCh38]
Chr18:31318458 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3413G>A (p.Gly1138Glu) single nucleotide variant not provided [RCV002464848] Chr18:33743261 [GRCh38]
Chr18:31323225 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1990C>T (p.Gln664Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002510702]|not provided [RCV003456532] Chr18:33739394 [GRCh38]
Chr18:31319358 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.2542T>A (p.Tyr848Asn) single nucleotide variant not specified [RCV002470134] Chr18:33739946 [GRCh38]
Chr18:31319910 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6477T>C (p.Phe2159=) single nucleotide variant ASXL3-related disorder [RCV003954060]|not specified [RCV003151634] Chr18:33746325 [GRCh38]
Chr18:31326289 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2044C>T (p.Pro682Ser) single nucleotide variant not specified [RCV002470135] Chr18:33739448 [GRCh38]
Chr18:31319412 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6709C>T (p.Pro2237Ser) single nucleotide variant not provided [RCV002467338] Chr18:33746557 [GRCh38]
Chr18:31326521 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.36G>A (p.Trp12Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003130454] Chr18:33578667 [GRCh38]
Chr18:31158631 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.6536G>A (p.Gly2179Glu) single nucleotide variant not provided [RCV004585233] Chr18:33746384 [GRCh38]
Chr18:31326348 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3811_3814dup (p.Thr1272fs) duplication not provided [RCV002306161] Chr18:33743656..33743657 [GRCh38]
Chr18:31323620..31323621 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.2173A>G (p.Thr725Ala) single nucleotide variant not provided [RCV002300898] Chr18:33739577 [GRCh38]
Chr18:31319541 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.933C>A (p.Phe311Leu) single nucleotide variant not provided [RCV002306091] Chr18:33732021 [GRCh38]
Chr18:31311985 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.520A>G (p.Met174Val) single nucleotide variant Inborn genetic diseases [RCV002772085] Chr18:33670715 [GRCh38]
Chr18:31250679 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1591A>G (p.Thr531Ala) single nucleotide variant Inborn genetic diseases [RCV002990605]|not provided [RCV004721145] Chr18:33738995 [GRCh38]
Chr18:31318959 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1343C>A (p.Ser448Tyr) single nucleotide variant Inborn genetic diseases [RCV002818453] Chr18:33738747 [GRCh38]
Chr18:31318711 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5516C>T (p.Thr1839Ile) single nucleotide variant Inborn genetic diseases [RCV002864234] Chr18:33745364 [GRCh38]
Chr18:31325328 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6205T>G (p.Trp2069Gly) single nucleotide variant Inborn genetic diseases [RCV002841590] Chr18:33746053 [GRCh38]
Chr18:31326017 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3632A>C (p.His1211Pro) single nucleotide variant Inborn genetic diseases [RCV002859736] Chr18:33743480 [GRCh38]
Chr18:31323444 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2681G>T (p.Gly894Val) single nucleotide variant Inborn genetic diseases [RCV002772993] Chr18:33740085 [GRCh38]
Chr18:31320049 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4754G>A (p.Gly1585Asp) single nucleotide variant Inborn genetic diseases [RCV002753093] Chr18:33744602 [GRCh38]
Chr18:31324566 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6512T>C (p.Ile2171Thr) single nucleotide variant not provided [RCV002511457] Chr18:33746360 [GRCh38]
Chr18:31326324 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1332C>G (p.Ile444Met) single nucleotide variant Inborn genetic diseases [RCV002684494] Chr18:33738736 [GRCh38]
Chr18:31318700 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2317_2319del (p.Ser773del) deletion not provided [RCV002863086] Chr18:33739719..33739721 [GRCh38]
Chr18:31319683..31319685 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5183A>T (p.Lys1728Met) single nucleotide variant Inborn genetic diseases [RCV002778239] Chr18:33745031 [GRCh38]
Chr18:31324995 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1245G>C (p.Glu415Asp) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003140257]|not provided [RCV003129395] Chr18:33738649 [GRCh38]
Chr18:31318613 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:31107959-31289885)x3 copy number gain not provided [RCV002475706] Chr18:31107959..31289885 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6107C>T (p.Pro2036Leu) single nucleotide variant ASXL3-related disorder [RCV003900886]|Inborn genetic diseases [RCV002708222] Chr18:33745955 [GRCh38]
Chr18:31325919 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.3122C>T (p.Thr1041Ile) single nucleotide variant Inborn genetic diseases [RCV002783793] Chr18:33742970 [GRCh38]
Chr18:31322934 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3799G>C (p.Val1267Leu) single nucleotide variant Inborn genetic diseases [RCV002798679] Chr18:33743647 [GRCh38]
Chr18:31323611 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3193C>T (p.Arg1065Trp) single nucleotide variant Inborn genetic diseases [RCV002661362]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003140152] Chr18:33743041 [GRCh38]
Chr18:31323005 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3527G>A (p.Arg1176Gln) single nucleotide variant Inborn genetic diseases [RCV002694274] Chr18:33743375 [GRCh38]
Chr18:31323339 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.613G>A (p.Gly205Ser) single nucleotide variant Inborn genetic diseases [RCV002910412] Chr18:33671764 [GRCh38]
Chr18:31251728 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1381A>G (p.Ser461Gly) single nucleotide variant Inborn genetic diseases [RCV002869640]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003448486] Chr18:33738785 [GRCh38]
Chr18:31318749 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3130A>G (p.Ser1044Gly) single nucleotide variant ASXL3-related disorder [RCV003906600]|Inborn genetic diseases [RCV002951857]|not provided [RCV004721142] Chr18:33742978 [GRCh38]
Chr18:31322942 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.4531G>C (p.Val1511Leu) single nucleotide variant Inborn genetic diseases [RCV002977236] Chr18:33744379 [GRCh38]
Chr18:31324343 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4356del (p.Lys1452fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002795898] Chr18:33744201 [GRCh38]
Chr18:31324165 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1519G>C (p.Asp507His) single nucleotide variant Inborn genetic diseases [RCV002782475] Chr18:33738923 [GRCh38]
Chr18:31318887 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6616G>A (p.Ala2206Thr) single nucleotide variant Inborn genetic diseases [RCV002888541] Chr18:33746464 [GRCh38]
Chr18:31326428 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4905G>C (p.Glu1635Asp) single nucleotide variant Inborn genetic diseases [RCV002661610] Chr18:33744753 [GRCh38]
Chr18:31324717 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1454A>C (p.Asn485Thr) single nucleotide variant Inborn genetic diseases [RCV002799722] Chr18:33738858 [GRCh38]
Chr18:31318822 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2807C>T (p.Thr936Ile) single nucleotide variant Inborn genetic diseases [RCV002799290] Chr18:33740211 [GRCh38]
Chr18:31320175 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1378dup (p.Thr460fs) duplication not provided [RCV002927341] Chr18:33738781..33738782 [GRCh38]
Chr18:31318745..31318746 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3305T>A (p.Ile1102Asn) single nucleotide variant Inborn genetic diseases [RCV002850631] Chr18:33743153 [GRCh38]
Chr18:31323117 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3975A>G (p.Ile1325Met) single nucleotide variant Inborn genetic diseases [RCV002713519] Chr18:33743823 [GRCh38]
Chr18:31323787 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6098C>T (p.Pro2033Leu) single nucleotide variant Inborn genetic diseases [RCV002664780] Chr18:33745946 [GRCh38]
Chr18:31325910 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4211C>T (p.Thr1404Ile) single nucleotide variant Inborn genetic diseases [RCV002930830] Chr18:33744059 [GRCh38]
Chr18:31324023 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4751G>A (p.Arg1584His) single nucleotide variant Inborn genetic diseases [RCV002764195] Chr18:33744599 [GRCh38]
Chr18:31324563 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.902_911del (p.Arg301fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002789968] Chr18:33731987..33731996 [GRCh38]
Chr18:31311951..31311960 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3976T>C (p.Ser1326Pro) single nucleotide variant Inborn genetic diseases [RCV003006583] Chr18:33743824 [GRCh38]
Chr18:31323788 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4450A>C (p.Ser1484Arg) single nucleotide variant not provided [RCV002508621] Chr18:33744298 [GRCh38]
Chr18:31324262 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5584A>G (p.Ser1862Gly) single nucleotide variant Inborn genetic diseases [RCV002984723] Chr18:33745432 [GRCh38]
Chr18:31325396 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4687C>T (p.Pro1563Ser) single nucleotide variant Inborn genetic diseases [RCV002826651] Chr18:33744535 [GRCh38]
Chr18:31324499 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5177C>G (p.Ala1726Gly) single nucleotide variant Inborn genetic diseases [RCV002826725] Chr18:33745025 [GRCh38]
Chr18:31324989 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4132G>C (p.Gly1378Arg) single nucleotide variant Inborn genetic diseases [RCV002644618] Chr18:33743980 [GRCh38]
Chr18:31323944 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1271del (p.Pro424fs) deletion Inborn genetic diseases [RCV002874109]|not provided [RCV004794617] Chr18:33738673 [GRCh38]
Chr18:31318637 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.1678G>A (p.Glu560Lys) single nucleotide variant Inborn genetic diseases [RCV002712489] Chr18:33739082 [GRCh38]
Chr18:31319046 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6110C>A (p.Pro2037Gln) single nucleotide variant Inborn genetic diseases [RCV002698632] Chr18:33745958 [GRCh38]
Chr18:31325922 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.29G>A (p.Arg10His) single nucleotide variant Inborn genetic diseases [RCV002742305] Chr18:33578660 [GRCh38]
Chr18:31158624 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.715+5G>A single nucleotide variant not provided [RCV003059967] Chr18:33671871 [GRCh38]
Chr18:31251835 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3733A>G (p.Ile1245Val) single nucleotide variant Inborn genetic diseases [RCV002808300] Chr18:33743581 [GRCh38]
Chr18:31323545 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1841C>T (p.Ser614Phe) single nucleotide variant Inborn genetic diseases [RCV002878407] Chr18:33739245 [GRCh38]
Chr18:31319209 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4618A>G (p.Ile1540Val) single nucleotide variant Inborn genetic diseases [RCV002832409] Chr18:33744466 [GRCh38]
Chr18:31324430 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1961_1962insA (p.Ser654_Ser655insTer) insertion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV002810045] Chr18:33739365..33739366 [GRCh38]
Chr18:31319329..31319330 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.2240C>T (p.Pro747Leu) single nucleotide variant Inborn genetic diseases [RCV002674033] Chr18:33739644 [GRCh38]
Chr18:31319608 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1918T>C (p.Cys640Arg) single nucleotide variant Inborn genetic diseases [RCV002855832] Chr18:33739322 [GRCh38]
Chr18:31319286 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6122T>C (p.Leu2041Pro) single nucleotide variant Inborn genetic diseases [RCV002670510] Chr18:33745970 [GRCh38]
Chr18:31325934 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1924C>T (p.Pro642Ser) single nucleotide variant Inborn genetic diseases [RCV002655596]|not provided [RCV004572814] Chr18:33739328 [GRCh38]
Chr18:31319292 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.6553G>A (p.Ala2185Thr) single nucleotide variant not provided [RCV003129198] Chr18:33746401 [GRCh38]
Chr18:31326365 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1558G>A (p.Glu520Lys) single nucleotide variant not provided [RCV004699068] Chr18:33738962 [GRCh38]
Chr18:31318926 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3424T>A (p.Leu1142Ile) single nucleotide variant not provided [RCV004778454] Chr18:33743272 [GRCh38]
Chr18:31323236 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1781T>C (p.Leu594Pro) single nucleotide variant Inborn genetic diseases [RCV003216009] Chr18:33739185 [GRCh38]
Chr18:31319149 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2402A>G (p.Gln801Arg) single nucleotide variant Inborn genetic diseases [RCV003200607] Chr18:33739806 [GRCh38]
Chr18:31319770 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5423A>C (p.Lys1808Thr) single nucleotide variant Inborn genetic diseases [RCV003186435] Chr18:33745271 [GRCh38]
Chr18:31325235 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4591G>A (p.Glu1531Lys) single nucleotide variant not provided [RCV003218890] Chr18:33744439 [GRCh38]
Chr18:31324403 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3287C>T (p.Thr1096Met) single nucleotide variant Inborn genetic diseases [RCV003192078] Chr18:33743135 [GRCh38]
Chr18:31323099 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6589G>A (p.Val2197Ile) single nucleotide variant Inborn genetic diseases [RCV003185845] Chr18:33746437 [GRCh38]
Chr18:31326401 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2876C>T (p.Ser959Leu) single nucleotide variant Inborn genetic diseases [RCV003194978] Chr18:33740280 [GRCh38]
Chr18:31320244 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5111A>G (p.Gln1704Arg) single nucleotide variant Inborn genetic diseases [RCV003209134] Chr18:33744959 [GRCh38]
Chr18:31324923 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3511A>T (p.Lys1171Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003140628] Chr18:33743359 [GRCh38]
Chr18:31323323 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.6366C>A (p.Phe2122Leu) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141615] Chr18:33746214 [GRCh38]
Chr18:31326178 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5468G>T (p.Arg1823Leu) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141616] Chr18:33745316 [GRCh38]
Chr18:31325280 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3526C>T (p.Arg1176Trp) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141618] Chr18:33743374 [GRCh38]
Chr18:31323338 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4011G>T (p.Gln1337His) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141619] Chr18:33743859 [GRCh38]
Chr18:31323823 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4265C>A (p.Thr1422Lys) single nucleotide variant Inborn genetic diseases [RCV003358150]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141620] Chr18:33744113 [GRCh38]
Chr18:31324077 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.464A>G (p.Lys155Arg) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141621] Chr18:33661724 [GRCh38]
Chr18:31241688 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.641T>C (p.Met214Thr) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141622] Chr18:33671792 [GRCh38]
Chr18:31251756 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6251T>C (p.Leu2084Pro) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141623] Chr18:33746099 [GRCh38]
Chr18:31326063 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5076TCC[1] (p.Pro1694del) microsatellite Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141624] Chr18:33744922..33744924 [GRCh38]
Chr18:31324886..31324888 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4904A>G (p.Glu1635Gly) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141625] Chr18:33744752 [GRCh38]
Chr18:31324716 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4944C>G (p.Asn1648Lys) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141626] Chr18:33744792 [GRCh38]
Chr18:31324756 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4228C>T (p.His1410Tyr) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141627] Chr18:33744076 [GRCh38]
Chr18:31324040 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4490G>C (p.Ser1497Thr) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141628] Chr18:33744338 [GRCh38]
Chr18:31324302 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.394C>A (p.Arg132=) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141629] Chr18:33661654 [GRCh38]
Chr18:31241618 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6586C>G (p.Pro2196Ala) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141630] Chr18:33746434 [GRCh38]
Chr18:31326398 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1768A>G (p.Ile590Val) single nucleotide variant Inborn genetic diseases [RCV004246099]|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141631] Chr18:33739172 [GRCh38]
Chr18:31319136 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.5854T>C (p.Ser1952Pro) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141632] Chr18:33745702 [GRCh38]
Chr18:31325666 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1003C>T (p.Arg335Trp) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141633] Chr18:33734336 [GRCh38]
Chr18:31314300 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2591_2597delinsT (p.Lys864_His866delinsIle) indel Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141635] Chr18:33739995..33740001 [GRCh38]
Chr18:31319959..31319965 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.272A>G (p.Asp91Gly) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141636] Chr18:33646270 [GRCh38]
Chr18:31226234 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1716A>G (p.Ile572Met) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003141637]|not provided [RCV004779492] Chr18:33739120 [GRCh38]
Chr18:31319084 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1348A>T (p.Ile450Phe) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003225837] Chr18:33738752 [GRCh38]
Chr18:31318716 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5363G>A (p.Gly1788Asp) single nucleotide variant Inborn genetic diseases [RCV003173878] Chr18:33745211 [GRCh38]
Chr18:31325175 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4534C>T (p.Gln1512Ter) single nucleotide variant not provided [RCV003223821] Chr18:33744382 [GRCh38]
Chr18:31324346 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.2489A>G (p.Asn830Ser) single nucleotide variant Inborn genetic diseases [RCV003212633] Chr18:33739893 [GRCh38]
Chr18:31319857 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3325A>G (p.Lys1109Glu) single nucleotide variant not provided [RCV003321120] Chr18:33743173 [GRCh38]
Chr18:31323137 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1939ACA[1] (p.Thr648del) microsatellite not provided [RCV003319932] Chr18:33739343..33739345 [GRCh38]
Chr18:31319307..31319309 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4540G>A (p.Val1514Met) single nucleotide variant not provided [RCV003319722] Chr18:33744388 [GRCh38]
Chr18:31324352 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2902G>A (p.Glu968Lys) single nucleotide variant not provided [RCV003318883] Chr18:33740306 [GRCh38]
Chr18:31320270 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.4580C>T (p.Pro1527Leu) single nucleotide variant not provided [RCV003322969] Chr18:33744428 [GRCh38]
Chr18:31324392 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3039+1G>C single nucleotide variant not provided [RCV003322237] Chr18:33740444 [GRCh38]
Chr18:31320408 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.2267C>T (p.Ser756Phe) single nucleotide variant not provided [RCV003319895] Chr18:33739671 [GRCh38]
Chr18:31319635 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1977del (p.Asp660fs) deletion not provided [RCV003325390] Chr18:33739381 [GRCh38]
Chr18:31319345 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.6205T>C (p.Trp2069Arg) single nucleotide variant not provided [RCV003325711] Chr18:33746053 [GRCh38]
Chr18:31326017 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3873_3877del (p.Cys1292fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004800120] Chr18:33743721..33743725 [GRCh38]
Chr18:31323685..31323689 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.380A>G (p.Glu127Gly) single nucleotide variant not provided [RCV003328883] Chr18:33661640 [GRCh38]
Chr18:31241604 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1579C>T (p.Gln527Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003326684] Chr18:33738983 [GRCh38]
Chr18:31318947 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_030632.3(ASXL3):c.5270A>G (p.Asn1757Ser) single nucleotide variant not provided [RCV003330045] Chr18:33745118 [GRCh38]
Chr18:31325082 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3470G>A (p.Gly1157Asp) single nucleotide variant not provided [RCV003423059] Chr18:33743318 [GRCh38]
Chr18:31323282 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6108C>A (p.Pro2036=) single nucleotide variant not provided [RCV003423064] Chr18:33745956 [GRCh38]
Chr18:31325920 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2617_2618del (p.Glu873fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003328138] Chr18:33740020..33740021 [GRCh38]
Chr18:31319984..31319985 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.6067C>T (p.Pro2023Ser) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003336641] Chr18:33745915 [GRCh38]
Chr18:31325879 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2950G>A (p.Asp984Asn) single nucleotide variant not provided [RCV003421619] Chr18:33740354 [GRCh38]
Chr18:31320318 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4242A>C (p.Ala1414=) single nucleotide variant not provided [RCV003421622] Chr18:33744090 [GRCh38]
Chr18:31324054 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4080T>G (p.Ile1360Met) single nucleotide variant Inborn genetic diseases [RCV003386176] Chr18:33743928 [GRCh38]
Chr18:31323892 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3095A>G (p.Lys1032Arg) single nucleotide variant Inborn genetic diseases [RCV003351359]|not provided [RCV004763662] Chr18:33742943 [GRCh38]
Chr18:31322907 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.2722A>G (p.Ile908Val) single nucleotide variant Inborn genetic diseases [RCV003355142] Chr18:33740126 [GRCh38]
Chr18:31320090 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.364A>C (p.Lys122Gln) single nucleotide variant Inborn genetic diseases [RCV003376628] Chr18:33661624 [GRCh38]
Chr18:31241588 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6119C>T (p.Pro2040Leu) single nucleotide variant Inborn genetic diseases [RCV003376832] Chr18:33745967 [GRCh38]
Chr18:31325931 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2231C>G (p.Ser744Cys) single nucleotide variant ASXL3-related disorder [RCV003394512] Chr18:33739635 [GRCh38]
Chr18:31319599 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1 copy number loss not provided [RCV003483335] Chr18:26595964..38643072 [GRCh37]
Chr18:18q12.1-12.3		 pathogenic
NM_030632.3(ASXL3):c.336C>T (p.Ala112=) single nucleotide variant not provided [RCV003421615] Chr18:33646334 [GRCh38]
Chr18:31226298 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.588G>C (p.Ser196=) single nucleotide variant not provided [RCV003421616] Chr18:33670783 [GRCh38]
Chr18:31250747 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5743A>C (p.Lys1915Gln) single nucleotide variant not provided [RCV003421625] Chr18:33745591 [GRCh38]
Chr18:31325555 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1113G>A (p.Lys371=) single nucleotide variant not provided [RCV003423056] Chr18:33738517 [GRCh38]
Chr18:31318481 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6056C>G (p.Pro2019Arg) single nucleotide variant not provided [RCV003456997] Chr18:33745904 [GRCh38]
Chr18:31325868 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.137+9017_137+9018del deletion ASXL3-related disorder [RCV003405795] Chr18:33616692..33616693 [GRCh38]
Chr18:31196656..31196657 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6298C>G (p.Gln2100Glu) single nucleotide variant ASXL3-related disorder [RCV004750378]|Inborn genetic diseases [RCV004364554]|not provided [RCV003423066] Chr18:33746146 [GRCh38]
Chr18:31326110 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.3966G>T (p.Gln1322His) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004818871] Chr18:33743814 [GRCh38]
Chr18:31323778 [GRCh37]		 uncertain significance
NM_030632.3(ASXL3):c.1419A>G (p.Ile473Met) single nucleotide variant ASXL3-related disorder [RCV003406051] Chr18:33738823 [GRCh38]
Chr18:31318787 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2213C>T (p.Ser738Phe) single nucleotide variant not provided [RCV003421618] Chr18:33739617 [GRCh38]
Chr18:31319581 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4641A>G (p.Gln1547=) single nucleotide variant not provided [RCV003421623] Chr18:33744489 [GRCh38]
Chr18:31324453 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5931T>A (p.Leu1977=) single nucleotide variant not provided [RCV003421626] Chr18:33745779 [GRCh38]
Chr18:31325743 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6074C>G (p.Pro2025Arg) single nucleotide variant not provided [RCV003423063] Chr18:33745922 [GRCh38]
Chr18:31325886 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.2200A>T (p.Met734Leu) single nucleotide variant not provided [RCV003421617] Chr18:33739604 [GRCh38]
Chr18:31319568 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5894G>C (p.Arg1965Thr) single nucleotide variant ASXL3-related disorder [RCV003399675] Chr18:33745742 [GRCh38]
Chr18:31325706 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.138-17969A>G single nucleotide variant not provided [RCV003421614] Chr18:33626925 [GRCh38]
Chr18:31206889 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.6056C>T (p.Pro2019Leu) single nucleotide variant ASXL3-related disorder [RCV003408733] Chr18:33745904 [GRCh38]
Chr18:31325868 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6123_6131dup (p.Pro2044_Leu2045insProProPro) duplication not provided [RCV003443581] Chr18:33745970..33745971 [GRCh38]
Chr18:31325934..31325935 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3194G>A (p.Arg1065Gln) single nucleotide variant not provided [RCV003421620] Chr18:33743042 [GRCh38]
Chr18:31323006 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3240G>A (p.Ala1080=) single nucleotide variant not provided [RCV003421621] Chr18:33743088 [GRCh38]
Chr18:31323052 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5215C>T (p.Arg1739Cys) single nucleotide variant not provided [RCV003421624] Chr18:33745063 [GRCh38]
Chr18:31325027 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6448C>T (p.Leu2150Phe) single nucleotide variant not provided [RCV003421627] Chr18:33746296 [GRCh38]
Chr18:31326260 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2846C>T (p.Pro949Leu) single nucleotide variant not provided [RCV003423057] Chr18:33740250 [GRCh38]
Chr18:31320214 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3571C>T (p.Leu1191Phe) single nucleotide variant not provided [RCV003423060] Chr18:33743419 [GRCh38]
Chr18:31323383 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4943A>C (p.Asn1648Thr) single nucleotide variant not provided [RCV003443860] Chr18:33744791 [GRCh38]
Chr18:31324755 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3120C>G (p.Ser1040Arg) single nucleotide variant not provided [RCV003423058] Chr18:33742968 [GRCh38]
Chr18:31322932 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4206G>T (p.Ala1402=) single nucleotide variant not provided [RCV003423061] Chr18:33744054 [GRCh38]
Chr18:31324018 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5253G>A (p.Thr1751=) single nucleotide variant not provided [RCV003423062] Chr18:33745101 [GRCh38]
Chr18:31325065 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6246A>G (p.Glu2082=) single nucleotide variant not provided [RCV003423065] Chr18:33746094 [GRCh38]
Chr18:31326058 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3382C>T (p.Arg1128Trp) single nucleotide variant ASXL3-related disorder [RCV003414581] Chr18:33743230 [GRCh38]
Chr18:31323194 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1928C>T (p.Ala643Val) single nucleotide variant not provided [RCV003413428] Chr18:33739332 [GRCh38]
Chr18:31319296 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3480T>C (p.Ile1160=) single nucleotide variant not provided [RCV003413429] Chr18:33743328 [GRCh38]
Chr18:31323292 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4080T>A (p.Ile1360=) single nucleotide variant not provided [RCV003413430] Chr18:33743928 [GRCh38]
Chr18:31323892 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4303G>A (p.Glu1435Lys) single nucleotide variant not provided [RCV003413431] Chr18:33744151 [GRCh38]
Chr18:31324115 [GRCh37]
Chr18:18q12.1		 benign
NM_030632.3(ASXL3):c.4482A>C (p.Ser1494=) single nucleotide variant not provided [RCV003413432] Chr18:33744330 [GRCh38]
Chr18:31324294 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5260C>A (p.Leu1754Ile) single nucleotide variant not provided [RCV003413433] Chr18:33745108 [GRCh38]
Chr18:31325072 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5590G>A (p.Gly1864Ser) single nucleotide variant not provided [RCV003413434] Chr18:33745438 [GRCh38]
Chr18:31325402 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6388C>T (p.Pro2130Ser) single nucleotide variant not provided [RCV003413435] Chr18:33746236 [GRCh38]
Chr18:31326200 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2398C>T (p.Gln800Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003883282] Chr18:33739802 [GRCh38]
Chr18:31319766 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1191_1192del (p.Gln397fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003883316] Chr18:33738594..33738595 [GRCh38]
Chr18:31318558..31318559 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.4806_4809dup (p.Ser1604fs) duplication not specified [RCV003488803] Chr18:33744652..33744653 [GRCh38]
Chr18:31324616..31324617 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1498G>T (p.Glu500Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003883357] Chr18:33738902 [GRCh38]
Chr18:31318866 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4336A>T (p.Arg1446Trp) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003490487] Chr18:33744184 [GRCh38]
Chr18:31324148 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1609_1612del (p.Leu537fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003581942] Chr18:33739011..33739014 [GRCh38]
Chr18:31318975..31318978 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1606_1607del (p.Gln536fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003990057] Chr18:33739010..33739011 [GRCh38]
Chr18:31318974..31318975 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4087A>G (p.Met1363Val) single nucleotide variant Inborn genetic diseases [RCV004423015] Chr18:33743935 [GRCh38]
Chr18:31323899 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4286C>T (p.Pro1429Leu) single nucleotide variant Inborn genetic diseases [RCV004423017] Chr18:33744134 [GRCh38]
Chr18:31324098 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4679G>A (p.Arg1560Gln) single nucleotide variant Inborn genetic diseases [RCV004423021] Chr18:33744527 [GRCh38]
Chr18:31324491 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6266G>A (p.Gly2089Asp) single nucleotide variant Inborn genetic diseases [RCV004423026] Chr18:33746114 [GRCh38]
Chr18:31326078 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1609_1612dup (p.Glu538fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003990131] Chr18:33739010..33739011 [GRCh38]
Chr18:31318974..31318975 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2312C>T (p.Ser771Leu) single nucleotide variant Inborn genetic diseases [RCV004423007] Chr18:33739716 [GRCh38]
Chr18:31319680 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.803A>G (p.Asn268Ser) single nucleotide variant Inborn genetic diseases [RCV004423027] Chr18:33683492 [GRCh38]
Chr18:31263456 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2047_2048insATAA (p.Ile683fs) insertion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003988915] Chr18:33739449..33739450 [GRCh38]
Chr18:31319413..31319414 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.3039+66_3997delinsAGAAGCCTAGGTGTAC indel Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003983754] Chr18:33740509..33743845 [GRCh38]
Chr18:31320473..31323809 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.3293C>T (p.Thr1098Ile) single nucleotide variant not provided [RCV004546916] Chr18:33743141 [GRCh38]
Chr18:31323105 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2431A>G (p.Ile811Val) single nucleotide variant Inborn genetic diseases [RCV004423010] Chr18:33739835 [GRCh38]
Chr18:31319799 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2535G>C (p.Glu845Asp) single nucleotide variant Inborn genetic diseases [RCV004423011] Chr18:33739939 [GRCh38]
Chr18:31319903 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4456T>C (p.Ser1486Pro) single nucleotide variant Inborn genetic diseases [RCV004423019] Chr18:33744304 [GRCh38]
Chr18:31324268 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2351A>C (p.Asp784Ala) single nucleotide variant Inborn genetic diseases [RCV004423008] Chr18:33739755 [GRCh38]
Chr18:31319719 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4205C>T (p.Ala1402Val) single nucleotide variant Inborn genetic diseases [RCV004423016] Chr18:33744053 [GRCh38]
Chr18:31324017 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4366C>G (p.Pro1456Ala) single nucleotide variant Inborn genetic diseases [RCV004423018] Chr18:33744214 [GRCh38]
Chr18:31324178 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4715C>T (p.Pro1572Leu) single nucleotide variant Inborn genetic diseases [RCV004423022] Chr18:33744563 [GRCh38]
Chr18:31324527 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2557C>G (p.Pro853Ala) single nucleotide variant not provided [RCV004547022] Chr18:33739961 [GRCh38]
Chr18:31319925 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2899G>T (p.Ala967Ser) single nucleotide variant Inborn genetic diseases [RCV004423012] Chr18:33740303 [GRCh38]
Chr18:31320267 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3653C>T (p.Ser1218Leu) single nucleotide variant Inborn genetic diseases [RCV004423013] Chr18:33743501 [GRCh38]
Chr18:31323465 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4544C>T (p.Ala1515Val) single nucleotide variant Inborn genetic diseases [RCV004423020] Chr18:33744392 [GRCh38]
Chr18:31324356 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5015T>C (p.Leu1672Pro) single nucleotide variant Inborn genetic diseases [RCV004423024] Chr18:33744863 [GRCh38]
Chr18:31324827 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6309T>C (p.Tyr2103=) single nucleotide variant ASXL3-related disorder [RCV003959451] Chr18:33746157 [GRCh38]
Chr18:31326121 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3789C>A (p.Val1263=) single nucleotide variant ASXL3-related disorder [RCV003911770] Chr18:33743637 [GRCh38]
Chr18:31323601 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2070del (p.Glu691fs) deletion ASXL3-related disorder [RCV003924331]|not provided [RCV004775534] Chr18:33739474 [GRCh38]
Chr18:31319438 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.6282T>G (p.Cys2094Trp) single nucleotide variant ASXL3-related disorder [RCV003983367] Chr18:33746130 [GRCh38]
Chr18:31326094 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1220_1226dup (p.Ser410fs) duplication Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003885428] Chr18:33738621..33738622 [GRCh38]
Chr18:31318585..31318586 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.6066T>C (p.Pro2022=) single nucleotide variant ASXL3-related disorder [RCV003964101] Chr18:33745914 [GRCh38]
Chr18:31325878 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2586A>G (p.Lys862=) single nucleotide variant ASXL3-related disorder [RCV003937258]|not provided [RCV003992814] Chr18:33739990 [GRCh38]
Chr18:31319954 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_030632.3(ASXL3):c.4717A>G (p.Thr1573Ala) single nucleotide variant ASXL3-related disorder [RCV003914061]|Inborn genetic diseases [RCV004674002] Chr18:33744565 [GRCh38]
Chr18:31324529 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.3498A>G (p.Arg1166=) single nucleotide variant ASXL3-related disorder [RCV003901411] Chr18:33743346 [GRCh38]
Chr18:31323310 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6250C>A (p.Leu2084Ile) single nucleotide variant ASXL3-related disorder [RCV003983689] Chr18:33746098 [GRCh38]
Chr18:31326062 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6610A>G (p.Ser2204Gly) single nucleotide variant ASXL3-related disorder [RCV003922167]|Inborn genetic diseases [RCV004369786] Chr18:33746458 [GRCh38]
Chr18:31326422 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3985A>G (p.Ser1329Gly) single nucleotide variant ASXL3-related disorder [RCV003904673] Chr18:33743833 [GRCh38]
Chr18:31323797 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.67C>T (p.His23Tyr) single nucleotide variant not specified [RCV004526479] Chr18:33607606 [GRCh38]
Chr18:31187570 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5649C>T (p.Ser1883=) single nucleotide variant ASXL3-related disorder [RCV003929443] Chr18:33745497 [GRCh38]
Chr18:31325461 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.6345C>T (p.Phe2115=) single nucleotide variant ASXL3-related disorder [RCV003949479] Chr18:33746193 [GRCh38]
Chr18:31326157 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1552_1555del (p.Val517_Lys518insTer) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004555071] Chr18:33738956..33738959 [GRCh38]
Chr18:31318920..31318923 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.6114A>C (p.Pro2038=) single nucleotide variant ASXL3-related disorder [RCV003899113] Chr18:33745962 [GRCh38]
Chr18:31325926 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.688T>C (p.Leu230=) single nucleotide variant not provided [RCV003887441] Chr18:33671839 [GRCh38]
Chr18:31251803 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.193G>A (p.Gly65Arg) single nucleotide variant not provided [RCV003887377] Chr18:33644949 [GRCh38]
Chr18:31224913 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.258G>A (p.Ser86=) single nucleotide variant ASXL3-related disorder [RCV003899652] Chr18:33646256 [GRCh38]
Chr18:31226220 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3273A>G (p.Gly1091=) single nucleotide variant not provided [RCV003887736] Chr18:33743121 [GRCh38]
Chr18:31323085 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3962A>T (p.Lys1321Met) single nucleotide variant Inborn genetic diseases [RCV004423014] Chr18:33743810 [GRCh38]
Chr18:31323774 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2075C>A (p.Ala692Glu) single nucleotide variant ASXL3-related disorder [RCV003902182] Chr18:33739479 [GRCh38]
Chr18:31319443 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2127del (p.Leu710fs) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003885408] Chr18:33739531 [GRCh38]
Chr18:31319495 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.246+10A>G single nucleotide variant ASXL3-related disorder [RCV003896692] Chr18:33645012 [GRCh38]
Chr18:31224976 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4724C>G (p.Pro1575Arg) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003990587] Chr18:33744572 [GRCh38]
Chr18:31324536 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4953C>T (p.Asn1651=) single nucleotide variant ASXL3-related disorder [RCV003946988] Chr18:33744801 [GRCh38]
Chr18:31324765 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1744C>T (p.Gln582Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV003991161] Chr18:33739148 [GRCh38]
Chr18:31319112 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.666T>C (p.Thr222=) single nucleotide variant not provided [RCV004585522] Chr18:33671817 [GRCh38]
Chr18:31251781 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2902G>T (p.Glu968Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004018034] Chr18:33740306 [GRCh38]
Chr18:31320270 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.911C>A (p.Thr304Asn) single nucleotide variant not provided [RCV004590572] Chr18:33731999 [GRCh38]
Chr18:31311963 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.974A>G (p.Glu325Gly) single nucleotide variant not provided [RCV004573040] Chr18:33732062 [GRCh38]
Chr18:31312026 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3457G>T (p.Glu1153Ter) single nucleotide variant Rare syndromic intellectual disability [RCV004018278] Chr18:33743305 [GRCh38]
Chr18:31323269 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.3462T>C (p.Gly1154=) single nucleotide variant not provided [RCV004598756] Chr18:33743310 [GRCh38]
Chr18:31323274 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3116C>T (p.Thr1039Ile) single nucleotide variant Inborn genetic diseases [RCV004672538] Chr18:33742964 [GRCh38]
Chr18:31322928 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6094C>T (p.Pro2032Ser) single nucleotide variant Inborn genetic diseases [RCV004674028]|not specified [RCV004586243] Chr18:33745942 [GRCh38]
Chr18:31325906 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_030632.3(ASXL3):c.1468C>T (p.Pro490Ser) single nucleotide variant Inborn genetic diseases [RCV004672577] Chr18:33738872 [GRCh38]
Chr18:31318836 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1931C>G (p.Ser644Cys) single nucleotide variant Inborn genetic diseases [RCV004672546] Chr18:33739335 [GRCh38]
Chr18:31319299 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4842G>A (p.Met1614Ile) single nucleotide variant not provided [RCV004585493] Chr18:33744690 [GRCh38]
Chr18:31324654 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1526T>G (p.Leu509Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004595294] Chr18:33738930 [GRCh38]
Chr18:31318894 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4958C>G (p.Ser1653Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004595380] Chr18:33744806 [GRCh38]
Chr18:31324770 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.6512_6517del (p.Ile2171_Glu2172del) deletion not provided [RCV004592151] Chr18:33746358..33746363 [GRCh38]
Chr18:31326322..31326327 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6218C>T (p.Thr2073Met) single nucleotide variant not provided [RCV004598829] Chr18:33746066 [GRCh38]
Chr18:31326030 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1043C>T (p.Pro348Leu) single nucleotide variant not provided [RCV004599024] Chr18:33734376 [GRCh38]
Chr18:31314340 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3834T>C (p.Asn1278=) single nucleotide variant not provided [RCV004575368] Chr18:33743682 [GRCh38]
Chr18:31323646 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3384G>A (p.Arg1128=) single nucleotide variant not provided [RCV004575263] Chr18:33743232 [GRCh38]
Chr18:31323196 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.3541G>C (p.Val1181Leu) single nucleotide variant Inborn genetic diseases [RCV004672567] Chr18:33743389 [GRCh38]
Chr18:31323353 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2033C>T (p.Ser678Leu) single nucleotide variant Inborn genetic diseases [RCV004672593] Chr18:33739437 [GRCh38]
Chr18:31319401 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.4667G>C (p.Cys1556Ser) single nucleotide variant Inborn genetic diseases [RCV004672555] Chr18:33744515 [GRCh38]
Chr18:31324479 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6315G>C (p.Gln2105His) single nucleotide variant not provided [RCV004769944] Chr18:33746163 [GRCh38]
Chr18:31326127 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6131C>T (p.Pro2044Leu) single nucleotide variant ASXL3-related disorder [RCV004728516] Chr18:33745979 [GRCh38]
Chr18:31325943 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.2397C>T (p.Ser799=) single nucleotide variant not provided [RCV004810523] Chr18:33739801 [GRCh38]
Chr18:31319765 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.5141G>T (p.Ser1714Ile) single nucleotide variant not provided [RCV004722143] Chr18:33744989 [GRCh38]
Chr18:31324953 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.539del (p.Pro180fs) deletion not provided [RCV004766166] Chr18:33670733 [GRCh38]
Chr18:31250697 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.355+1G>A single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004796994] Chr18:33646354 [GRCh38]
Chr18:31226318 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.5234C>T (p.Ala1745Val) single nucleotide variant not provided [RCV004726098] Chr18:33745082 [GRCh38]
Chr18:31325046 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1339G>A (p.Glu447Lys) single nucleotide variant not provided [RCV004772819] Chr18:33738743 [GRCh38]
Chr18:31318707 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.356-8G>C single nucleotide variant ASXL3-related disorder [RCV004749345] Chr18:33661608 [GRCh38]
Chr18:31241572 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.976+5A>G single nucleotide variant ASXL3-related disorder [RCV004748070] Chr18:33732069 [GRCh38]
Chr18:31312033 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.1706C>A (p.Thr569Asn) single nucleotide variant ASXL3-related disorder [RCV004750135] Chr18:33739110 [GRCh38]
Chr18:31319074 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2488A>G (p.Asn830Asp) single nucleotide variant not provided [RCV004772085] Chr18:33739892 [GRCh38]
Chr18:31319856 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5608C>T (p.His1870Tyr) single nucleotide variant ASXL3-related disorder [RCV004730264] Chr18:33745456 [GRCh38]
Chr18:31325420 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3170T>C (p.Ile1057Thr) single nucleotide variant not provided [RCV004772113] Chr18:33743018 [GRCh38]
Chr18:31322982 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1597G>C (p.Val533Leu) single nucleotide variant not provided [RCV004761411]   uncertain significance
NM_030632.3(ASXL3):c.4365_4389del (p.Pro1456_Pro1457insTer) deletion Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004759507]   pathogenic
NM_030632.3(ASXL3):c.2310G>C (p.Lys770Asn) single nucleotide variant not provided [RCV004761441]   uncertain significance
NM_030632.3(ASXL3):c.6062C>T (p.Pro2021Leu) single nucleotide variant not provided [RCV004721746] Chr18:33745910 [GRCh38]
Chr18:31325874 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.169A>G (p.Met57Val) single nucleotide variant not provided [RCV004721752] Chr18:33644925 [GRCh38]
Chr18:31224889 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.2573C>G (p.Thr858Ser) single nucleotide variant not provided [RCV004762829]   uncertain significance
NM_030632.3(ASXL3):c.4871_4874del (p.His1624fs) microsatellite not provided [RCV004729363] Chr18:33744715..33744718 [GRCh38]
Chr18:31324679..31324682 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4915C>G (p.Pro1639Ala) single nucleotide variant not provided [RCV004770843] Chr18:33744763 [GRCh38]
Chr18:31324727 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6355_6356del (p.Ser2119fs) deletion not provided [RCV004795014] Chr18:33746203..33746204 [GRCh38]
Chr18:31326167..31326168 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6137C>G (p.Pro2046Arg) single nucleotide variant not provided [RCV004724025] Chr18:33745985 [GRCh38]
Chr18:31325949 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1366dup (p.Glu456fs) duplication not provided [RCV004772636] Chr18:33738769..33738770 [GRCh38]
Chr18:31318733..31318734 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.6722G>A (p.Cys2241Tyr) single nucleotide variant not provided [RCV004778475] Chr18:33746570 [GRCh38]
Chr18:31326534 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.5563A>G (p.Lys1855Glu) single nucleotide variant not provided [RCV004760169]   uncertain significance
NM_030632.3(ASXL3):c.2339C>A (p.Ser780Tyr) single nucleotide variant not provided [RCV004763953]   uncertain significance
NM_030632.3(ASXL3):c.3155G>C (p.Arg1052Thr) single nucleotide variant not provided [RCV004767893] Chr18:33743003 [GRCh38]
Chr18:31322967 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6221G>C (p.Gly2074Ala) single nucleotide variant ASXL3-related disorder [RCV004748075] Chr18:33746069 [GRCh38]
Chr18:31326033 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.100T>A (p.Leu34Met) single nucleotide variant not provided [RCV004761199]   uncertain significance
NM_030632.3(ASXL3):c.4609T>A (p.Ser1537Thr) single nucleotide variant not provided [RCV004773418] Chr18:33744457 [GRCh38]
Chr18:31324421 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.6373T>C (p.Tyr2125His) single nucleotide variant not provided [RCV004761382]   uncertain significance
NM_030632.3(ASXL3):c.6197G>T (p.Arg2066Ile) single nucleotide variant not provided [RCV004773716] Chr18:33746045 [GRCh38]
Chr18:31326009 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.35G>C (p.Trp12Ser) single nucleotide variant not provided [RCV004769752] Chr18:33578666 [GRCh38]
Chr18:31158630 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1626dup (p.Leu543fs) duplication ASXL3-related disorder [RCV004727925] Chr18:33739029..33739030 [GRCh38]
Chr18:31318993..31318994 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.1102G>T (p.Glu368Ter) single nucleotide variant Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome [RCV004767632] Chr18:33738506 [GRCh38]
Chr18:31318470 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_030632.3(ASXL3):c.3007C>T (p.Pro1003Ser) single nucleotide variant not provided [RCV004776075] Chr18:33740411 [GRCh38]
Chr18:31320375 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.964C>T (p.Arg322Ter) single nucleotide variant not provided [RCV004729362] Chr18:33732052 [GRCh38]
Chr18:31312016 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.1980C>G (p.Asp660Glu) single nucleotide variant not provided [RCV004761464]   uncertain significance
NM_030632.3(ASXL3):c.542G>A (p.Arg181His) single nucleotide variant not provided [RCV004720126] Chr18:33670737 [GRCh38]
Chr18:31250701 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_030632.3(ASXL3):c.3178dup (p.Arg1060fs) duplication not provided [RCV004720135] Chr18:33743023..33743024 [GRCh38]
Chr18:31322987..31322988 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_030632.3(ASXL3):c.4266A>G (p.Thr1422=) single nucleotide variant ASXL3-related disorder [RCV004750044] Chr18:33744114 [GRCh38]
Chr18:31324078 [GRCh37]
Chr18:18q12.1		 likely benign
NM_030632.3(ASXL3):c.4610C>A (p.Ser1537Tyr) single nucleotide variant not provided [RCV004761755]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4512
Count of miRNA genes:1328
Interacting mature miRNAs:1748
Transcripts:ENST00000269197, ENST00000585426, ENST00000586327, ENST00000586596, ENST00000586948, ENST00000588038, ENST00000588741, ENST00000590189, ENST00000590225, ENST00000590973, ENST00000592288, ENST00000592349, ENST00000592541, ENST00000593195, ENST00000593235
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407059010GWAS707986_Hpulmonary function measurement, vital capacity QTL GWAS707986 (human)0.000007pulmonary function measurement, vital capacity183368677733686778Human
597148821GWAS1244895_Hbody mass index QTL GWAS1244895 (human)3e-12body mass indexbody mass index (BMI) (CMO:0000105)183367131233671313Human
406943942GWAS592918_Hneurotic disorder QTL GWAS592918 (human)2e-08neurotic disorder183370616533706166Human
596987908GWAS1107427_Hbody mass index QTL GWAS1107427 (human)1e-11body mass indexbody mass index (BMI) (CMO:0000105)183364381233643813Human
597031692GWAS1127766_Hsugar consumption measurement QTL GWAS1127766 (human)0.000009sugar consumption measurementsucrose drink intake volume (CMO:0002200)183374875633748757Human
597288835GWAS1384909_Hbody mass index QTL GWAS1384909 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)183367131233671313Human
597459463GWAS1555537_Hdiastolic blood pressure QTL GWAS1555537 (human)1e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)183358146233581463Human
597615877GWAS1672737_Hsystolic blood pressure QTL GWAS1672737 (human)4e-11systolic blood pressuresystolic blood pressure (CMO:0000004)183358240933582410Human
597033869GWAS1129943_Hsystolic blood pressure QTL GWAS1129943 (human)6e-12systolic blood pressuresystolic blood pressure (CMO:0000004)183358901833589019Human
597320065GWAS1416139_Halcohol dependence QTL GWAS1416139 (human)0.000004alcohol dependence183359518433595185Human
597344263GWAS1440337_Hcolor vision disorder QTL GWAS1440337 (human)4e-08color vision disorder183365508133655082Human
597048584GWAS1144658_Hovarian carcinoma QTL GWAS1144658 (human)0.000002ovarian carcinoma183362500433625005Human
597463938GWAS1560012_Hcommon carotid intimal medial thickness QTL GWAS1560012 (human)1e-09common carotid intimal medial thickness183366866433668665Human
597289222GWAS1385296_Hbody weight QTL GWAS1385296 (human)1e-09body mass (VT:0001259)body weight (CMO:0000012)183367131233671313Human
597085236GWAS1181310_Hbody mass index QTL GWAS1181310 (human)5e-11body mass indexbody mass index (BMI) (CMO:0000105)183364381233643813Human
597274043GWAS1370117_Hinsomnia QTL GWAS1370117 (human)3e-09insomnia183364609433646095Human
597274042GWAS1370116_Hinsomnia QTL GWAS1370116 (human)2e-09insomnia183360794633607947Human
597096501GWAS1192575_Hbody height QTL GWAS1192575 (human)3e-11body height (VT:0001253)body height (CMO:0000106)183366835933668360Human
597274045GWAS1370119_Hinsomnia QTL GWAS1370119 (human)9e-11insomnia183371353533713536Human
597274044GWAS1370118_Hinsomnia QTL GWAS1370118 (human)1e-13insomnia183370711133707112Human
597211326GWAS1307400_Hself reported educational attainment QTL GWAS1307400 (human)2e-08self reported educational attainment183361256533612566Human
597177150GWAS1273224_Hneuroticism measurement QTL GWAS1273224 (human)3e-10neuroticism measurement183370296933702970Human
597329469GWAS1425543_Hneuroticism measurement, cognitive function measurement QTL GWAS1425543 (human)3e-11neuroticism measurement, cognitive function measurement183364575433645755Human
597274046GWAS1370120_Hinsomnia QTL GWAS1370120 (human)3e-16insomnia183373400133734002Human
597209009GWAS1305083_Hwellbeing measurement QTL GWAS1305083 (human)1e-10wellness/fitness trait (VT:1000152)183371429733714298Human
597278505GWAS1374579_Hinsomnia QTL GWAS1374579 (human)4e-09insomnia183369947033699471Human
597278504GWAS1374578_Hinsomnia QTL GWAS1374578 (human)2e-09insomnia183366866433668665Human
597193769GWAS1289843_Hbody mass index QTL GWAS1289843 (human)7e-15body mass indexbody mass index (BMI) (CMO:0000105)183367131233671313Human
597278507GWAS1374581_Hinsomnia QTL GWAS1374581 (human)3e-10insomnia183370987733709878Human
597278506GWAS1374580_Hinsomnia QTL GWAS1374580 (human)4e-10insomnia183370448833704489Human
597273132GWAS1369206_Heducational attainment QTL GWAS1369206 (human)1e-16educational attainment183363224533632246Human
597278508GWAS1374582_Hinsomnia QTL GWAS1374582 (human)7e-14insomnia183373400133734002Human
597326892GWAS1422966_Hcolor vision disorder QTL GWAS1422966 (human)0.000004color vision disorder183371176533711766Human
597056033GWAS1152107_Hmetabolic syndrome QTL GWAS1152107 (human)1e-13metabolic syndrome183367131233671313Human
597293350GWAS1389424_Hbody mass index QTL GWAS1389424 (human)1e-11body mass indexbody mass index (BMI) (CMO:0000105)183364381233643813Human
597349083GWAS1445157_Hsystolic blood pressure QTL GWAS1445157 (human)9e-09systolic blood pressuresystolic blood pressure (CMO:0000004)183358146233581463Human
596962135GWAS1081654_Hmetabolic syndrome QTL GWAS1081654 (human)1e-13metabolic syndrome183367131233671313Human
597208541GWAS1304615_Hmathematical ability QTL GWAS1304615 (human)1e-09mathematical ability183363498633634987Human
407053062GWAS702038_Hinsomnia measurement QTL GWAS702038 (human)2e-09sleep behavior trait (VT:0001501)183373400133734002Human
597266911GWAS1362985_Hdiastolic blood pressure QTL GWAS1362985 (human)8e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)183358146233581463Human
597200082GWAS1296156_Hdiastolic blood pressure QTL GWAS1296156 (human)1e-12diastolic blood pressurediastolic blood pressure (CMO:0000005)183358146233581463Human
597230290GWAS1326364_Hbody mass index QTL GWAS1326364 (human)1e-15body mass indexbody mass index (BMI) (CMO:0000105)183367112433671125Human
407147912GWAS796888_Hantibody measurement QTL GWAS796888 (human)0.000008antibody measurementantibody measurement (CMO:0001861)183366628033666281Human
597140697GWAS1236771_Hheart failure QTL GWAS1236771 (human)3e-10heart failure183367595433675955Human
597030606GWAS1126680_Hbody mass index QTL GWAS1126680 (human)8e-13body mass indexbody mass index (BMI) (CMO:0000105)183367131233671313Human
597110345GWAS1206419_Hmathematical ability QTL GWAS1206419 (human)1e-12mathematical ability183362869633628697Human
597227900GWAS1323974_Hself reported educational attainment QTL GWAS1323974 (human)2e-11self reported educational attainment183363224533632246Human
407231008GWAS879984_Hasthma, response to diisocyanate QTL GWAS879984 (human)0.000005asthma, response to diisocyanate183374203033742031Human
597026815GWAS1122889_Hbody mass index QTL GWAS1122889 (human)8e-12body mass indexbody mass index (BMI) (CMO:0000105)183366835933668360Human
597147771GWAS1243845_Hbody mass index QTL GWAS1243845 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)183367112433671125Human
597148666GWAS1244740_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1244740 (human)4e-08low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)183366663033666631Human
597137657GWAS1233731_Hbody height QTL GWAS1233731 (human)2e-11body height (VT:0001253)body height (CMO:0000106)183369692033696921Human
597050982GWAS1147056_HParkinson disease QTL GWAS1147056 (human)2e-08Parkinson disease183372435433724355Human
597110881GWAS1206955_Hdiastolic blood pressure QTL GWAS1206955 (human)2e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)183358146233581463Human
597145450GWAS1241524_Hbody mass index QTL GWAS1241524 (human)0.000003body mass indexbody mass index (BMI) (CMO:0000105)183367112433671125Human

Markers in Region
D18S456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371831,162,584 - 31,162,820UniSTSGRCh37
GRCh371831,162,645 - 31,162,777UniSTSGRCh37
Build 361829,416,643 - 29,416,775RGDNCBI36
Celera1827,970,592 - 27,970,724RGD
Celera1827,970,531 - 27,970,767UniSTS
Cytogenetic Map18q11UniSTS
HuRef1828,022,402 - 28,022,536UniSTS
HuRef1828,022,341 - 28,022,579UniSTS
Marshfield Genetic Map1861.73RGD
Genethon Genetic Map1861.2UniSTS
TNG Radiation Hybrid Map1811237.0UniSTS
deCODE Assembly Map1855.42UniSTS
Stanford-G3 RH Map181154.0UniSTS
GeneMap99-GB4 RH Map18261.69UniSTS
Whitehead-RH Map18265.0UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18394.4UniSTS
GeneMap99-G3 RH Map181154.0UniSTS
RH118571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371831,213,981 - 31,214,259UniSTSGRCh37
Build 361829,467,979 - 29,468,257RGDNCBI36
Celera1828,021,928 - 28,022,206RGD
Cytogenetic Map18q11UniSTS
HuRef1828,073,740 - 28,074,018UniSTS
TNG Radiation Hybrid Map1811273.0UniSTS
TNG Radiation Hybrid Map1811270.0UniSTS
D18S830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371831,305,028 - 31,305,191UniSTSGRCh37
Build 361829,559,026 - 29,559,189RGDNCBI36
Celera1828,112,977 - 28,113,140RGD
Cytogenetic Map18q11UniSTS
HuRef1828,164,657 - 28,164,820UniSTS
Stanford-G3 RH Map181169.0UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18396.1UniSTS
D18S456  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q11UniSTS
Marshfield Genetic Map1861.73UniSTS
Genethon Genetic Map1861.2UniSTS
deCODE Assembly Map1855.42UniSTS
GeneMap99-GB4 RH Map18261.69UniSTS
Whitehead-RH Map18265.0UniSTS
Whitehead-YAC Contig Map18 UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2309 2696 2233 4818 1625 2107 6 546 1009 385 2167 6041 5508 17 3678 1 786 1620 1453 166 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_055244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA447511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB051500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE145544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB061724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB090653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000269197   ⟹   ENSP00000269197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,578,219 - 33,751,195 (+)Ensembl
Ensembl Acc Id: ENST00000585426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,605,594 - 33,649,617 (+)Ensembl
Ensembl Acc Id: ENST00000586327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,605,586 - 33,670,684 (+)Ensembl
Ensembl Acc Id: ENST00000586948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,578,882 - 33,627,043 (+)Ensembl
Ensembl Acc Id: ENST00000588038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,605,587 - 33,627,002 (+)Ensembl
Ensembl Acc Id: ENST00000590189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,578,628 - 33,683,645 (+)Ensembl
Ensembl Acc Id: ENST00000590225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,605,608 - 33,646,349 (+)Ensembl
Ensembl Acc Id: ENST00000590973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,605,641 - 33,661,658 (+)Ensembl
Ensembl Acc Id: ENST00000592288   ⟹   ENSP00000465053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,578,607 - 33,743,561 (+)Ensembl
Ensembl Acc Id: ENST00000592349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,578,771 - 33,626,928 (+)Ensembl
Ensembl Acc Id: ENST00000592541   ⟹   ENSP00000466655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,578,621 - 33,743,581 (+)Ensembl
Ensembl Acc Id: ENST00000593195   ⟹   ENSP00000466073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,578,632 - 33,743,604 (+)Ensembl
Ensembl Acc Id: ENST00000593235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,605,626 - 33,670,718 (+)Ensembl
Ensembl Acc Id: ENST00000642541   ⟹   ENSP00000493665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,578,913 - 33,743,589 (+)Ensembl
Ensembl Acc Id: ENST00000647014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,605,632 - 33,614,889 (+)Ensembl
Ensembl Acc Id: ENST00000681521   ⟹   ENSP00000506037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,578,219 - 33,751,195 (+)Ensembl
Ensembl Acc Id: ENST00000696964   ⟹   ENSP00000513003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1833,578,219 - 33,751,195 (+)Ensembl
RefSeq Acc Id: NM_030632   ⟹   NP_085135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381833,578,219 - 33,751,195 (+)NCBI
GRCh371831,158,541 - 31,331,159 (+)NCBI
Build 361829,412,539 - 29,581,397 (+)NCBI Archive
Celera1827,966,488 - 28,135,348 (+)RGD
HuRef1828,018,302 - 28,187,028 (+)ENTREZGENE
CHM1_11831,085,980 - 31,258,591 (+)NCBI
T2T-CHM13v2.01833,769,917 - 33,942,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005258356   ⟹   XP_005258413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381833,578,219 - 33,751,195 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526205   ⟹   XP_011524507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381833,593,283 - 33,751,195 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526206   ⟹   XP_011524508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381833,605,587 - 33,751,195 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526209   ⟹   XP_011524511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381833,607,592 - 33,751,195 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526212   ⟹   XP_011524514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381833,607,592 - 33,751,195 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026012   ⟹   XP_016881501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381833,602,025 - 33,751,195 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451269   ⟹   XP_024307037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381833,607,590 - 33,751,195 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054319224   ⟹   XP_054175199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01833,769,917 - 33,942,920 (+)NCBI
RefSeq Acc Id: XM_054319225   ⟹   XP_054175200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01833,771,969 - 33,942,920 (+)NCBI
RefSeq Acc Id: XM_054319226   ⟹   XP_054175201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01833,793,722 - 33,942,920 (+)NCBI
RefSeq Acc Id: XM_054319227   ⟹   XP_054175202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01833,793,722 - 33,942,920 (+)NCBI
RefSeq Acc Id: XM_054319228   ⟹   XP_054175203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01833,799,289 - 33,942,920 (+)NCBI
RefSeq Acc Id: XM_054319229   ⟹   XP_054175204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01833,799,287 - 33,942,920 (+)NCBI
RefSeq Acc Id: XM_054319230   ⟹   XP_054175205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01833,799,289 - 33,942,920 (+)NCBI
RefSeq Acc Id: NP_085135   ⟸   NM_030632
- UniProtKB: Q9C0F0 (UniProtKB/Swiss-Prot),   Q6ZMX6 (UniProtKB/Swiss-Prot),   Q96MU3 (UniProtKB/Swiss-Prot),   Q9UFC5 (UniProtKB/Swiss-Prot),   A0A7P0TAE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005258413   ⟸   XM_005258356
- Peptide Label: isoform X1
- UniProtKB: A0A8V8TKV8 (UniProtKB/TrEMBL),   A0A7P0TAE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524511   ⟸   XM_011526209
- Peptide Label: isoform X4
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524507   ⟸   XM_011526205
- Peptide Label: isoform X2
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524508   ⟸   XM_011526206
- Peptide Label: isoform X3
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524514   ⟸   XM_011526212
- Peptide Label: isoform X4
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881501   ⟸   XM_017026012
- Peptide Label: isoform X3
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307037   ⟸   XM_024451269
- Peptide Label: isoform X4
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000269197   ⟸   ENST00000269197
Ensembl Acc Id: ENSP00000493665   ⟸   ENST00000642541
Ensembl Acc Id: ENSP00000466655   ⟸   ENST00000592541
Ensembl Acc Id: ENSP00000465053   ⟸   ENST00000592288
Ensembl Acc Id: ENSP00000466073   ⟸   ENST00000593195
Ensembl Acc Id: ENSP00000506037   ⟸   ENST00000681521
Ensembl Acc Id: ENSP00000513003   ⟸   ENST00000696964
RefSeq Acc Id: XP_054175199   ⟸   XM_054319224
- Peptide Label: isoform X1
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054175200   ⟸   XM_054319225
- Peptide Label: isoform X2
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054175201   ⟸   XM_054319226
- Peptide Label: isoform X3
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054175202   ⟸   XM_054319227
- Peptide Label: isoform X3
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054175204   ⟸   XM_054319229
- Peptide Label: isoform X4
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054175203   ⟸   XM_054319228
- Peptide Label: isoform X4
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054175205   ⟸   XM_054319230
- Peptide Label: isoform X4
- UniProtKB: A0A7P0TAE5 (UniProtKB/TrEMBL)
Protein Domains
DEUBAD   HTH HARE-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9C0F0-F1-model_v2 AlphaFold Q9C0F0 1-2248 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29357 AgrOrtholog
COSMIC ASXL3 COSMIC
Ensembl Genes ENSG00000141431 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000269197 ENTREZGENE
  ENST00000269197.12 UniProtKB/Swiss-Prot
  ENST00000592288.6 UniProtKB/TrEMBL
  ENST00000592541.6 UniProtKB/TrEMBL
  ENST00000593195.6 UniProtKB/TrEMBL
  ENST00000642541.1 UniProtKB/TrEMBL
  ENST00000681521.1 UniProtKB/TrEMBL
  ENST00000696964.1 UniProtKB/TrEMBL
GTEx ENSG00000141431 GTEx
HGNC ID HGNC:29357 ENTREZGENE
Human Proteome Map ASXL3 Human Proteome Map
InterPro ASX-like_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASX/ASX-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASXH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEUBAD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HB1/Asxl_HTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80816 UniProtKB/Swiss-Prot
NCBI Gene 80816 ENTREZGENE
OMIM 615115 OMIM
PANTHER PTHR13578 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13578:SF18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ASXH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HARE-HTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162377010 PharmGKB
PROSITE DEUBAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HTH_HARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y461_HUMAN UniProtKB/TrEMBL
  A0A7P0TAE5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TKV8 ENTREZGENE, UniProtKB/TrEMBL
  ASXL3_HUMAN UniProtKB/Swiss-Prot
  K7EJ76_HUMAN UniProtKB/TrEMBL
  K7ELG8_HUMAN UniProtKB/TrEMBL
  K7EMU6_HUMAN UniProtKB/TrEMBL
  Q6ZMX6 ENTREZGENE
  Q96MU3 ENTREZGENE
  Q9C0F0 ENTREZGENE
  Q9UFC5 ENTREZGENE
UniProt Secondary Q6ZMX6 UniProtKB/Swiss-Prot
  Q96MU3 UniProtKB/Swiss-Prot
  Q9UFC5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-15 ASXL3  ASXL transcriptional regulator 3    additional sex combs like 3, transcriptional regulator  Symbol and/or name change 5135510 APPROVED
2015-12-01 ASXL3  additional sex combs like 3, transcriptional regulator    additional sex combs like transcriptional regulator 3  Symbol and/or name change 5135510 APPROVED
2014-06-24 ASXL3  additional sex combs like transcriptional regulator 3    additional sex combs like 3 (Drosophila)  Symbol and/or name change 5135510 APPROVED