NRXN1 (neurexin 1) - Rat Genome Database

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Gene: NRXN1 (neurexin 1) Homo sapiens
Analyze
Symbol: NRXN1
Name: neurexin 1
RGD ID: 734185
HGNC Page HGNC:8008
Description: Enables type 1 fibroblast growth factor receptor binding activity. Involved in several processes, including positive regulation of signal transduction; regulation of gene expression; and vocal learning. Located in several cellular components, including cell surface; nucleolus; and protein complex involved in cell-cell adhesion. Implicated in Pitt-Hopkins-like syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp313P2036; FLJ35941; Hs.22998; KIAA0578; neurexin I; neurexin I-alpha; neurexin I-beta; neurexin-1; neurexin-1-alpha; neurexin-1-beta; PTHSL2; SCZD17
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
GRCh38249,918,503 - 51,032,132 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl249,918,503 - 51,225,575 (-)EnsemblGRCh38hg38GRCh38
GRCh37250,145,641 - 51,259,270 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36250,000,992 - 51,113,178 (-)NCBINCBI36Build 36hg18NCBI36
Build 34250,059,138 - 50,486,545NCBI
Celera249,985,850 - 51,099,841 (-)NCBICelera
Cytogenetic Map2p16.3NCBI
HuRef249,879,094 - 50,994,141 (-)NCBIHuRef
CHM1_1250,076,199 - 51,190,490 (-)NCBICHM1_1
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
aldicarb  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
Butylparaben  (ISO)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
Cuprizon  (ISO)
DDE  (ISO)
DDT  (ISO)
deguelin  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenpyroximate  (EXP)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
glutathione  (EXP)
glyphosate  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
inulin  (ISO)
L-ascorbic acid  (ISO)
lead tetraacetate  (ISO)
lead(0)  (EXP)
linuron  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (EXP)
nickel atom  (EXP)
orphenadrine  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
pentetrazol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
Ptaquiloside  (ISO)
pyrimidifen  (EXP)
rotenone  (EXP)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sulfadimethoxine  (ISO)
tebufenpyrad  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (EXP)
thifluzamide  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult behavior  (IEA,IMP,ISO)
angiogenesis  (IEA,ISS)
axon guidance  (TAS)
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  (ISS,NAS)
cell adhesion  (IEA)
cellular response to calcium ion  (ISS)
cerebellar granule cell differentiation  (ISS)
chemical synaptic transmission  (IEA,ISO,ISS)
circadian rhythm  (ISO)
establishment of protein localization  (ISS)
filopodium assembly  (ISO)
gamma-aminobutyric acid receptor clustering  (ISS)
gephyrin clustering involved in postsynaptic density assembly  (IEA,ISS)
guanylate kinase-associated protein clustering  (ISS)
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  (ISS)
learning  (IEA,IMP,ISO)
negative regulation of filopodium assembly  (ISS)
negative regulation of gene expression  (IDA)
neuroligin clustering involved in postsynaptic membrane assembly  (IEA,ISS)
neuromuscular process controlling balance  (IEA,IMP,ISS)
neuron cell-cell adhesion  (ISS,NAS,TAS)
neuron maturation  (ISO)
neuron projection development  (IGI)
neuron projection morphogenesis  (NAS)
neuronal signal transduction  (TAS)
neurotransmitter secretion  (IEA,ISO,ISS)
NMDA glutamate receptor clustering  (ISS)
positive regulation of ERK1 and ERK2 cascade  (IDA)
positive regulation of excitatory postsynaptic potential  (IEA,ISS)
positive regulation of fibroblast growth factor receptor signaling pathway  (IDA)
positive regulation of gene expression  (IDA)
positive regulation of neuromuscular synaptic transmission  (NAS)
positive regulation of peptidyl-serine phosphorylation  (IDA)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IDA)
positive regulation of presynaptic active zone assembly  (TAS)
positive regulation of protein kinase A signaling  (IDA)
positive regulation of protein localization to plasma membrane  (ISS)
positive regulation of synapse assembly  (IEA,ISO,ISS,TAS)
positive regulation of synapse maturation  (IEA,ISO,ISS)
positive regulation of synaptic transmission, GABAergic  (NAS)
positive regulation of synaptic transmission, glutamatergic  (IEA,ISS,NAS)
postsynaptic density protein 95 clustering  (IEA,ISS)
postsynaptic membrane assembly  (IEA,ISS)
prepulse inhibition  (IEA)
presynapse assembly  (IEA)
presynaptic membrane assembly  (ISS)
protein localization to synapse  (ISS)
protein-containing complex assembly involved in synapse maturation  (ISS)
receptor localization to synapse  (ISS)
regulation of grooming behavior  (IEA,ISO)
regulation of postsynaptic density assembly  (IEA)
regulation of postsynaptic specialization assembly  (IEA)
regulation of presynapse assembly  (IEA)
regulation of synaptic vesicle cycle  (IEA)
regulation of trans-synaptic signaling by endocannabinoid, modulating synaptic transmission  (IEA)
signal transduction  (ISS)
social behavior  (IMP)
synapse assembly  (IEA,ISO,ISS)
synaptic membrane adhesion  (IEA)
synaptic vesicle clustering  (ISS)
trans-synaptic signaling, modulating synaptic transmission  (ISO)
vesicle docking involved in exocytosis  (ISO)
vocal learning  (IMP)
vocalization behavior  (IMP)

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Phenotypic characterization of nonsocial behavioral impairment in neurexin 1a knockout rats. Esclassan F, etal., Behav Neurosci. 2015 Feb;129(1):74-85. doi: 10.1037/bne0000024. Epub 2014 Nov 24.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self-associating activity. Koroll M, etal., J Biol Chem 2001 Apr 6;276(14):10646-54.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Gene expression analysis of spontaneously hypertensive rat cerebral cortex following transient focal cerebral ischemia. Raghavendra Rao VL, etal., J Neurochem 2002 Dec;83(5):1072-86.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1621094   PMID:7695896   PMID:7736595   PMID:8576240   PMID:8699246   PMID:8786425   PMID:8901523   PMID:9430716   PMID:9448462   PMID:9628581   PMID:9707552   PMID:9856994  
PMID:9921901   PMID:11036064   PMID:11171101   PMID:11243866   PMID:11944992   PMID:12036300   PMID:12168954   PMID:12421765   PMID:12477932   PMID:12796785   PMID:12827191   PMID:14522992  
PMID:14702039   PMID:15620359   PMID:15684424   PMID:15797875   PMID:15815621   PMID:16344560   PMID:17034946   PMID:17158188   PMID:17989066   PMID:18057082   PMID:18084303   PMID:18093522  
PMID:18179900   PMID:18270208   PMID:18490107   PMID:18812509   PMID:18923512   PMID:18940311   PMID:18945720   PMID:19086053   PMID:19197363   PMID:19460752   PMID:19557195   PMID:19658047  
PMID:19675094   PMID:19734545   PMID:19736351   PMID:19822762   PMID:19880096   PMID:19896112   PMID:20113834   PMID:20157312   PMID:20162629   PMID:20201926   PMID:20347009   PMID:20379614  
PMID:20414139   PMID:20421335   PMID:20468056   PMID:20543817   PMID:20691247   PMID:20834067   PMID:20860064   PMID:20967226   PMID:21288692   PMID:21424692   PMID:21477380   PMID:21559374  
PMID:21687627   PMID:21827697   PMID:21890328   PMID:21964664   PMID:22235116   PMID:22337556   PMID:22405623   PMID:22504536   PMID:22617343   PMID:22645275   PMID:22750515   PMID:22832527  
PMID:22832960   PMID:22948383   PMID:23264101   PMID:23294455   PMID:23319000   PMID:23472757   PMID:23495017   PMID:23533028   PMID:23533600   PMID:23536886   PMID:23638761   PMID:23772147  
PMID:23942779   PMID:24064682   PMID:24440292   PMID:24633560   PMID:24680031   PMID:24768552   PMID:24832020   PMID:25201988   PMID:25242362   PMID:25367360   PMID:25399301   PMID:25450229  
PMID:25486015   PMID:25710691   PMID:25737549   PMID:25943950   PMID:26078884   PMID:26216298   PMID:26279266   PMID:26410934   PMID:26590955   PMID:26785044   PMID:26899349   PMID:27173435  
PMID:27195815   PMID:27355804   PMID:27708434   PMID:27869829   PMID:28013231   PMID:28120489   PMID:28343708   PMID:28641109   PMID:28641112   PMID:28669545   PMID:29045040   PMID:29426960  
PMID:29622757   PMID:30021884   PMID:30190612   PMID:30193986   PMID:30262834   PMID:30358070   PMID:30709877   PMID:30873608   PMID:30988517   PMID:31302032   PMID:31530798   PMID:31784728  
PMID:31932357   PMID:32942984   PMID:33476483   PMID:33541421   PMID:33756113   PMID:34035170   PMID:34168285   PMID:34403115   PMID:34487988   PMID:34525970   PMID:34529206   PMID:34687402  
PMID:35101781   PMID:35627176   PMID:37355690  


Genomics

Comparative Map Data
NRXN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38249,918,503 - 51,032,132 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl249,918,503 - 51,225,575 (-)EnsemblGRCh38hg38GRCh38
GRCh37250,145,641 - 51,259,270 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36250,000,992 - 51,113,178 (-)NCBINCBI36Build 36hg18NCBI36
Build 34250,059,138 - 50,486,545NCBI
Celera249,985,850 - 51,099,841 (-)NCBICelera
Cytogenetic Map2p16.3NCBI
HuRef249,879,094 - 50,994,141 (-)NCBIHuRef
CHM1_1250,076,199 - 51,190,490 (-)NCBICHM1_1
T2T-CHM13v2.0249,914,520 - 51,028,290 (-)NCBIT2T-CHM13v2.0
Nrxn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391790,341,072 - 91,400,587 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1790,341,059 - 91,400,499 (-)EnsemblGRCm39 Ensembl
GRCm381790,033,644 - 91,093,159 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1790,033,631 - 91,093,071 (-)EnsemblGRCm38mm10GRCm38
MGSCv371790,432,984 - 91,492,142 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361790,433,296 - 91,492,142 (-)NCBIMGSCv36mm8
Celera1794,417,402 - 95,489,954 (-)NCBICelera
Cytogenetic Map17E5NCBI
cM Map1759.73NCBI
Nrxn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr868,931,360 - 10,077,381 (+)NCBIGRCr8
mRatBN7.263,177,788 - 4,323,848 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl63,177,897 - 4,322,710 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx63,476,659 - 4,613,908 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.063,786,080 - 4,923,338 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.063,310,521 - 4,447,776 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0613,886,757 - 15,191,660 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl613,886,740 - 15,191,660 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0624,704,937 - 25,145,167 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0623,843,153 - 24,482,073 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4614,050,929 - 15,354,069 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1615,245,705 - 15,354,069 (-)NCBI
Celera62,975,004 - 4,118,378 (+)NCBICelera
Cytogenetic Map6q11-q12NCBI
Nrxn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544116,234,070 - 17,178,005 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544116,230,977 - 17,178,003 (-)NCBIChiLan1.0ChiLan1.0
NRXN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21275,325,549 - 76,440,534 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A75,329,515 - 76,444,501 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A50,063,398 - 51,178,659 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A50,981,997 - 52,095,538 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A50,985,067 - 52,091,277 (-)Ensemblpanpan1.1panPan2
NRXN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11051,555,660 - 52,666,774 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1051,558,452 - 52,667,569 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1051,401,804 - 52,511,290 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01052,431,369 - 53,560,787 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1052,431,572 - 53,564,557 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11052,126,286 - 53,234,452 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01052,413,764 - 53,524,238 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01052,609,896 - 53,719,985 (-)NCBIUU_Cfam_GSD_1.0
Nrxn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629230,455,821 - 31,526,486 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365081,889,640 - 2,954,039 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NRXN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl389,803,519 - 90,382,034 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1389,799,426 - 90,914,205 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2395,543,189 - 96,298,412 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NRXN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11456,051,849 - 57,202,334 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604554,638,899 - 55,766,868 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nrxn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473831,133,346 - 32,273,565 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473831,134,551 - 32,273,596 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NRXN1
1959 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001330078.2(NRXN1):c.2817T>C (p.Asp939=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509638] Chr2:50497395 [GRCh38]
Chr2:50724533 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.753C>A (p.Arg251=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000548792] Chr2:51027521 [GRCh38]
Chr2:51254659 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.105C>T (p.Gly35=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000529246] Chr2:51028169 [GRCh38]
Chr2:51255307 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3202G>A (p.Asp1068Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619689]|not provided [RCV000522309] Chr2:50472340 [GRCh38]
Chr2:50699478 [GRCh37]
Chr2:2p16.3
uncertain significance
NC_000002.12:g.(?_49921924)_(49943811_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000545080] Chr2:49921924..49943811 [GRCh38]
Chr2:50149062..50170949 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1427T>G (p.Val476Gly) single nucleotide variant not provided [RCV000519654] Chr2:50552919 [GRCh38]
Chr2:50780057 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3378T>C (p.Tyr1126=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000547148] Chr2:50236957 [GRCh38]
Chr2:50464095 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.779A>C (p.Asn260Thr) single nucleotide variant Inborn genetic diseases [RCV003159695]|not provided [RCV000523495] Chr2:50925949 [GRCh38]
Chr2:51153087 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.28G>A (p.Gly10Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509562]|not provided [RCV000519914] Chr2:51028246 [GRCh38]
Chr2:51255384 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4291_4294dup (p.Gly1432fs) duplication Schizophrenia 17 [RCV002508128] Chr2:49922173..49922174 [GRCh38]
Chr2:50149311..50149312 [GRCh37]
Chr2:2p16.3
risk factor
NC_000002.11:g.(?_50214717_50293739_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000022999] Chr2:50214717..50293739 [GRCh37]
Chr2:2p16.3
pathogenic
NC_000002.11:g.(?_51008023)_(51294599_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000023000] Chr2:51008023..51294599 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.656_664del (p.Ala219_Glu221del) deletion NRXN1-related disorder [RCV004537881]|Pitt-Hopkins-like syndrome 2 [RCV001337141]|not provided [RCV000660413] Chr2:51027610..51027618 [GRCh38]
Chr2:51254748..51254756 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.772+1045G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000525075] Chr2:51026457 [GRCh38]
Chr2:51253595 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2953G>A (p.Asp985Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000544411]|not specified [RCV000517560] Chr2:50496022 [GRCh38]
Chr2:50723160 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.881A>G (p.Tyr294Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000531020] Chr2:50623567 [GRCh38]
Chr2:50850705 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.772+1081A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000700475]|not provided [RCV000522827] Chr2:51026421 [GRCh38]
Chr2:51253559 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.859A>C (p.Lys287Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619686]|not specified [RCV000517579] Chr2:50623589 [GRCh38]
Chr2:50850727 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4029G>A (p.Met1343Ile) single nucleotide variant Inborn genetic diseases [RCV002329231]|Pitt-Hopkins-like syndrome 2 [RCV000697380]|not provided [RCV000521963] Chr2:50053370 [GRCh38]
Chr2:50280508 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2936C>G (p.Ser979Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000009608] Chr2:50496039 [GRCh38]
Chr2:50723177 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001135659.1(NRXN1):c.4249-1927G>T single nucleotide variant Lung cancer [RCV000092156] Chr2:49945718 [GRCh38]
Chr2:50172856 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.4248+39950G>C single nucleotide variant Lung cancer [RCV000092157] Chr2:50013321 [GRCh38]
Chr2:50240459 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.3839-7274T>C single nucleotide variant Lung cancer [RCV000092158] Chr2:50062318 [GRCh38]
Chr2:50289456 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.3667-22260C>T single nucleotide variant Lung cancer [RCV000092159] Chr2:50113754 [GRCh38]
Chr2:50340892 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.3666+41685G>T single nucleotide variant Lung cancer [RCV000092160] Chr2:50195104 [GRCh38]
Chr2:50422242 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.2495-340G>T single nucleotide variant Lung cancer [RCV000092161] Chr2:50506957 [GRCh38]
Chr2:50734095 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.932-142976T>A single nucleotide variant Lung cancer [RCV000092162] Chr2:50766591 [GRCh38]
Chr2:50993729 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.931+121073G>A single nucleotide variant Lung cancer [RCV000092163] Chr2:50800796 [GRCh38]
Chr2:51027934 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.931+48874A>G single nucleotide variant Lung cancer [RCV000092164] Chr2:50872995 [GRCh38]
Chr2:51100133 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p16.3(chr2:50665709-50755034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052121]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052121]|See cases [RCV000052121] Chr2:50665709..50755034 [GRCh38]
Chr2:50892847..50982172 [GRCh37]
Chr2:50746351..50835676 [NCBI36]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
GRCh38/hg38 2p16.3(chr2:50488123-50945044)x1 copy number loss See cases [RCV000054014] Chr2:50488123..50945044 [GRCh38]
Chr2:50715261..51172182 [GRCh37]
Chr2:50568765..51025686 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50548752-50755034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054015]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054015]|See cases [RCV000054015] Chr2:50548752..50755034 [GRCh38]
Chr2:50775890..50982172 [GRCh37]
Chr2:50629394..50835676 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50710306-51087292)x1 copy number loss See cases [RCV000054016] Chr2:50710306..51087292 [GRCh38]
Chr2:50937444..51314430 [GRCh37]
Chr2:50790948..51167934 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50737710-51173556)x1 copy number loss See cases [RCV000054017] Chr2:50737710..51173556 [GRCh38]
Chr2:50964848..51400694 [GRCh37]
Chr2:50818352..51254198 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50851255-50995129)x1 copy number loss See cases [RCV000054018] Chr2:50851255..50995129 [GRCh38]
Chr2:51078393..51222267 [GRCh37]
Chr2:50931897..51075771 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50856272-51155734)x1 copy number loss See cases [RCV000054019] Chr2:50856272..51155734 [GRCh38]
Chr2:51083410..51382872 [GRCh37]
Chr2:50936914..51236376 [NCBI36]
Chr2:2p16.3
pathogenic
NM_001135659.1(NRXN1):c.2807G>A (p.Arg936Lys) single nucleotide variant Malignant melanoma [RCV000065625] Chr2:50497525 [GRCh38]
Chr2:50724663 [GRCh37]
Chr2:50578167 [NCBI36]
Chr2:2p16.3
not provided
NM_001135659.1(NRXN1):c.2609C>T (p.Ala870Val) single nucleotide variant Malignant melanoma [RCV000065626] Chr2:50506503 [GRCh38]
Chr2:50733641 [GRCh37]
Chr2:50587145 [NCBI36]
Chr2:2p16.3
not provided
NM_001135659.1(NRXN1):c.2196G>A (p.Arg732=) single nucleotide variant Malignant melanoma [RCV000065627] Chr2:50538320 [GRCh38]
Chr2:50765458 [GRCh37]
Chr2:50618962 [NCBI36]
Chr2:2p16.3
not provided
NM_001135659.1(NRXN1):c.1607G>A (p.Trp536Ter) single nucleotide variant Malignant melanoma [RCV000065628] Chr2:50552859 [GRCh38]
Chr2:50779997 [GRCh37]
Chr2:50633501 [NCBI36]
Chr2:2p16.3
not provided
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) single nucleotide variant Inborn genetic diseases [RCV002313756]|Pitt-Hopkins-like syndrome 2 [RCV001082246]|not provided [RCV000723673]|not specified [RCV000186642] Chr2:51028169 [GRCh38]
Chr2:51255307 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) single nucleotide variant Inborn genetic diseases [RCV002311578]|NRXN1-related disorder [RCV004537323]|Pitt-Hopkins-like syndrome 2 [RCV000209954]|not provided [RCV000857869]|not specified [RCV000079510] Chr2:50620057 [GRCh38]
Chr2:50847195 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1320+10G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001854404]|not provided [RCV000723726]|not specified [RCV000079511] Chr2:50620012 [GRCh38]
Chr2:50847150 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) single nucleotide variant Inborn genetic diseases [RCV002316228]|Pitt-Hopkins-like syndrome 2 [RCV000764446]|Pitt-Hopkins-like syndrome 2 [RCV001215824]|not provided [RCV000079512] Chr2:50552646 [GRCh38]
Chr2:50779784 [GRCh37]
Chr2:2p16.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1969C>T (p.Arg657Trp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000824551]|not provided [RCV000079513] Chr2:50538427 [GRCh38]
Chr2:50765565 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) single nucleotide variant Inborn genetic diseases [RCV002311579]|Pitt-Hopkins-like syndrome 2 [RCV001083273]|not provided [RCV000443049]|not specified [RCV000079514] Chr2:50538274 [GRCh38]
Chr2:50765412 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) single nucleotide variant Inborn genetic diseases [RCV002311580]|Pitt-Hopkins-like syndrome 2 [RCV000467657]|not provided [RCV003421974]|not specified [RCV000173027] Chr2:50506607 [GRCh38]
Chr2:50733745 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) single nucleotide variant Inborn genetic diseases [RCV002311581]|Pitt-Hopkins-like syndrome 2 [RCV000230396]|not specified [RCV000079516] Chr2:50506571 [GRCh38]
Chr2:50733709 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) single nucleotide variant Inborn genetic diseases [RCV002316229]|NRXN1-related disorder [RCV004537324]|Pitt-Hopkins-like syndrome 2 [RCV000515261]|Pitt-Hopkins-like syndrome 2 [RCV001085353]|not provided [RCV000723597]|not specified [RCV000188281] Chr2:50497607 [GRCh38]
Chr2:50724745 [GRCh37]
Chr2:2p16.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) single nucleotide variant Inborn genetic diseases [RCV002316230]|Pitt-Hopkins-like syndrome 2 [RCV001081066]|not provided [RCV000723568]|not specified [RCV000186645] Chr2:50497482 [GRCh38]
Chr2:50724620 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.2879+7A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001404961]|not provided [RCV000079519] Chr2:50497326 [GRCh38]
Chr2:50724464 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3012G>A (p.Lys1004=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001078643]|not provided [RCV000079520] Chr2:50495963 [GRCh38]
Chr2:50723101 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3042C>T (p.Thr1014=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001419681]|not provided [RCV000723574]|not specified [RCV000079521] Chr2:50495933 [GRCh38]
Chr2:50723071 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) single nucleotide variant Inborn genetic diseases [RCV002313757]|NRXN1-related disorder [RCV004542756]|Pitt-Hopkins-like syndrome 2 [RCV001085705]|not provided [RCV000710165]|not specified [RCV000186646] Chr2:50495930 [GRCh38]
Chr2:50723068 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.3071-10C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001497043]|not provided [RCV000723723] Chr2:50472481 [GRCh38]
Chr2:50699619 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) single nucleotide variant Inborn genetic diseases [RCV002316231]|Intellectual disability [RCV001251858]|NRXN1-related disorder [RCV004537325]|Pitt-Hopkins-like syndrome 2 [RCV000515350]|Pitt-Hopkins-like syndrome 2 [RCV001082855]|not provided [RCV000723727] Chr2:51027952 [GRCh38]
Chr2:51255090 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) single nucleotide variant Inborn genetic diseases [RCV002316232]|Pitt-Hopkins-like syndrome 2 [RCV001086473]|not provided [RCV000723586]|not specified [RCV000186647] Chr2:50472413 [GRCh38]
Chr2:50699551 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.3364+20T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001513082]|not provided [RCV001675605]|not specified [RCV000079526] Chr2:50465422 [GRCh38]
Chr2:50692560 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) single nucleotide variant Inborn genetic diseases [RCV004019538]|Pitt-Hopkins-like syndrome 2 [RCV001080183]|not provided [RCV000710166]|not specified [RCV000079527] Chr2:50053466 [GRCh38]
Chr2:50280604 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) single nucleotide variant Inborn genetic diseases [RCV002311582]|Pitt-Hopkins-like syndrome 2 [RCV000261050]|not provided [RCV001711228]|not specified [RCV000079528] Chr2:51027763 [GRCh38]
Chr2:51254901 [GRCh37]
Chr2:2p16.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001330078.2(NRXN1):c.1958G>A (p.Ser653Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619648]|not provided [RCV000117832] Chr2:50538438 [GRCh38]
Chr2:50765576 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.772+1050C>A single nucleotide variant Inborn genetic diseases [RCV002316312]|Pitt-Hopkins-like syndrome 2 [RCV000460863]|not provided [RCV000117833] Chr2:51026452 [GRCh38]
Chr2:51253590 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1158+26A>T single nucleotide variant Inborn genetic diseases [RCV002316313]|Intellectual disability [RCV001251856]|NRXN1-related disorder [RCV004529971]|Pitt-Hopkins-like syndrome 2 [RCV001083943]|not provided [RCV000117834]|not specified [RCV002464115] Chr2:50621200 [GRCh38]
Chr2:50848338 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=) single nucleotide variant Inborn genetic diseases [RCV002312194]|Pitt-Hopkins-like syndrome 2 [RCV001088487]|not provided [RCV000117836]|not specified [RCV000417600] Chr2:50472323 [GRCh38]
Chr2:50699461 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=) single nucleotide variant Inborn genetic diseases [RCV002313909]|Pitt-Hopkins-like syndrome 2 [RCV000231057]|not specified [RCV000117837] Chr2:50465557 [GRCh38]
Chr2:50692695 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3344G>A (p.Ser1115Asn) single nucleotide variant Inborn genetic diseases [RCV002453433]|Pitt-Hopkins-like syndrome 2 [RCV001046749]|not provided [RCV000117838] Chr2:50465462 [GRCh38]
Chr2:50692600 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) single nucleotide variant History of neurodevelopmental disorder [RCV000717050]|Pitt-Hopkins-like syndrome 2 [RCV000233932]|not specified [RCV000117839] Chr2:50236927 [GRCh38]
Chr2:50464065 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=) single nucleotide variant History of neurodevelopmental disorder [RCV000716687]|NRXN1-related disorder [RCV004529972]|Pitt-Hopkins-like syndrome 2 [RCV000473497]|not specified [RCV000117840] Chr2:50053331 [GRCh38]
Chr2:50280469 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) single nucleotide variant History of neurodevelopmental disorder [RCV000716113]|Pitt-Hopkins-like syndrome 2 [RCV001082689]|not provided [RCV000723887]|not specified [RCV000186639] Chr2:49922214 [GRCh38]
Chr2:50149352 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.772+1140G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001079862]|not provided [RCV000513746]|not specified [RCV000117842] Chr2:51026362 [GRCh38]
Chr2:51253500 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001330078.2(NRXN1):c.777C>T (p.Asp259=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001403661]|not provided [RCV000117843] Chr2:50925951 [GRCh38]
Chr2:51153089 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) single nucleotide variant Inborn genetic diseases [RCV002312195]|Pitt-Hopkins-like syndrome 2 [RCV000459957]|not provided [RCV000992454]|not specified [RCV000117844] Chr2:50623548 [GRCh38]
Chr2:50850686 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001330078.2(NRXN1):c.3365-110011C>T single nucleotide variant not specified [RCV000602712] Chr2:50346981 [GRCh38]
Chr2:50574119 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) single nucleotide variant History of neurodevelopmental disorder [RCV000715969]|Pitt-Hopkins-like syndrome 2 [RCV001085278]|not provided [RCV000463080]|not specified [RCV000127236] Chr2:49922193 [GRCh38]
Chr2:50149331 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000002.10:g.(50704258_51001003_51113677_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000009607] Chr2:2p16.3 pathogenic
NM_001330078.2(NRXN1):c.1135-8C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000543447]|not provided [RCV001755882] Chr2:50621257 [GRCh38]
Chr2:50848395 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50448670-50909614)x1 copy number loss See cases [RCV000053982] Chr2:50448670..50909614 [GRCh38]
Chr2:50675808..51136752 [GRCh37]
Chr2:50529312..50990256 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50485201-50531213)x1 copy number loss See cases [RCV000053983] Chr2:50485201..50531213 [GRCh38]
Chr2:50712339..50758351 [GRCh37]
Chr2:50565843..50611855 [NCBI36]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.-922+7A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000326728]|not specified [RCV000127231] Chr2:51031974 [GRCh38]
Chr2:51259112 [GRCh37]
Chr2:2p16.3
benign|uncertain significance
NM_001330078.2(NRXN1):c.4216+17T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002512525]|not specified [RCV000127232] Chr2:49943687 [GRCh38]
Chr2:50170825 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.798G>A (p.Ala266=) single nucleotide variant NRXN1-related disorder [RCV004532525]|Pitt-Hopkins-like syndrome 2 [RCV000542258]|not specified [RCV000127233] Chr2:50922680 [GRCh38]
Chr2:51149818 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.4217-16A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002055715]|Pitt-Hopkins-like syndrome 2 [RCV002505094]|not specified [RCV000127234] Chr2:49922267 [GRCh38]
Chr2:50149405 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=) single nucleotide variant Inborn genetic diseases [RCV002326836]|Pitt-Hopkins-like syndrome 2 [RCV000703577]|not specified [RCV000127235] Chr2:49922232 [GRCh38]
Chr2:50149370 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) single nucleotide variant History of neurodevelopmental disorder [RCV000717146]|Pitt-Hopkins-like syndrome 2 [RCV000649752]|not provided [RCV003407536]|not specified [RCV000127237] Chr2:49922076 [GRCh38]
Chr2:50149214 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) single nucleotide variant History of neurodevelopmental disorder [RCV000717459]|NRXN1-related disorder [RCV004532526]|Pitt-Hopkins-like syndrome 2 [RCV000459770]|not provided [RCV001529050]|not specified [RCV000186640] Chr2:49921995 [GRCh38]
Chr2:50149133 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.-34C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000385562]|not specified [RCV000127239] Chr2:51028307 [GRCh38]
Chr2:51255445 [GRCh37]
Chr2:2p16.3
benign|uncertain significance
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) single nucleotide variant Inborn genetic diseases [RCV002312908]|NRXN1-related disorder [RCV004528847]|Pitt-Hopkins-like syndrome 2 [RCV001084654]|not provided [RCV000723784]|not specified [RCV000186641] Chr2:50552981 [GRCh38]
Chr2:50780119 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) single nucleotide variant Inborn genetic diseases [RCV002312909]|Pitt-Hopkins-like syndrome 2 [RCV001082810]|not provided [RCV000712449]|not specified [RCV000127241] Chr2:50552771 [GRCh38]
Chr2:50779909 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001330078.2(NRXN1):c.1760-16C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002055716]|not provided [RCV003422016]|not specified [RCV000153603] Chr2:50538652 [GRCh38]
Chr2:50765790 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.2143+19A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002055717]|not specified [RCV000127243] Chr2:50538234 [GRCh38]
Chr2:50765372 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) single nucleotide variant Inborn genetic diseases [RCV002426688]|Pitt-Hopkins-like syndrome 2 [RCV000462667]|not specified [RCV000127244] Chr2:51028052 [GRCh38]
Chr2:51255190 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2347+18C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002055718]|not specified [RCV000127245] Chr2:50531209 [GRCh38]
Chr2:50758347 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.261C>A (p.Gly87=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000468290]|not specified [RCV000127246] Chr2:51028013 [GRCh38]
Chr2:51255151 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=) single nucleotide variant NRXN1-related disorder [RCV004544276]|Pitt-Hopkins-like syndrome 2 [RCV001087602]|not provided [RCV000724556]|not specified [RCV000186643] Chr2:51027776 [GRCh38]
Chr2:51254914 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) single nucleotide variant Inborn genetic diseases [RCV002312910]|Pitt-Hopkins-like syndrome 2 [RCV001085357]|not provided [RCV000712451]|not specified [RCV000186644] Chr2:51027773 [GRCh38]
Chr2:51254911 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh37/hg19 2p16.3(chr2:51251498-51491417) copy number loss Global developmental delay [RCV001291963] Chr2:51251498..51491417 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.4080T>C (p.Thr1360=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001303039] Chr2:50053319 [GRCh38]
Chr2:50280457 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:51005771-51246088)x1 copy number loss See cases [RCV000184078] Chr2:51005771..51246088 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.1382C>T (p.Pro461Leu) single nucleotide variant Inborn genetic diseases [RCV002517666]|Pitt-Hopkins-like syndrome 2 [RCV000549238]|not provided [RCV000724087] Chr2:50552964 [GRCh38]
Chr2:50780102 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) single nucleotide variant Inborn genetic diseases [RCV002316996]|NRXN1-related disorder [RCV004535187]|Pitt-Hopkins-like syndrome 2 [RCV001081850]|not provided [RCV000712450] Chr2:50552658 [GRCh38]
Chr2:50779796 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1531A>G (p.Thr511Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619656]|not provided [RCV000173731] Chr2:50552815 [GRCh38]
Chr2:50779953 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) single nucleotide variant Inborn genetic diseases [RCV002390418]|Pitt-Hopkins-like syndrome 2 [RCV001080670]|not provided [RCV000724283]|not specified [RCV000173732] Chr2:50553020 [GRCh38]
Chr2:50780158 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2008C>G (p.Pro670Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649742]|not provided [RCV000174043] Chr2:50538388 [GRCh38]
Chr2:50765526 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001086764]|not provided [RCV000724259] Chr2:50538553 [GRCh38]
Chr2:50765691 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2p16.3(chr2:50999032-51329577)x1 copy number loss See cases [RCV000133639] Chr2:50999032..51329577 [GRCh38]
Chr2:51226170..51556715 [GRCh37]
Chr2:51079674..51410219 [NCBI36]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.2785C>T (p.Leu929Phe) single nucleotide variant not provided [RCV000174862] Chr2:50497427 [GRCh38]
Chr2:50724565 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2567G>A (p.Arg856Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001852132]|not provided [RCV000174863] Chr2:50497645 [GRCh38]
Chr2:50724783 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2502A>G (p.Gln834=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002516649]|not provided [RCV000174864] Chr2:50497710 [GRCh38]
Chr2:50724848 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50822507-50839440)x1 copy number loss See cases [RCV000134241] Chr2:50822507..50839440 [GRCh38]
Chr2:51049645..51066578 [GRCh37]
Chr2:50903149..50920082 [NCBI36]
Chr2:2p16.3
benign
GRCh38/hg38 2p16.3(chr2:50822507-50894953)x1 copy number loss See cases [RCV000134242] Chr2:50822507..50894953 [GRCh38]
Chr2:51049645..51122091 [GRCh37]
Chr2:50903149..50975595 [NCBI36]
Chr2:2p16.3
benign
GRCh38/hg38 2p16.3(chr2:50682627-51009921)x1 copy number loss See cases [RCV000134005] Chr2:50682627..51009921 [GRCh38]
Chr2:50909765..51237059 [GRCh37]
Chr2:50763269..51090563 [NCBI36]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p16.3(chr2:50944985-51024360)x1 copy number loss See cases [RCV000135326] Chr2:50944985..51024360 [GRCh38]
Chr2:51172123..51251498 [GRCh37]
Chr2:51025627..51105002 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50856272-50999091)x1 copy number loss See cases [RCV000135742] Chr2:50856272..50999091 [GRCh38]
Chr2:51083410..51226229 [GRCh37]
Chr2:50936914..51079733 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50710306-50999091)x1 copy number loss See cases [RCV000135760] Chr2:50710306..50999091 [GRCh38]
Chr2:50937444..51226229 [GRCh37]
Chr2:50790948..51079733 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50754975-50999091)x1 copy number loss See cases [RCV000135575] Chr2:50754975..50999091 [GRCh38]
Chr2:50982113..51226229 [GRCh37]
Chr2:50835617..51079733 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50574983-50710365)x1 copy number loss See cases [RCV000137561] Chr2:50574983..50710365 [GRCh38]
Chr2:50802121..50937503 [GRCh37]
Chr2:50655625..50791007 [NCBI36]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.3364+3A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001852145]|not provided [RCV000175283] Chr2:50465439 [GRCh38]
Chr2:50692577 [GRCh37]
Chr2:2p16.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2p16.3(chr2:50654953-50720666)x1 copy number loss See cases [RCV000138692] Chr2:50654953..50720666 [GRCh38]
Chr2:50882091..50947804 [GRCh37]
Chr2:50735595..50801308 [NCBI36]
Chr2:2p16.3
likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50751328-51301336)x1 copy number loss See cases [RCV000138563] Chr2:50751328..51301336 [GRCh38]
Chr2:50978466..51528474 [GRCh37]
Chr2:50831970..51381978 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50498526-50830659)x1 copy number loss See cases [RCV000138635] Chr2:50498526..50830659 [GRCh38]
Chr2:50725664..51057797 [GRCh37]
Chr2:50579168..50911301 [NCBI36]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p16.3(chr2:49910932-52462336)x1 copy number loss See cases [RCV000139317] Chr2:49910932..52462336 [GRCh38]
Chr2:50138070..52689474 [GRCh37]
Chr2:49991574..52542978 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50599412-50698758)x1 copy number loss See cases [RCV000139429] Chr2:50599412..50698758 [GRCh38]
Chr2:50826550..50925896 [GRCh37]
Chr2:50680054..50779400 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50751318-50856339)x1 copy number loss See cases [RCV000139224] Chr2:50751318..50856339 [GRCh38]
Chr2:50978456..51083477 [GRCh37]
Chr2:50831960..50936981 [NCBI36]
Chr2:2p16.3
likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50555992-50579912)x1 copy number loss See cases [RCV000138945] Chr2:50555992..50579912 [GRCh38]
Chr2:50783130..50807050 [GRCh37]
Chr2:50636634..50660554 [NCBI36]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p16.3(chr2:50584029-50642926)x1 copy number loss See cases [RCV000139903] Chr2:50584029..50642926 [GRCh38]
Chr2:50811167..50870064 [GRCh37]
Chr2:50664671..50723568 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50931103-50960020)x1 copy number loss See cases [RCV000139914] Chr2:50931103..50960020 [GRCh38]
Chr2:51158241..51187158 [GRCh37]
Chr2:51011745..51040662 [NCBI36]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p16.3(chr2:50682627-51107991)x1 copy number loss See cases [RCV000141354] Chr2:50682627..51107991 [GRCh38]
Chr2:50909765..51335129 [GRCh37]
Chr2:50763269..51188633 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50265501-50274792)x1 copy number loss See cases [RCV000141045] Chr2:50265501..50274792 [GRCh38]
Chr2:50492639..50501930 [GRCh37]
Chr2:50346143..50355434 [NCBI36]
Chr2:2p16.3
likely benign
GRCh38/hg38 2p16.3(chr2:49910893-49943628)x3 copy number gain See cases [RCV000141061] Chr2:49910893..49943628 [GRCh38]
Chr2:50138031..50170766 [GRCh37]
Chr2:49991535..50024270 [NCBI36]
Chr2:2p16.3
likely benign
GRCh38/hg38 2p16.3(chr2:50794314-50801971)x1 copy number loss See cases [RCV000141074] Chr2:50794314..50801971 [GRCh38]
Chr2:51021452..51029109 [GRCh37]
Chr2:50874956..50882613 [NCBI36]
Chr2:2p16.3
likely benign
GRCh38/hg38 2p16.3(chr2:50619962-51329577)x1 copy number loss See cases [RCV000140869] Chr2:50619962..51329577 [GRCh38]
Chr2:50847100..51556715 [GRCh37]
Chr2:50700604..51410219 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p16.3(chr2:50654857-50720591)x1 copy number loss See cases [RCV000141454] Chr2:50654857..50720591 [GRCh38]
Chr2:50881995..50947729 [GRCh37]
Chr2:50735499..50801233 [NCBI36]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p16.3(chr2:50974455-50999101)x1 copy number loss See cases [RCV000142478] Chr2:50974455..50999101 [GRCh38]
Chr2:51201593..51226239 [GRCh37]
Chr2:51055097..51079743 [NCBI36]
Chr2:2p16.3
likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50915711-51283823)x1 copy number loss See cases [RCV000142614] Chr2:50915711..51283823 [GRCh38]
Chr2:51142849..51510961 [GRCh37]
Chr2:50996353..51364465 [NCBI36]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.2827C>A (p.Leu943Ile) single nucleotide variant not specified [RCV000202871] Chr2:50497385 [GRCh38]
Chr2:50724523 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) single nucleotide variant Inborn genetic diseases [RCV002316970]|NRXN1-related disorder [RCV004532729]|Pitt-Hopkins-like syndrome 2 [RCV000649744]|not provided [RCV000723794]|not specified [RCV000188230] Chr2:50538451 [GRCh38]
Chr2:50765589 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1913A>G (p.Tyr638Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000807785]|not provided [RCV000153602] Chr2:50538483 [GRCh38]
Chr2:50765621 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.772+1078A>G single nucleotide variant Inborn genetic diseases [RCV002316971]|Pitt-Hopkins-like syndrome 2 [RCV000467253]|not provided [RCV001704115]|not specified [RCV000153604] Chr2:51026424 [GRCh38]
Chr2:51253562 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) single nucleotide variant Inborn genetic diseases [RCV002312998]|Intellectual disability [RCV001251857]|Pitt-Hopkins-like syndrome 2 [RCV000473936]|Pitt-Hopkins-like syndrome 2 [RCV000515306]|not provided [RCV000723758]|not specified [RCV000188273] Chr2:51027705 [GRCh38]
Chr2:51254843 [GRCh37]
Chr2:2p16.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.24C>T (p.Arg8=) single nucleotide variant Inborn genetic diseases [RCV002453617]|Pitt-Hopkins-like syndrome 2 [RCV001089109]|not provided [RCV000175677] Chr2:51028250 [GRCh38]
Chr2:51255388 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.518C>G (p.Ser173Trp) single nucleotide variant not provided [RCV000175678] Chr2:51027756 [GRCh38]
Chr2:51254894 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) single nucleotide variant Inborn genetic diseases [RCV002426841]|Pitt-Hopkins-like syndrome 2 [RCV000765689]|Pitt-Hopkins-like syndrome 2 [RCV001035816]|See cases [RCV002252019]|not provided [RCV000656993] Chr2:51028004 [GRCh38]
Chr2:51255142 [GRCh37]
Chr2:2p16.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.772+1024C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000792511]|not specified [RCV000192851] Chr2:51026478 [GRCh38]
Chr2:51253616 [GRCh37]
Chr2:2p16.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=) single nucleotide variant History of neurodevelopmental disorder [RCV000719951]|Pitt-Hopkins-like syndrome 2 [RCV000866214]|not provided [RCV001589068]|not specified [RCV000193445] Chr2:49922220 [GRCh38]
Chr2:50149358 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3616A>G (p.Ile1206Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002517107]|not provided [RCV000767067]|not specified [RCV000193549] Chr2:50091425 [GRCh38]
Chr2:50318563 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.782A>G (p.Asn261Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001852207]|not provided [RCV000178151]|not specified [RCV001818434] Chr2:50925946 [GRCh38]
Chr2:51153084 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1424A>C (p.Asn475Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001206083]|not specified [RCV000193954] Chr2:50552922 [GRCh38]
Chr2:50780060 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4167C>G (p.Pro1389=) single nucleotide variant Inborn genetic diseases [RCV002317700]|Pitt-Hopkins-like syndrome 2 [RCV000558765]|not provided [RCV001705083]|not specified [RCV000194780] Chr2:49943753 [GRCh38]
Chr2:50170891 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.882C>T (p.Tyr294=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001080290]|not provided [RCV000724611]|not specified [RCV000188224] Chr2:50623566 [GRCh38]
Chr2:50850704 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p16.3(chr2:51148483-51314430)x1 copy number loss See cases [RCV000240056] Chr2:51148483..51314430 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.2537A>C (p.Asn846Thr) single nucleotide variant not specified [RCV000193253] Chr2:50497675 [GRCh38]
Chr2:50724813 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.772+9del deletion NRXN1-related disorder [RCV004530137]|Pitt-Hopkins-like syndrome 2 [RCV001400508]|not specified [RCV000194609] Chr2:51027493 [GRCh38]
Chr2:51254631 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2075G>A (p.Arg692Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001373960]|not specified [RCV000195090] Chr2:50538321 [GRCh38]
Chr2:50765459 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.353G>A (p.Arg118His) single nucleotide variant not provided [RCV000188266] Chr2:51027921 [GRCh38]
Chr2:51255059 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2879+20A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002055719]|not specified [RCV000127250] Chr2:50497313 [GRCh38]
Chr2:50724451 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.3365-109709A>G single nucleotide variant not specified [RCV000127256] Chr2:50346679 [GRCh38]
Chr2:50573817 [GRCh37]
Chr2:2p16.3
benign
GRCh38/hg38 2p16.3(chr2:50453657-50665768)x1 copy number loss See cases [RCV000133648] Chr2:50453657..50665768 [GRCh38]
Chr2:50680795..50892906 [GRCh37]
Chr2:50534299..50746410 [NCBI36]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) single nucleotide variant Inborn genetic diseases [RCV002433764]|Pitt-Hopkins-like syndrome 2 [RCV000868228]|not provided [RCV001721105]|not specified [RCV000174865] Chr2:50497705 [GRCh38]
Chr2:50724843 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2332C>A (p.Leu778Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001325548]|not provided [RCV000174287] Chr2:50531242 [GRCh38]
Chr2:50758380 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p16.3(chr2:50856272-50915770)x1 copy number loss See cases [RCV000134155] Chr2:50856272..50915770 [GRCh38]
Chr2:51083410..51142908 [GRCh37]
Chr2:50936914..50996412 [NCBI36]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1 copy number loss See cases [RCV000133939] Chr2:46806218..50565538 [GRCh38]
Chr2:47033357..50792676 [GRCh37]
Chr2:46886861..50646180 [NCBI36]
Chr2:2p21-16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:51009862-51155675)x1 copy number loss See cases [RCV000135318] Chr2:51009862..51155675 [GRCh38]
Chr2:51237000..51382813 [GRCh37]
Chr2:51090504..51236317 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50498591-50710365)x1 copy number loss See cases [RCV000134952] Chr2:50498591..50710365 [GRCh38]
Chr2:50725729..50937503 [GRCh37]
Chr2:50579233..50791007 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50453657-50710365)x1 copy number loss See cases [RCV000134953] Chr2:50453657..50710365 [GRCh38]
Chr2:50680795..50937503 [GRCh37]
Chr2:50534299..50791007 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50915711-50999091)x1 copy number loss See cases [RCV000134980] Chr2:50915711..50999091 [GRCh38]
Chr2:51142849..51226229 [GRCh37]
Chr2:50996353..51079733 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50999032-51155734)x1 copy number loss See cases [RCV000135658] Chr2:50999032..51155734 [GRCh38]
Chr2:51226170..51382872 [GRCh37]
Chr2:51079674..51236376 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50809966-51219735)x1 copy number loss See cases [RCV000135555] Chr2:50809966..51219735 [GRCh38]
Chr2:51037104..51446873 [GRCh37]
Chr2:50890608..51300377 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50716342-50801952)x1 copy number loss See cases [RCV000136003] Chr2:50716342..50801952 [GRCh38]
Chr2:50943480..51029090 [GRCh37]
Chr2:50796984..50882594 [NCBI36]
Chr2:2p16.3
likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50665709-50856331)x1 copy number loss See cases [RCV000136914] Chr2:50665709..50856331 [GRCh38]
Chr2:50892847..51083469 [GRCh37]
Chr2:50746351..50936973 [NCBI36]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p16.3(chr2:50999032-51087292)x1 copy number loss See cases [RCV000137251] Chr2:50999032..51087292 [GRCh38]
Chr2:51226170..51314430 [GRCh37]
Chr2:51079674..51167934 [NCBI36]
Chr2:2p16.3
pathogenic|conflicting data from submitters
GRCh38/hg38 2p16.3(chr2:50619962-50755034)x1 copy number loss See cases [RCV000137304] Chr2:50619962..50755034 [GRCh38]
Chr2:50847100..50982172 [GRCh37]
Chr2:50700604..50835676 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50860917-51029929)x1 copy number loss See cases [RCV000137783] Chr2:50860917..51029929 [GRCh38]
Chr2:51088055..51257067 [GRCh37]
Chr2:50941559..51110571 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50953423-51131743)x1 copy number loss See cases [RCV000138361] Chr2:50953423..51131743 [GRCh38]
Chr2:51180561..51358881 [GRCh37]
Chr2:51034065..51212385 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50008168-50041168)x1 copy number loss See cases [RCV000138377] Chr2:50008168..50041168 [GRCh38]
Chr2:50235306..50268306 [GRCh37]
Chr2:50088810..50121810 [NCBI36]
Chr2:2p16.3
likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50931078-51009926)x3 copy number gain See cases [RCV000139311] Chr2:50931078..51009926 [GRCh38]
Chr2:51158216..51237064 [GRCh37]
Chr2:51011720..51090568 [NCBI36]
Chr2:2p16.3
likely benign
GRCh38/hg38 2p16.3(chr2:50591217-50931162)x1 copy number loss See cases [RCV000138906] Chr2:50591217..50931162 [GRCh38]
Chr2:50818355..51158300 [GRCh37]
Chr2:50671859..51011804 [NCBI36]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) single nucleotide variant Obesity [RCV000787967]|Pitt-Hopkins-like syndrome 2 [RCV002466460]|not provided [RCV000522614] Chr2:50236836 [GRCh38]
Chr2:50463974 [GRCh37]
Chr2:2p16.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2p16.3(chr2:50587538-50730317)x1 copy number loss See cases [RCV000140117] Chr2:50587538..50730317 [GRCh38]
Chr2:50814676..50957455 [GRCh37]
Chr2:50668180..50810959 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50743524-50780885)x3 copy number gain See cases [RCV000140128] Chr2:50743524..50780885 [GRCh38]
Chr2:50970662..51008023 [GRCh37]
Chr2:50824166..50861527 [NCBI36]
Chr2:2p16.3
benign
GRCh38/hg38 2p16.3(chr2:50856272-50882552)x1 copy number loss See cases [RCV000140129] Chr2:50856272..50882552 [GRCh38]
Chr2:51083410..51109690 [GRCh37]
Chr2:50936914..50963194 [NCBI36]
Chr2:2p16.3
likely benign
GRCh38/hg38 2p16.3(chr2:50004126-50041370)x3 copy number gain See cases [RCV000140145] Chr2:50004126..50041370 [GRCh38]
Chr2:50231264..50268508 [GRCh37]
Chr2:50084768..50122012 [NCBI36]
Chr2:2p16.3
likely benign
GRCh38/hg38 2p16.3(chr2:50691323-50780852)x1 copy number loss See cases [RCV000139529] Chr2:50691323..50780852 [GRCh38]
Chr2:50918461..51007990 [GRCh37]
Chr2:50771965..50861494 [NCBI36]
Chr2:2p16.3
likely benign
GRCh38/hg38 2p16.3(chr2:50624294-51265729)x1 copy number loss See cases [RCV000140933] Chr2:50624294..51265729 [GRCh38]
Chr2:50851432..51492867 [GRCh37]
Chr2:50704936..51346371 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50827235-50953482)x1 copy number loss See cases [RCV000140747] Chr2:50827235..50953482 [GRCh38]
Chr2:51054373..51180620 [GRCh37]
Chr2:50907877..51034124 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50172113-50801952)x3 copy number gain See cases [RCV000142415] Chr2:50172113..50801952 [GRCh38]
Chr2:50399251..51029090 [GRCh37]
Chr2:50252755..50882594 [NCBI36]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p16.3(chr2:50839917-50873340)x1 copy number loss See cases [RCV000142950] Chr2:50839917..50873340 [GRCh38]
Chr2:51067055..51100478 [GRCh37]
Chr2:50920559..50953982 [NCBI36]
Chr2:2p16.3
likely benign|uncertain significance
GRCh38/hg38 2p16.3(chr2:50794296-50839976)x1 copy number loss See cases [RCV000142872] Chr2:50794296..50839976 [GRCh38]
Chr2:51021434..51067114 [GRCh37]
Chr2:50874938..50920618 [NCBI36]
Chr2:2p16.3
uncertain significance
GRCh38/hg38 2p16.3(chr2:48929614-50839499)x1 copy number loss See cases [RCV000143016] Chr2:48929614..50839499 [GRCh38]
Chr2:49156753..51066637 [GRCh37]
Chr2:49010257..50920141 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50623553-50754975)x1 copy number loss See cases [RCV000142640] Chr2:50623553..50754975 [GRCh38]
Chr2:50850691..50982113 [GRCh37]
Chr2:50704195..50835617 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50734870-51033529)x1 copy number loss See cases [RCV000143148] Chr2:50734870..51033529 [GRCh38]
Chr2:50962008..51260667 [GRCh37]
Chr2:50815512..51114171 [NCBI36]
Chr2:2p16.3
pathogenic
GRCh38/hg38 2p16.3(chr2:50839440-51033529)x1 copy number loss See cases [RCV000143151] Chr2:50839440..51033529 [GRCh38]
Chr2:51066578..51260667 [GRCh37]
Chr2:50920082..51114171 [NCBI36]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.4128+4348_4128+12181del deletion Gestational diabetes mellitus uncontrolled [RCV000161211] Chr2:50041090..50048923 [GRCh38]
Chr2:50268228..50276061 [GRCh37]
Chr2:2p16.3
not provided
NM_001330078.2(NRXN1):c.1749C>T (p.Asp583=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000232596]|not provided [RCV003407697]|not specified [RCV000193373] Chr2:50552597 [GRCh38]
Chr2:50779735 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.4338T>C (p.Leu1446=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649757]|not specified [RCV000188222] Chr2:49922130 [GRCh38]
Chr2:50149268 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.-28A>C single nucleotide variant not specified [RCV000188226] Chr2:51028301 [GRCh38]
Chr2:51255439 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3365-109992C>T single nucleotide variant not specified [RCV000188238] Chr2:50346962 [GRCh38]
Chr2:50574100 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.4202G>A (p.Ser1401Asn) single nucleotide variant not provided [RCV000188241] Chr2:49943718 [GRCh38]
Chr2:50170856 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.949G>A (p.Ala317Thr) single nucleotide variant not specified [RCV000188243] Chr2:50623598 [GRCh38]
Chr2:50850736 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1202C>T (p.Thr401Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001055962]|not provided [RCV000188244] Chr2:50620140 [GRCh38]
Chr2:50847278 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.23G>T (p.Arg8Leu) single nucleotide variant not provided [RCV000188245] Chr2:51028251 [GRCh38]
Chr2:51255389 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.32G>A (p.Cys11Tyr) single nucleotide variant Inborn genetic diseases [RCV002321759]|Pitt-Hopkins-like syndrome 2 [RCV001315923]|not provided [RCV000188246] Chr2:51028242 [GRCh38]
Chr2:51255380 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1444A>T (p.Ile482Phe) single nucleotide variant not provided [RCV000188247] Chr2:50552902 [GRCh38]
Chr2:50780040 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.1628C>G (p.Ser543Cys) single nucleotide variant not specified [RCV000188248] Chr2:50552838 [GRCh38]
Chr2:50779976 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1592A>G (p.Lys531Arg) single nucleotide variant Inborn genetic diseases [RCV004020278]|not provided [RCV000766529]|not specified [RCV000188251] Chr2:50552754 [GRCh38]
Chr2:50779892 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1798G>T (p.Ala600Ser) single nucleotide variant not provided [RCV000188253] Chr2:50538598 [GRCh38]
Chr2:50765736 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1822G>A (p.Asp608Asn) single nucleotide variant not provided [RCV000188254] Chr2:50538574 [GRCh38]
Chr2:50765712 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2025A>C (p.Glu675Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001919702] Chr2:50538371 [GRCh38]
Chr2:50765509 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.208T>C (p.Phe70Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001852478]|not provided [RCV000188259] Chr2:51028066 [GRCh38]
Chr2:51255204 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2228C>A (p.Ser743Tyr) single nucleotide variant not provided [RCV000188262] Chr2:50531346 [GRCh38]
Chr2:50758484 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2564G>A (p.Arg855Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000519744] Chr2:50497648 [GRCh38]
Chr2:50724786 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2566C>T (p.Arg856Trp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001857625]|not provided [RCV000188278] Chr2:50497646 [GRCh38]
Chr2:50724784 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2570A>G (p.Tyr857Cys) single nucleotide variant not provided [RCV000188279] Chr2:50497642 [GRCh38]
Chr2:50724780 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000538380]|Pitt-Hopkins-like syndrome 2 [RCV002492865]|not provided [RCV000188280] Chr2:50497615 [GRCh38]
Chr2:50724753 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2659G>A (p.Asp887Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001324983]|not provided [RCV000188282] Chr2:50497553 [GRCh38]
Chr2:50724691 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2815G>A (p.Asp939Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001857626]|not provided [RCV000188284] Chr2:50497397 [GRCh38]
Chr2:50724535 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2979A>G (p.Ile993Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619658]|not provided [RCV000188285] Chr2:50495996 [GRCh38]
Chr2:50723134 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.3332T>C (p.Phe1111Ser) single nucleotide variant not specified [RCV000188289] Chr2:50472330 [GRCh38]
Chr2:50699468 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3254C>T (p.Thr1085Ile) single nucleotide variant Inborn genetic diseases [RCV002453694]|Pitt-Hopkins-like syndrome 2 [RCV000817752]|not provided [RCV000188290] Chr2:50465552 [GRCh38]
Chr2:50692690 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4494_4496del (p.Lys1499del) deletion Pitt-Hopkins-like syndrome 2 [RCV003619659]|not specified [RCV000188303] Chr2:49921972..49921974 [GRCh38]
Chr2:50149110..50149112 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1400_1401inv (p.Gly467Val) inversion Pitt-Hopkins-like syndrome 2 [RCV001852479]|not specified [RCV000188304] Chr2:50552945..50552946 [GRCh38]
Chr2:50780083..50780084 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2888del (p.His963fs) deletion not provided [RCV000188305] Chr2:50496087 [GRCh38]
Chr2:50723225 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.1292G>A (p.Ser431Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000626016]|not provided [RCV000188307] Chr2:50620050 [GRCh38]
Chr2:50847188 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2532C>G (p.Phe844Leu) single nucleotide variant not provided [RCV000188314] Chr2:50497680 [GRCh38]
Chr2:50724818 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1833T>C (p.Asp611=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000864874]|not specified [RCV000188229] Chr2:50538563 [GRCh38]
Chr2:50765701 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3365-109930G>T single nucleotide variant Inborn genetic diseases [RCV002312579]|not specified [RCV000127253] Chr2:50346900 [GRCh38]
Chr2:50574038 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3365-109893G>A single nucleotide variant not specified [RCV000127254] Chr2:50346863 [GRCh38]
Chr2:50574001 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3365-109830G>A single nucleotide variant Inborn genetic diseases [RCV002390289]|NRXN1-related disorder [RCV004544277]|not specified [RCV000127255] Chr2:50346800 [GRCh38]
Chr2:50573938 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.*18G>C single nucleotide variant not specified [RCV000188223] Chr2:49921926 [GRCh38]
Chr2:50149064 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.-21C>A single nucleotide variant not specified [RCV000188227] Chr2:51028294 [GRCh38]
Chr2:51255432 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=) single nucleotide variant Inborn genetic diseases [RCV002426908]|Pitt-Hopkins-like syndrome 2 [RCV001078519]|not provided [RCV000726803]|not specified [RCV000188231] Chr2:50538359 [GRCh38]
Chr2:50765497 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2193C>T (p.Leu731=) single nucleotide variant Inborn genetic diseases [RCV002317126]|Pitt-Hopkins-like syndrome 2 [RCV001392135]|not specified [RCV000188232] Chr2:50531381 [GRCh38]
Chr2:50758519 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.2274C>A (p.Thr758=) single nucleotide variant Inborn genetic diseases [RCV002317127]|Pitt-Hopkins-like syndrome 2 [RCV001488819]|not specified [RCV000188233] Chr2:50531300 [GRCh38]
Chr2:50758438 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.2375-20C>G single nucleotide variant not specified [RCV000188234] Chr2:50506637 [GRCh38]
Chr2:50733775 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) single nucleotide variant Inborn genetic diseases [RCV002317128]|Pitt-Hopkins-like syndrome 2 [RCV001088099]|not provided [RCV000727636]|not specified [RCV000188235] Chr2:50497440 [GRCh38]
Chr2:50724578 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) single nucleotide variant Inborn genetic diseases [RCV002321758]|Pitt-Hopkins-like syndrome 2 [RCV001087851]|not provided [RCV000477294]|not specified [RCV000188236] Chr2:50472452 [GRCh38]
Chr2:50699590 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) single nucleotide variant Inborn genetic diseases [RCV002317129]|Pitt-Hopkins-like syndrome 2 [RCV001084649]|not provided [RCV000585295]|not specified [RCV000188237] Chr2:50472341 [GRCh38]
Chr2:50699479 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3365-109703A>T single nucleotide variant not specified [RCV000188239] Chr2:50346673 [GRCh38]
Chr2:50573811 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.781A>G (p.Asn261Asp) single nucleotide variant Inborn genetic diseases [RCV003165423]|Pitt-Hopkins-like syndrome 2 [RCV000457101]|not provided [RCV000725747] Chr2:50925947 [GRCh38]
Chr2:51153085 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4274G>A (p.Arg1425Gln) single nucleotide variant Inborn genetic diseases [RCV002327013]|Pitt-Hopkins-like syndrome 2 [RCV003619657]|not provided [RCV000188242] Chr2:49922194 [GRCh38]
Chr2:50149332 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1566C>T (p.Gly522=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000695977]|not provided [RCV000188249] Chr2:50552780 [GRCh38]
Chr2:50779918 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1589C>A (p.Ala530Asp) single nucleotide variant not provided [RCV000188250] Chr2:50552757 [GRCh38]
Chr2:50779895 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1778C>T (p.Thr593Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000797439]|not provided [RCV000188252] Chr2:50538618 [GRCh38]
Chr2:50765756 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) single nucleotide variant Inborn genetic diseases [RCV002317130]|Pitt-Hopkins-like syndrome 2 [RCV000764447]|Pitt-Hopkins-like syndrome 2 [RCV000798181]|not provided [RCV000188256] Chr2:51027972 [GRCh38]
Chr2:51255110 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2036C>T (p.Pro679Leu) single nucleotide variant Inborn genetic diseases [RCV002317131]|Pitt-Hopkins-like syndrome 2 [RCV000799433]|not provided [RCV001705027]|not specified [RCV000188257] Chr2:50538360 [GRCh38]
Chr2:50765498 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2110G>A (p.Gly704Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000819138]|not provided [RCV000188258] Chr2:50538286 [GRCh38]
Chr2:50765424 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.219G>C (p.Glu73Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001060695]|not provided [RCV000188260] Chr2:51028055 [GRCh38]
Chr2:51255193 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) single nucleotide variant Inborn genetic diseases [RCV002317132]|Pitt-Hopkins-like syndrome 2 [RCV000764443]|Pitt-Hopkins-like syndrome 2 [RCV000810957]|not provided [RCV001705028]|not specified [RCV000188261] Chr2:50531384 [GRCh38]
Chr2:50758522 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2317G>A (p.Ala773Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001324119]|not provided [RCV000188263] Chr2:50531257 [GRCh38]
Chr2:50758395 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly) single nucleotide variant Inborn genetic diseases [RCV002426909]|Pitt-Hopkins-like syndrome 2 [RCV000765690]|Pitt-Hopkins-like syndrome 2 [RCV003509510]|not provided [RCV000188264] Chr2:51028012 [GRCh38]
Chr2:51255150 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.316G>A (p.Asp106Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001041325]|not specified [RCV000500819] Chr2:51027958 [GRCh38]
Chr2:51255096 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.374A>G (p.Asn125Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000701447]|not provided [RCV000188267] Chr2:51027900 [GRCh38]
Chr2:51255038 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.476C>T (p.Pro159Leu) single nucleotide variant Inborn genetic diseases [RCV002517003]|Pitt-Hopkins-like syndrome 2 [RCV000824466]|not provided [RCV000188268] Chr2:51027798 [GRCh38]
Chr2:51254936 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.497C>T (p.Ala166Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001908490] Chr2:51027777 [GRCh38]
Chr2:51254915 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2375-7T>A single nucleotide variant not provided [RCV000188270] Chr2:50506624 [GRCh38]
Chr2:50733762 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) single nucleotide variant Inborn genetic diseases [RCV002317133]|Pitt-Hopkins-like syndrome 2 [RCV000515422]|Pitt-Hopkins-like syndrome 2 [RCV000706193]|not provided [RCV000728599]|not specified [RCV000188271] Chr2:50506533 [GRCh38]
Chr2:50733671 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2497+3A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000802683]|not provided [RCV000725752]|not specified [RCV000188272] Chr2:50506492 [GRCh38]
Chr2:50733630 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.570C>A (p.Asn190Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000818582]|not provided [RCV000188274] Chr2:51027704 [GRCh38]
Chr2:51254842 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) single nucleotide variant Inborn genetic diseases [RCV002314734]|Pitt-Hopkins-like syndrome 2 [RCV000465496]|Pitt-Hopkins-like syndrome 2 [RCV000764442]|not provided [RCV000513409]|not specified [RCV000188275] Chr2:50497679 [GRCh38]
Chr2:50724817 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.749T>A (p.Phe250Tyr) single nucleotide variant Inborn genetic diseases [RCV002517004]|Pitt-Hopkins-like syndrome 2 [RCV001051150]|not provided [RCV000766527]|not specified [RCV000188276] Chr2:51027525 [GRCh38]
Chr2:51254663 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2785C>A (p.Leu929Ile) single nucleotide variant not provided [RCV000188283] Chr2:50497427 [GRCh38]
Chr2:50724565 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3032C>T (p.Thr1011Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000552360]|not provided [RCV000188286] Chr2:50495943 [GRCh38]
Chr2:50723081 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.637G>A (p.Gly213Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000813276]|not provided [RCV000766526]|not specified [RCV000188287] Chr2:51027637 [GRCh38]
Chr2:51254775 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.739C>G (p.Arg247Gly) single nucleotide variant Intellectual disability [RCV001257611]|Pitt-Hopkins-like syndrome 2 [RCV000792500]|not provided [RCV000188288] Chr2:51027535 [GRCh38]
Chr2:51254673 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3281A>G (p.Asn1094Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000529852]|not provided [RCV000188291] Chr2:50465525 [GRCh38]
Chr2:50692663 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.772+1040A>T single nucleotide variant Inborn genetic diseases [RCV002314735]|Pitt-Hopkins-like syndrome 2 [RCV000691824]|not provided [RCV001705029] Chr2:51026462 [GRCh38]
Chr2:51253600 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.772+1094A>C single nucleotide variant Inborn genetic diseases [RCV002433849]|Pitt-Hopkins-like syndrome 2 [RCV000798588] Chr2:51026408 [GRCh38]
Chr2:51253546 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3595G>A (p.Ala1199Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000559566]|not provided [RCV001721210] Chr2:50091446 [GRCh38]
Chr2:50318584 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3365-109939C>T single nucleotide variant Inborn genetic diseases [RCV002317134]|Pitt-Hopkins-like syndrome 2 [RCV000764441]|Pitt-Hopkins-like syndrome 2 [RCV001484117]|not provided [RCV000487952] Chr2:50346909 [GRCh38]
Chr2:50574047 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000689247]|Pitt-Hopkins-like syndrome 2 [RCV000764440] Chr2:50236928 [GRCh38]
Chr2:50464066 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3479A>G (p.Gln1160Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002514023]|not provided [RCV000188299] Chr2:50236856 [GRCh38]
Chr2:50463994 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000764439]|not provided [RCV000188300] Chr2:50236793 [GRCh38]
Chr2:50463931 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3905A>G (p.Tyr1302Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001857627]|not provided [RCV000188301] Chr2:50053494 [GRCh38]
Chr2:50280632 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4015A>C (p.Thr1339Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001345252] Chr2:50053384 [GRCh38]
Chr2:50280522 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000534805]|Pitt-Hopkins-like syndrome 2 [RCV002478659]|not provided [RCV002478658]|not specified [RCV000188306] Chr2:49922231 [GRCh38]
Chr2:50149369 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1541A>G (p.Asn514Ser) single nucleotide variant not provided [RCV000188308] Chr2:50552805 [GRCh38]
Chr2:50779943 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) single nucleotide variant Inborn genetic diseases [RCV002314736]|Pitt-Hopkins-like syndrome 2 [RCV000689938]|Pitt-Hopkins-like syndrome 2 [RCV000764444]|not provided [RCV000188309] Chr2:50538418 [GRCh38]
Chr2:50765556 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.407A>G (p.Lys136Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001223877]|not provided [RCV000188311] Chr2:51027867 [GRCh38]
Chr2:51255005 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2422G>A (p.Glu808Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001852480]|not provided [RCV000188312] Chr2:50506570 [GRCh38]
Chr2:50733708 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.587C>T (p.Pro196Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000815563]|not provided [RCV001705030] Chr2:51027687 [GRCh38]
Chr2:51254825 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile) single nucleotide variant Inborn genetic diseases [RCV000190702]|Pitt-Hopkins-like syndrome 2 [RCV001080620]|not provided [RCV000656931]|not specified [RCV000188315] Chr2:50053395 [GRCh38]
Chr2:50280533 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000764438]|Pitt-Hopkins-like syndrome 2 [RCV001088709]|not provided [RCV000725076] Chr2:50053388 [GRCh38]
Chr2:50280526 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3365-110131T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000209863]|not provided [RCV001574910] Chr2:50347101 [GRCh38]
Chr2:50574239 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225398] Chr2:50786446..51225851 [NCBI36]
Chr2:2p16.3
uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225410] Chr2:51088030..51325532 [NCBI36]
Chr2:2p16.3
uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225430] Chr2:50885246..51112391 [NCBI36]
Chr2:2p16.3
uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225516] Chr2:50862736..51080758 [NCBI36]
Chr2:2p16.3
uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225540] Chr2:50968208..51120644 [NCBI36]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.724G>C (p.Val242Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000228333] Chr2:51027550 [GRCh38]
Chr2:51254688 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2829A>G (p.Leu943=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000227099] Chr2:50497383 [GRCh38]
Chr2:50724521 [GRCh37]
Chr2:2p16.3
likely benign
GRCh37/hg19 2p16.3(chr2:51083410-51382872)x1 copy number loss See cases [RCV000239936] Chr2:51083410..51382872 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.3364+13144G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000626017] Chr2:50452298 [GRCh38]
Chr2:50679436 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3654G>C (p.Thr1218=) single nucleotide variant not specified [RCV000600285] Chr2:50091387 [GRCh38]
Chr2:50318525 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2144-4C>A single nucleotide variant not specified [RCV000605389] Chr2:50531434 [GRCh38]
Chr2:50758572 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1850G>C (p.Gly617Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003766972]|not provided [RCV000519372] Chr2:50538546 [GRCh38]
Chr2:50765684 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.-1461_-1452dupCTCTCTCTCT microsatellite Pitt-Hopkins-like syndrome [RCV000280832]|not provided [RCV003418057] Chr2:51032510..51032511 [GRCh38]
Chr2:51259648..51259649 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.252G>A (p.Thr84=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001079005]|not provided [RCV000304707] Chr2:51028022 [GRCh38]
Chr2:51255160 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.*1524T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000259315] Chr2:49920420 [GRCh38]
Chr2:50147558 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3364+9C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000270547] Chr2:50465433 [GRCh38]
Chr2:50692571 [GRCh37]
Chr2:2p16.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.*2766A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000281477] Chr2:49919178 [GRCh38]
Chr2:50146316 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_138735.4(NRXN1):c.49[5] (p.Gly17[5]) microsatellite Inborn genetic diseases [RCV002311408]|NRXN1-related disorder [RCV004535402]|not provided [RCV001711860]|not specified [RCV000278186] Chr2:50346871..50346885 [GRCh38]
Chr2:50574010 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.1288G>A (p.Val430Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001351650]|not provided [RCV000278241] Chr2:50620054 [GRCh38]
Chr2:50847192 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.315C>T (p.Ala105=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000261922]|not provided [RCV003418055] Chr2:51027959 [GRCh38]
Chr2:51255097 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.*573A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000261858] Chr2:49921371 [GRCh38]
Chr2:50148509 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.609_610delinsCA (p.Lys203_Leu204delinsAsnMet) indel Pitt-Hopkins-like syndrome 2 [RCV001057033]|not provided [RCV000281400] Chr2:51027664..51027665 [GRCh38]
Chr2:51254802..51254803 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.609G>C (p.Lys203Asn) single nucleotide variant Inborn genetic diseases [RCV002356370]|Pitt-Hopkins-like syndrome 2 [RCV001859569]|not provided [RCV000315312] Chr2:51027665 [GRCh38]
Chr2:51254803 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2249G>A (p.Arg750His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001855131]|not provided [RCV000287218] Chr2:50531325 [GRCh38]
Chr2:50758463 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-644A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000275652] Chr2:51028917 [GRCh38]
Chr2:51256055 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3103A>G (p.Thr1035Ala) single nucleotide variant Inborn genetic diseases [RCV004021228]|Pitt-Hopkins-like syndrome 2 [RCV000817074]|not provided [RCV000726048] Chr2:50472439 [GRCh38]
Chr2:50699577 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1730A>G (p.His577Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003765625]|not provided [RCV000395113] Chr2:50552616 [GRCh38]
Chr2:50779754 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2222A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000265322] Chr2:49919722 [GRCh38]
Chr2:50146860 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_004801.5(NRXN1):c.-1452_-1447delTTTCTT deletion Pitt-Hopkins-like syndrome [RCV000265591] Chr2:51032505..51032510 [GRCh38]
Chr2:51259643..51259648 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-883T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000276312]|not provided [RCV000830073] Chr2:51029156 [GRCh38]
Chr2:51256294 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.*383A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000277013] Chr2:49921561 [GRCh38]
Chr2:50148699 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3403A>G (p.Ile1135Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001303278]|not provided [RCV000361626] Chr2:50236932 [GRCh38]
Chr2:50464070 [GRCh37]
Chr2:2p16.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3245-2A>G single nucleotide variant not provided [RCV000397801] Chr2:50465563 [GRCh38]
Chr2:50692701 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.610C>A (p.Leu204Met) single nucleotide variant Inborn genetic diseases [RCV002356369]|not provided [RCV000401095] Chr2:51027664 [GRCh38]
Chr2:51254802 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.-1455_-1452dupCTCT microsatellite Pitt-Hopkins-like syndrome [RCV000266901] Chr2:51032510..51032511 [GRCh38]
Chr2:51259648..51259649 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.-1255C>G single nucleotide variant Pitt-Hopkins-like syndrome [RCV000278307] Chr2:51032314 [GRCh38]
Chr2:51259452 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7]) microsatellite Inborn genetic diseases [RCV002311399]|NRXN1-related disorder [RCV004542972]|not provided [RCV001711849]|not specified [RCV000366083] Chr2:50346871..50346879 [GRCh38]
Chr2:50574010 [GRCh37]
Chr2:2p16.3
benign|likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2698A>C (p.Arg900=) single nucleotide variant Inborn genetic diseases [RCV002436204]|Pitt-Hopkins-like syndrome 2 [RCV000267729] Chr2:50497514 [GRCh38]
Chr2:50724652 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.1286C>T (p.Pro429Leu) single nucleotide variant not provided [RCV000266060] Chr2:50620056 [GRCh38]
Chr2:50847194 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) microsatellite Inborn genetic diseases [RCV002317802]|NRXN1-related disorder [RCV004543007]|Pitt-Hopkins-like syndrome 2 [RCV001080228]|Pitt-Hopkins-like syndrome 2 [RCV003227737]|not provided [RCV000266728] Chr2:50346872 [GRCh38]
Chr2:50574008..50574009 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2498-8T>C single nucleotide variant not provided [RCV000368014] Chr2:50497722 [GRCh38]
Chr2:50724860 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*3278T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000268601] Chr2:49918666 [GRCh38]
Chr2:50145804 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*98A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000268658] Chr2:49921846 [GRCh38]
Chr2:50148984 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2535C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000279890] Chr2:49919409 [GRCh38]
Chr2:50146547 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.-1381G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000268953] Chr2:51032440 [GRCh38]
Chr2:51259578 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2375-10T>A single nucleotide variant not provided [RCV000489238] Chr2:50506627 [GRCh38]
Chr2:50733765 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.417G>A (p.Glu139=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000548362]|not provided [RCV001618731] Chr2:51027857 [GRCh38]
Chr2:51254995 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.2526G>A (p.Leu842=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000525947] Chr2:50497686 [GRCh38]
Chr2:50724824 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2713G>A (p.Asp905Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000531661]|not provided [RCV001799683] Chr2:50497499 [GRCh38]
Chr2:50724637 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2143+76A>G single nucleotide variant not provided [RCV001566796] Chr2:50538177 [GRCh38]
Chr2:50765315 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2120A>C (p.Tyr707Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141663]|not provided [RCV000489835] Chr2:50538276 [GRCh38]
Chr2:50765414 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.339C>T (p.Ala113=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001408122]|not provided [RCV000488194] Chr2:51027935 [GRCh38]
Chr2:51255073 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2247G>C (p.Gln749His) single nucleotide variant not provided [RCV003315032] Chr2:50531327 [GRCh38]
Chr2:50758465 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2006A>T (p.Lys669Met) single nucleotide variant Inborn genetic diseases [RCV003267785] Chr2:50538390 [GRCh38]
Chr2:50765528 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*941dup duplication Pitt-Hopkins-like syndrome [RCV000302239] Chr2:49921002..49921003 [GRCh38]
Chr2:50148140..50148141 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.*1201AC[20] microsatellite Pitt-Hopkins-like syndrome [RCV000330103] Chr2:49920698..49920703 [GRCh38]
Chr2:50147836..50147841 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.-1475_-1474insACTCTC microsatellite Pitt-Hopkins-like syndrome [RCV000345033] Chr2:51032533..51032534 [GRCh38]
Chr2:51259671..51259672 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.-1453_-1452dupCT microsatellite Pitt-Hopkins-like syndrome [RCV000380036] Chr2:51032510..51032511 [GRCh38]
Chr2:51259648..51259649 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*967_*970dup duplication Pitt-Hopkins-like syndrome [RCV000398715] Chr2:49920973..49920974 [GRCh38]
Chr2:50148111..50148112 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.-422C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000398779] Chr2:51028695 [GRCh38]
Chr2:51255833 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-557C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000399122] Chr2:51028830 [GRCh38]
Chr2:51255968 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-747C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000330703] Chr2:51029020 [GRCh38]
Chr2:51256158 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2373G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000362933] Chr2:49919571 [GRCh38]
Chr2:50146709 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-951T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000381367] Chr2:51032010 [GRCh38]
Chr2:51259148 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.*814G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000399645] Chr2:49921130 [GRCh38]
Chr2:50148268 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2384del deletion Pitt-Hopkins-like syndrome [RCV000400472] Chr2:49919560 [GRCh38]
Chr2:50146698 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2387_*2389dup duplication Pitt-Hopkins-like syndrome [RCV000292815] Chr2:49919554..49919555 [GRCh38]
Chr2:50146692..50146693 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-232T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000347128] Chr2:51028505 [GRCh38]
Chr2:51255643 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.-1373C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000363612] Chr2:51032432 [GRCh38]
Chr2:51259570 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*110G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649755]|not provided [RCV001672583] Chr2:49921834 [GRCh38]
Chr2:50148972 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.-217C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000381980] Chr2:51028490 [GRCh38]
Chr2:51255628 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001135659.1(NRXN1):c.-1457_-1452dupCTCTCT microsatellite Pitt-Hopkins-like syndrome [RCV000317391] Chr2:51032510..51032511 [GRCh38]
Chr2:51259648..51259649 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*319T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000332103] Chr2:49921625 [GRCh38]
Chr2:50148763 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-209A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000332175] Chr2:51028482 [GRCh38]
Chr2:51255620 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.*1195A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000347611] Chr2:49920749 [GRCh38]
Chr2:50147887 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.752G>A (p.Arg251His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000364833]|not provided [RCV000728207] Chr2:51027522 [GRCh38]
Chr2:51254660 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_004801.5(NRXN1):c.-1454_-1451TCTT[2] microsatellite Pitt-Hopkins-like syndrome [RCV000364932] Chr2:51032500..51032503 [GRCh38]
Chr2:51259638..51259641 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.-1457_-1452delCTCTCT microsatellite Pitt-Hopkins-like syndrome [RCV000293632] Chr2:51032511..51032516 [GRCh38]
Chr2:51259649..51259654 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2286C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000305318] Chr2:49919658 [GRCh38]
Chr2:50146796 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*1911G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000318011] Chr2:49920033 [GRCh38]
Chr2:50147171 [GRCh37]
Chr2:2p16.3
benign
NM_001135659.2(NRXN1):c.-1310G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000348328] Chr2:51032369 [GRCh38]
Chr2:51259507 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1163C>T (p.Thr388Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000348696] Chr2:50620179 [GRCh38]
Chr2:50847317 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3237A>G (p.Gly1079=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000366377] Chr2:50472305 [GRCh38]
Chr2:50699443 [GRCh37]
Chr2:2p16.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001135659.2(NRXN1):c.-1103T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000283643] Chr2:51032162 [GRCh38]
Chr2:51259300 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.-1455C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000306400] Chr2:51032514 [GRCh38]
Chr2:51259652 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*385G>A single nucleotide variant Pitt-Hopkins-like syndrome [RCV000366986] Chr2:49921559 [GRCh38]
Chr2:50148697 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-282G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000284000] Chr2:51028555 [GRCh38]
Chr2:51255693 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2672_*2675dup duplication Pitt-Hopkins-like syndrome [RCV000320127] Chr2:49919268..49919269 [GRCh38]
Chr2:50146406..50146407 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4060A>T (p.Thr1354Ser) single nucleotide variant Inborn genetic diseases [RCV002328862]|Pitt-Hopkins-like syndrome 2 [RCV000649756]|Pitt-Hopkins-like syndrome [RCV000335433]|not provided [RCV001582981] Chr2:50053339 [GRCh38]
Chr2:50280477 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.*2384dup duplication Pitt-Hopkins-like syndrome [RCV000350199] Chr2:49919559..49919560 [GRCh38]
Chr2:50146697..50146698 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3552G>C (p.Gln1184His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000350502] Chr2:50091489 [GRCh38]
Chr2:50318627 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.-1463_-1452delCTCTCTCTCTCT microsatellite Pitt-Hopkins-like syndrome [RCV000350915] Chr2:51032511..51032522 [GRCh38]
Chr2:51259649..51259660 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*1201AC[18] microsatellite Pitt-Hopkins-like syndrome [RCV000387012] Chr2:49920698..49920707 [GRCh38]
Chr2:50147836..50147845 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-193C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000295876] Chr2:51028466 [GRCh38]
Chr2:51255604 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*1201AC[25] microsatellite Pitt-Hopkins-like syndrome [RCV000296123] Chr2:49920697..49920698 [GRCh38]
Chr2:50147835..50147836 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_004801.5(NRXN1):c.-1460_-1451delTCTCTCTCTT deletion Pitt-Hopkins-like syndrome [RCV000320825]|not provided [RCV003418056] Chr2:51032507..51032516 [GRCh38]
Chr2:51259645..51259654 [GRCh37]
Chr2:2p16.3
benign|uncertain significance
NM_001330078.2(NRXN1):c.*3123C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000321383] Chr2:49918821 [GRCh38]
Chr2:50145959 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2514A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000351275] Chr2:49919430 [GRCh38]
Chr2:50146568 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3384T>C (p.Phe1128=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000369791]|not provided [RCV001718712] Chr2:50236951 [GRCh38]
Chr2:50464089 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.*1201AC[24] microsatellite Pitt-Hopkins-like syndrome [RCV000388078] Chr2:49920697..49920698 [GRCh38]
Chr2:50147835..50147836 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-813A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000370874] Chr2:51029086 [GRCh38]
Chr2:51256224 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1760-13C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000337793] Chr2:50538649 [GRCh38]
Chr2:50765787 [GRCh37]
Chr2:2p16.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001135659.2(NRXN1):c.-1263G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000338021] Chr2:51032322 [GRCh38]
Chr2:51259460 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.-1453_-1452delCT microsatellite Pitt-Hopkins-like syndrome [RCV000338168] Chr2:51032511..51032512 [GRCh38]
Chr2:51259649..51259650 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*613del deletion Pitt-Hopkins-like syndrome [RCV000353702] Chr2:49921331 [GRCh38]
Chr2:50148469 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.1(NRXN1):c.-1459_-1452dupCTCTCTCT microsatellite Pitt-Hopkins-like syndrome [RCV000372072] Chr2:51032510..51032511 [GRCh38]
Chr2:51259648..51259649 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2629A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000372459] Chr2:49919315 [GRCh38]
Chr2:50146453 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.-1334C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000390220] Chr2:51032393 [GRCh38]
Chr2:51259531 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.-1395G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000310084] Chr2:51032454 [GRCh38]
Chr2:51259592 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.772+1032G>A single nucleotide variant NRXN1-related disorder [RCV004530374]|Pitt-Hopkins-like syndrome 2 [RCV000310309]|not provided [RCV001753801] Chr2:51026470 [GRCh38]
Chr2:51253608 [GRCh37]
Chr2:2p16.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.-421A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000339081]|not provided [RCV001636942] Chr2:51028694 [GRCh38]
Chr2:51255832 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.-465T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000354980] Chr2:51028738 [GRCh38]
Chr2:51255876 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.-1219C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000372830] Chr2:51032278 [GRCh38]
Chr2:51259416 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000373872]|Pitt-Hopkins-like syndrome 2 [RCV002488723] Chr2:50552800 [GRCh38]
Chr2:50779938 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2372G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000391503] Chr2:49919572 [GRCh38]
Chr2:50146710 [GRCh37]
Chr2:2p16.3
benign|uncertain significance
NM_001330078.2(NRXN1):c.772+6G>C single nucleotide variant not specified [RCV000604314] Chr2:51027496 [GRCh38]
Chr2:51254634 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.*2377T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000310530] Chr2:49919567 [GRCh38]
Chr2:50146705 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*1723_*1724del deletion Pitt-Hopkins-like syndrome [RCV000356496] Chr2:49920220..49920221 [GRCh38]
Chr2:50147358..50147359 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-602G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000356328]|not provided [RCV000829961] Chr2:51028875 [GRCh38]
Chr2:51256013 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.*2511G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000393386] Chr2:49919433 [GRCh38]
Chr2:50146571 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.*1049TTCTT[1] microsatellite Pitt-Hopkins-like syndrome [RCV000289069] Chr2:49920886..49920890 [GRCh38]
Chr2:50148024..50148028 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*878_*879dup duplication Pitt-Hopkins-like syndrome [RCV000340756] Chr2:49921064..49921065 [GRCh38]
Chr2:50148202..50148203 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.492C>T (p.Ala164=) single nucleotide variant NRXN1-related disorder [RCV004544629]|Pitt-Hopkins-like syndrome 2 [RCV000357139] Chr2:51027782 [GRCh38]
Chr2:51254920 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.*2277G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000357703] Chr2:49919667 [GRCh38]
Chr2:50146805 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3646C>T (p.Arg1216Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000300196] Chr2:50091395 [GRCh38]
Chr2:50318533 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.-1273G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000312102]|not provided [RCV003422322] Chr2:51032332 [GRCh38]
Chr2:51259470 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.*435T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000312357] Chr2:49921509 [GRCh38]
Chr2:50148647 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*3387_*3391dup duplication Pitt-Hopkins-like syndrome [RCV000327123] Chr2:49918552..49918553 [GRCh38]
Chr2:50145690..50145691 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.-1122C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000341497] Chr2:51032181 [GRCh38]
Chr2:51259319 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*1019G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000341922] Chr2:49920925 [GRCh38]
Chr2:50148063 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*1201AC[17] microsatellite Pitt-Hopkins-like syndrome [RCV000290327] Chr2:49920698..49920709 [GRCh38]
Chr2:50147836..50147847 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*620A>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000301131] Chr2:49921324 [GRCh38]
Chr2:50148462 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2835T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000378095] Chr2:49919109 [GRCh38]
Chr2:50146247 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-1057C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000378129] Chr2:51032116 [GRCh38]
Chr2:51259254 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-563G>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000301456]|not provided [RCV001711953] Chr2:51028836 [GRCh38]
Chr2:51255974 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_004801.5(NRXN1):c.-1371dup duplication Pitt-Hopkins-like syndrome [RCV000313624] Chr2:51032425..51032426 [GRCh38]
Chr2:51259563..51259564 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.521T>C (p.Val174Ala) single nucleotide variant Inborn genetic diseases [RCV002338937]|Pitt-Hopkins-like syndrome 2 [RCV000360392]|not provided [RCV001582982] Chr2:51027753 [GRCh38]
Chr2:51254891 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*3346T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000360844] Chr2:49918598 [GRCh38]
Chr2:50145736 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001135659.2(NRXN1):c.-1270A>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000397099]|not provided [RCV001576635] Chr2:51032329 [GRCh38]
Chr2:51259467 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001135659.2(NRXN1):c.-1451T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001139366] Chr2:51032510 [GRCh38]
Chr2:51259648 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2386A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001138842] Chr2:49919558 [GRCh38]
Chr2:50146696 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*2298C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001138843] Chr2:49919646 [GRCh38]
Chr2:50146784 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.588C>A (p.Pro196=) single nucleotide variant not provided [RCV000592443] Chr2:51027686 [GRCh38]
Chr2:51254824 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) single nucleotide variant Inborn genetic diseases [RCV002358666]|Pitt-Hopkins-like syndrome 2 [RCV000768037]|Pitt-Hopkins-like syndrome 2 [RCV001080918]|not provided [RCV000598907] Chr2:51027674 [GRCh38]
Chr2:51254812 [GRCh37]
Chr2:2p16.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.2488G>C (p.Ala830Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000554189] Chr2:50506504 [GRCh38]
Chr2:50733642 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3757C>T (p.Arg1253Ter) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001857997]|not provided [RCV000523187] Chr2:50055006 [GRCh38]
Chr2:50282144 [GRCh37]
Chr2:2p16.3
pathogenic|likely pathogenic
NM_001330078.2(NRXN1):c.1996G>A (p.Ala666Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000550700] Chr2:50538400 [GRCh38]
Chr2:50765538 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4173_4188delinsGTGTCCCTAA (p.Asp1391_Asp1396delinsGluCysProTer) indel not provided [RCV000599481]|not specified [RCV003387896] Chr2:49943732..49943747 [GRCh38]
Chr2:50170870..50170885 [GRCh37]
Chr2:2p16.3
likely pathogenic|uncertain significance
NM_001330078.2(NRXN1):c.1779G>A (p.Thr593=) single nucleotide variant Inborn genetic diseases [RCV002413760]|NRXN1-related disorder [RCV004544792]|Pitt-Hopkins-like syndrome 2 [RCV001433097]|not specified [RCV000603429] Chr2:50538617 [GRCh38]
Chr2:50765755 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3039C>G (p.Ile1013Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000624080] Chr2:50495936 [GRCh38]
Chr2:50723074 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4002G>A (p.Met1334Ile) single nucleotide variant not provided [RCV000584966] Chr2:50053397 [GRCh38]
Chr2:50280535 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.192C>T (p.Arg64=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002062039]|not provided [RCV000598237] Chr2:51028082 [GRCh38]
Chr2:51255220 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.805A>T (p.Met269Leu) single nucleotide variant Inborn genetic diseases [RCV003258805]|Pitt-Hopkins-like syndrome 2 [RCV001203909]|not provided [RCV000414234] Chr2:50922673 [GRCh38]
Chr2:51149811 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.779A>G (p.Asn260Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001246634]|not provided [RCV000731065] Chr2:50925949 [GRCh38]
Chr2:51153087 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.772+1043C>G single nucleotide variant not provided [RCV000732172] Chr2:51026459 [GRCh38]
Chr2:51253597 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3307G>T (p.Asp1103Tyr) single nucleotide variant not provided [RCV000733226] Chr2:50465499 [GRCh38]
Chr2:50692637 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1679C>A (p.Thr560Asn) single nucleotide variant Inborn genetic diseases [RCV002530196]|Pitt-Hopkins-like syndrome 2 [RCV000537930] Chr2:50552667 [GRCh38]
Chr2:50779805 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.744C>T (p.Thr248=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001431795]|not provided [RCV000734136] Chr2:51027530 [GRCh38]
Chr2:51254668 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.276C>T (p.Ser92=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000555673] Chr2:51027998 [GRCh38]
Chr2:51255136 [GRCh37]
Chr2:2p16.3
likely benign
GRCh37/hg19 2p16.3(chr2:51153883-51326497)x1 copy number loss not provided [RCV000752950] Chr2:51153883..51326497 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.773-1G>T single nucleotide variant Intellectual disability [RCV000790431] Chr2:50925956 [GRCh38]
Chr2:51153094 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.150C>G (p.Cys50Trp) single nucleotide variant not specified [RCV000413417] Chr2:51028124 [GRCh38]
Chr2:51255262 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2843A>G (p.Asp948Gly) single nucleotide variant not specified [RCV000413432] Chr2:50497369 [GRCh38]
Chr2:50724507 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3365-109977G>A single nucleotide variant not specified [RCV000413856] Chr2:50346947 [GRCh38]
Chr2:50574085 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:51234059-51263065)x1 copy number loss See cases [RCV000449105] Chr2:51234059..51263065 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:51193626-51382813)x1 copy number loss See cases [RCV000449436] Chr2:51193626..51382813 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p16.3(chr2:50964034-51915187)x1 copy number loss See cases [RCV000449294] Chr2:50964034..51915187 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:50847100-50847341)x3 copy number gain See cases [RCV000446830] Chr2:50847100..50847341 [GRCh37]
Chr2:2p16.3
benign|likely benign
GRCh37/hg19 2p16.3(chr2:50838594-51119793)x1 copy number loss See cases [RCV000446727] Chr2:50838594..51119793 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:50959192-51402934)x1 copy number loss See cases [RCV000447055] Chr2:50959192..51402934 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:50281917-50282100)x3 copy number gain See cases [RCV000446257] Chr2:50281917..50282100 [GRCh37]
Chr2:2p16.3
benign
GRCh37/hg19 2p16.3(chr2:51083410-51314371)x1 copy number loss See cases [RCV000447523] Chr2:51083410..51314371 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.2391T>A (p.Thr797=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002063614]|not specified [RCV000427138] Chr2:50506601 [GRCh38]
Chr2:50733739 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2893G>T (p.Val965Leu) single nucleotide variant not provided [RCV000437711] Chr2:50496082 [GRCh38]
Chr2:50723220 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.583C>T (p.Leu195=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000898686]|not provided [RCV001720228] Chr2:51027691 [GRCh38]
Chr2:51254829 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-109897G>C single nucleotide variant Inborn genetic diseases [RCV002314154]|not provided [RCV000441448] Chr2:50346867 [GRCh38]
Chr2:50574005 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.324G>A (p.Pro108=) single nucleotide variant NRXN1-related disorder [RCV004530540]|Pitt-Hopkins-like syndrome 2 [RCV000649750]|not specified [RCV000444941] Chr2:51027950 [GRCh38]
Chr2:51255088 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.4107G>A (p.Pro1369=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649759]|not provided [RCV001720178] Chr2:50053292 [GRCh38]
Chr2:50280430 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.723C>G (p.Ala241=) single nucleotide variant Inborn genetic diseases [RCV002318389]|Pitt-Hopkins-like syndrome 2 [RCV000868312]|not specified [RCV000423843] Chr2:51027551 [GRCh38]
Chr2:51254689 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.93G>T (p.Leu31=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001429172]|not specified [RCV000423883] Chr2:51028181 [GRCh38]
Chr2:51255319 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1696C>T (p.Leu566=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002522477]|not specified [RCV000424035] Chr2:50552650 [GRCh38]
Chr2:50779788 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.772+1015C>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002061451]|not specified [RCV000434532] Chr2:51026487 [GRCh38]
Chr2:51253625 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.684C>T (p.Cys228=) single nucleotide variant not specified [RCV000421025] Chr2:51027590 [GRCh38]
Chr2:51254728 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.159G>A (p.Glu53=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619680]|not specified [RCV000434711] Chr2:51028115 [GRCh38]
Chr2:51255253 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.832+14T>G single nucleotide variant not specified [RCV000438082] Chr2:50921855 [GRCh38]
Chr2:51148993 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1869T>G (p.Ala623=) single nucleotide variant not specified [RCV000438110] Chr2:50538527 [GRCh38]
Chr2:50765665 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3330T>C (p.Ser1110=) single nucleotide variant not specified [RCV000438180] Chr2:50465476 [GRCh38]
Chr2:50692614 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1760-11C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002059813]|not provided [RCV001704439] Chr2:50538647 [GRCh38]
Chr2:50765785 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.1715A>G (p.Asp572Gly) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000680051] Chr2:50552631 [GRCh38]
Chr2:50779769 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:50937444-50970662)x1 copy number loss See cases [RCV000445882] Chr2:50937444..50970662 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2210C>T (p.Thr737Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001368422]|not provided [RCV000418662] Chr2:50531364 [GRCh38]
Chr2:50758502 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3365-109863C>T single nucleotide variant not specified [RCV000418724] Chr2:50346833 [GRCh38]
Chr2:50573971 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2316C>T (p.Asp772=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001464814]|not specified [RCV000424850] Chr2:50531258 [GRCh38]
Chr2:50758396 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3228C>A (p.Ile1076=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509531]|not specified [RCV000428338] Chr2:50472314 [GRCh38]
Chr2:50699452 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.-22C>A single nucleotide variant not specified [RCV000438731] Chr2:51028295 [GRCh38]
Chr2:51255433 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1194G>A (p.Thr398=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001316184]|not specified [RCV000438772] Chr2:50620148 [GRCh38]
Chr2:50847286 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.273C>T (p.Leu91=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002061450]|not provided [RCV001703474] Chr2:51028001 [GRCh38]
Chr2:51255139 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-109836G>A single nucleotide variant not specified [RCV000435599] Chr2:50346806 [GRCh38]
Chr2:50573944 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3245-4G>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001429903]|not provided [RCV000726769] Chr2:50465565 [GRCh38]
Chr2:50692703 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.864A>G (p.Gly288=) single nucleotide variant Inborn genetic diseases [RCV002379336]|NRXN1-related disorder [RCV004533023]|Pitt-Hopkins-like syndrome 2 [RCV000649749]|not specified [RCV000419068] Chr2:50623584 [GRCh38]
Chr2:50850722 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.-7C>A single nucleotide variant not specified [RCV000425144] Chr2:51028280 [GRCh38]
Chr2:51255418 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3244+18T>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002521756]|not specified [RCV000425204] Chr2:50472280 [GRCh38]
Chr2:50699418 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.4428A>G (p.Ala1476=) single nucleotide variant Inborn genetic diseases [RCV002328959]|Pitt-Hopkins-like syndrome 2 [RCV000878786]|not provided [RCV001720213] Chr2:49922040 [GRCh38]
Chr2:50149178 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.321G>T (p.Thr107=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001446055]|not specified [RCV000432188] Chr2:51027953 [GRCh38]
Chr2:51255091 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.300T>G (p.Pro100=) single nucleotide variant Inborn genetic diseases [RCV002318414]|Pitt-Hopkins-like syndrome 2 [RCV001485103]|not specified [RCV000439327] Chr2:51027974 [GRCh38]
Chr2:51255112 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.6G>T (p.Gly2=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001861601]|not specified [RCV000425464] Chr2:51028268 [GRCh38]
Chr2:51255406 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3071-17C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509535]|not specified [RCV000429138] Chr2:50472488 [GRCh38]
Chr2:50699626 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2196C>T (p.Pro732=) single nucleotide variant Inborn genetic diseases [RCV002429362]|NRXN1-related disorder [RCV004539774]|Pitt-Hopkins-like syndrome 2 [RCV001466176]|not provided [RCV001703477] Chr2:50531378 [GRCh38]
Chr2:50758516 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3672C>A (p.Ala1224=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001470977]|not provided [RCV000871100] Chr2:50091369 [GRCh38]
Chr2:50318507 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3717A>T (p.Ala1239=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001341452]|not specified [RCV000422271] Chr2:50091324 [GRCh38]
Chr2:50318462 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2244C>G (p.Ser748=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000870642]|not provided [RCV001718855] Chr2:50531330 [GRCh38]
Chr2:50758468 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2983A>C (p.Arg995=) single nucleotide variant not specified [RCV000436204] Chr2:50495992 [GRCh38]
Chr2:50723130 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2832T>G (p.Tyr944Ter) single nucleotide variant not provided [RCV000427988] Chr2:50497380 [GRCh38]
Chr2:50724518 [GRCh37]
Chr2:2p16.3
likely pathogenic
NM_001330078.2(NRXN1):c.*13A>C single nucleotide variant not specified [RCV000419708] Chr2:49921931 [GRCh38]
Chr2:50149069 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-110016C>T single nucleotide variant not specified [RCV000439908] Chr2:50346986 [GRCh38]
Chr2:50574124 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-109899A>G single nucleotide variant Inborn genetic diseases [RCV002314153]|Pitt-Hopkins-like syndrome 2 [RCV002502477]|not provided [RCV001718856] Chr2:50346869 [GRCh38]
Chr2:50574007 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-109836G>T single nucleotide variant Inborn genetic diseases [RCV002318480]|not specified [RCV000420089] Chr2:50346806 [GRCh38]
Chr2:50573944 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2247G>A (p.Gln749=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002525340]|not specified [RCV000422558] Chr2:50531327 [GRCh38]
Chr2:50758465 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1134+8C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000535239]|not specified [RCV000426249] Chr2:50623306 [GRCh38]
Chr2:50850444 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001087630]|not provided [RCV000732176] Chr2:50236846 [GRCh38]
Chr2:50463984 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.3030A>G (p.Thr1010=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000861922]|not provided [RCV001703478] Chr2:50495945 [GRCh38]
Chr2:50723083 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1338T>C (p.Asn446=) single nucleotide variant not specified [RCV000426309] Chr2:50553008 [GRCh38]
Chr2:50780146 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.*1T>A single nucleotide variant not specified [RCV000430066] Chr2:49921943 [GRCh38]
Chr2:50149081 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.-906A>C single nucleotide variant not specified [RCV000433433] Chr2:51029179 [GRCh38]
Chr2:51256317 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=) single nucleotide variant Inborn genetic diseases [RCV002374630]|NRXN1-related disorder [RCV004539775]|Pitt-Hopkins-like syndrome 2 [RCV000472283]|Pitt-Hopkins-like syndrome 2 [RCV002502478]|not provided [RCV001718857] Chr2:49943744 [GRCh38]
Chr2:50170882 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-109912G>A single nucleotide variant not provided [RCV000440378] Chr2:50346882 [GRCh38]
Chr2:50574020 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.833-5T>G single nucleotide variant Inborn genetic diseases [RCV002314152]|Pitt-Hopkins-like syndrome 2 [RCV000649754]|not provided [RCV001703475] Chr2:50623620 [GRCh38]
Chr2:50850758 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.4217-13C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002061452]|not specified [RCV000423123] Chr2:49922264 [GRCh38]
Chr2:50149402 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.108C>T (p.Ala36=) single nucleotide variant Inborn genetic diseases [RCV002446662]|Pitt-Hopkins-like syndrome 2 [RCV000546560]|not provided [RCV001712207] Chr2:51028166 [GRCh38]
Chr2:51255304 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3718+11G>A single nucleotide variant not specified [RCV000430316] Chr2:50091312 [GRCh38]
Chr2:50318450 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1218C>A (p.Thr406=) single nucleotide variant not provided [RCV001703476] Chr2:50620124 [GRCh38]
Chr2:50847262 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.726G>A (p.Val242=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001400555]|not provided [RCV000540865] Chr2:51027548 [GRCh38]
Chr2:51254686 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1307G>A (p.Gly436Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002524784]|not provided [RCV000444220] Chr2:50620035 [GRCh38]
Chr2:50847173 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:51107486-51375539)x1 copy number loss See cases [RCV000445698] Chr2:51107486..51375539 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.1050C>G (p.Ala350=) single nucleotide variant Inborn genetic diseases [RCV002318467]|NRXN1-related disorder [RCV004539861]|Pitt-Hopkins-like syndrome 2 [RCV000863085]|not specified [RCV000426869] Chr2:50623398 [GRCh38]
Chr2:50850536 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3547-18T>C single nucleotide variant not specified [RCV000433875] Chr2:50091512 [GRCh38]
Chr2:50318650 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2109C>T (p.Ser703=) single nucleotide variant Inborn genetic diseases [RCV002429361]|Pitt-Hopkins-like syndrome 2 [RCV000933306]|not provided [RCV003418112]|not specified [RCV000426996] Chr2:50538287 [GRCh38]
Chr2:50765425 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.3365-109897G>T single nucleotide variant not provided [RCV000430708] Chr2:50346867 [GRCh38]
Chr2:50574005 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1760-8T>C single nucleotide variant not specified [RCV000430779] Chr2:50538644 [GRCh38]
Chr2:50765782 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2782C>T (p.His928Tyr) single nucleotide variant not provided [RCV000430812] Chr2:50497430 [GRCh38]
Chr2:50724568 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3547-2A>G single nucleotide variant not provided [RCV000441331] Chr2:50091496 [GRCh38]
Chr2:50318634 [GRCh37]
Chr2:2p16.3
likely pathogenic
Single allele deletion Autism spectrum disorder [RCV000225620] Chr2:50882166..51255180 [NCBI36]
Chr2:2p16.3
likely pathogenic|uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225633] Chr2:51033960..51299436 [NCBI36]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:50516550-51259738)x1 copy number loss See cases [RCV000239923] Chr2:50516550..51259738 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.2414A>G (p.Asn805Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001853671]|not provided [RCV000519365] Chr2:50506578 [GRCh38]
Chr2:50733716 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:51148483-51259200)x1 copy number loss See cases [RCV000240363] Chr2:51148483..51259200 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001330078.2(NRXN1):c.-1011G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000291983] Chr2:51032070 [GRCh38]
Chr2:51259208 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-453T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000304851] Chr2:51028726 [GRCh38]
Chr2:51255864 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*1327C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000316854] Chr2:49920617 [GRCh38]
Chr2:50147755 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3532C>A (p.Leu1178Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000390224]|not provided [RCV002261073] Chr2:50236803 [GRCh38]
Chr2:50463941 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-224G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000287648] Chr2:51028497 [GRCh38]
Chr2:51255635 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-1039C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000328210] Chr2:51032098 [GRCh38]
Chr2:51259236 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.*1090G>A single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000398069] Chr2:49920854 [GRCh38]
Chr2:50147992 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-281T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000398128]|not provided [RCV000829843] Chr2:51028554 [GRCh38]
Chr2:51255692 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.644G>A (p.Ser215Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001139144] Chr2:51027630 [GRCh38]
Chr2:51254768 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:50918448-50982113)x1 copy number loss See cases [RCV000447544] Chr2:50918448..50982113 [GRCh37]
Chr2:2p16.3
likely benign
GRCh37/hg19 2p16.3(chr2:50280210-51109690)x1 copy number loss See cases [RCV000447683] Chr2:50280210..51109690 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:51259160-51259694)x3 copy number gain See cases [RCV000447455] Chr2:51259160..51259694 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.162G>A (p.Met54Ile) single nucleotide variant Ovarian dysgenesis 3 [RCV000417111]|Pitt-Hopkins-like syndrome 2 [RCV002521498] Chr2:51028112 [GRCh38]
Chr2:51255250 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
GRCh37/hg19 2p16.3(chr2:50804279-51027599)x1 copy number loss See cases [RCV000447781] Chr2:50804279..51027599 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:50813343-50948464)x1 copy number loss See cases [RCV000448283] Chr2:50813343..50948464 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:51181652-51343169)x3 copy number gain See cases [RCV000447814] Chr2:51181652..51343169 [GRCh37]
Chr2:2p16.3
uncertain significance
NC_000002.12:g.(?_50722330)_(50939855_?)del deletion Schizophrenia [RCV000416908] Chr2:50722330..50939855 [GRCh38]
Chr2:50949468..51166993 [GRCh37]
Chr2:50802972..51020497 [NCBI36]
Chr2:2p16.3
likely pathogenic
NM_001330078.2(NRXN1):c.3181C>T (p.Arg1061Trp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000459018] Chr2:50472361 [GRCh38]
Chr2:50699499 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000764445]|Pitt-Hopkins-like syndrome 2 [RCV003114611]|not provided [RCV000479818] Chr2:50538612 [GRCh38]
Chr2:50765750 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2880-22_2880-14del deletion Pitt-Hopkins-like syndrome 2 [RCV002063749]|not specified [RCV000480174] Chr2:50496109..50496117 [GRCh38]
Chr2:50723247..50723255 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2483A>C (p.Gln828Pro) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000459931] Chr2:50506509 [GRCh38]
Chr2:50733647 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4352C>T (p.Ala1451Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000471230] Chr2:49922116 [GRCh38]
Chr2:50149254 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3365-110014del deletion not specified [RCV000484475] Chr2:50346984 [GRCh38]
Chr2:50574122 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2144-22_2144-20del deletion Pitt-Hopkins-like syndrome 2 [RCV002063741]|not specified [RCV000484606] Chr2:50531450..50531452 [GRCh38]
Chr2:50758588..50758590 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.4012T>G (p.Ser1338Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619683]|not provided [RCV000484825] Chr2:50053387 [GRCh38]
Chr2:50280525 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.479C>T (p.Pro160Leu) single nucleotide variant Inborn genetic diseases [RCV002525595]|Pitt-Hopkins-like syndrome 2 [RCV000475838]|not provided [RCV001584165] Chr2:51027795 [GRCh38]
Chr2:51254933 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.9G>C (p.Thr3=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000472390]|not provided [RCV001721541] Chr2:51028265 [GRCh38]
Chr2:51255403 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.119G>A (p.Trp40Ter) single nucleotide variant not provided [RCV000484849] Chr2:51028155 [GRCh38]
Chr2:51255293 [GRCh37]
Chr2:2p16.3
likely pathogenic
NM_001330078.2(NRXN1):c.3845dup (p.Ile1283fs) duplication not provided [RCV000485040] Chr2:50053553..50053554 [GRCh38]
Chr2:50280691..50280692 [GRCh37]
Chr2:2p16.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001330078.2(NRXN1):c.2261T>C (p.Ile754Thr) single nucleotide variant Inborn genetic diseases [RCV004022863]|Pitt-Hopkins-like syndrome 2 [RCV000469254] Chr2:50531313 [GRCh38]
Chr2:50758451 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.322C>G (p.Pro108Ala) single nucleotide variant not provided [RCV000478183] Chr2:51027952 [GRCh38]
Chr2:51255090 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.150C>T (p.Cys50=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000473400] Chr2:51028124 [GRCh38]
Chr2:51255262 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_138735.4:(NRXN1):c.49GGC[13] (p.Gly17[13]) microsatellite Inborn genetic diseases [RCV002367630]|not provided [RCV001722388] Chr2:50346872 [GRCh38]
Chr2:50574010 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1786A>T (p.Thr596Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000466435] Chr2:50538610 [GRCh38]
Chr2:50765748 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3769C>T (p.Arg1257Ter) single nucleotide variant not provided [RCV000480371] Chr2:50054994 [GRCh38]
Chr2:50282132 [GRCh37]
Chr2:2p16.3
likely pathogenic
GRCh37/hg19 2p16.3(chr2:51238789-51309967)x1 copy number loss See cases [RCV000510249] Chr2:51238789..51309967 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.772G>A (p.Glu258Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001220515]|not provided [RCV000498652] Chr2:51027502 [GRCh38]
Chr2:51254640 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1244A>G (p.Tyr415Cys) single nucleotide variant NRXN-related disorder [RCV000509452]|Pitt-Hopkins-like syndrome 2 [RCV001302540]|not provided [RCV000498917] Chr2:50620098 [GRCh38]
Chr2:50847236 [GRCh37]
Chr2:2p16.3
uncertain significance|not provided
NM_001330078.2(NRXN1):c.320C>T (p.Thr107Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000792806]|not provided [RCV001755746]|not specified [RCV000504207] Chr2:51027954 [GRCh38]
Chr2:51255092 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2085G>A (p.Trp695Ter) single nucleotide variant not provided [RCV000497428] Chr2:50538311 [GRCh38]
Chr2:50765449 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.503A>G (p.Lys168Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001141768]|not provided [RCV000497458] Chr2:51027771 [GRCh38]
Chr2:51254909 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3009A>T (p.Val1003=) single nucleotide variant not specified [RCV000499863] Chr2:50495966 [GRCh38]
Chr2:50723104 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1296C>T (p.Asn432=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003105933]|not specified [RCV000502192] Chr2:50620046 [GRCh38]
Chr2:50847184 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.668G>A (p.Gly223Asp) single nucleotide variant not specified [RCV000502253] Chr2:51027606 [GRCh38]
Chr2:51254744 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1480C>T (p.Pro494Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001366185]|not provided [RCV000497893] Chr2:50552866 [GRCh38]
Chr2:50780004 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1648C>G (p.Leu550Val) single nucleotide variant not specified [RCV000500233] Chr2:50552698 [GRCh38]
Chr2:50779836 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.76G>C (p.Glu26Gln) single nucleotide variant Inborn genetic diseases [RCV003159608]|Pitt-Hopkins-like syndrome 2 [RCV001225086]|not provided [RCV000498110] Chr2:51028198 [GRCh38]
Chr2:51255336 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.656_664dup (p.Ala219_Glu221dup) duplication not specified [RCV000502634] Chr2:51027609..51027610 [GRCh38]
Chr2:51254747..51254748 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.847A>G (p.Ile283Val) single nucleotide variant Inborn genetic diseases [RCV002376927]|Pitt-Hopkins-like syndrome 2 [RCV001344361]|not specified [RCV000500606] Chr2:50623601 [GRCh38]
Chr2:50850739 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
GRCh37/hg19 2p16.3(chr2:50964034-51227294)x1 copy number loss See cases [RCV000511405] Chr2:50964034..51227294 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:51078335-51562416)x1 copy number loss See cases [RCV000511751] Chr2:51078335..51562416 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:51225621-51337449)x1 copy number loss See cases [RCV000511794] Chr2:51225621..51337449 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.325G>A (p.Val109Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001060039]|not provided [RCV000492823] Chr2:51027949 [GRCh38]
Chr2:51255087 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3653C>T (p.Thr1218Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001359620]|not provided [RCV000492983] Chr2:50091388 [GRCh38]
Chr2:50318526 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:51146817-51854353)x1 copy number loss See cases [RCV000511128] Chr2:51146817..51854353 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:50905757-51249333)x1 copy number loss See cases [RCV000510997] Chr2:50905757..51249333 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001330078.2(NRXN1):c.3046G>A (p.Gly1016Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000533202] Chr2:50495929 [GRCh38]
Chr2:50723067 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.297G>A (p.Glu99=) single nucleotide variant not provided [RCV003411454]|not specified [RCV000603631] Chr2:51027977 [GRCh38]
Chr2:51255115 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-109705C>G single nucleotide variant not specified [RCV000603669] Chr2:50346675 [GRCh38]
Chr2:50573813 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.371G>C (p.Arg124Pro) single nucleotide variant Inborn genetic diseases [RCV003257226] Chr2:51027903 [GRCh38]
Chr2:51255041 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1269C>T (p.Ala423=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000536718] Chr2:50620073 [GRCh38]
Chr2:50847211 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-109902C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000768035]|not provided [RCV001550373] Chr2:50346872 [GRCh38]
Chr2:50574010 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
GRCh37/hg19 2p16.3(chr2:50984755-51256334)x1 copy number loss not provided [RCV003312531] Chr2:50984755..51256334 [GRCh37]
Chr2:2p16.3
likely pathogenic
NM_001330078.2(NRXN1):c.2476G>A (p.Asp826Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000541720] Chr2:50506516 [GRCh38]
Chr2:50733654 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.930G>A (p.Leu310=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003619705]|not specified [RCV000602412] Chr2:50623518 [GRCh38]
Chr2:50850656 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.249G>T (p.Leu83=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001418828]|not provided [RCV000953830] Chr2:51028025 [GRCh38]
Chr2:51255163 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.-919G>C single nucleotide variant not specified [RCV000609514] Chr2:51029192 [GRCh38]
Chr2:51256330 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2348-6A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002066591]|not provided [RCV001719043] Chr2:50528657 [GRCh38]
Chr2:50755795 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-109758A>G single nucleotide variant not specified [RCV000612465] Chr2:50346728 [GRCh38]
Chr2:50573866 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.588C>T (p.Pro196=) single nucleotide variant Inborn genetic diseases [RCV002358717]|Pitt-Hopkins-like syndrome 2 [RCV000869587]|not specified [RCV000615200] Chr2:51027686 [GRCh38]
Chr2:51254824 [GRCh37]
Chr2:2p16.3
likely benign
NM_138735.4(NRXN1):c.49GCC[12] (p.Gly17[12]) microsatellite Inborn genetic diseases [RCV002314169]|not provided [RCV001531317]|not specified [RCV000609811] Chr2:50346870..50346871 [GRCh38]
Chr2:50574008..50574009 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3675G>T (p.Thr1225=) single nucleotide variant not specified [RCV000615796] Chr2:50091366 [GRCh38]
Chr2:50318504 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3808+8dup duplication Pitt-Hopkins-like syndrome 2 [RCV000983756]|not specified [RCV000609974] Chr2:50054946..50054947 [GRCh38]
Chr2:50282084..50282085 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-109902_3365-109900dup duplication not provided [RCV001718987] Chr2:50346869..50346870 [GRCh38]
Chr2:50574007..50574008 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.589G>C (p.Val197Leu) single nucleotide variant Inborn genetic diseases [RCV000622290] Chr2:51027685 [GRCh38]
Chr2:51254823 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.772+16C>T single nucleotide variant not specified [RCV000610223] Chr2:51027486 [GRCh38]
Chr2:51254624 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1887C>T (p.Thr629=) single nucleotide variant Inborn genetic diseases [RCV002317350]|Pitt-Hopkins-like syndrome 2 [RCV001475915]|not provided [RCV001697472] Chr2:50538509 [GRCh38]
Chr2:50765647 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2301C>A (p.Leu767=) single nucleotide variant not specified [RCV000616152] Chr2:50531273 [GRCh38]
Chr2:50758411 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3245-10T>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649729] Chr2:50465571 [GRCh38]
Chr2:50692709 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4337T>A (p.Leu1446His) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649730] Chr2:49922131 [GRCh38]
Chr2:50149269 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys) single nucleotide variant Inborn genetic diseases [RCV002531944]|NRXN1-related disorder [RCV004533398]|Pitt-Hopkins-like syndrome 2 [RCV000649731]|not provided [RCV001551717] Chr2:50506555 [GRCh38]
Chr2:50733693 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.325G>C (p.Val109Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649732] Chr2:51027949 [GRCh38]
Chr2:51255087 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.515C>T (p.Ala172Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649733] Chr2:51027759 [GRCh38]
Chr2:51254897 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2491A>G (p.Met831Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649734]|not provided [RCV001555104] Chr2:50506501 [GRCh38]
Chr2:50733639 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.652G>C (p.Glu218Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649735] Chr2:51027622 [GRCh38]
Chr2:51254760 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) duplication Inborn genetic diseases [RCV002317889]|Pitt-Hopkins-like syndrome 2 [RCV000649736]|Pitt-Hopkins-like syndrome 2 [RCV000768036]|not provided [RCV001508077] Chr2:51027600..51027601 [GRCh38]
Chr2:51254738..51254739 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.190C>A (p.Arg64Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649737]|not provided [RCV001565881] Chr2:51028084 [GRCh38]
Chr2:51255222 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.113G>A (p.Gly38Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649739] Chr2:51028161 [GRCh38]
Chr2:51255299 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3612T>A (p.Asn1204Lys) single nucleotide variant Inborn genetic diseases [RCV002343350]|Pitt-Hopkins-like syndrome 2 [RCV000649740] Chr2:50091429 [GRCh38]
Chr2:50318567 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1647C>A (p.His549Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649741] Chr2:50552699 [GRCh38]
Chr2:50779837 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1551C>G (p.Ile517Met) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649743] Chr2:50552795 [GRCh38]
Chr2:50779933 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.804G>C (p.Leu268=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001087129]|not provided [RCV000828263] Chr2:50922674 [GRCh38]
Chr2:51149812 [GRCh37]
Chr2:2p16.3
likely benign
NC_000002.12:g.(?_50465422)_(51032054_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000649762] Chr2:50465422..51032054 [GRCh38]
Chr2:50692560..51259192 [GRCh37]
Chr2:2p16.3
pathogenic
NC_000002.12:g.(?_49921924)_(50055064_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000649763] Chr2:49921924..50055064 [GRCh38]
Chr2:50149062..50282202 [GRCh37]
Chr2:2p16.3
uncertain significance
NC_000002.12:g.(?_50921849)_(50925975_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000649764] Chr2:50921849..50925975 [GRCh38]
Chr2:51148987..51153113 [GRCh37]
Chr2:2p16.3
pathogenic|uncertain significance
NC_000002.12:g.(?_50053251)_(50055064_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000649766] Chr2:50053251..50055064 [GRCh38]
Chr2:50280389..50282202 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.2625T>C (p.Asn875=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001450675]|Pitt-Hopkins-like syndrome 2 [RCV002485462] Chr2:50497587 [GRCh38]
Chr2:50724725 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2498-7C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001472729] Chr2:50497721 [GRCh38]
Chr2:50724859 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2446C>A (p.Arg816=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649748] Chr2:50506546 [GRCh38]
Chr2:50733684 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.546G>A (p.Gly182=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649751] Chr2:51027728 [GRCh38]
Chr2:51254866 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1800T>C (p.Ala600=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649753] Chr2:50538596 [GRCh38]
Chr2:50765734 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3718+7A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649760] Chr2:50091316 [GRCh38]
Chr2:50318454 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-3C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000649761] Chr2:50236973 [GRCh38]
Chr2:50464111 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3168T>G (p.Val1056=) single nucleotide variant not specified [RCV000601996] Chr2:50472374 [GRCh38]
Chr2:50699512 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.75G>A (p.Ala25=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001211306]|not specified [RCV000613077] Chr2:51028199 [GRCh38]
Chr2:51255337 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3165A>G (p.Ser1055=) single nucleotide variant Inborn genetic diseases [RCV002311953]|not provided [RCV000596933] Chr2:50472377 [GRCh38]
Chr2:50699515 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NC_000002.12:g.(?_50528605)_(50623635_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000649765] Chr2:50528605..50623635 [GRCh38]
Chr2:50755743..50850773 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2375-4A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001423384]|not provided [RCV001697359] Chr2:50506621 [GRCh38]
Chr2:50733759 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1320+19A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002065364]|not specified [RCV000607847] Chr2:50620003 [GRCh38]
Chr2:50847141 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3888G>A (p.Gln1296=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001441354]|not specified [RCV000613398] Chr2:50053511 [GRCh38]
Chr2:50280649 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1947C>T (p.Ile649=) single nucleotide variant Inborn genetic diseases [RCV002317349]|Pitt-Hopkins-like syndrome 2 [RCV001477613]|not provided [RCV001722641] Chr2:50538449 [GRCh38]
Chr2:50765587 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1737C>T (p.Asp579=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509583]|not provided [RCV001712655] Chr2:50552609 [GRCh38]
Chr2:50779747 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.772+1103T>C single nucleotide variant not specified [RCV000616787] Chr2:51026399 [GRCh38]
Chr2:51253537 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3547-16C>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002063172]|not specified [RCV000608313] Chr2:50091510 [GRCh38]
Chr2:50318648 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.772+1118G>A single nucleotide variant Inborn genetic diseases [RCV002448901]|Pitt-Hopkins-like syndrome 2 [RCV000867276]|not provided [RCV001719083] Chr2:51026384 [GRCh38]
Chr2:51253522 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1760-15_1760-13del microsatellite not specified [RCV000608476] Chr2:50538649..50538651 [GRCh38]
Chr2:50765787..50765789 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3957C>T (p.Ala1319=) single nucleotide variant not specified [RCV000611154] Chr2:50053442 [GRCh38]
Chr2:50280580 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.702C>T (p.Cys234=) single nucleotide variant NRXN1-related disorder [RCV004544791]|Pitt-Hopkins-like syndrome 2 [RCV001419714]|not provided [RCV001704784] Chr2:51027572 [GRCh38]
Chr2:51254710 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.330C>T (p.Asn110=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001506250] Chr2:51027944 [GRCh38]
Chr2:51255082 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1227G>A (p.Gly409=) single nucleotide variant not provided [RCV001697357] Chr2:50620115 [GRCh38]
Chr2:50847253 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.773-19C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002531632]|not specified [RCV000614480] Chr2:50925974 [GRCh38]
Chr2:51153112 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3919G>A (p.Val1307Ile) single nucleotide variant Inborn genetic diseases [RCV004024209]|Pitt-Hopkins-like syndrome 2 [RCV000535888] Chr2:50053480 [GRCh38]
Chr2:50280618 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3936C>T (p.Ala1312=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002063028]|not provided [RCV001697343] Chr2:50053463 [GRCh38]
Chr2:50280601 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.772+9C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002065444]|not specified [RCV000614741] Chr2:51027493 [GRCh38]
Chr2:51254631 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.261C>T (p.Gly87=) single nucleotide variant not specified [RCV000614751] Chr2:51028013 [GRCh38]
Chr2:51255151 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.537C>T (p.Pro179=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002062940]|not specified [RCV000614847] Chr2:51027737 [GRCh38]
Chr2:51254875 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1059A>C (p.Ala353=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000558951]|not provided [RCV001533802] Chr2:50623389 [GRCh38]
Chr2:50850527 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3375A>G (p.Thr1125=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000924784]|Pitt-Hopkins-like syndrome 2 [RCV003224348]|not specified [RCV000604096] Chr2:50236960 [GRCh38]
Chr2:50464098 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1 copy number loss See cases [RCV000512533] Chr2:47361260..54934153 [GRCh37]
Chr2:2p21-16.2
pathogenic
GRCh37/hg19 2p16.3(chr2:50707763-50793781)x1 copy number loss See cases [RCV000512237] Chr2:50707763..50793781 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.1320+4_1320+7dup duplication Pitt-Hopkins-like syndrome 2 [RCV001408462]|not specified [RCV000600967] Chr2:50620014..50620015 [GRCh38]
Chr2:50847152..50847153 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.4485C>T (p.Asn1495=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000869466]|not provided [RCV001719094] Chr2:49921983 [GRCh38]
Chr2:50149121 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2895G>T (p.Val965=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001442988]|not provided [RCV001712647] Chr2:50496080 [GRCh38]
Chr2:50723218 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3030_3041dup (p.Thr1011_Thr1014dup) duplication not provided [RCV000658446] Chr2:50495933..50495934 [GRCh38]
Chr2:50723071..50723072 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.348C>A (p.Ser116Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000660502] Chr2:51027926 [GRCh38]
Chr2:51255064 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
NM_001330078.2(NRXN1):c.773-304_790+128del deletion not provided [RCV000677986] Chr2:50925810..50926259 [GRCh38]
Chr2:51152948..51153397 [GRCh37]
Chr2:2p16.3
likely pathogenic
GRCh37/hg19 2p16.3(chr2:50598358-50625932)x1 copy number loss not provided [RCV000681967] Chr2:50598358..50625932 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:50878157-50948464)x1 copy number loss not provided [RCV000681985] Chr2:50878157..50948464 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:51183215-51263065)x1 copy number loss not provided [RCV000681993] Chr2:51183215..51263065 [GRCh37]
Chr2:2p16.3
likely pathogenic
GRCh37/hg19 2p16.3(chr2:50612570-50671502)x1 copy number loss not provided [RCV000681978] Chr2:50612570..50671502 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:50941283-51098920)x1 copy number loss not provided [RCV000682018] Chr2:50941283..51098920 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:51089735-51263065)x1 copy number loss not provided [RCV000682022] Chr2:51089735..51263065 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:51183370-51370150)x1 copy number loss not provided [RCV000682027] Chr2:51183370..51370150 [GRCh37]
Chr2:2p16.3
likely pathogenic
GRCh37/hg19 2p16.3(chr2:50749598-50905296)x1 copy number loss not provided [RCV000682017] Chr2:50749598..50905296 [GRCh37]
Chr2:2p16.3
likely pathogenic
GRCh37/hg19 2p16.3(chr2:51125057-51803361)x1 copy number loss not provided [RCV000682099] Chr2:51125057..51803361 [GRCh37]
Chr2:2p16.3
likely pathogenic
Single allele deletion Chromosome 2p16.3 deletion syndrome [RCV000677934] Chr2:50830687..50945045 [GRCh38]
Chr2:51057824..51172182 [GRCh37]
Chr2:2p16.3
pathogenic
Single allele deletion Pitt-Hopkins-like syndrome 2 [RCV000678023] Chr2:50289412..51032600 [GRCh38]
Chr2:50516550..51259738 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:50590641-50914155)x1 copy number loss not provided [RCV000682059] Chr2:50590641..50914155 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:51062935-51463501)x1 copy number loss not provided [RCV000682070] Chr2:51062935..51463501 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:50690712-51147280)x1 copy number loss not provided [RCV000682075] Chr2:50690712..51147280 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.2814A>G (p.Leu938=) single nucleotide variant Inborn genetic diseases [RCV002317407]|Pitt-Hopkins-like syndrome 2 [RCV001401816]|not provided [RCV001595037] Chr2:50497398 [GRCh38]
Chr2:50724536 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2323C>T (p.Arg775Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000687698] Chr2:50531251 [GRCh38]
Chr2:50758389 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2346A>C (p.Leu782=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000702904] Chr2:50531228 [GRCh38]
Chr2:50758366 [GRCh37]
Chr2:2p16.3
uncertain significance
NC_000002.12:g.(?_50528605)_(50553045_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000708443] Chr2:50528605..50553045 [GRCh38]
Chr2:50755743..50780183 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.772+1133T>C single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000689979]|not provided [RCV002051884] Chr2:51026369 [GRCh38]
Chr2:51253507 [GRCh37]
Chr2:2p16.3
likely pathogenic|uncertain significance
NM_001330078.2(NRXN1):c.672G>T (p.Glu224Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000704827] Chr2:51027602 [GRCh38]
Chr2:51254740 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.772+1063C>T single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000704916] Chr2:51026439 [GRCh38]
Chr2:51253577 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3364C>T (p.Pro1122Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000705070] Chr2:50465442 [GRCh38]
Chr2:50692580 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2628A>G (p.Gly876=) single nucleotide variant Inborn genetic diseases [RCV002312266]|Pitt-Hopkins-like syndrome 2 [RCV001392152] Chr2:50497584 [GRCh38]
Chr2:50724722 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.370C>T (p.Arg124Cys) single nucleotide variant Inborn genetic diseases [RCV002316067]|Pitt-Hopkins-like syndrome 2 [RCV001051974]|not provided [RCV001567008] Chr2:51027904 [GRCh38]
Chr2:51255042 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.20A>T (p.Gln7Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000706465] Chr2:51028254 [GRCh38]
Chr2:51255392 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3869G>T (p.Gly1290Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000695299] Chr2:50053530 [GRCh38]
Chr2:50280668 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4220A>G (p.Asn1407Ser) single nucleotide variant Inborn genetic diseases [RCV002331338]|Pitt-Hopkins-like syndrome 2 [RCV000688095]|not provided [RCV001555116] Chr2:49922248 [GRCh38]
Chr2:50149386 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.811G>A (p.Gly271Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000707331]|not provided [RCV001592912] Chr2:50922667 [GRCh38]
Chr2:51149805 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3855C>T (p.Gly1285=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000693370] Chr2:50053544 [GRCh38]
Chr2:50280682 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3775G>C (p.Gly1259Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000695626] Chr2:50054988 [GRCh38]
Chr2:50282126 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2171G>C (p.Ser724Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000707531] Chr2:50531403 [GRCh38]
Chr2:50758541 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2717C>T (p.Pro906Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000696016] Chr2:50497495 [GRCh38]
Chr2:50724633 [GRCh37]
Chr2:2p16.3
uncertain significance
NC_000002.12:g.(?_50465422)_(50623635_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000707915] Chr2:50465422..50623635 [GRCh38]
Chr2:50692560..50850773 [GRCh37]
Chr2:2p16.3
pathogenic|uncertain significance
NM_001330078.2(NRXN1):c.4088C>A (p.Ala1363Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000688996] Chr2:50053311 [GRCh38]
Chr2:50280449 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1796C>G (p.Thr599Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000696444] Chr2:50538600 [GRCh38]
Chr2:50765738 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2132C>T (p.Ser711Phe) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000696445] Chr2:50538264 [GRCh38]
Chr2:50765402 [GRCh37]
Chr2:2p16.3
uncertain significance
NC_000002.12:g.(?_51026351)_(51032054_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000708307] Chr2:51026351..51032054 [GRCh38]
Chr2:51253489..51259192 [GRCh37]
Chr2:2p16.3
pathogenic
NC_000002.12:g.(?_50465422)_(50472491_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000708376] Chr2:50465422..50472491 [GRCh38]
Chr2:50692560..50699629 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000703445]|Pitt-Hopkins-like syndrome 2 [RCV002485745] Chr2:49922221 [GRCh38]
Chr2:50149359 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:51232182-51326497)x1 copy number loss not provided [RCV000752954] Chr2:51232182..51326497 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3365-109930GCG[9] microsatellite Inborn genetic diseases [RCV002313507]|not provided [RCV001692274] Chr2:50346871..50346873 [GRCh38]
Chr2:50574009..50574011 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.1377A>G (p.Gly459=) single nucleotide variant Inborn genetic diseases [RCV002313677]|Pitt-Hopkins-like syndrome 2 [RCV002534563] Chr2:50552969 [GRCh38]
Chr2:50780107 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2450G>T (p.Arg817Leu) single nucleotide variant Inborn genetic diseases [RCV002318747]|Pitt-Hopkins-like syndrome 2 [RCV003509591] Chr2:50506542 [GRCh38]
Chr2:50733680 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1275T>C (p.Leu425=) single nucleotide variant Inborn genetic diseases [RCV002317956]|Pitt-Hopkins-like syndrome 2 [RCV003619717] Chr2:50620067 [GRCh38]
Chr2:50847205 [GRCh37]
Chr2:2p16.3
likely benign
GRCh37/hg19 2p16.3(chr2:51147134-51184223)x1 copy number loss not provided [RCV000752949] Chr2:51147134..51184223 [GRCh37]
Chr2:2p16.3
likely pathogenic
GRCh37/hg19 2p16.3(chr2:51181831-51520327)x1 copy number loss not provided [RCV000752951] Chr2:51181831..51520327 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.347G>C (p.Ser116Thr) single nucleotide variant Inborn genetic diseases [RCV002317965] Chr2:51027927 [GRCh38]
Chr2:51255065 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3124C>T (p.Leu1042Phe) single nucleotide variant Inborn genetic diseases [RCV002315291] Chr2:50472418 [GRCh38]
Chr2:50699556 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.412G>T (p.Val138Leu) single nucleotide variant Inborn genetic diseases [RCV002317439]|Pitt-Hopkins-like syndrome 2 [RCV001038049] Chr2:51027862 [GRCh38]
Chr2:51255000 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3076T>A (p.Leu1026Ile) single nucleotide variant Inborn genetic diseases [RCV002316689] Chr2:50472466 [GRCh38]
Chr2:50699604 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3353T>G (p.Leu1118Arg) single nucleotide variant Inborn genetic diseases [RCV002318190]|Pitt-Hopkins-like syndrome 2 [RCV001862081] Chr2:50465453 [GRCh38]
Chr2:50692591 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.20A>G (p.Gln7Arg) single nucleotide variant Inborn genetic diseases [RCV002317606] Chr2:51028254 [GRCh38]
Chr2:51255392 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.37C>T (p.Leu13Phe) single nucleotide variant Inborn genetic diseases [RCV002317619]|Pitt-Hopkins-like syndrome 2 [RCV001219129]|not provided [RCV001544850] Chr2:51028237 [GRCh38]
Chr2:51255375 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2888A>G (p.His963Arg) single nucleotide variant Inborn genetic diseases [RCV002318241]|Pitt-Hopkins-like syndrome 2 [RCV001868374] Chr2:50496087 [GRCh38]
Chr2:50723225 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2151G>T (p.Thr717=) single nucleotide variant Inborn genetic diseases [RCV002318261]|Pitt-Hopkins-like syndrome 2 [RCV001408128] Chr2:50531423 [GRCh38]
Chr2:50758561 [GRCh37]
Chr2:2p16.3
likely benign
NC_000002.12:g.(?_50346671)_(50623635_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000813977] Chr2:50346671..50623635 [GRCh38]
Chr2:50573809..50850773 [GRCh37]
Chr2:2p16.3
uncertain significance
NC_000002.12:g.(?_51001206)_(51200739_?)del deletion Autism [RCV000754266] Chr2:51001206..51200739 [GRCh38]
Chr2:2p16.3
pathogenic
NC_000002.12:g.(?_50721552)_(50944617_?)del deletion Schizophrenia [RCV000754263] Chr2:50721552..50944617 [GRCh38]
Chr2:2p16.3
pathogenic
NC_000002.12:g.(?_50836961)_(51084060_?)del deletion Schizophrenia [RCV000754264] Chr2:50836961..51084060 [GRCh38]
Chr2:2p16.3
pathogenic
NC_000002.12:g.(?_50975328)_(51121693_?)del deletion Schizophrenia [RCV000754265] Chr2:50975328..51121693 [GRCh38]
Chr2:2p16.3
pathogenic
NC_000002.12:g.(?_50496341)_(51317388_?)del deletion Autism [RCV000754262] Chr2:50496341..51317388 [GRCh38]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.3718+307T>G single nucleotide variant not provided [RCV001539820] Chr2:50091016 [GRCh38]
Chr2:50318154 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2510G>T (p.Gly837Val) single nucleotide variant not provided [RCV001545075] Chr2:50497702 [GRCh38]
Chr2:50724840 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3365-109721G>T single nucleotide variant NRXN1-related disorder [RCV004536199]|not provided [RCV001567802] Chr2:50346691 [GRCh38]
Chr2:50573829 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3771A>G (p.Arg1257=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000939849]|not provided [RCV001776071] Chr2:50054992 [GRCh38]
Chr2:50282130 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1551_1555del (p.Ile517_Leu518insTer) deletion not provided [RCV000762267] Chr2:50552791..50552795 [GRCh38]
Chr2:50779929..50779933 [GRCh37]
Chr2:2p16.3
likely pathogenic
NM_001330078.2(NRXN1):c.4130C>A (p.Thr1377Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002569051]|not provided [RCV001571150] Chr2:49943790 [GRCh38]
Chr2:50170928 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1159-185C>G single nucleotide variant not provided [RCV001569339] Chr2:50620368 [GRCh38]
Chr2:50847506 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-109846T>C single nucleotide variant not provided [RCV001577154] Chr2:50346816 [GRCh38]
Chr2:50573954 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:50489928-50514746)x1 copy number loss not provided [RCV001005262] Chr2:50489928..50514746 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:51191164-51354468)x1 copy number loss See cases [RCV000448935] Chr2:51191164..51354468 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:51225621-51304763)x1 copy number loss See cases [RCV000448175] Chr2:51225621..51304763 [GRCh37]
Chr2:2p16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:50573838-50579293)x3 copy number gain See cases [RCV000448308] Chr2:50573838..50579293 [GRCh37]
Chr2:2p16.3
likely benign
GRCh37/hg19 2p16.3(chr2:51032041-51189570)x1 copy number loss See cases [RCV000448451] Chr2:51032041..51189570 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.369C>A (p.Phe123Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002527655]|not provided [RCV000523116] Chr2:51027905 [GRCh38]
Chr2:51255043 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3192C>T (p.Asp1064=) single nucleotide variant not specified [RCV000499556] Chr2:50472350 [GRCh38]
Chr2:50699488 [GRCh37]
Chr2:2p16.3
likely benign
GRCh37/hg19 2p16.3(chr2:51229995-51363342)x1 copy number loss See cases [RCV000510712] Chr2:51229995..51363342 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.3675G>A (p.Thr1225=) single nucleotide variant NRXN1-related disorder [RCV004535606]|Pitt-Hopkins-like syndrome 2 [RCV001454591]|not provided [RCV001566075]|not specified [RCV000502923] Chr2:50091366 [GRCh38]
Chr2:50318504 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.338C>T (p.Ala113Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001857134]|Pitt-Hopkins-like syndrome 2 [RCV002490838]|not specified [RCV000503057] Chr2:51027936 [GRCh38]
Chr2:51255074 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:50844015-51586061)x1 copy number loss See cases [RCV000510356] Chr2:50844015..51586061 [GRCh37]
Chr2:2p16.3
likely pathogenic
GRCh37/hg19 2p16.3(chr2:51113043-51257100)x1 copy number loss See cases [RCV000511342] Chr2:51113043..51257100 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.3365-109922G>C single nucleotide variant not provided [RCV000579240] Chr2:50346892 [GRCh38]
Chr2:50574030 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.285C>T (p.Ile95=) single nucleotide variant not specified [RCV000612660] Chr2:51027989 [GRCh38]
Chr2:51255127 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.832+6A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000554716]|not provided [RCV001755883] Chr2:50921863 [GRCh38]
Chr2:51149001 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.3198C>T (p.Ile1066=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001471404]|not specified [RCV000604006] Chr2:50472344 [GRCh38]
Chr2:50699482 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1789C>G (p.Pro597Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002532365]|not provided [RCV000594909] Chr2:50538607 [GRCh38]
Chr2:50765745 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.832+2dup duplication Inborn genetic diseases [RCV002369907]|Pitt-Hopkins-like syndrome 2 [RCV000698740] Chr2:50921866..50921867 [GRCh38]
Chr2:51149004..51149005 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.446T>C (p.Val149Ala) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000698776] Chr2:51027828 [GRCh38]
Chr2:51254966 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1885A>C (p.Thr629Pro) single nucleotide variant Inborn genetic diseases [RCV002312776]|Pitt-Hopkins-like syndrome 2 [RCV002532998] Chr2:50538511 [GRCh38]
Chr2:50765649 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:51216517-51272118)x1 copy number loss not provided [RCV000681977] Chr2:51216517..51272118 [GRCh37]
Chr2:2p16.3
likely pathogenic
GRCh37/hg19 2p16.3(chr2:50743869-50803486)x1 copy number loss not provided [RCV000681979] Chr2:50743869..50803486 [GRCh37]
Chr2:2p16.3
likely pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
NM_001330078.2(NRXN1):c.35T>G (p.Phe12Cys) single nucleotide variant Inborn genetic diseases [RCV002315998]|Pitt-Hopkins-like syndrome 2 [RCV000698366] Chr2:51028239 [GRCh38]
Chr2:51255377 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
GRCh37/hg19 2p16.3(chr2:51136802-51225497)x3 copy number gain not provided [RCV000752948] Chr2:51136802..51225497 [GRCh37]
Chr2:2p16.3
benign
GRCh37/hg19 2p16.3(chr2:51191432-51241789)x1 copy number loss not provided [RCV000752952] Chr2:51191432..51241789 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.2569T>C (p.Tyr857His) single nucleotide variant Inborn genetic diseases [RCV002316040] Chr2:50497643 [GRCh38]
Chr2:50724781 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4405C>A (p.Arg1469=) single nucleotide variant History of neurodevelopmental disorder [RCV000719895] Chr2:49922063 [GRCh38]
Chr2:50149201 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-109865C>T single nucleotide variant Inborn genetic diseases [RCV002317592]|not provided [RCV001568991] Chr2:50346835 [GRCh38]
Chr2:50573973 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2288C>G (p.Ser763Cys) single nucleotide variant Inborn genetic diseases [RCV002318148]|Pitt-Hopkins-like syndrome 2 [RCV003509592] Chr2:50531286 [GRCh38]
Chr2:50758424 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.-4G>A single nucleotide variant Inborn genetic diseases [RCV002318171] Chr2:51028277 [GRCh38]
Chr2:51255415 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p16.3(chr2:51224976-51225497)x0 copy number loss not provided [RCV000752953] Chr2:51224976..51225497 [GRCh37]
Chr2:2p16.3
benign
GRCh37/hg19 2p16.3(chr2:51241789-51411126)x1 copy number loss not provided [RCV000752955] Chr2:51241789..51411126 [GRCh37]
Chr2:2p16.3
benign
GRCh37/hg19 2p16.3(chr2:50605728-50618708)x3 copy number gain not provided [RCV000740426] Chr2:50605728..50618708 [GRCh37]
Chr2:2p16.3
benign
GRCh37/hg19 2p16.3(chr2:50816879-50885859)x1 copy number loss not provided [RCV000740427] Chr2:50816879..50885859 [GRCh37]
Chr2:2p16.3
benign
GRCh37/hg19 2p16.3(chr2:50882657-50947044)x1 copy number loss not provided [RCV000740428] Chr2:50882657..50947044 [GRCh37]
Chr2:2p16.3
benign
GRCh37/hg19 2p16.3(chr2:50895613-50947044)x1 copy number loss not provided [RCV000740429] Chr2:50895613..50947044 [GRCh37]
Chr2:2p16.3
benign
GRCh37/hg19 2p16.3(chr2:50983186-51082754)x1 copy number loss not provided [RCV000740430] Chr2:50983186..51082754 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:51070358-51411126)x1 copy number loss not provided [RCV000740431] Chr2:51070358..51411126 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.4129-279T>C single nucleotide variant not provided [RCV001572608] Chr2:49944070 [GRCh38]
Chr2:50171208 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.4257C>G (p.Gly1419=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001044830] Chr2:49922211 [GRCh38]
Chr2:50149349 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3244+274dup duplication not provided [RCV001551813] Chr2:50472019..50472020 [GRCh38]
Chr2:50699157..50699158 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3365-109931_3365-109930insGTC insertion Inborn genetic diseases [RCV002334616]|not provided [RCV001575423] Chr2:50346900..50346901 [GRCh38]
Chr2:50574038..50574039 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NC_000002.12:g.51032510_51032517del deletion not provided [RCV001576393] Chr2:51032507..51032514 [GRCh38]
Chr2:51259645..51259652 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2536A>G (p.Asn846Asp) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001068206] Chr2:50497676 [GRCh38]
Chr2:50724814 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1494A>G (p.Ala498=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV002542161] Chr2:50552852 [GRCh38]
Chr2:50779990 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.534G>A (p.Glu178=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001418847] Chr2:51027740 [GRCh38]
Chr2:51254878 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1326A>G (p.Val442=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000982744] Chr2:50553020 [GRCh38]
Chr2:50780158 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3822A>C (p.Thr1274=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001419817]|not provided [RCV000921699] Chr2:50053577 [GRCh38]
Chr2:50280715 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2970C>T (p.Asn990=) single nucleotide variant Inborn genetic diseases [RCV002319996]|Pitt-Hopkins-like syndrome 2 [RCV000868456] Chr2:50496005 [GRCh38]
Chr2:50723143 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1965T>C (p.Asp655=) single nucleotide variant not provided [RCV000919948] Chr2:50538431 [GRCh38]
Chr2:50765569 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2643C>T (p.Asp881=) single nucleotide variant Inborn genetic diseases [RCV002434103]|Pitt-Hopkins-like syndrome 2 [RCV002064591] Chr2:50497569 [GRCh38]
Chr2:50724707 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1159-4C>A single nucleotide variant not provided [RCV000904176] Chr2:50620187 [GRCh38]
Chr2:50847325 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.588C>G (p.Pro196=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000863969] Chr2:51027686 [GRCh38]
Chr2:51254824 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.219G>A (p.Glu73=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000865619]|not provided [RCV001615063] Chr2:51028055 [GRCh38]
Chr2:51255193 [GRCh37]
Chr2:2p16.3
benign|likely benign
NM_001330078.2(NRXN1):c.2841G>A (p.Gly947=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000929375] Chr2:50497371 [GRCh38]
Chr2:50724509 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3189G>A (p.Pro1063=) single nucleotide variant NRXN1-related disorder [RCV004536116]|Pitt-Hopkins-like syndrome 2 [RCV001058065] Chr2:50472353 [GRCh38]
Chr2:50699491 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.2458A>C (p.Ser820Arg) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001034839] Chr2:50506534 [GRCh38]
Chr2:50733672 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2045G>C (p.Ser682Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001061405] Chr2:50538351 [GRCh38]
Chr2:50765489 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1097C>T (p.Ala366Val) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001037440] Chr2:50623351 [GRCh38]
Chr2:50850489 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1598C>T (p.Pro533Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001051522] Chr2:50552748 [GRCh38]
Chr2:50779886 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2336C>T (p.Thr779Met) single nucleotide variant Inborn genetic diseases [RCV002445239]|Pitt-Hopkins-like syndrome 2 [RCV001043099] Chr2:50531238 [GRCh38]
Chr2:50758376 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.861A>G (p.Lys287=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001062066] Chr2:50623587 [GRCh38]
Chr2:50850725 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys) single nucleotide variant Chromosome 2p16.3 deletion syndrome [RCV001809966]|Pitt-Hopkins-like syndrome 2 [RCV001049963] Chr2:50538613 [GRCh38]
Chr2:50765751 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2799C>G (p.Phe933Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001035789]|not provided [RCV001759725] Chr2:50497413 [GRCh38]
Chr2:50724551 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3005C>T (p.Thr1002Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001052443] Chr2:50495970 [GRCh38]
Chr2:50723108 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3865C>A (p.Gln1289Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001038595] Chr2:50053534 [GRCh38]
Chr2:50280672 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2257G>A (p.Gly753Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001052114] Chr2:50531317 [GRCh38]
Chr2:50758455 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.410G>T (p.Trp137Leu) single nucleotide variant Inborn genetic diseases [RCV003363087]|Pitt-Hopkins-like syndrome 2 [RCV001057536] Chr2:51027864 [GRCh38]
Chr2:51255002 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2654A>G (p.Asn885Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001060870] Chr2:50497558 [GRCh38]
Chr2:50724696 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1321-229C>T single nucleotide variant not provided [RCV000826469] Chr2:50553254 [GRCh38]
Chr2:50780392 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3244+131A>T single nucleotide variant not provided [RCV000826478] Chr2:50472167 [GRCh38]
Chr2:50699305 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3546+226T>C single nucleotide variant not provided [RCV000826479] Chr2:50236563 [GRCh38]
Chr2:50463701 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3245-241T>C single nucleotide variant not provided [RCV000826482] Chr2:50465802 [GRCh38]
Chr2:50692940 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3364+121A>T single nucleotide variant not provided [RCV000826483] Chr2:50465321 [GRCh38]
Chr2:50692459 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.664G>A (p.Glu222Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000808782] Chr2:51027610 [GRCh38]
Chr2:51254748 [GRCh37]
Chr2:2p16.3
uncertain significance
NC_000002.12:g.(?_50538233)_(50553045_?)del deletion Pitt-Hopkins-like syndrome 2 [RCV000813348] Chr2:50538233..50553045 [GRCh38]
Chr2:50765371..50780183 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.576G>A (p.Ser192=) single nucleotide variant NRXN1-related disorder [RCV004540130]|Pitt-Hopkins-like syndrome 2 [RCV001424759]|not provided [RCV000828041] Chr2:51027698 [GRCh38]
Chr2:51254836 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3718+8A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000818765] Chr2:50091315 [GRCh38]
Chr2:50318453 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1851G>C (p.Gly617=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001435534] Chr2:50538545 [GRCh38]
Chr2:50765683 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.9G>A (p.Thr3=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV003509619] Chr2:51028265 [GRCh38]
Chr2:51255403 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2604C>T (p.His868=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000972581] Chr2:50497608 [GRCh38]
Chr2:50724746 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2337G>A (p.Thr779=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001425285]|not provided [RCV000977695] Chr2:50531237 [GRCh38]
Chr2:50758375 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.855G>A (p.Thr285=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000873912] Chr2:50623593 [GRCh38]
Chr2:50850731 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.450C>T (p.Phe150=) single nucleotide variant Inborn genetic diseases [RCV002336803]|Pitt-Hopkins-like syndrome 2 [RCV001405434]|not provided [RCV000868884] Chr2:51027824 [GRCh38]
Chr2:51254962 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1209A>G (p.Glu403=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001450656] Chr2:50620133 [GRCh38]
Chr2:50847271 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2967C>T (p.His989=) single nucleotide variant Inborn genetic diseases [RCV002320114]|Pitt-Hopkins-like syndrome 2 [RCV000932023] Chr2:50496008 [GRCh38]
Chr2:50723146 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3618C>T (p.Ile1206=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000981150]|not provided [RCV001575674]|not specified [RCV001819685] Chr2:50091423 [GRCh38]
Chr2:50318561 [GRCh37]
Chr2:2p16.3
likely benign|uncertain significance
NM_001330078.2(NRXN1):c.420C>G (p.Val140=) single nucleotide variant Inborn genetic diseases [RCV002332792]|Pitt-Hopkins-like syndrome 2 [RCV000866400] Chr2:51027854 [GRCh38]
Chr2:51254992 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.3033G>T (p.Thr1011=) single nucleotide variant Inborn genetic diseases [RCV002320091]|Pitt-Hopkins-like syndrome 2 [RCV000920158] Chr2:50495942 [GRCh38]
Chr2:50723080 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.4197G>A (p.Glu1399=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001488871]|not provided [RCV000896949] Chr2:49943723 [GRCh38]
Chr2:50170861 [GRCh37]
Chr2:2p16.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001330078.2(NRXN1):c.522G>A (p.Val174=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001505416] Chr2:51027752 [GRCh38]
Chr2:51254890 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2634A>T (p.Ala878=) single nucleotide variant not provided [RCV000926110] Chr2:50497578 [GRCh38]
Chr2:50724716 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.48C>T (p.Leu16=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001428344] Chr2:51028226 [GRCh38]
Chr2:51255364 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.4341C>T (p.Ile1447=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001428300] Chr2:49922127 [GRCh38]
Chr2:50149265 [GRCh37]
Chr2:2p16.3
likely benign
GRCh37/hg19 2p16.3(chr2:50927073-51249333)x1 copy number loss not provided [RCV001005264] Chr2:50927073..51249333 [GRCh37]
Chr2:2p16.3
likely pathogenic
GRCh37/hg19 2p16.3(chr2:50824330-50996165)x1 copy number loss not provided [RCV001005263] Chr2:50824330..50996165 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.2492T>C (p.Met831Thr) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000792998] Chr2:50506500 [GRCh38]
Chr2:50733638 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.1158+307dup duplication not provided [RCV000827592] Chr2:50620918..50620919 [GRCh38]
Chr2:50848056..50848057 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.2410C>A (p.Leu804Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000799211] Chr2:50506582 [GRCh38]
Chr2:50733720 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.342G>T (p.Trp114Cys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000817333] Chr2:51027932 [GRCh38]
Chr2:51255070 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2518A>T (p.Thr840Ser) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000793232] Chr2:50497694 [GRCh38]
Chr2:50724832 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2497+5A>G single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000817022] Chr2:50506490 [GRCh38]
Chr2:50733628 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3071-284G>A single nucleotide variant not provided [RCV000827593] Chr2:50472755 [GRCh38]
Chr2:50699893 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.518C>T (p.Ser173Leu) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000796607]|not provided [RCV001776006] Chr2:51027756 [GRCh38]
Chr2:51254894 [GRCh37]
Chr2:2p16.3
uncertain significance
GRCh37/hg19 2p16.3(chr2:50489928-50514709)x1 copy number loss not provided [RCV001005261] Chr2:50489928..50514709 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3876del (p.Phe1293fs) deletion Pitt-Hopkins-like syndrome 2 [RCV000818853] Chr2:50053523 [GRCh38]
Chr2:50280661 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.2879+231T>C single nucleotide variant not provided [RCV000832274] Chr2:50497102 [GRCh38]
Chr2:50724240 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.1320+147T>C single nucleotide variant not provided [RCV000832287] Chr2:50619875 [GRCh38]
Chr2:50847013 [GRCh37]
Chr2:2p16.3
benign
GRCh37/hg19 2p16.3(chr2:51099779-51490709)x1 copy number loss not provided [RCV001005267] Chr2:51099779..51490709 [GRCh37]
Chr2:2p16.3
pathogenic
NM_001330078.2(NRXN1):c.-921-8C>A single nucleotide variant not provided [RCV000828091] Chr2:51029202 [GRCh38]
Chr2:51256340 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.1593G>C (p.Lys531Asn) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000813730] Chr2:50552753 [GRCh38]
Chr2:50779891 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.4094G>T (p.Arg1365Ile) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000810753] Chr2:50053305 [GRCh38]
Chr2:50280443 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.3365-111062G>A single nucleotide variant not provided [RCV000828961] Chr2:50348032 [GRCh38]
Chr2:50575170 [GRCh37]
Chr2:2p16.3
likely benign
NM_001330078.2(NRXN1):c.2879+182T>C single nucleotide variant not provided [RCV000832241] Chr2:50497151 [GRCh38]
Chr2:50724289 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3770G>A (p.Arg1257Gln) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000806612] Chr2:50054993 [GRCh38]
Chr2:50282131 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.76G>A (p.Glu26Lys) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV000824207] Chr2:51028198 [GRCh38]
Chr2:51255336 [GRCh37]
Chr2:2p16.3
uncertain significance
NM_001330078.2(NRXN1):c.2313A>G (p.Leu771=) single nucleotide variant Pitt-Hopkins-like syndrome 2 [RCV001516084] Chr2:50531261 [GRCh38]
Chr2:50758399 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.821-84A>G single nucleotide variant not provided [RCV000829977] Chr2:50921964 [GRCh38]
Chr2:51149102 [GRCh37]
Chr2:2p16.3
benign
NM_001330078.2(NRXN1):c.3244+231G>T single nucleotide variant not provided [