NDE1 (nudE neurodevelopment protein 1) - Rat Genome Database

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Gene: NDE1 (nudE neurodevelopment protein 1) Homo sapiens
Analyze
Symbol: NDE1
Name: nudE neurodevelopment protein 1
RGD ID: 1348797
HGNC Page HGNC:17619
Description: Enables identical protein binding activity. Involved in cerebral cortex development; establishment of chromosome localization; and establishment of mitotic spindle orientation. Located in centrosome and kinetochore. Implicated in lissencephaly 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ20101; HOM-TES-87; LIS1-interacting protein NUDE1, rat homolog; LIS4; MHAC; microhydranencephaly; NDE; nuclear distribution protein nudE homolog 1; NUDE; nudE nuclear distribution E homolog 1; nudE nuclear distribution gene E homolog 1; NUDE1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: NDE1P1   NDE1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381615,643,382 - 15,726,353 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1615,643,267 - 15,734,691 (+)EnsemblGRCh38hg38GRCh38
GRCh371615,737,239 - 15,820,210 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361615,651,605 - 15,726,491 (+)NCBINCBI36Build 36hg18NCBI36
Build 341615,651,604 - 15,726,490NCBI
Celera1615,417,601 - 15,500,696 (+)NCBICelera
Cytogenetic Map16p13.11NCBI
HuRef1615,130,950 - 15,213,642 (+)NCBIHuRef
CHM1_11615,821,504 - 15,904,590 (+)NCBICHM1_1
T2T-CHM13v2.01615,648,287 - 15,731,290 (+)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)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
4-phenylbutyric acid  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcitriol  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
DDT  (ISO)
decabromodiphenyl ether  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenthion  (ISO)
fluoranthene  (ISO)
FR900359  (EXP)
glyphosate  (ISO)
menadione  (EXP)
N-methylformamide  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenylmercury acetate  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sunitinib  (EXP)
testosterone  (EXP,ISO)
topotecan  (ISO)
tributylstannane  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
4-layered lissencephaly  (IAGP)
Abnormal calvaria morphology  (IAGP)
Abnormal cerebral artery morphology  (IAGP)
Abnormal corpus striatum morphology  (IAGP)
Abnormal dura mater morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal internal carotid artery morphology  (IAGP)
Abnormal muscle tone  (IAGP)
Abnormal retinal morphology  (IAGP)
Abnormality of connective tissue  (IAGP)
Abnormality of fontanelles  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the falx cerebri  (IAGP)
Abnormality of vision  (IAGP)
Adducted thumb  (IAGP)
Agenesis of corpus callosum  (IAGP)
Antenatal intracerebral hemorrhage  (IAGP)
Aortic aneurysm  (IAGP)
Athetosis  (IAGP)
Atrial septal defect  (IAGP)
Atrophic pituitary gland  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Blindness  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral calcification  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chorioretinal atrophy  (IAGP)
Colpocephaly  (IAGP)
Congenital onset  (IAGP)
Cutis gyrata of scalp  (IAGP)
Dilatation of the ventricular cavity  (IAGP)
Dolichocephaly  (IAGP)
Dysgenesis of the thalamus  (IAGP)
Dysphagia  (IAGP)
Feeding difficulties  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hydranencephaly  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic hippocampus  (IAGP)
Hypoplastic spleen  (IAGP)
Hyporeflexia  (IAGP)
Hypotelorism  (IAGP)
Infantile sensorineural hearing impairment  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, progressive  (IAGP)
Intellectual disability, severe  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Lethargy  (IAGP)
Lissencephaly  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Meningitis  (IAGP)
Microcephaly  (IAGP)
Microlissencephaly  (IAGP)
Microretrognathia  (IAGP)
Multiple joint contractures  (IAGP)
Narrow forehead  (IAGP)
Opisthotonus  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pachygyria  (IAGP)
Patent foramen ovale  (IAGP)
Poor head control  (IAGP)
Postnatal growth retardation  (IAGP)
Primary microcephaly  (IAGP)
Profound global developmental delay  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent occiput  (IAGP)
Proptosis  (IAGP)
Reduced eye contact  (IAGP)
Respiratory distress  (IAGP)
Rocker bottom foot  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Self-mutilation  (IAGP)
Severe global developmental delay  (IAGP)
Short stature  (IAGP)
Simplified gyral pattern  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sloping forehead  (IAGP)
Small cervical vertebral bodies  (IAGP)
Small forehead  (IAGP)
Spastic diplegia  (IAGP)
Spastic tetraplegia  (IAGP)
Stiff neck  (IAGP)
Stroke  (IAGP)
Talipes equinovarus  (IAGP)
Thalamic edema  (IAGP)
Thoracic aortic aneurysm  (IAGP)
Tricuspid regurgitation  (IAGP)
Ventriculomegaly  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Direct association of LIS1, the lissencephaly gene product, with a mammalian homologue of a fungal nuclear distribution protein, rNUDE. Kitagawa M, etal., FEBS Lett 2000 Aug 11;479(1-2):57-62.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7790358   PMID:10931877   PMID:11076968   PMID:11163258   PMID:12221128   PMID:12427674   PMID:12477932   PMID:12556484   PMID:12852856   PMID:12885786   PMID:14623284   PMID:14702039  
PMID:15161933   PMID:15324660   PMID:15342556   PMID:15489334   PMID:15616553   PMID:15797709   PMID:16291865   PMID:16462731   PMID:16682949   PMID:17185386   PMID:17600710   PMID:17997972  
PMID:18178387   PMID:18303022   PMID:18469341   PMID:18469343   PMID:18983980   PMID:19000741   PMID:19468067   PMID:19946888   PMID:20048338   PMID:20072148   PMID:20084519   PMID:20360068  
PMID:21399614   PMID:21529751   PMID:21529752   PMID:21873635   PMID:21911489   PMID:22028625   PMID:22526350   PMID:22658674   PMID:22843697   PMID:23443559   PMID:23704059   PMID:24722188  
PMID:24785679   PMID:25332407   PMID:26186194   PMID:26206584   PMID:26350705   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26972000   PMID:26975893   PMID:27173435   PMID:27503909  
PMID:27534551   PMID:27553190   PMID:27646688   PMID:28266585   PMID:28380382   PMID:28514442   PMID:28718761   PMID:29142105   PMID:29162697   PMID:29507755   PMID:29509190   PMID:29562183  
PMID:29961565   PMID:30024347   PMID:30287593   PMID:31413325   PMID:31527615   PMID:32207772   PMID:32707033   PMID:32838362   PMID:33026328   PMID:33766124   PMID:33961781   PMID:34079125  
PMID:35182466   PMID:35271311   PMID:35906200   PMID:35944360   PMID:36215168   PMID:36380368   PMID:37499664   PMID:37689310   PMID:38194050   PMID:38466053  


Genomics

Comparative Map Data
NDE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381615,643,382 - 15,726,353 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1615,643,267 - 15,734,691 (+)EnsemblGRCh38hg38GRCh38
GRCh371615,737,239 - 15,820,210 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361615,651,605 - 15,726,491 (+)NCBINCBI36Build 36hg18NCBI36
Build 341615,651,604 - 15,726,490NCBI
Celera1615,417,601 - 15,500,696 (+)NCBICelera
Cytogenetic Map16p13.11NCBI
HuRef1615,130,950 - 15,213,642 (+)NCBIHuRef
CHM1_11615,821,504 - 15,904,590 (+)NCBICHM1_1
T2T-CHM13v2.01615,648,287 - 15,731,290 (+)NCBIT2T-CHM13v2.0
Nde1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391613,981,139 - 14,010,792 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1613,981,139 - 14,010,792 (+)EnsemblGRCm39 Ensembl
GRCm381614,163,275 - 14,192,928 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1614,163,275 - 14,192,928 (+)EnsemblGRCm38mm10GRCm38
MGSCv371614,163,368 - 14,193,021 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361614,083,053 - 14,106,144 (+)NCBIMGSCv36mm8
Celera1614,769,808 - 14,799,423 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map169.7NCBI
Nde1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8101,347,010 - 1,391,167 (-)NCBIGRCr8
mRatBN7.210839,788 - 883,946 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10839,788 - 883,869 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx105,536,557 - 5,572,975 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01034,992,867 - 35,029,285 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010852,733 - 889,160 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010860,513 - 904,624 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10860,521 - 896,938 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01011,539,735 - 11,584,847 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01013,001 - 24,016 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410777,877 - 814,260 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110777,876 - 814,260 (-)NCBI
Celera1011,429,415 - 11,465,811 (-)NCBICelera
Cytogenetic Map10q11NCBI
Nde1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955442495,704 - 542,976 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955442495,704 - 530,296 (+)NCBIChiLan1.0ChiLan1.0
NDE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21815,700,179 - 15,781,380 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11619,483,154 - 19,564,415 (+)NCBINHGRI_mPanPan1
PanPan1.11615,948,881 - 16,004,208 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1615,948,881 - 16,027,986 (+)Ensemblpanpan1.1panPan2
NDE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1628,143,244 - 28,186,069 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl628,143,244 - 28,186,051 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha629,506,656 - 29,549,398 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0628,306,487 - 28,349,314 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl628,304,024 - 28,349,323 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1628,109,441 - 28,152,348 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0627,999,465 - 28,042,161 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0628,404,915 - 28,447,832 (-)NCBIUU_Cfam_GSD_1.0
Nde1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344115,096,073 - 115,138,607 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365013,193,916 - 3,221,700 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365013,193,962 - 3,234,640 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl37,125,936 - 7,180,623 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.137,145,094 - 7,174,691 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NDE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1514,670,559 - 14,720,025 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl514,684,215 - 14,722,192 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606815,318,463 - 15,370,071 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nde1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624782236,735 - 268,516 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624782236,715 - 284,200 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NDE1
1324 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000230875]|Familial aortopathy [RCV000030299]|Familial thoracic aortic aneurysm and aortic dissection [RCV000252040]|Lissencephaly 4 [RCV000279480]|not provided [RCV001811214]|not specified [RCV000126956] Chr16:15720860 [GRCh38]
Chr16:15814717 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000554857]|Aortic aneurysm, familial thoracic 4 [RCV002482921]|Connective tissue disorder [RCV000659924]|Familial thoracic aortic aneurysm and aortic dissection [RCV000611869]|not provided [RCV000762209]|not specified [RCV000182562] Chr16:15720243 [GRCh38]
Chr16:15814100 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
NM_002474.3(MYH11):c.4848T>C (p.Ala1616=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000544566]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341331] Chr16:15720256 [GRCh38]
Chr16:15814113 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4663C>T (p.Leu1555=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000528401]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183475] Chr16:15720967 [GRCh38]
Chr16:15814824 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.684_685del (p.Pro229fs) microsatellite Lissencephaly 4 [RCV000023769]|NDE1-related microhydranencephaly [RCV003129756]|not provided [RCV001852028] Chr16:15691300..15691301 [GRCh38]
Chr16:15785157..15785158 [GRCh37]
Chr16:16p13.11		 pathogenic
NG_021210.1:g.26596G>T single nucleotide variant Lissencephaly 4 [RCV000023770] Chr16:16p13.1 pathogenic
NM_017668.3(NDE1):c.733dup (p.Leu245fs) duplication Lissencephaly 4 [RCV000023771] Chr16:15694188..15694189 [GRCh38]
Chr16:15788045..15788046 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_017668.3(NDE1):c.84-145G>A single nucleotide variant not provided [RCV001564228] Chr16:15667141 [GRCh38]
Chr16:15760998 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-5885G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641634] Chr16:15718306 [GRCh38]
Chr16:15812163 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.947+4A>G single nucleotide variant not provided [RCV000728309] Chr16:15696864 [GRCh38]
Chr16:15790721 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4888G>C (p.Glu1630Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000544206] Chr16:15720216 [GRCh38]
Chr16:15814073 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4748G>A (p.Arg1583Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000531179]|not provided [RCV000996217] Chr16:15720882 [GRCh38]
Chr16:15814739 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000525433]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182232]|not provided [RCV001575927] Chr16:15718339 [GRCh38]
Chr16:15812196 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 16p13.11(chr16:14874998-16100721)x3 copy number gain See cases [RCV000050353] Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:14876356..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14874998-16100721)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050356]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050356]|See cases [RCV000050356] Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x1 copy number loss See cases [RCV000050779] Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:14956252..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1 copy number loss See cases [RCV000050818] Chr16:14816348..18047194 [GRCh38]
Chr16:14910205..18141051 [GRCh37]
Chr16:14817706..18048552 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1 copy number loss See cases [RCV000050970] Chr16:14816348..18658403 [GRCh38]
Chr16:14910205..18669725 [GRCh37]
Chr16:14817706..18577226 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3 copy number gain See cases [RCV000050861] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050863]|Hyperactivity [RCV000050864]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050863]|See cases [RCV000050863] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050778]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050778]|See cases [RCV000050778] Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 copy number gain See cases [RCV000050601] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x3 copy number gain See cases [RCV000050720] Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x1 copy number loss See cases [RCV000050722] Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:14874998-16034020)x3 copy number gain Cleft upper lip [RCV000050367]|See cases [RCV000050367] Chr16:14874998..16034020 [GRCh38]
Chr16:14968855..16127877 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050377]|See cases [RCV000050377] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668382-16678513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051357]|See cases [RCV000051357] Chr16:14668382..16678513 [GRCh38]
Chr16:14762239..16772370 [GRCh37]
Chr16:14669740..16679871 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14717194-16450842)x3 copy number gain See cases [RCV000051358] Chr16:14717194..16450842 [GRCh38]
Chr16:14811051..16544699 [GRCh37]
Chr16:14718552..16452200 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14717194-16508540)x3 copy number gain See cases [RCV000051359] Chr16:14717194..16508540 [GRCh38]
Chr16:14811051..16602397 [GRCh37]
Chr16:14718552..16509898 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816148-16100862)x3 copy number gain See cases [RCV000051360] Chr16:14816148..16100862 [GRCh38]
Chr16:14910005..16194719 [GRCh37]
Chr16:14817506..16102220 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816148-16431632)x3 copy number gain See cases [RCV000051387] Chr16:14816148..16431632 [GRCh38]
Chr16:14910005..16525489 [GRCh37]
Chr16:14817506..16432990 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16148900)x3 copy number gain See cases [RCV000051390] Chr16:14816348..16148900 [GRCh38]
Chr16:14910205..16242757 [GRCh37]
Chr16:14817706..16150258 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3 copy number gain See cases [RCV000051392] Chr16:14816348..16633564 [GRCh38]
Chr16:14910205..16727421 [GRCh37]
Chr16:14817706..16634922 [NCBI36]
Chr16:16p13.11		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:14823949-16281234)x3 copy number gain See cases [RCV000051393] Chr16:14823949..16281234 [GRCh38]
Chr16:14917806..16375091 [GRCh37]
Chr16:14825307..16282592 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14850703-16211879)x3 copy number gain See cases [RCV000051396] Chr16:14850703..16211879 [GRCh38]
Chr16:14944560..16305736 [GRCh37]
Chr16:14852061..16213237 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14907656-16206199)x3 copy number gain See cases [RCV000051397] Chr16:14907656..16206199 [GRCh38]
Chr16:15001513..16300056 [GRCh37]
Chr16:14909014..16207557 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14907656-16281234)x3 copy number gain See cases [RCV000051398] Chr16:14907656..16281234 [GRCh38]
Chr16:15001513..16375091 [GRCh37]
Chr16:14909014..16282592 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15050263-18212997)x3 copy number gain See cases [RCV000051399] Chr16:15050263..18212997 [GRCh38]
Chr16:15144120..18306854 [GRCh37]
Chr16:15051621..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3 copy number gain See cases [RCV000051353] Chr16:14609647..18765817 [GRCh38]
Chr16:14703504..18777139 [GRCh37]
Chr16:14611005..18684640 [NCBI36]
Chr16:16p13.12-12.3		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3 copy number gain See cases [RCV000051354] Chr16:14639096..16431491 [GRCh38]
Chr16:14732953..16525348 [GRCh37]
Chr16:14640454..16432849 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668182-16493213)x3 copy number gain See cases [RCV000051355] Chr16:14668182..16493213 [GRCh38]
Chr16:14762039..16587070 [GRCh37]
Chr16:14669540..16494571 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668382-16100721)x3 copy number gain See cases [RCV000051356] Chr16:14668382..16100721 [GRCh38]
Chr16:14762239..16194578 [GRCh37]
Chr16:14669740..16102079 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18658403)x3 copy number gain See cases [RCV000051141] Chr16:15457445..18658403 [GRCh38]
Chr16:15551302..18669725 [GRCh37]
Chr16:15458803..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3 copy number gain See cases [RCV000051001] Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1 copy number loss See cases [RCV000051002] Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15140576-18658403)x1 copy number loss See cases [RCV000051057] Chr16:15140576..18658403 [GRCh38]
Chr16:15234433..18669725 [GRCh37]
Chr16:15141934..18577226 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1 copy number loss See cases [RCV000052487] Chr16:14823949..18055828 [GRCh38]
Chr16:14917806..18149685 [GRCh37]
Chr16:14825307..18057186 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14874798-16100862)x1 copy number loss See cases [RCV000052488] Chr16:14874798..16100862 [GRCh38]
Chr16:14968655..16194719 [GRCh37]
Chr16:14876156..16102220 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14954694-16100862)x1 copy number loss See cases [RCV000052505] Chr16:14954694..16100862 [GRCh38]
Chr16:15048551..16194719 [GRCh37]
Chr16:14956052..16102220 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15310395-18213149)x1 copy number loss See cases [RCV000052512] Chr16:15310395..18213149 [GRCh38]
Chr16:15404252..18307006 [GRCh37]
Chr16:15311753..18214507 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x3 copy number gain See cases [RCV000052515] Chr16:15434653..18055828 [GRCh38]
Chr16:15528510..18149685 [GRCh37]
Chr16:15436011..18057186 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x1 copy number loss See cases [RCV000052516] Chr16:15434653..18055828 [GRCh38]
Chr16:15528510..18149685 [GRCh37]
Chr16:15436011..18057186 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:15434653-16281234)x1 copy number loss See cases [RCV000052517] Chr16:15434653..16281234 [GRCh38]
Chr16:15528510..16375091 [GRCh37]
Chr16:15436011..16282592 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15060830-18212997)x3 copy number gain See cases [RCV000053093] Chr16:15060830..18212997 [GRCh38]
Chr16:15154687..18306854 [GRCh37]
Chr16:15062188..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15185940-18658544)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|See cases [RCV000053094] Chr16:15185940..18658544 [GRCh38]
Chr16:15279797..18669866 [GRCh37]
Chr16:15187298..18577367 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 copy number gain See cases [RCV000053095] Chr16:15186140..18658403 [GRCh38]
Chr16:15279997..18669725 [GRCh37]
Chr16:15187498..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15457445-17169859)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053308]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053308]|See cases [RCV000053308] Chr16:15457445..17169859 [GRCh38]
Chr16:15551302..17263716 [GRCh37]
Chr16:15458803..17171217 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 copy number gain See cases [RCV000053096] Chr16:15186140..18620659 [GRCh38]
Chr16:15279997..18631981 [GRCh37]
Chr16:15187498..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:15187330-16281234)x3 copy number gain See cases [RCV000053097] Chr16:15187330..16281234 [GRCh38]
Chr16:15281187..16375091 [GRCh37]
Chr16:15188688..16282592 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15299037-18267893)x3 copy number gain See cases [RCV000053098] Chr16:15299037..18267893 [GRCh38]
Chr16:15392894..18361750 [GRCh37]
Chr16:15300395..18269251 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3 copy number gain See cases [RCV000053099] Chr16:15310595..18620659 [GRCh38]
Chr16:15404452..18631981 [GRCh37]
Chr16:15311953..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398460-18047194)x3 copy number gain See cases [RCV000053102] Chr16:15398460..18047194 [GRCh38]
Chr16:15492317..18141051 [GRCh37]
Chr16:15399818..18048552 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
NM_002474.3(MYH11):c.5078A>G (p.Gln1693Arg) single nucleotide variant Connective tissue disorder [RCV000659925] Chr16:15719589 [GRCh38]
Chr16:15813446 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4255G>C (p.Glu1419Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000659919]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524953] Chr16:15724271 [GRCh38]
Chr16:15818128 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-4460del deletion Familial aortopathy [RCV000030301] Chr16:15719729 [GRCh38]
Chr16:15813586 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-5889A>G single nucleotide variant Familial aortopathy [RCV000030304] Chr16:15718302 [GRCh38]
Chr16:15812159 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.1(MYH11):c.5152G>A (p.Glu1718Lys) single nucleotide variant Malignant melanoma [RCV000070998] Chr16:15719260 [GRCh38]
Chr16:15813117 [GRCh37]
Chr16:15720618 [NCBI36]
Chr16:16p13.11		 not provided
NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000701003]|Connective tissue disorder [RCV000659916]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773634]|not provided [RCV000762211] Chr16:15724977 [GRCh38]
Chr16:15818834 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5722G>A (p.Asp1908Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000659930] Chr16:15714973 [GRCh38]
Chr16:15808830 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.704-1G>A single nucleotide variant not provided [RCV000079548] Chr16:15694164 [GRCh38]
Chr16:15788021 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_017668.3(NDE1):c.948-5739G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000625178]|Familial aortopathy [RCV000030303]|Familial thoracic aortic aneurysm and aortic dissection [RCV000261295]|Lissencephaly 4 [RCV001121132]|Lissencephaly, Recessive [RCV000314142]|not provided [RCV001811215]|not specified [RCV000177908] Chr16:15718452 [GRCh38]
Chr16:15812309 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) single nucleotide variant Lissencephaly 4 [RCV001117338]|NDE1-related condition [RCV003925254]|not provided [RCV000514492]|not specified [RCV000146494] Chr16:15691192 [GRCh38]
Chr16:15785049 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.837C>T (p.Tyr279=) single nucleotide variant Lissencephaly 4 [RCV000371527]|not provided [RCV002055697]|not specified [RCV000146500] Chr16:15696750 [GRCh38]
Chr16:15790607 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001143979.2(NDE1):c.-94C>T single nucleotide variant Lissencephaly 4 [RCV000281015]|not specified [RCV000127095] Chr16:15649419 [GRCh38]
Chr16:15743276 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11-12.3(chr16:15457516-17564653)x3 copy number gain not provided [RCV002292935] Chr16:15457516..17564653 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_017668.3(NDE1):c.948-9294C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002064188]|not specified [RCV000602844] Chr16:15714897 [GRCh38]
Chr16:15808754 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000467652]|Cardiovascular phenotype [RCV000617351]|Familial thoracic aortic aneurysm and aortic dissection [RCV000242975]|Lissencephaly 4 [RCV001116427]|Lissencephaly, Recessive [RCV000274667]|not provided [RCV001812081]|not specified [RCV000126945] Chr16:15724985 [GRCh38]
Chr16:15818842 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000473858]|Cardiovascular phenotype [RCV000622097]|Familial thoracic aortic aneurysm and aortic dissection [RCV000250829]|Lissencephaly 4 [RCV001121347]|Lissencephaly, Recessive [RCV000383596]|not provided [RCV001812082]|not specified [RCV000126946] Chr16:15724796 [GRCh38]
Chr16:15818653 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.4095C>T (p.His1365=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000232924]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777692]|Lissencephaly, Recessive [RCV000262576]|MYH11-related condition [RCV003945134]|not specified [RCV000126947] Chr16:15724668 [GRCh38]
Chr16:15818525 [GRCh37]
Chr16:16p13.11		 benign|likely benign|uncertain significance
NM_017668.3(NDE1):c.*384C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000298077]|Lissencephaly 4 [RCV001119328]|Lissencephaly, Recessive [RCV000353000]|not provided [RCV001812083]|not specified [RCV000126948] Chr16:15724635 [GRCh38]
Chr16:15818492 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000474754]|Cardiovascular phenotype [RCV000619106]|Familial thoracic aortic aneurysm and aortic dissection [RCV000244031]|Lissencephaly 4 [RCV001116326]|not provided [RCV000757514]|not specified [RCV000126949] Chr16:15724368 [GRCh38]
Chr16:15818225 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000609871]|Cardiovascular phenotype [RCV000617695]|Familial thoracic aortic aneurysm and aortic dissection [RCV000250056]|Lissencephaly 4 [RCV001116324]|Lissencephaly, Recessive [RCV000316233]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775609]|Visceral myopathy 2 [RCV001775610]|not provided [RCV001705917]|not specified [RCV000126950] Chr16:15724284 [GRCh38]
Chr16:15818141 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000229335]|Familial thoracic aortic aneurysm and aortic dissection [RCV000247892]|Lissencephaly, Recessive [RCV000322004]|not provided [RCV001812084]|not specified [RCV000126951] Chr16:15721599 [GRCh38]
Chr16:15815456 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001081210]|Connective tissue disorder [RCV000659920]|Familial thoracic aortic aneurysm and aortic dissection [RCV000245430]|not provided [RCV000589993]|not specified [RCV000126952] Chr16:15721494 [GRCh38]
Chr16:15815351 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000471823]|Cardiovascular phenotype [RCV000244209]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769663]|not provided [RCV001812085]|not specified [RCV000126953] Chr16:15721478 [GRCh38]
Chr16:15815335 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017668.3(NDE1):c.948-2772T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000203113]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769662]|not provided [RCV000857983]|not specified [RCV000126954] Chr16:15721419 [GRCh38]
Chr16:15815276 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.948-3127C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001094458]|Familial thoracic aortic aneurysm and aortic dissection [RCV000309874]|Lissencephaly 4 [RCV001121239]|Lissencephaly, Recessive [RCV000362570]|not provided [RCV003736597]|not specified [RCV000126955] Chr16:15721064 [GRCh38]
Chr16:15814921 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.948-3356G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001001930]|Connective tissue disorder [RCV000659923]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769660]|not provided [RCV001812086]|not specified [RCV000126957] Chr16:15720835 [GRCh38]
Chr16:15814692 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001078942]|Connective tissue disorder [RCV000659926]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776298]|not provided [RCV002292435]|not specified [RCV000126958] Chr16:15719231 [GRCh38]
Chr16:15813088 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017668.3(NDE1):c.948-6839G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000234125]|Cardiovascular phenotype [RCV000617112]|Familial thoracic aortic aneurysm and aortic dissection [RCV000247934]|Lissencephaly, Recessive [RCV000387242]|not provided [RCV001572733]|not specified [RCV000126960] Chr16:15717352 [GRCh38]
Chr16:15811209 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000464250]|Familial thoracic aortic aneurysm and aortic dissection [RCV000248755]|not provided [RCV001723697]|not specified [RCV000146504] Chr16:15717274 [GRCh38]
Chr16:15811131 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.5379G>A (p.Gln1793=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001494681]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177613]|not provided [RCV001812087]|not specified [RCV000126962] Chr16:15717265 [GRCh38]
Chr16:15811122 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000601977]|Cardiovascular phenotype [RCV000622103]|Familial thoracic aortic aneurysm and aortic dissection [RCV000245108]|Lissencephaly 4 [RCV000304468]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775611]|Visceral myopathy 2 [RCV001775612]|not provided [RCV001812088]|not specified [RCV000146505] Chr16:15717205 [GRCh38]
Chr16:15811062 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000614501]|Cardiovascular phenotype [RCV000619131]|Familial thoracic aortic aneurysm and aortic dissection [RCV000253101]|Lissencephaly 4 [RCV000344115]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775613]|Visceral myopathy 2 [RCV001775614]|not provided [RCV001812089]|not specified [RCV000146506] Chr16:15717166 [GRCh38]
Chr16:15811023 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017668.3(NDE1):c.948-7059C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001001814]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770690]|not provided [RCV001812090]|not specified [RCV000126965] Chr16:15717132 [GRCh38]
Chr16:15810989 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000460816]|Cardiovascular phenotype [RCV000618634]|Familial thoracic aortic aneurysm and aortic dissection [RCV000245881]|Lissencephaly 4 [RCV000292243]|not provided [RCV001812091]|not specified [RCV000126966] Chr16:15715260 [GRCh38]
Chr16:15809117 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000464298]|Connective tissue disorder [RCV000680549]|Familial thoracic aortic aneurysm and aortic dissection [RCV000242448]|Lissencephaly, Recessive [RCV000371604]|not provided [RCV001092817]|not specified [RCV000126967] Chr16:15715211 [GRCh38]
Chr16:15809068 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000475215]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776051]|not provided [RCV001311430]|not specified [RCV000126968] Chr16:15715019 [GRCh38]
Chr16:15808876 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001081493]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770689]|not provided [RCV000755309]|not specified [RCV000126969] Chr16:15715004 [GRCh38]
Chr16:15808861 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001000273]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770688]|Lissencephaly 4 [RCV000321069]|not specified [RCV000126970] Chr16:15714938 [GRCh38]
Chr16:15808795 [GRCh37]
Chr16:16p13.11		 benign|likely benign|uncertain significance
NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys) single nucleotide variant Aortic aneurysm [RCV000148693]|Aortic aneurysm, familial thoracic 4 [RCV000689687]|Aortic aneurysm, familial thoracic 4 [RCV002478413]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804858] Chr16:15720162 [GRCh38]
Chr16:15814019 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14899676-16516109) copy number loss Hydrocephalus [RCV002280699] Chr16:14899676..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897372-16513267) copy number loss Seizure [RCV002280701] Chr16:14897372..16513267 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16533890) copy number gain 16p13.11 microduplication syndrome [RCV002280703] Chr16:14892880..16533890 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000148691]|Familial thoracic aortic aneurysm and aortic dissection [RCV000611174]|not provided [RCV000182528]|not specified [RCV001174812] Chr16:15718337 [GRCh38]
Chr16:15812194 [GRCh37]
Chr16:16p13.11		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1 copy number loss See cases [RCV000050863] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11		 pathogenic
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs) duplication Aortic aneurysm, familial thoracic 4 [RCV001080935]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770685]|MYH11-related condition [RCV003955317]|not provided [RCV000228343]|not specified [RCV000482351] Chr16:15708829..15708830 [GRCh38]
Chr16:15802686..15802687 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.11(chr16:15492317-16292235) copy number gain Autism with high cognitive abilities [RCV001291950] Chr16:15492317..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000229023]|Familial thoracic aortic aneurysm and aortic dissection [RCV000388279]|not provided [RCV003886379]|not specified [RCV000143927] Chr16:15717308 [GRCh38]
Chr16:15811165 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.568A>G (p.Arg190Gly) single nucleotide variant NDE1-related microhydranencephaly [RCV001331717] Chr16:15691188 [GRCh38]
Chr16:15785045 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
NC_000016.10:g.(?_15703134)_(16223472_?)del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006946] Chr16:15703134..16223472 [GRCh38]
Chr16:15796991..16317329 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x3 copy number gain See cases [RCV000050778] Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:14956252..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14874998-16100721)x1 copy number loss See cases [RCV000050356] Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:14876356..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14874998-16034020)x3 copy number gain See cases [RCV000050367] Chr16:14874998..16034020 [GRCh38]
Chr16:14968855..16127877 [GRCh37]
Chr16:14876356..16035378 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 copy number gain See cases [RCV000050377] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:15458803..18048552 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
NM_017668.3(NDE1):c.947+7126G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001117450]|Familial thoracic aortic aneurysm and aortic dissection [RCV000254041]|Lissencephaly 4 [RCV000279137]|not specified [RCV000126971] Chr16:15703986 [GRCh38]
Chr16:15797843 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017668.3(NDE1):c.386+41C>G single nucleotide variant not provided [RCV001711306]|not specified [RCV000146493] Chr16:15677990 [GRCh38]
Chr16:15771847 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.623C>T (p.Ala208Val) single nucleotide variant Lissencephaly 4 [RCV000146495]|not specified [RCV000171245] Chr16:15691243 [GRCh38]
Chr16:15785100 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
NM_017668.3(NDE1):c.658C>T (p.Arg220Ter) single nucleotide variant Lissencephaly 4 [RCV000146496] Chr16:15691278 [GRCh38]
Chr16:15785135 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_017668.3(NDE1):c.726G>A (p.Gly242=) single nucleotide variant not specified [RCV000146497] Chr16:15694187 [GRCh38]
Chr16:15788044 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.741T>G (p.Pro247=) single nucleotide variant not provided [RCV003736604]|not specified [RCV000146498] Chr16:15694202 [GRCh38]
Chr16:15788059 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.744G>A (p.Ala248=) single nucleotide variant Lissencephaly 4 [RCV000146499]|not provided [RCV000892599] Chr16:15694205 [GRCh38]
Chr16:15788062 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.84-5T>C single nucleotide variant Lissencephaly 4 [RCV000146501] Chr16:15667281 [GRCh38]
Chr16:15761138 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) single nucleotide variant Intellectual disability [RCV001252592]|Lissencephaly 4 [RCV000146502]|NDE1-related microhydranencephaly [RCV000764027]|not provided [RCV001711408] Chr16:15696785 [GRCh38]
Chr16:15790642 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.948-53G>A single nucleotide variant not provided [RCV000834589]|not specified [RCV000146503] Chr16:15724138 [GRCh38]
Chr16:15817995 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.956C>T (p.Thr319Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000805937]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312962]|Lissencephaly 4 [RCV000146507]|not provided [RCV001092820]|not specified [RCV000516410] Chr16:15724199 [GRCh38]
Chr16:15818056 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15398450-16211820)x1 copy number loss See cases [RCV000134456] Chr16:15398450..16211820 [GRCh38]
Chr16:15492307..16305677 [GRCh37]
Chr16:15399808..16213178 [NCBI36]
Chr16:16p13.11		 pathogenic|likely pathogenic|conflicting data from submitters
NM_002474.3(MYH11):c.5435_5440dup (p.Phe1812_Lys1813dup) duplication Aortic aneurysm, familial thoracic 4 [RCV000203002] Chr16:15717203..15717204 [GRCh38]
Chr16:15811060..15811061 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14954875-16100718)x3 copy number gain See cases [RCV000134080] Chr16:14954875..16100718 [GRCh38]
Chr16:15048732..16194575 [GRCh37]
Chr16:14956233..16102076 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14716125-16383721)x1 copy number loss See cases [RCV000135322] Chr16:14716125..16383721 [GRCh38]
Chr16:14809982..16477578 [GRCh37]
Chr16:14717483..16385079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x1 copy number loss See cases [RCV000135502] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3 copy number gain See cases [RCV000135525] Chr16:14816348..16580464 [GRCh38]
Chr16:14910205..16674321 [GRCh37]
Chr16:14817706..16581822 [NCBI36]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:15457445-16633564)x3 copy number gain See cases [RCV000136541] Chr16:15457445..16633564 [GRCh38]
Chr16:15551302..16727421 [GRCh37]
Chr16:15458803..16634922 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15457205-16100718)x3 copy number gain See cases [RCV000135975] Chr16:15457205..16100718 [GRCh38]
Chr16:15551062..16194575 [GRCh37]
Chr16:15458563..16102076 [NCBI36]
Chr16:16p13.11		 conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15060830-18535437)x3 copy number gain See cases [RCV000136807] Chr16:15060830..18535437 [GRCh38]
Chr16:15154687..18546759 [GRCh37]
Chr16:15062188..18454260 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16467294)x3 copy number gain See cases [RCV000137429] Chr16:14783830..16467294 [GRCh38]
Chr16:14877687..16561151 [GRCh37]
Chr16:14785188..16468652 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15261472-18768479)x3 copy number gain See cases [RCV000137451] Chr16:15261472..18768479 [GRCh38]
Chr16:15355329..18779801 [GRCh37]
Chr16:15262830..18687302 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3 copy number gain See cases [RCV000137543] Chr16:14783830..18680735 [GRCh38]
Chr16:14877687..18692057 [GRCh37]
Chr16:14785188..18599558 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18726698)x3 copy number gain See cases [RCV000137588] Chr16:15194583..18726698 [GRCh38]
Chr16:15288440..18738020 [GRCh37]
Chr16:15195941..18645521 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18783183)x3 copy number gain See cases [RCV000137700] Chr16:15186140..18783183 [GRCh38]
Chr16:15279997..18794505 [GRCh37]
Chr16:15187498..18702006 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000202728]|Aortic aneurysm, familial thoracic 4 [RCV003448286]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184303]|not provided [RCV000757517] Chr16:15719615 [GRCh38]
Chr16:15813472 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18170423)x3 copy number gain See cases [RCV000137491] Chr16:15194583..18170423 [GRCh38]
Chr16:15288440..18264280 [GRCh37]
Chr16:15195941..18171781 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14783830-16753905)x3 copy number gain See cases [RCV000137632] Chr16:14783830..16753905 [GRCh38]
Chr16:14877687..16847762 [GRCh37]
Chr16:14785188..16755263 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18214016)x3 copy number gain See cases [RCV000137336] Chr16:15194583..18214016 [GRCh38]
Chr16:15288440..18307873 [GRCh37]
Chr16:15195941..18215374 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:14783830-16741305)x3 copy number gain See cases [RCV000137408] Chr16:14783830..16741305 [GRCh38]
Chr16:14877687..16835162 [GRCh37]
Chr16:14785188..16742663 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816259-16431491)x1 copy number loss See cases [RCV000138037] Chr16:14816259..16431491 [GRCh38]
Chr16:14910116..16525348 [GRCh37]
Chr16:14817617..16432849 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15345033-16431491)x3 copy number gain See cases [RCV000138207] Chr16:15345033..16431491 [GRCh38]
Chr16:15438890..16525348 [GRCh37]
Chr16:15346391..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14783830-16234088)x1 copy number loss See cases [RCV000138104] Chr16:14783830..16234088 [GRCh38]
Chr16:14877687..16327945 [GRCh37]
Chr16:14785188..16235446 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18236409)x3 copy number gain See cases [RCV000138003] Chr16:15194583..18236409 [GRCh38]
Chr16:15288440..18330266 [GRCh37]
Chr16:15195941..18237767 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18212997)x1 copy number loss See cases [RCV000138168] Chr16:15398450..18212997 [GRCh38]
Chr16:15492307..18306854 [GRCh37]
Chr16:15399808..18214355 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15345033-16753905)x3 copy number gain See cases [RCV000137763] Chr16:15345033..16753905 [GRCh38]
Chr16:15438890..16847762 [GRCh37]
Chr16:15346391..16755263 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16268850)x3 copy number gain See cases [RCV000137801] Chr16:14783830..16268850 [GRCh38]
Chr16:14877687..16362707 [GRCh37]
Chr16:14785188..16270208 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457205-18212984)x1 copy number loss See cases [RCV000138825] Chr16:15457205..18212984 [GRCh38]
Chr16:15551062..18306841 [GRCh37]
Chr16:15458563..18214342 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16198378)x1 copy number loss See cases [RCV000138522] Chr16:14783830..16198378 [GRCh38]
Chr16:14877687..16292235 [GRCh37]
Chr16:14785188..16199736 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3 copy number gain See cases [RCV000138254] Chr16:14783830..18768479 [GRCh38]
Chr16:14877687..18779801 [GRCh37]
Chr16:14785188..18687302 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15398450-16198378)x1 copy number loss See cases [RCV000138525] Chr16:15398450..16198378 [GRCh38]
Chr16:15492307..16292235 [GRCh37]
Chr16:15399808..16199736 [NCBI36]
Chr16:16p13.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18768479)x3 copy number gain See cases [RCV000138546] Chr16:15186140..18768479 [GRCh38]
Chr16:15279997..18779801 [GRCh37]
Chr16:15187498..18687302 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14832186-16741305)x3 copy number gain See cases [RCV000139447] Chr16:14832186..16741305 [GRCh38]
Chr16:14926043..16835162 [GRCh37]
Chr16:14833544..16742663 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14954894-16198378)x1 copy number loss See cases [RCV000139438] Chr16:14954894..16198378 [GRCh38]
Chr16:15048751..16292235 [GRCh37]
Chr16:14956252..16199736 [NCBI36]
Chr16:16p13.11		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11(chr16:15345033-16268850)x3 copy number gain See cases [RCV000139195] Chr16:15345033..16268850 [GRCh38]
Chr16:15438890..16362707 [GRCh37]
Chr16:15346391..16270208 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18535419)x3 copy number gain See cases [RCV000139051] Chr16:15184811..18535419 [GRCh38]
Chr16:15278668..18546741 [GRCh37]
Chr16:15186169..18454242 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15388063-16450562)x3 copy number gain See cases [RCV000139898] Chr16:15388063..16450562 [GRCh38]
Chr16:15481920..16544419 [GRCh37]
Chr16:15389421..16451920 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18068310)x1 copy number loss See cases [RCV000139649] Chr16:15398450..18068310 [GRCh38]
Chr16:15492307..18162167 [GRCh37]
Chr16:15399808..18069668 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16431491)x4 copy number gain See cases [RCV000141231] Chr16:14783830..16431491 [GRCh38]
Chr16:14877687..16525348 [GRCh37]
Chr16:14785188..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15388063-16234983)x3 copy number gain See cases [RCV000140897] Chr16:15388063..16234983 [GRCh38]
Chr16:15481920..16328840 [GRCh37]
Chr16:15389421..16236341 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15344307-16294387)x3 copy number gain See cases [RCV000140800] Chr16:15344307..16294387 [GRCh38]
Chr16:15438164..16388244 [GRCh37]
Chr16:15345665..16295745 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14799872-16440033)x3 copy number gain See cases [RCV000140802] Chr16:14799872..16440033 [GRCh38]
Chr16:14893729..16533890 [GRCh37]
Chr16:14801230..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15128213-18577521)x3 copy number gain See cases [RCV000140646] Chr16:15128213..18577521 [GRCh38]
Chr16:15222070..18588843 [GRCh37]
Chr16:15129571..18496344 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18068310)x3 copy number gain See cases [RCV000140664] Chr16:15186140..18068310 [GRCh38]
Chr16:15279997..18162167 [GRCh37]
Chr16:15187498..18069668 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14806311-16439385)x3 copy number gain See cases [RCV000140931] Chr16:14806311..16439385 [GRCh38]
Chr16:14900168..16533242 [GRCh37]
Chr16:14807669..16440743 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14686278-16431491)x3 copy number gain See cases [RCV000140727] Chr16:14686278..16431491 [GRCh38]
Chr16:14780135..16525348 [GRCh37]
Chr16:14687636..16432849 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14783830-16450901)x3 copy number gain See cases [RCV000140763] Chr16:14783830..16450901 [GRCh38]
Chr16:14877687..16544758 [GRCh37]
Chr16:14785188..16452259 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14799175-16450562)x3 copy number gain See cases [RCV000141937] Chr16:14799175..16450562 [GRCh38]
Chr16:14893032..16544419 [GRCh37]
Chr16:14800533..16451920 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15388063-16232220)x3 copy number gain See cases [RCV000141942] Chr16:15388063..16232220 [GRCh38]
Chr16:15481920..16326077 [GRCh37]
Chr16:15389421..16233578 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14799023-16440033)x3 copy number gain See cases [RCV000141961] Chr16:14799023..16440033 [GRCh38]
Chr16:14892880..16533890 [GRCh37]
Chr16:14800381..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14805819-16420254)x1 copy number loss See cases [RCV000141894] Chr16:14805819..16420254 [GRCh38]
Chr16:14899676..16514111 [GRCh37]
Chr16:14807177..16421612 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15382367-16450562)x3 copy number gain See cases [RCV000141850] Chr16:15382367..16450562 [GRCh38]
Chr16:15476224..16544419 [GRCh37]
Chr16:15383725..16451920 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14802528-16236815)x1 copy number loss See cases [RCV000141748] Chr16:14802528..16236815 [GRCh38]
Chr16:14896385..16330672 [GRCh37]
Chr16:14803886..16238173 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14772426-16440033)x3 copy number gain See cases [RCV000141751] Chr16:14772426..16440033 [GRCh38]
Chr16:14866283..16533890 [GRCh37]
Chr16:14773784..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14772427-16298053)x1 copy number loss See cases [RCV000141796] Chr16:14772427..16298053 [GRCh38]
Chr16:14866284..16391910 [GRCh37]
Chr16:14773785..16299411 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15325296-18078611)x3 copy number gain See cases [RCV000141667] Chr16:15325296..18078611 [GRCh38]
Chr16:15419153..18172468 [GRCh37]
Chr16:15326654..18079969 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
NM_001040113.2(MYH11):c.5822A>G (p.Gln1941Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000203125]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189909]|not provided [RCV001775667] Chr16:15708827 [GRCh38]
Chr16:15802684 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14874998-16034020)x1 copy number loss See cases [RCV000142443] Chr16:14874998..16034020 [GRCh38]
Chr16:14968855..16127877 [GRCh37]
Chr16:14876356..16035378 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14806274-16440033)x3 copy number gain See cases [RCV000142352] Chr16:14806274..16440033 [GRCh38]
Chr16:14900131..16533890 [GRCh37]
Chr16:14807632..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14803768-16400926)x1 copy number loss See cases [RCV000142363] Chr16:14803768..16400926 [GRCh38]
Chr16:14897625..16494783 [GRCh37]
Chr16:14805126..16402284 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14956111-16202043)x1 copy number loss See cases [RCV000142256] Chr16:14956111..16202043 [GRCh38]
Chr16:15049968..16295900 [GRCh37]
Chr16:14957469..16203401 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14803931-16199448)x3 copy number gain See cases [RCV000142280] Chr16:14803931..16199448 [GRCh38]
Chr16:14897788..16293305 [GRCh37]
Chr16:14805289..16200806 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15218552-18148856)x3 copy number gain See cases [RCV000142135] Chr16:15218552..18148856 [GRCh38]
Chr16:15312409..18242713 [GRCh37]
Chr16:15219910..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15387890-16294387)x1 copy number loss See cases [RCV000142066] Chr16:15387890..16294387 [GRCh38]
Chr16:15481747..16388244 [GRCh37]
Chr16:15389248..16295745 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15356432-16364551)x3 copy number gain See cases [RCV000142145] Chr16:15356432..16364551 [GRCh38]
Chr16:15450289..16458408 [GRCh37]
Chr16:15357790..16365909 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14806325-16450161)x3 copy number gain See cases [RCV000142084] Chr16:14806325..16450161 [GRCh38]
Chr16:14900182..16544018 [GRCh37]
Chr16:14807683..16451519 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15034128-16427245)x3 copy number gain See cases [RCV000142092] Chr16:15034128..16427245 [GRCh38]
Chr16:15127985..16521102 [GRCh37]
Chr16:15035486..16428603 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15398450-16268850)x1 copy number loss See cases [RCV000143025] Chr16:15398450..16268850 [GRCh38]
Chr16:15492307..16362707 [GRCh37]
Chr16:15399808..16270208 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816356-16648337)x1 copy number loss See cases [RCV000142822] Chr16:14816356..16648337 [GRCh38]
Chr16:14910213..16742194 [GRCh37]
Chr16:14817714..16649695 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816356-16431517)x1 copy number loss See cases [RCV000142851] Chr16:14816356..16431517 [GRCh38]
Chr16:14910213..16525374 [GRCh37]
Chr16:14817714..16432875 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14803931-16414182)x1 copy number loss See cases [RCV000143096] Chr16:14803931..16414182 [GRCh38]
Chr16:14897788..16508039 [GRCh37]
Chr16:14805289..16415540 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x1 copy number loss See cases [RCV000142529] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:15458803..18048552 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16678513)x3 copy number gain See cases [RCV000142565] Chr16:14816348..16678513 [GRCh38]
Chr16:14910205..16772370 [GRCh37]
Chr16:14817706..16679871 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15223052-18148856)x3 copy number gain See cases [RCV000143416] Chr16:15223052..18148856 [GRCh38]
Chr16:15316909..18242713 [GRCh37]
Chr16:15224410..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14783830-16431491)x3 copy number gain See cases [RCV000143320] Chr16:14783830..16431491 [GRCh38]
Chr16:14877687..16525348 [GRCh37]
Chr16:14785188..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18272881)x1 copy number loss See cases [RCV000143204] Chr16:15398450..18272881 [GRCh38]
Chr16:15492307..18366738 [GRCh37]
Chr16:15399808..18274239 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3 copy number gain See cases [RCV000143143] Chr16:14783830..18536926 [GRCh38]
Chr16:14877687..18548248 [GRCh37]
Chr16:14785188..18455749 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15355839-16294739)x1 copy number loss See cases [RCV000143230] Chr16:15355839..16294739 [GRCh38]
Chr16:15449696..16388596 [GRCh37]
Chr16:15357197..16296097 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15222856-18148856)x3 copy number gain See cases [RCV000143165] Chr16:15222856..18148856 [GRCh38]
Chr16:15316713..18242713 [GRCh37]
Chr16:15224214..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1 copy number loss See cases [RCV000148070] Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x1 copy number loss See cases [RCV000148071] Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:14956252..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 copy number gain See cases [RCV000148077] Chr16:15186140..18620659 [GRCh38]
Chr16:15279997..18631981 [GRCh37]
Chr16:15187498..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3 copy number gain See cases [RCV000148067] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3 copy number gain See cases [RCV000148068] Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14794724-16404227)x3 copy number gain See cases [RCV000143608] Chr16:14794724..16404227 [GRCh38]
Chr16:14888581..16498084 [GRCh37]
Chr16:14796082..16405585 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x3 copy number gain See cases [RCV000148200] Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3 copy number gain See cases [RCV000148105] Chr16:14816348..16633564 [GRCh38]
Chr16:14910205..16727421 [GRCh37]
Chr16:14817706..16634922 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 copy number gain See cases [RCV000148208] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 copy number gain See cases [RCV000148146] Chr16:15186140..18658403 [GRCh38]
Chr16:15279997..18669725 [GRCh37]
Chr16:15187498..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3 copy number gain See cases [RCV000148114] Chr16:14816348..16580464 [GRCh38]
Chr16:14910205..16674321 [GRCh37]
Chr16:14817706..16581822 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x1 copy number loss See cases [RCV000148167] Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14874998-16100721)x3 copy number gain See cases [RCV000148180] Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:14876356..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.641C>T (p.Ser214Phe) single nucleotide variant not provided [RCV000153534] Chr16:15691261 [GRCh38]
Chr16:15785118 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000227161]|Connective tissue disorder [RCV000659922]|Familial thoracic aortic aneurysm and aortic dissection [RCV000157332]|MYH11-related condition [RCV003917540]|not provided [RCV001311433]|not specified [RCV000417390] Chr16:15721026 [GRCh38]
Chr16:15814883 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001082621]|Familial thoracic aortic aneurysm and aortic dissection [RCV000157333]|Isolated thoracic aortic aneurysm [RCV001374830]|MYH11-related condition [RCV003927518]|not provided [RCV000588245] Chr16:15720957 [GRCh38]
Chr16:15814814 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.155C>T (p.Thr52Met) single nucleotide variant Lissencephaly 4 [RCV001118860]|NDE1-related microhydranencephaly [RCV000764024]|not provided [RCV002517103]|not specified [RCV000192992] Chr16:15667357 [GRCh38]
Chr16:15761214 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.723G>T (p.Gly241=) single nucleotide variant NDE1-related condition [RCV003955164]|not provided [RCV000922452]|not specified [RCV000194660] Chr16:15694184 [GRCh38]
Chr16:15788041 [GRCh37]
Chr16:16p13.11		 benign|likely benign|uncertain significance
NM_017668.3(NDE1):c.513T>C (p.Asp171=) single nucleotide variant not provided [RCV000179373] Chr16:15687501 [GRCh38]
Chr16:15781358 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.626C>T (p.Thr209Met) single nucleotide variant not provided [RCV000179817] Chr16:15691246 [GRCh38]
Chr16:15785103 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001000699]|Familial thoracic aortic aneurysm and aortic dissection [RCV000241941]|Lissencephaly 4 [RCV001121349]|Lissencephaly, Recessive [RCV000336390]|not provided [RCV001812173]|not specified [RCV000182472] Chr16:15724902 [GRCh38]
Chr16:15818759 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.4068G>A (p.Met1356Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002321719]|not provided [RCV003236786] Chr16:15724695 [GRCh38]
Chr16:15818552 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.2(MYH11):c.4116+8delC deletion Thoracic aortic aneurysm and aortic dissection [RCV000182474]|Thoracic aortic aneurysms and aortic dissections [RCV000182474] Chr16:15724639 [GRCh38]
Chr16:15818496 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.*388del deletion Aortic aneurysm, familial thoracic 4 [RCV000625464]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171277]|Lissencephaly 4 [RCV001195798]|not provided [RCV001701548]|not specified [RCV000251675] Chr16:15724636 [GRCh38]
Chr16:15818493 [GRCh37]
Chr16:16p13.11		 benign|likely benign|uncertain significance
NM_017668.3(NDE1):c.948-4058G>A single nucleotide variant not specified [RCV000182476] Chr16:15720133 [GRCh38]
Chr16:15813990 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.948-5740C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001121131]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771355]|Lissencephaly, Recessive [RCV000353968]|not specified [RCV000182477] Chr16:15718451 [GRCh38]
Chr16:15812308 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000239107]|Familial thoracic aortic aneurysm and aortic dissection [RCV000244427]|Lissencephaly, Recessive [RCV000405397]|not provided [RCV000656918]|not specified [RCV001553753] Chr16:15718335 [GRCh38]
Chr16:15812192 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5313C>T (p.Asn1771=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000553719]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178615]|MYH11-related condition [RCV003907636]|not specified [RCV000182479] Chr16:15717331 [GRCh38]
Chr16:15811188 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001027836]|Aortic aneurysm, familial thoracic 4 [RCV003224199]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185497]|Lissencephaly 4 [RCV001116103]|MYH11-related condition [RCV003398908]|not provided [RCV001704871] Chr16:15715249 [GRCh38]
Chr16:15809106 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.947+11989AG[2] microsatellite Aortic aneurysm, familial thoracic 4 [RCV000545180]|Connective tissue disorder [RCV000680548]|Familial thoracic aortic aneurysm and aortic dissection [RCV000182481]|not provided [RCV003736625] Chr16:15708849..15708852 [GRCh38]
Chr16:15802706..15802709 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000234725]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770686]|not provided [RCV001579871]|not specified [RCV000249091] Chr16:15708830 [GRCh38]
Chr16:15802687 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000462499]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778049]|not provided [RCV000857912] Chr16:15708830 [GRCh38]
Chr16:15802687 [GRCh37]
Chr16:16p13.11		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000771913]|not provided [RCV001726028]|not specified [RCV000182484] Chr16:15704114 [GRCh38]
Chr16:15797971 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000625176]|Aortic aneurysm, familial thoracic 6 [RCV000211551]|Connective tissue disorder [RCV000680547]|Familial thoracic aortic aneurysm and aortic dissection [RCV000253974]|Inborn genetic diseases [RCV002516856]|not provided [RCV001092816] Chr16:15704110 [GRCh38]
Chr16:15797967 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5873C>T (p.Thr1958Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186511]|not specified [RCV000182486] Chr16:15704037 [GRCh38]
Chr16:15797894 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000459113]|Aortic aneurysm, familial thoracic 4 [RCV003224200]|Cardiovascular phenotype [RCV000182512]|Connective tissue disorder [RCV000680555]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769666]|Lissencephaly 4 [RCV001116425]|Lissencephaly, Recessive [RCV000398079]|MYH11-related condition [RCV003927709]|not provided [RCV000757516]|not specified [RCV000417389] Chr16:15724923 [GRCh38]
Chr16:15818780 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000822715]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184502]|not provided [RCV000182513]|not specified [RCV003330542] Chr16:15724919 [GRCh38]
Chr16:15818776 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641635]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171279]|MYH11-related condition [RCV003967450]|not provided [RCV001699146]|not specified [RCV000182514] Chr16:15724790 [GRCh38]
Chr16:15818647 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000699160]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192184]|Lissencephaly 4 [RCV001121346]|Lissencephaly, Recessive [RCV000288562]|not provided [RCV000182515] Chr16:15724747 [GRCh38]
Chr16:15818604 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.2(MYH11):c.4098C>G (p.Ile1366Met) single nucleotide variant Thoracic aortic aneurysm and aortic dissection [RCV000182516]|Thoracic aortic aneurysms and aortic dissections [RCV000182516] Chr16:15724665 [GRCh38]
Chr16:15818522 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001080924]|Connective tissue disorder [RCV000659918]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171276]|Lissencephaly 4 [RCV001116325]|MYH11-related condition [RCV003907637]|not provided [RCV000182517]|not specified [RCV000780512] Chr16:15724286 [GRCh38]
Chr16:15818143 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.980C>T (p.Ser327Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002478616]|Aortic aneurysm, familial thoracic 4 [RCV002517779]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771911]|not provided [RCV000182518] Chr16:15724223 [GRCh38]
Chr16:15818080 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001210362] Chr16:15721599 [GRCh38]
Chr16:15815456 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002492811]|Aortic aneurysm, familial thoracic 4 [RCV002516857]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769664]|not provided [RCV000182520] Chr16:15721597 [GRCh38]
Chr16:15815454 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4538T>A (p.Met1513Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002515315]|not provided [RCV000182521] Chr16:15721462 [GRCh38]
Chr16:15815319 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002478617]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186508]|not provided [RCV000182522] Chr16:15720913 [GRCh38]
Chr16:15814770 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001088950]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778043]|not provided [RCV000182523] Chr16:15720895 [GRCh38]
Chr16:15814752 [GRCh37]
Chr16:16p13.11		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.4826G>A (p.Arg1609Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001852317]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181814]|not provided [RCV000182524] Chr16:15720278 [GRCh38]
Chr16:15814135 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000559002]|Aortic aneurysm, familial thoracic 4 [RCV002503709]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181815]|not provided [RCV000182525] Chr16:15719673 [GRCh38]
Chr16:15813530 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5093C>T (p.Ala1698Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002336453]|not provided [RCV000182526] Chr16:15719298 [GRCh38]
Chr16:15813155 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5269G>A (p.Asp1757Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000230350]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185743]|not provided [RCV000182527] Chr16:15718341 [GRCh38]
Chr16:15812198 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001308821]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186484]|not provided [RCV000182529] Chr16:15717269 [GRCh38]
Chr16:15811126 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001427315]|Connective tissue disorder [RCV000680551]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778044]|MYH11-related condition [RCV003927710]|not provided [RCV000182530] Chr16:15717194 [GRCh38]
Chr16:15811051 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) single nucleotide variant Abnormality of connective tissue [RCV002287385]|Aortic aneurysm, familial thoracic 4 [RCV001085729]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770691]|Inborn genetic diseases [RCV003352798]|not provided [RCV000589962]|not specified [RCV000182531] Chr16:15717145 [GRCh38]
Chr16:15811002 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5573T>G (p.Val1858Gly) single nucleotide variant not provided [RCV000182532] Chr16:15715204 [GRCh38]
Chr16:15809061 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514324]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185744]|not provided [RCV000182533] Chr16:15715196 [GRCh38]
Chr16:15809053 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001085094]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776147]|Isolated thoracic aortic aneurysm [RCV001374829]|Lissencephaly, Recessive [RCV000280640]|not provided [RCV000182534] Chr16:15715192 [GRCh38]
Chr16:15809049 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000814301]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771912]|not provided [RCV000182535] Chr16:15715029 [GRCh38]
Chr16:15808886 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5732C>A (p.Thr1911Lys) single nucleotide variant Inborn genetic diseases [RCV003372642]|not provided [RCV000182536] Chr16:15714963 [GRCh38]
Chr16:15808820 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000796819]|Aortic aneurysm, familial thoracic 4 [RCV002485203]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186485]|not provided [RCV000756379] Chr16:15714928 [GRCh38]
Chr16:15808785 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.909A>G (p.Arg303=) single nucleotide variant not provided [RCV000180560] Chr16:15696822 [GRCh38]
Chr16:15790679 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr) indel Aortic aneurysm, familial thoracic 4 [RCV003765124]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178104]|MYH11-related condition [RCV003398909]|not provided [RCV000254669] Chr16:15724284..15724286 [GRCh38]
Chr16:15818141..15818143 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.4578+2dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000182557]|not provided [RCV000788304] Chr16:15721419..15721420 [GRCh38]
Chr16:15815276..15815277 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_002474.3(MYH11):c.4177G>C (p.Gly1393Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000860965]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182255]|MYH11-related condition [RCV003937651]|not provided [RCV001721137] Chr16:15724349 [GRCh38]
Chr16:15818206 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.4561G>A (p.Asp1521Asn) single nucleotide variant not provided [RCV000182560] Chr16:15721439 [GRCh38]
Chr16:15815296 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641597]|Aortic aneurysm, familial thoracic 4 [RCV002485207]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778047]|not provided [RCV000182561] Chr16:15720874 [GRCh38]
Chr16:15814731 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001087366]|Cardiovascular phenotype [RCV000249743]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180372]|not provided [RCV000182563]|not specified [RCV003323432] Chr16:15717251 [GRCh38]
Chr16:15811108 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000685931]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185747]|not provided [RCV000182564]|not specified [RCV003330543] Chr16:15717222 [GRCh38]
Chr16:15811079 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5755C>T (p.Arg1919Cys) single nucleotide variant not provided [RCV000182565] Chr16:15714940 [GRCh38]
Chr16:15808797 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001069934]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778048]|not provided [RCV000182566] Chr16:15708830 [GRCh38]
Chr16:15802687 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
NM_017668.3(NDE1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000658296] Chr16:15664779 [GRCh38]
Chr16:15758636 [GRCh37]
Chr16:16p13.11		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000185544]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804918]|not provided [RCV003221841] Chr16:15718397 [GRCh38]
Chr16:15812254 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001086574]|Cardiovascular phenotype [RCV000617092]|Familial thoracic aortic aneurysm and aortic dissection [RCV000253552]|Lissencephaly, Recessive [RCV000350678]|MYH11-related condition [RCV003947511]|not provided [RCV000177982]|not specified [RCV001256804] Chr16:15715248 [GRCh38]
Chr16:15809105 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000456952]|Connective tissue disorder [RCV000659928]|Familial thoracic aortic aneurysm and aortic dissection [RCV000252424]|Lissencephaly, Recessive [RCV000390537]|MYH11-related condition [RCV003407656]|not provided [RCV000724061] Chr16:15715261 [GRCh38]
Chr16:15809118 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.11(chr16:15494600-16327230)x1 copy number loss See cases [RCV000240127] Chr16:15494600..16327230 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001143979.1(NDE1):c.238_240del deletion not specified [RCV000193797] Chr16:15677799..15677801 [GRCh38]
Chr16:15771656..15771658 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.117C>T (p.Phe39=) single nucleotide variant not specified [RCV000194776] Chr16:15667319 [GRCh38]
Chr16:15761176 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5756G>A (p.Arg1919His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001875997]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180707] Chr16:15714939 [GRCh38]
Chr16:15808796 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4154G>T (p.Ser1385Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180762] Chr16:15724372 [GRCh38]
Chr16:15818229 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-7058C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000542421]|not provided [RCV003736807] Chr16:15717133 [GRCh38]
Chr16:15810990 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15507184-16315198)x3 copy number gain See cases [RCV000240168] Chr16:15507184..16315198 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15730753-16276115)x3 copy number gain See cases [RCV000240086] Chr16:15730753..16276115 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001000639]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186468]|not provided [RCV001579985]|not specified [RCV000244795] Chr16:15724329 [GRCh38]
Chr16:15818186 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.4438G>C (p.Glu1480Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000205760] Chr16:15721562 [GRCh38]
Chr16:15815419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
NM_017668.3(NDE1):c.948-3357C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000232546]|Aortic aneurysm, familial thoracic 4 [RCV002503856]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191114]|not provided [RCV003387516]|not specified [RCV000221806] Chr16:15720834 [GRCh38]
Chr16:15814691 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001219857]|Aortic aneurysm, familial thoracic 4 [RCV002485955]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177358]|not provided [RCV000756381] Chr16:15717203 [GRCh38]
Chr16:15811060 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-5748G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641601]|Familial thoracic aortic aneurysm and aortic dissection [RCV000301425]|MYH11-related condition [RCV003907794]|not specified [RCV000222686] Chr16:15718443 [GRCh38]
Chr16:15812300 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.-43-3548_83+622del deletion NDE1-related microhydranencephaly [RCV000210214] Chr16:15661188..15665483 [GRCh38]
Chr16:15755045..15759340 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5371G>A (p.Glu1791Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000230804]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184025]|not provided [RCV001753691] Chr16:15717273 [GRCh38]
Chr16:15811130 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5821C>A (p.Gln1941Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000232249]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187623]|not provided [RCV000520736] Chr16:15708828 [GRCh38]
Chr16:15802685 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.386+9G>A single nucleotide variant Lissencephaly 4 [RCV000346527]|not provided [RCV000726106]|not specified [RCV000300102] Chr16:15677958 [GRCh38]
Chr16:15771815 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.4206G>A (p.Glu1402=) single nucleotide variant not provided [RCV000756383] Chr16:15724320 [GRCh38]
Chr16:15818177 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5275G>T (p.Val1759Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313407] Chr16:15718335 [GRCh38]
Chr16:15812192 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5733G>A (p.Thr1911=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001454115]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186055] Chr16:15714962 [GRCh38]
Chr16:15808819 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15489920-18141051)x3 copy number gain See cases [RCV000240098] Chr16:15489920..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15501629-16327230)x3 copy number gain See cases [RCV000239865] Chr16:15501629..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15494600-16327230)x3 copy number gain See cases [RCV000239980] Chr16:15494600..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15730753-16276115)x1 copy number loss See cases [RCV000239982] Chr16:15730753..16276115 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1 copy number loss See cases [RCV000239901] Chr16:15494600..18141051 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14906734-16516109)x1 copy number loss See cases [RCV000511321] Chr16:14906734..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000476295]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777820]|not provided [RCV001711759]|not specified [RCV000401865] Chr16:15724287 [GRCh38]
Chr16:15818144 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5595C>T (p.Ala1865=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001460334]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777863]|MYH11-related condition [RCV003920018]|not specified [RCV000421100] Chr16:15715182 [GRCh38]
Chr16:15809039 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000541486]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769661]|not provided [RCV001812761]|not specified [RCV000601705] Chr16:15720856 [GRCh38]
Chr16:15814713 [GRCh37]
Chr16:16p13.11		 benign|likely benign
GRCh37/hg19 16p13.11(chr16:15494600-16292235)x1 copy number loss See cases [RCV000240260] Chr16:15494600..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001086354]|Familial thoracic aortic aneurysm and aortic dissection [RCV000243879]|not provided [RCV000533441] Chr16:15724941 [GRCh38]
Chr16:15818798 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001060702]|Aortic aneurysm, familial thoracic 4 [RCV002487148]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178592]|not provided [RCV002464155]|not specified [RCV001201316] Chr16:15721457 [GRCh38]
Chr16:15815314 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-9293G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001119047]|Familial thoracic aortic aneurysm and aortic dissection [RCV000367827]|Lissencephaly, Recessive [RCV000396051]|not provided [RCV001668454]|not specified [RCV000244318] Chr16:15714898 [GRCh38]
Chr16:15808755 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.4083C>T (p.Asn1361=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001393023]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176605]|not specified [RCV000246734] Chr16:15724680 [GRCh38]
Chr16:15818537 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4884C>T (p.Asp1628=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000533300]|Cardiovascular phenotype [RCV000249185]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178607]|not specified [RCV000609422] Chr16:15720220 [GRCh38]
Chr16:15814077 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4372G>A (p.Ala1458Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001220318]|Cardiovascular phenotype [RCV000244482]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528163] Chr16:15721628 [GRCh38]
Chr16:15815485 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5652G>A (p.Arg1884=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000546663]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191105]|MYH11-related condition [RCV003897588]|not specified [RCV002229717] Chr16:15715043 [GRCh38]
Chr16:15808900 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4433C>G (p.Ala1478Gly) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002295294]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311179] Chr16:15721567 [GRCh38]
Chr16:15815424 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4000G>C (p.Val1334Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001298710]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310944] Chr16:15724763 [GRCh38]
Chr16:15818620 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000468598]|Familial thoracic aortic aneurysm and aortic dissection [RCV000249445]|Lissencephaly, Recessive [RCV000403795]|not provided [RCV002260632]|not specified [RCV001844102] Chr16:15720949 [GRCh38]
Chr16:15814806 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.948-3368C>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002057429]|not specified [RCV000242335] Chr16:15720823 [GRCh38]
Chr16:15814680 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000554279]|Aortic aneurysm, familial thoracic 4 [RCV003224241]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175634]|Lissencephaly 4 [RCV001116426]|not provided [RCV000513032]|not specified [RCV000247203] Chr16:15724954 [GRCh38]
Chr16:15818811 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5360G>A (p.Arg1787Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184259] Chr16:15717284 [GRCh38]
Chr16:15811141 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15802662)_(15932115_?)dup duplication Aortic aneurysm, familial thoracic 4 [RCV000258058] Chr16:15708805..15838258 [GRCh38]
Chr16:15802662..15932115 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4920G>A (p.Arg1640=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001429952]|Cardiovascular phenotype [RCV000249759]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777866]|not provided [RCV001546206] Chr16:15720184 [GRCh38]
Chr16:15814041 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.947+11946G>C single nucleotide variant not specified [RCV000249844] Chr16:15708806 [GRCh38]
Chr16:15802663 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.948-4980G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001453691]|not specified [RCV000249853] Chr16:15719211 [GRCh38]
Chr16:15813068 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15489920-16327230)x3 copy number gain See cases [RCV000240480] Chr16:15489920..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14910205-16327230)x3 copy number gain See cases [RCV000240601] Chr16:14910205..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000553332]|Cardiovascular phenotype [RCV000247569]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777865]|not provided [RCV001753734] Chr16:15715181 [GRCh38]
Chr16:15809038 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5364G>A (p.Gln1788=) single nucleotide variant not provided [RCV000487562] Chr16:15717280 [GRCh38]
Chr16:15811137 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5742C>T (p.Asn1914=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001501687]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178167]|not provided [RCV000552427] Chr16:15714953 [GRCh38]
Chr16:15808810 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15507184-16306653)x3 copy number gain See cases [RCV000240297] Chr16:15507184..16306653 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4815G>A (p.Leu1605=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000529670]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177338] Chr16:15720289 [GRCh38]
Chr16:15814146 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000861530]|Connective tissue disorder [RCV000659927]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770692]|not provided [RCV001696829]|not specified [RCV003235265] Chr16:15717174 [GRCh38]
Chr16:15811031 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3 copy number gain See cases [RCV000240491] Chr16:15507184..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
NM_002474.3(MYH11):c.4135A>C (p.Lys1379Gln) single nucleotide variant Cardiovascular phenotype [RCV000243370]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528162] Chr16:15724391 [GRCh38]
Chr16:15818248 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5511A>G (p.Lys1837=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000861429]|Cardiovascular phenotype [RCV000248390] Chr16:15715266 [GRCh38]
Chr16:15809123 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.*1389G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000371460]|Lissencephaly 4 [RCV001121426]|Lissencephaly, Recessive [RCV000281753] Chr16:15725640 [GRCh38]
Chr16:15819497 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.*1220G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000265333]|Lissencephaly 4 [RCV001119438]|Lissencephaly, Recessive [RCV000320384] Chr16:15725471 [GRCh38]
Chr16:15819328 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.*897_*898insC insertion Familial thoracic aortic aneurysm and aortic dissection [RCV000377565]|Lissencephaly, Recessive [RCV000283023] Chr16:15725148..15725149 [GRCh38]
Chr16:15819005..15819006 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000550987]|Familial thoracic aortic aneurysm and aortic dissection [RCV000301549]|Lissencephaly, Recessive [RCV000340220]|not provided [RCV001697743] Chr16:15718363 [GRCh38]
Chr16:15812220 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.720C>T (p.Thr240=) single nucleotide variant Lissencephaly 4 [RCV000301817]|not provided [RCV002056481] Chr16:15694181 [GRCh38]
Chr16:15788038 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.*1299A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000361189]|Lissencephaly 4 [RCV001121422]|Lissencephaly, Recessive [RCV000266563] Chr16:15725550 [GRCh38]
Chr16:15819407 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.*367T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000361011]|Lissencephaly 4 [RCV001119327]|Lissencephaly, Recessive [RCV000266356]|not provided [RCV001590945] Chr16:15724618 [GRCh38]
Chr16:15818475 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.700C>T (p.Arg234Cys) single nucleotide variant Lissencephaly 4 [RCV000267135]|not specified [RCV000424240] Chr16:15691320 [GRCh38]
Chr16:15785177 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000705273]|Familial thoracic aortic aneurysm and aortic dissection [RCV000284825]|Lissencephaly, Recessive [RCV000337481]|not provided [RCV001795938]|not specified [RCV000507867] Chr16:15720840 [GRCh38]
Chr16:15814697 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-164C>T single nucleotide variant Lissencephaly 4 [RCV000284601]|not specified [RCV000437192] Chr16:15649349 [GRCh38]
Chr16:15743206 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000867923]|Familial thoracic aortic aneurysm and aortic dissection [RCV000285845]|MYH11-related condition [RCV003969895]|not provided [RCV001697664] Chr16:15720295 [GRCh38]
Chr16:15814152 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001143979.2(NDE1):c.-675G>A single nucleotide variant Lissencephaly 4 [RCV000287083] Chr16:15643418 [GRCh38]
Chr16:15737275 [GRCh37]
Chr16:16p13.11		 benign|uncertain significance
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001458306]|Familial thoracic aortic aneurysm and aortic dissection [RCV000269365]|Lissencephaly, Recessive [RCV000326740]|not provided [RCV003422266] Chr16:15714923 [GRCh38]
Chr16:15808780 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.947+6903A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001117448]|Familial thoracic aortic aneurysm and aortic dissection [RCV000288704]|Lissencephaly, Recessive [RCV000322695] Chr16:15703763 [GRCh38]
Chr16:15797620 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6711G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001115993]|Familial thoracic aortic aneurysm and aortic dissection [RCV000367652]|Lissencephaly 4 [RCV000271239] Chr16:15703571 [GRCh38]
Chr16:15797428 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.12C>T (p.Ser4=) single nucleotide variant Lissencephaly 4 [RCV000271161]|not provided [RCV000925995] Chr16:15664790 [GRCh38]
Chr16:15758647 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001081910]|Familial thoracic aortic aneurysm and aortic dissection [RCV000380933]|Lissencephaly, Recessive [RCV000288748]|not provided [RCV000762207]|not specified [RCV002271489] Chr16:15718333 [GRCh38]
Chr16:15812190 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.*1723C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000407935]|Lissencephaly 4 [RCV001117985]|Lissencephaly, Recessive [RCV000289669] Chr16:15725974 [GRCh38]
Chr16:15819831 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000867986]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188868]|Lissencephaly, Recessive [RCV000272812]|MYH11-related condition [RCV003920342]|not provided [RCV001697754] Chr16:15720205 [GRCh38]
Chr16:15814062 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000543268]|Familial thoracic aortic aneurysm and aortic dissection [RCV000371369]|Lissencephaly, Recessive [RCV000274493]|not provided [RCV001311432]|not specified [RCV003323513] Chr16:15719297 [GRCh38]
Chr16:15813154 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641576]|Familial thoracic aortic aneurysm and aortic dissection [RCV000357063]|Lissencephaly, Recessive [RCV000259812]|MYH11-related condition [RCV003910208]|not provided [RCV002269268]|not specified [RCV003323510] Chr16:15717238 [GRCh38]
Chr16:15811095 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.921C>A (p.Ser307Arg) single nucleotide variant Inborn genetic diseases [RCV002520985]|Lissencephaly 4 [RCV000276977]|not provided [RCV000483944] Chr16:15696834 [GRCh38]
Chr16:15790691 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*202G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001000191]|Lissencephaly 4 [RCV001117769]|Lissencephaly, Recessive [RCV000352419]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775766]|Visceral myopathy 2 [RCV001775767]|not provided [RCV000831614] Chr16:15724453 [GRCh38]
Chr16:15818310 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5330G>A (p.Arg1777His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000699065]|Aortic aneurysm, familial thoracic 4 [RCV002487401]|Lissencephaly, Recessive [RCV000277615] Chr16:15717314 [GRCh38]
Chr16:15811171 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.823C>T (p.Arg275Trp) single nucleotide variant Lissencephaly 4 [RCV000261756]|not provided [RCV000712373] Chr16:15696736 [GRCh38]
Chr16:15790593 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*899C>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000378871]|Lissencephaly 4 [RCV001117878]|Lissencephaly, Recessive [RCV000279655]|not provided [RCV001530918] Chr16:15725150 [GRCh38]
Chr16:15819007 [GRCh37]
Chr16:16p13.11		 benign|likely benign|uncertain significance
NM_017668.3(NDE1):c.*2090T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000262544]|Lissencephaly 4 [RCV001119522]|Lissencephaly, Recessive [RCV000329809] Chr16:15726341 [GRCh38]
Chr16:15820198 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000891700]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179327]|Lissencephaly, Recessive [RCV000303212] Chr16:15717223 [GRCh38]
Chr16:15811080 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.95C>T (p.Thr32Met) single nucleotide variant Inborn genetic diseases [RCV002522822]|Lissencephaly 4 [RCV000320217] Chr16:15667297 [GRCh38]
Chr16:15761154 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.*897A>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000342741]|Lissencephaly 4 [RCV001116429] Chr16:15725148 [GRCh38]
Chr16:15819005 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6469C>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001120914]|Familial thoracic aortic aneurysm and aortic dissection [RCV000343869]|Lissencephaly, Recessive [RCV000404577] Chr16:15703329 [GRCh38]
Chr16:15797186 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1784A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000344597]|Lissencephaly 4 [RCV001117986]|Lissencephaly, Recessive [RCV000403168] Chr16:15726035 [GRCh38]
Chr16:15819892 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.948-3135C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641587]|Familial thoracic aortic aneurysm and aortic dissection [RCV000367942]|Lissencephaly, Recessive [RCV000396166]|not provided [RCV001548504] Chr16:15721056 [GRCh38]
Chr16:15814913 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001040114.1(MYH11):c.3880-158_3880-157dupGT duplication Thoracic aortic aneurysm and aortic dissection [RCV000272342] Chr16:15725149..15725150 [GRCh38]
Chr16:15819006..15819007 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.387-5G>A single nucleotide variant not provided [RCV000270929] Chr16:15687370 [GRCh38]
Chr16:15781227 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-695C>T single nucleotide variant Lissencephaly 4 [RCV000345586] Chr16:15643398 [GRCh38]
Chr16:15737255 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-340T>A single nucleotide variant Lissencephaly 4 [RCV000368488] Chr16:15643753 [GRCh38]
Chr16:15737610 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.436A>T (p.Ile146Phe) single nucleotide variant Lissencephaly 4 [RCV000394558] Chr16:15687424 [GRCh38]
Chr16:15781281 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.486C>T (p.Leu162=) single nucleotide variant Lissencephaly 4 [RCV001115883]|not provided [RCV000881819]|not specified [RCV000377707] Chr16:15687474 [GRCh38]
Chr16:15781331 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.4808C>T (p.Thr1603Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000324536]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177407] Chr16:15720296 [GRCh38]
Chr16:15814153 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-6833A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641609]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179331]|Lissencephaly, Recessive [RCV000347334]|not provided [RCV001560580]|not specified [RCV003323511] Chr16:15717358 [GRCh38]
Chr16:15811215 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5823G>A (p.Arg1941=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001119045]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180284]|Lissencephaly, Recessive [RCV000396060]|not provided [RCV001815382] Chr16:15704087 [GRCh38]
Chr16:15797944 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.*1981A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000360863]|Lissencephaly, Recessive [RCV000261345] Chr16:15726232 [GRCh38]
Chr16:15820089 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001117663]|Familial thoracic aortic aneurysm and aortic dissection [RCV000325499]|Lissencephaly, Recessive [RCV000382534] Chr16:15720283 [GRCh38]
Chr16:15814140 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.*898del deletion Lissencephaly, Recessive [RCV000326097]|not provided [RCV001683279] Chr16:15725135 [GRCh38]
Chr16:15818992 [GRCh37]
Chr16:16p13.11		 benign|uncertain significance
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001121130]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769658]|Lissencephaly, Recessive [RCV000397601]|MYH11-related condition [RCV003940243]|not provided [RCV000460280]|not specified [RCV003323512] Chr16:15718384 [GRCh38]
Chr16:15812241 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001143979.2(NDE1):c.-545A>G single nucleotide variant Lissencephaly 4 [RCV000397438] Chr16:15643548 [GRCh38]
Chr16:15737405 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.965G>A (p.Arg322His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002328755]|not provided [RCV000311485] Chr16:15724208 [GRCh38]
Chr16:15818065 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.302C>T (p.Ala101Val) single nucleotide variant Lissencephaly 4 [RCV001115882]|NDE1-related microhydranencephaly [RCV000764025]|not provided [RCV000725994]|not specified [RCV000346663] Chr16:15677865 [GRCh38]
Chr16:15771722 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*193G>A single nucleotide variant Lissencephaly 4 [RCV000373160] Chr16:15724444 [GRCh38]
Chr16:15818301 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.990G>A (p.Arg330=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001088915]|Familial thoracic aortic aneurysm and aortic dissection [RCV000374161]|not provided [RCV000512736]|not specified [RCV003401333] Chr16:15724233 [GRCh38]
Chr16:15818090 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001143979.2(NDE1):c.-261_-258del deletion Lissencephaly, Recessive [RCV000273907] Chr16:15643830..15643833 [GRCh38]
Chr16:15737687..15737690 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-232A>G single nucleotide variant Lissencephaly 4 [RCV000328924] Chr16:15643861 [GRCh38]
Chr16:15737718 [GRCh37]
Chr16:16p13.11		 benign|uncertain significance
NM_017668.3(NDE1):c.948-3365C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001850683]|Aortic aneurysm, familial thoracic 4 [RCV002502237]|Familial thoracic aortic aneurysm and aortic dissection [RCV000376814]|not specified [RCV001532923] Chr16:15720826 [GRCh38]
Chr16:15814683 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.215G>A (p.Arg72His) single nucleotide variant not provided [RCV000390162] Chr16:15667417 [GRCh38]
Chr16:15761274 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1790T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000309696]|Lissencephaly 4 [RCV001117988] Chr16:15726041 [GRCh38]
Chr16:15819898 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*286G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000309971]|Lissencephaly 4 [RCV001117772]|Lissencephaly, Recessive [RCV000364700]|not provided [RCV003221913] Chr16:15724537 [GRCh38]
Chr16:15818394 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.309C>G (p.Thr103=) single nucleotide variant Lissencephaly 4 [RCV000310341]|NDE1-related condition [RCV003910207]|not provided [RCV000907275] Chr16:15677872 [GRCh38]
Chr16:15771729 [GRCh37]
Chr16:16p13.11		 benign|likely benign|uncertain significance
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003765846]|Familial thoracic aortic aneurysm and aortic dissection [RCV000331709]|Lissencephaly, Recessive [RCV000386203]|not provided [RCV002263008] Chr16:15724689 [GRCh38]
Chr16:15818546 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.948-9103C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000625462]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189397]|Lissencephaly, Recessive [RCV000378075]|not provided [RCV001706501] Chr16:15715088 [GRCh38]
Chr16:15808945 [GRCh37]
Chr16:16p13.11		 benign|likely benign|uncertain significance
NM_017668.3(NDE1):c.*898dup duplication Lissencephaly, Recessive [RCV000275696]|not provided [RCV001613020] Chr16:15725134..15725135 [GRCh38]
Chr16:15818991..15818992 [GRCh37]
Chr16:16p13.11		 benign|uncertain significance
NM_002474.3(MYH11):c.4663C>G (p.Leu1555Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001094374]|Familial thoracic aortic aneurysm and aortic dissection [RCV000310958]|not provided [RCV000852382] Chr16:15720967 [GRCh38]
Chr16:15814824 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*863C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000311195]|Lissencephaly 4 [RCV001116428]|Lissencephaly, Recessive [RCV000370477] Chr16:15725114 [GRCh38]
Chr16:15818971 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001143979.2(NDE1):c.-353A>G single nucleotide variant Lissencephaly 4 [RCV000332431] Chr16:15643740 [GRCh38]
Chr16:15737597 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.947+6587C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001115990]|Familial thoracic aortic aneurysm and aortic dissection [RCV000355802]|Lissencephaly 4 [RCV000397557] Chr16:15703447 [GRCh38]
Chr16:15797304 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.*896A>C single nucleotide variant Lissencephaly 4 [RCV000380757] Chr16:15725147 [GRCh38]
Chr16:15819004 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-687C>T single nucleotide variant Lissencephaly 4 [RCV000404629] Chr16:15643406 [GRCh38]
Chr16:15737263 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.*238C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000405258]|Lissencephaly 4 [RCV001117770] Chr16:15724489 [GRCh38]
Chr16:15818346 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.745G>T (p.Ala249Ser) single nucleotide variant Lissencephaly 4 [RCV000356686] Chr16:15694206 [GRCh38]
Chr16:15788063 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-535C>A single nucleotide variant Lissencephaly 4 [RCV000356792] Chr16:15643558 [GRCh38]
Chr16:15737415 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.838G>A (p.Asp280Asn) single nucleotide variant not provided [RCV000324945] Chr16:15696751 [GRCh38]
Chr16:15790608 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-398A>C single nucleotide variant Lissencephaly 4 [RCV000276904] Chr16:15643695 [GRCh38]
Chr16:15737552 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*913A>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000404818]|Lissencephaly 4 [RCV001117880]|Lissencephaly, Recessive [RCV000312653]|not provided [RCV001683280] Chr16:15725164 [GRCh38]
Chr16:15819021 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.*943C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000405724]|Lissencephaly 4 [RCV001117882]|Lissencephaly, Recessive [RCV000313679] Chr16:15725194 [GRCh38]
Chr16:15819051 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.*1808T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000359241]|Lissencephaly 4 [RCV001117989]|Lissencephaly, Recessive [RCV000394863] Chr16:15726059 [GRCh38]
Chr16:15819916 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001119329]|Familial thoracic aortic aneurysm and aortic dissection [RCV000277819]|Lissencephaly 4 [RCV000333031] Chr16:15724732 [GRCh38]
Chr16:15818589 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5886C>T (p.Asp1962=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000336573]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177076] Chr16:15704024 [GRCh38]
Chr16:15797881 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001143979.1(NDE1):c.-773G>A single nucleotide variant Lissencephaly 4 [RCV000384742] Chr16:15643320 [GRCh38]
Chr16:15737177 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.947+7094G>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000337665]|not provided [RCV001568494] Chr16:15703954 [GRCh38]
Chr16:15797811 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.832G>C (p.Val278Leu) single nucleotide variant Inborn genetic diseases [RCV002522823]|Lissencephaly 4 [RCV000316922]|not provided [RCV001764286] Chr16:15696745 [GRCh38]
Chr16:15790602 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1571A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000318097]|Lissencephaly 4 [RCV001116533]|Lissencephaly, Recessive [RCV000387409] Chr16:15725822 [GRCh38]
Chr16:15819679 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*593A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000339582]|Lissencephaly 4 [RCV001121348]|Lissencephaly, Recessive [RCV000404140] Chr16:15724844 [GRCh38]
Chr16:15818701 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-152C>T single nucleotide variant Lissencephaly 4 [RCV000339587]|not provided [RCV001718662] Chr16:15649361 [GRCh38]
Chr16:15743218 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.947+6531C>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001120919]|Lissencephaly, Recessive [RCV000340527] Chr16:15703391 [GRCh38]
Chr16:15797248 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5761G>A (p.Val1921Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001119049]|Familial thoracic aortic aneurysm and aortic dissection [RCV000360574]|Lissencephaly, Recessive [RCV000268264] Chr16:15714934 [GRCh38]
Chr16:15808791 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-564C>T single nucleotide variant Lissencephaly 4 [RCV000341606] Chr16:15643529 [GRCh38]
Chr16:15737386 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.*947G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000363672]|Lissencephaly 4 [RCV001119432]|Lissencephaly, Recessive [RCV000396157]|not provided [RCV000834766] Chr16:15725198 [GRCh38]
Chr16:15819055 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5062G>C (p.Asp1688His) single nucleotide variant not provided [RCV000585475] Chr16:15719605 [GRCh38]
Chr16:15813462 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4459_4464del (p.Ser1487_Leu1488del) deletion Aortic aneurysm, familial thoracic 4 [RCV001853645]|not provided [RCV000523648] Chr16:15721536..15721541 [GRCh38]
Chr16:15815393..15815398 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.83+42dup duplication not provided [RCV001548508] Chr16:15664887..15664888 [GRCh38]
Chr16:15758744..15758745 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5411T>C (p.Met1804Thr) single nucleotide variant not provided [RCV000489932] Chr16:15717233 [GRCh38]
Chr16:15811090 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.1(NDE1):c.-812C>T single nucleotide variant Lissencephaly 4 [RCV000330217] Chr16:15643281 [GRCh38]
Chr16:15737138 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.2(MYH11):c.4116+111dupC duplication Thoracic aortic aneurysm and aortic dissection [RCV000345102] Chr16:15724536 [GRCh38]
Chr16:15818393 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.690G>A (p.Gly230=) single nucleotide variant Lissencephaly 4 [RCV000361796] Chr16:15691310 [GRCh38]
Chr16:15785167 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-165-12_-165-9del deletion Lissencephaly, Recessive [RCV000379911]|not provided [RCV001718661] Chr16:15649333..15649336 [GRCh38]
Chr16:15743190..15743193 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.3895G>A (p.Ala1299Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002527607]|not provided [RCV000520475] Chr16:15724956 [GRCh38]
Chr16:15818813 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6327G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001118948]|Familial thoracic aortic aneurysm and aortic dissection [RCV000386491]|Lissencephaly, Recessive [RCV000292610] Chr16:15703187 [GRCh38]
Chr16:15797044 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*2030T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000316616]|Lissencephaly 4 [RCV001119521]|Lissencephaly, Recessive [RCV000357237] Chr16:15726281 [GRCh38]
Chr16:15820138 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4938G>A (p.Gln1646=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001116221]|Familial thoracic aortic aneurysm and aortic dissection [RCV000331787]|Lissencephaly, Recessive [RCV000365465] Chr16:15720166 [GRCh38]
Chr16:15814023 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6270C>T single nucleotide variant Lissencephaly, Recessive [RCV000331940] Chr16:15703130 [GRCh38]
Chr16:15796987 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4661_4681dup (p.Glu1554_Asp1560dup) duplication Aortic aneurysm, familial thoracic 4 [RCV000550126] Chr16:15720948..15720949 [GRCh38]
Chr16:15814805..15814806 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1663C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000293125]|Lissencephaly 4 [RCV001116535]|Lissencephaly, Recessive [RCV000352581] Chr16:15725914 [GRCh38]
Chr16:15819771 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1388C>T single nucleotide variant Lissencephaly 4 [RCV000316772] Chr16:15725639 [GRCh38]
Chr16:15819496 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6367C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001120913]|Familial thoracic aortic aneurysm and aortic dissection [RCV000347509]|Lissencephaly, Recessive [RCV000383547] Chr16:15703227 [GRCh38]
Chr16:15797084 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-186G>T single nucleotide variant Lissencephaly 4 [RCV000383310] Chr16:15643907 [GRCh38]
Chr16:15737764 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*290dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000345102]|Lissencephaly, Recessive [RCV000402744] Chr16:15724535..15724536 [GRCh38]
Chr16:15818392..15818393 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*914A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000348852]|Lissencephaly 4 [RCV001117881] Chr16:15725165 [GRCh38]
Chr16:15819022 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.-35C>T single nucleotide variant Lissencephaly 4 [RCV000366514] Chr16:15664744 [GRCh38]
Chr16:15758601 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-132C>T single nucleotide variant Lissencephaly 4 [RCV000403173] Chr16:15649381 [GRCh38]
Chr16:15743238 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*259G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000294854]|Lissencephaly 4 [RCV001117771] Chr16:15724510 [GRCh38]
Chr16:15818367 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1958TTCCC[3] microsatellite Lissencephaly, Recessive [RCV000306150] Chr16:15726209..15726213 [GRCh38]
Chr16:15820066..15820070 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*919dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000334823] Chr16:15725162..15725163 [GRCh38]
Chr16:15819019..15819020 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*559G>T single nucleotide variant Lissencephaly 4 [RCV000284528] Chr16:15724810 [GRCh38]
Chr16:15818667 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.632C>T (p.Ser211Phe) single nucleotide variant Lissencephaly 4 [RCV000306992] Chr16:15691252 [GRCh38]
Chr16:15785109 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6490G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000285589] Chr16:15703350 [GRCh38]
Chr16:15797207 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.35A>G (p.Glu12Gly) single nucleotide variant Lissencephaly 4 [RCV000307554] Chr16:15664813 [GRCh38]
Chr16:15758670 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6612A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001115991]|Familial thoracic aortic aneurysm and aortic dissection [RCV000297612]|Lissencephaly, Recessive [RCV000370972] Chr16:15703472 [GRCh38]
Chr16:15797329 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5774A>G (p.Lys1925Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001119048]|Familial thoracic aortic aneurysm and aortic dissection [RCV000309241]|Lissencephaly, Recessive [RCV000366285] Chr16:15714921 [GRCh38]
Chr16:15808778 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4420G>A (p.Ala1474Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001121240]|Familial thoracic aortic aneurysm and aortic dissection [RCV000322936]|Lissencephaly, Recessive [RCV000361234] Chr16:15721580 [GRCh38]
Chr16:15815437 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-479C>T single nucleotide variant Lissencephaly 4 [RCV000352927] Chr16:15643614 [GRCh38]
Chr16:15737471 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-512T>G single nucleotide variant Lissencephaly 4 [RCV000298079] Chr16:15643581 [GRCh38]
Chr16:15737438 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1155A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000310054]|Lissencephaly 4 [RCV001119435]|Lissencephaly, Recessive [RCV000364767] Chr16:15725406 [GRCh38]
Chr16:15819263 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5122C>G (p.Leu1708Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181384] Chr16:15719269 [GRCh38]
Chr16:15813126 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6655_947+6656del microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV000276499]|Lissencephaly, Recessive [RCV000331611] Chr16:15703512..15703513 [GRCh38]
Chr16:15797369..15797370 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.(?_15703971)_(15838272_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV000531255] Chr16:15703971..15838272 [GRCh38]
Chr16:15797828..15932129 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_002474.3(MYH11):c.5874G>A (p.Thr1958=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187548]|not provided [RCV003326476] Chr16:15704036 [GRCh38]
Chr16:15797893 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.947+7069_947+7073del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000379522]|Lissencephaly, Recessive [RCV000282801]|not provided [RCV001590944] Chr16:15703926..15703930 [GRCh38]
Chr16:15797783..15797787 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.947+6421_947+6422del deletion Lissencephaly, Recessive [RCV000289161] Chr16:15703280..15703281 [GRCh38]
Chr16:15797137..15797138 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000755575]|Cardiovascular phenotype [RCV000617806]|Familial thoracic aortic aneurysm and aortic dissection [RCV000253396]|Lissencephaly, Recessive [RCV000359456]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775607]|Visceral myopathy 2 [RCV001775608]|not provided [RCV001812080]|not specified [RCV000126941] Chr16:15727006 [GRCh38]
Chr16:15820863 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.4007C>T (p.Thr1336Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313398] Chr16:15724756 [GRCh38]
Chr16:15818613 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-6837G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001119142]|Lissencephaly, Recessive [RCV000290095] Chr16:15717354 [GRCh38]
Chr16:15811211 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6554T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001120920]|Familial thoracic aortic aneurysm and aortic dissection [RCV000397539]|Lissencephaly, Recessive [RCV000301091] Chr16:15703414 [GRCh38]
Chr16:15797271 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*899CA[8] microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV000272342]|Lissencephaly, Recessive [RCV000327659] Chr16:15725148..15725149 [GRCh38]
Chr16:15819005..15819006 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.1(NDE1):c.-741dup duplication Lissencephaly, Recessive [RCV000290580] Chr16:15643346..15643347 [GRCh38]
Chr16:15737203..15737204 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*344C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000394725]|Lissencephaly 4 [RCV001119326]|Lissencephaly, Recessive [RCV000301766] Chr16:15724595 [GRCh38]
Chr16:15818452 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-535del deletion Lissencephaly, Recessive [RCV000301923] Chr16:15643556 [GRCh38]
Chr16:15737413 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.947+6742G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001115994]|Familial thoracic aortic aneurysm and aortic dissection [RCV000328589]|Lissencephaly, Recessive [RCV000380826] Chr16:15703602 [GRCh38]
Chr16:15797459 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5427G>C (p.Lys1809Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001117539]|Lissencephaly, Recessive [RCV000361465] Chr16:15717217 [GRCh38]
Chr16:15811074 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-512dup duplication Lissencephaly, Recessive [RCV000398384] Chr16:15643570..15643571 [GRCh38]
Chr16:15737427..15737428 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3933G>A (p.Ala1311=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002063049]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189428]|not provided [RCV001697366] Chr16:15724918 [GRCh38]
Chr16:15818775 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14968859-16291983)x3 copy number gain See cases [RCV000598738] Chr16:14968859..16291983 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_017668.3(NDE1):c.948-2774C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514382]|not specified [RCV000598736] Chr16:15721417 [GRCh38]
Chr16:15815274 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4078C>G (p.Gln1360Glu) single nucleotide variant not provided [RCV000523136] Chr16:15724685 [GRCh38]
Chr16:15818542 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15499057-18264837)x4 copy number gain See cases [RCV000598971] Chr16:15499057..18264837 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_001040113.2(MYH11):c.5813C>A (p.Pro1938His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000772502]|not provided [RCV000599264] Chr16:15708836 [GRCh38]
Chr16:15802693 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4015C>T (p.Arg1339Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000532371] Chr16:15724748 [GRCh38]
Chr16:15818605 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5284G>A (p.Ala1762Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000529067] Chr16:15718326 [GRCh38]
Chr16:15812183 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5788C>T (p.Arg1930Ter) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002498875]|not specified [RCV000599500] Chr16:15704122 [GRCh38]
Chr16:15797979 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4242T>A (p.Ala1414=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189427]|not specified [RCV000605253] Chr16:15724284 [GRCh38]
Chr16:15818141 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4015C>A (p.Arg1339Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000772660] Chr16:15724748 [GRCh38]
Chr16:15818605 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000916671]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772670]|not provided [RCV002227187]|not specified [RCV000600218] Chr16:15724323 [GRCh38]
Chr16:15818180 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.948-9102G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000625177]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188905]|not provided [RCV000586733] Chr16:15715089 [GRCh38]
Chr16:15808946 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001248212]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179343]|not provided [RCV001764732]|not specified [RCV001193455] Chr16:15724694 [GRCh38]
Chr16:15818551 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5225A>G (p.Glu1742Gly) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641592]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176625] Chr16:15718385 [GRCh38]
Chr16:15812242 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3999C>T (p.Asn1333=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001426024] Chr16:15724764 [GRCh38]
Chr16:15818621 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3969G>A (p.Leu1323=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629133]|Familial thoracic aortic aneurysm and aortic dissection [RCV003165980]|not provided [RCV000731961] Chr16:15724794 [GRCh38]
Chr16:15818651 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5838_5839del (p.Arg1946fs) microsatellite not provided [RCV000733061] Chr16:15704071..15704072 [GRCh38]
Chr16:15797928..15797929 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000415645]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170802]|not provided [RCV000836072] Chr16:15708831 [GRCh38]
Chr16:15802688 [GRCh37]
Chr16:16p13.11		 benign|likely benign|uncertain significance
NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000415683]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184302]|not specified [RCV001193458] Chr16:15724729 [GRCh38]
Chr16:15818586 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000415719]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772071]|Isolated thoracic aortic aneurysm [RCV001374827]|not provided [RCV001555668] Chr16:15714963 [GRCh38]
Chr16:15808820 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.4360G>C (p.Asp1454His) single nucleotide variant Tricuspid regurgitation [RCV000414859] Chr16:15724166 [GRCh38]
Chr16:15818023 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000557522]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176125]|not provided [RCV002254933]|not specified [RCV000780515] Chr16:15719296 [GRCh38]
Chr16:15813153 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000537463]|Aortic aneurysm, familial thoracic 4 [RCV002483421]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772099] Chr16:15719299 [GRCh38]
Chr16:15813156 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4533C>T (p.Ala1511=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000535564]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177342]|not provided [RCV001644647] Chr16:15721467 [GRCh38]
Chr16:15815324 [GRCh37]
Chr16:16p13.11		 likely benign
Single allele deletion 16p13.11 recurrent microdeletion syndrome [RCV003221320] Chr16:14692101..16527136 [GRCh38]
Chr16:16p13.12-13.11		 likely pathogenic
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000541780]|Aortic aneurysm, familial thoracic 4 [RCV002497127]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180820]|not provided [RCV001775863] Chr16:15720924 [GRCh38]
Chr16:15814781 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4578+1G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000550319]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150197]|not provided [RCV000412872] Chr16:15721421 [GRCh38]
Chr16:15815278 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_002474.3(MYH11):c.5261C>T (p.Ala1754Val) single nucleotide variant not specified [RCV000412848] Chr16:15718349 [GRCh38]
Chr16:15812206 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4008G>A (p.Thr1336=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000558582]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525511] Chr16:15724755 [GRCh38]
Chr16:15818612 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000556757]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776309]|MYH11-related condition [RCV003418092]|not provided [RCV000788492]|not specified [RCV000414111] Chr16:15721027 [GRCh38]
Chr16:15814884 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5832G>A (p.Ser1944=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000533840]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183476]|not provided [RCV001584279] Chr16:15708817 [GRCh38]
Chr16:15802674 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18242712)x3 copy number gain See cases [RCV000449425] Chr16:15316618..18242712 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15422920-18181971)x1 copy number loss See cases [RCV000449218] Chr16:15422920..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16533890)x3 copy number gain See cases [RCV000449310] Chr16:14866283..16533890 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866283-16494783)x1 copy number loss See cases [RCV000449476] Chr16:14866283..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892713-16533890)x3 copy number gain See cases [RCV000447682] Chr16:14892713..16533890 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16533890)x1 copy number loss See cases [RCV000446976] Chr16:14892880..16533890 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16327171)x3 copy number gain See cases [RCV000446987] Chr16:15494600..16327171 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897372-16495076)x1 copy number loss See cases [RCV000446228] Chr16:14897372..16495076 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16390970)x3 copy number gain See cases [RCV000446288] Chr16:14866283..16390970 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:14866283-16855348)x3 copy number gain See cases [RCV000446392] Chr16:14866283..16855348 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14910205-16586870)x3 copy number gain See cases [RCV000446726] Chr16:14910205..16586870 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3 copy number gain See cases [RCV000447011] Chr16:15316618..18185466 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18172468)x3 copy number gain See cases [RCV000447066] Chr16:15193982..18172468 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14899958-16519467)x3 copy number gain See cases [RCV000446766] Chr16:14899958..16519467 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15418908-16388596)x3 copy number gain See cases [RCV000446781] Chr16:15418908..16388596 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897243-16516109)x3 copy number gain See cases [RCV000447511] Chr16:14897243..16516109 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15489920-16292181)x3 copy number gain See cases [RCV000447647] Chr16:15489920..16292181 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000698929]|Congenital aneurysm of ascending aorta [RCV001796029]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188909]|not provided [RCV000762208] Chr16:15718434 [GRCh38]
Chr16:15812291 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000556988]|Congenital aneurysm of ascending aorta [RCV001796028]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314119] Chr16:15721604 [GRCh38]
Chr16:15815461 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5817C>A (p.Pro1939=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001491812]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528171]|not provided [RCV000865199] Chr16:15708832 [GRCh38]
Chr16:15802689 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14906734-16498084)x1 copy number loss See cases [RCV000445845] Chr16:14906734..16498084 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.4659C>T (p.Asp1553=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000535083]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771851]|MYH11-related condition [RCV003932650]|not provided [RCV003311814]|not specified [RCV000427691] Chr16:15720971 [GRCh38]
Chr16:15814828 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.947+11924G>A single nucleotide variant not provided [RCV001721282] Chr16:15708784 [GRCh38]
Chr16:15802641 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.*172G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002059745]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189154]|not specified [RCV000424393] Chr16:15724423 [GRCh38]
Chr16:15818280 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.947+7118T>C single nucleotide variant not specified [RCV000431717] Chr16:15703978 [GRCh38]
Chr16:15797835 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.711C>T (p.Asp237=) single nucleotide variant not provided [RCV001703693]|not specified [RCV000442126] Chr16:15694172 [GRCh38]
Chr16:15788029 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14928345-16294403)x3 copy number gain See cases [RCV000445858] Chr16:14928345..16294403 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15489920-16327171)x3 copy number gain See cases [RCV000445864] Chr16:15489920..16327171 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000771986]|not provided [RCV000421159] Chr16:15724181 [GRCh38]
Chr16:15818038 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5157T>C (p.Ser1719=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514366]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168702]|not specified [RCV000424581] Chr16:15719234 [GRCh38]
Chr16:15813091 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-3134G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000469493]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188361]|Stroke disorder [RCV002254695]|not specified [RCV000418874] Chr16:15721057 [GRCh38]
Chr16:15814914 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.4236G>A (p.Ala1412=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001450306]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191921]|not specified [RCV000421440] Chr16:15724290 [GRCh38]
Chr16:15818147 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-7057G>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000805610]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772000]|not specified [RCV000432004] Chr16:15717134 [GRCh38]
Chr16:15810991 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.948-4055C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002521687]|not specified [RCV000432515] Chr16:15720136 [GRCh38]
Chr16:15813993 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-3873C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805040]|not provided [RCV001718852] Chr16:15720318 [GRCh38]
Chr16:15814175 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.3927C>T (p.Asp1309=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000459838]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177603]|not provided [RCV001703466] Chr16:15724924 [GRCh38]
Chr16:15818781 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5053T>C (p.Leu1685=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001798811]|not specified [RCV000440116] Chr16:15719614 [GRCh38]
Chr16:15813471 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4374C>T (p.Ala1458=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000934946]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180316]|not specified [RCV000440146] Chr16:15721626 [GRCh38]
Chr16:15815483 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-2788A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002061441]|Aortic aneurysm, familial thoracic 4 [RCV002481300]|not provided [RCV001796035]|not specified [RCV000440485] Chr16:15721403 [GRCh38]
Chr16:15815260 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.4680C>T (p.Asp1560=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000548494]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183481]|not provided [RCV000420131] Chr16:15720950 [GRCh38]
Chr16:15814807 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.947+7112C>T single nucleotide variant not specified [RCV000423263] Chr16:15703972 [GRCh38]
Chr16:15797829 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.624C>T (p.Ala208=) single nucleotide variant Lissencephaly 4 [RCV001117339]|not provided [RCV000911390] Chr16:15691244 [GRCh38]
Chr16:15785101 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.831C>T (p.Leu277=) single nucleotide variant not provided [RCV000908425]|not specified [RCV000423387] Chr16:15696744 [GRCh38]
Chr16:15790601 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5586C>G (p.Arg1862=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000872257]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772017]|not specified [RCV000444708] Chr16:15715191 [GRCh38]
Chr16:15809048 [GRCh37]
Chr16:16p13.11		 benign|likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18191725)x3 copy number gain See cases [RCV000448998] Chr16:15193982..18191725 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14888582-16855348)x3 copy number gain See cases [RCV000448024] Chr16:14888582..16855348 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15539023-16291541) copy number gain Abnormal esophagus morphology [RCV000416782] Chr16:15539023..16291541 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14866283-16855477)x3 copy number gain See cases [RCV000448548] Chr16:14866283..16855477 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14985615-17000304) copy number gain Abnormal esophagus morphology [RCV000416828] Chr16:14985615..17000304 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15034035-15998820) copy number gain Abnormal esophagus morphology [RCV000416924] Chr16:15034035..15998820 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15420069-16388596)x1 copy number loss See cases [RCV000447918] Chr16:15420069..16388596 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16391910)x3 copy number gain See cases [RCV000447927] Chr16:15449696..16391910 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897243-16527476)x3 copy number gain See cases [RCV000447712] Chr16:14897243..16527476 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15180601)_(18778866_?)dup duplication Schizophrenia [RCV000416672] Chr16:15180601..18778866 [GRCh37]
Chr16:15088102..18686367 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16533107)x3 copy number gain See cases [RCV000448293] Chr16:14892880..16533107 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.(?_15318653)_(16292712_?)dup duplication Schizophrenia [RCV000416779] Chr16:15318653..16292712 [GRCh38]
Chr16:15412510..16386569 [GRCh37]
Chr16:15320011..16294070 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15481747-16390970)x3 copy number gain See cases [RCV000448300] Chr16:15481747..16390970 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15481920-16388244)x1 copy number loss See cases [RCV000448658] Chr16:15481920..16388244 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1 copy number loss See cases [RCV000448849] Chr16:14897625..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.10:g.(?_15031901)_(16512853_?)dup duplication Schizophrenia [RCV000416863] Chr16:15031901..16512853 [GRCh38]
Chr16:15125758..16606710 [GRCh37]
Chr16:15033259..16514211 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15054174-16327476)x3 copy number gain See cases [RCV000447738] Chr16:15054174..16327476 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NC_000016.10:g.(?_15330513)_(16443434_?)del deletion Schizophrenia [RCV000416922] Chr16:15330513..16443434 [GRCh38]
Chr16:15424370..16537291 [GRCh37]
Chr16:15331871..16444792 [NCBI36]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:14866283-16858476)x3 copy number gain See cases [RCV000448589] Chr16:14866283..16858476 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14905705-16391045)x1 copy number loss See cases [RCV000447968] Chr16:14905705..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16327171)x1 copy number loss See cases [RCV000448453] Chr16:15494600..16327171 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14900182-16519932)x3 copy number gain See cases [RCV000448468] Chr16:14900182..16519932 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4035G>A (p.Arg1345=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000474332] Chr16:15724728 [GRCh38]
Chr16:15818585 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4912A>G (p.Lys1638Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000463352]|not provided [RCV002223208] Chr16:15720192 [GRCh38]
Chr16:15814049 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4517A>G (p.Asn1506Ser) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000467014]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185792] Chr16:15721483 [GRCh38]
Chr16:15815340 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5165C>T (p.Ser1722Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000471059]|Aortic aneurysm, familial thoracic 4 [RCV002502614]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177372] Chr16:15719226 [GRCh38]
Chr16:15813083 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4484C>T (p.Ala1495Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000469486]|Inborn genetic diseases [RCV002523290] Chr16:15721516 [GRCh38]
Chr16:15815373 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.964C>T (p.Arg322Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002496878]|Aortic aneurysm, familial thoracic 4 [RCV002525971]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191587]|not provided [RCV000480228] Chr16:15724207 [GRCh38]
Chr16:15818064 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15796992)_(15932126_?)dup duplication Aortic aneurysm, familial thoracic 4 [RCV000463773] Chr16:15703135..15838269 [GRCh38]
Chr16:15796992..15932126 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-7058C>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000467498]|not provided [RCV000858945] Chr16:15717133 [GRCh38]
Chr16:15810990 [GRCh37]
Chr16:16p13.11		 likely benign
NC_000016.10:g.(?_15708803)_(15838269_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV000471265] Chr16:15708803..15838269 [GRCh38]
Chr16:15802660..15932126 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4662G>A (p.Glu1554=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000456372]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485585]|not provided [RCV001591111] Chr16:15720968 [GRCh38]
Chr16:15814825 [GRCh37]
Chr16:16p13.11		 likely benign
NC_000016.9:g.(?_15802660)_(15932126_?)dup duplication Aortic aneurysm, familial thoracic 4 [RCV000475324] Chr16:15708803..15838269 [GRCh38]
Chr16:15802660..15932126 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4993C>T (p.Arg1665Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000475772]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769659]|not provided [RCV000523310] Chr16:15719674 [GRCh38]
Chr16:15813531 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5396G>C (p.Ser1799Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000475948]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189405] Chr16:15717248 [GRCh38]
Chr16:15811105 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4632G>C (p.Met1544Ile) single nucleotide variant not provided [RCV000481463] Chr16:15720998 [GRCh38]
Chr16:15814855 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5767G>T (p.Ala1923Ser) single nucleotide variant not provided [RCV000485735] Chr16:15714928 [GRCh38]
Chr16:15808785 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.1002C>T (p.Ser334=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001481264] Chr16:15724245 [GRCh38]
Chr16:15818102 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001081156]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771372]|not provided [RCV000755579]|not specified [RCV001844167] Chr16:15714999 [GRCh38]
Chr16:15808856 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000461626]|Aortic aneurysm, familial thoracic 4 [RCV002489014]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180578]|not provided [RCV001556383]|not specified [RCV000506086] Chr16:15717308 [GRCh38]
Chr16:15811165 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-2553C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001505768]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524817] Chr16:15721638 [GRCh38]
Chr16:15815495 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5887G>A (p.Ala1963Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189159]|not provided [RCV000486651] Chr16:15704023 [GRCh38]
Chr16:15797880 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002475955]|Aortic aneurysm, familial thoracic 4 [RCV002526963]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805103]|not provided [RCV000478064] Chr16:15720270 [GRCh38]
Chr16:15814127 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001089216]|Connective tissue disorder [RCV000659929]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777832]|not provided [RCV000478153]|not specified [RCV003235238] Chr16:15715060 [GRCh38]
Chr16:15808917 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.4110C>T (p.Asn1370=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001453726] Chr16:15724653 [GRCh38]
Chr16:15818510 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-9287_948-9285del microsatellite not specified [RCV000482888] Chr16:15714901..15714903 [GRCh38]
Chr16:15808758..15808760 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3930G>A (p.Val1310=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001459880]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805088]|not provided [RCV000762210] Chr16:15724921 [GRCh38]
Chr16:15818778 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4418G>T (p.Arg1473Ile) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002496879]|Aortic aneurysm, familial thoracic 4 [RCV002526988]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329164]|not provided [RCV000478696] Chr16:15721582 [GRCh38]
Chr16:15815439 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001346748]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350080]|not provided [RCV000478759]|not specified [RCV001375555] Chr16:15717159 [GRCh38]
Chr16:15811016 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5396G>A (p.Ser1799Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000470016]|not provided [RCV003326433] Chr16:15717248 [GRCh38]
Chr16:15811105 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866284-16544419)x1 copy number loss See cases [RCV000510365] Chr16:14866284..16544419 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16328840)x3 copy number gain See cases [RCV000510529] Chr16:15449696..16328840 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.701G>A (p.Arg234His) single nucleotide variant Lissencephaly 4 [RCV001117340]|NDE1-related condition [RCV003960173]|NDE1-related microhydranencephaly [RCV000764026]|not provided [RCV000726873]|not specified [RCV000501933] Chr16:15691321 [GRCh38]
Chr16:15785178 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3 copy number gain not provided [RCV000509488] Chr16:15507184..18141051 [GRCh37]
Chr16:16p13.11-12.3		 not provided
GRCh37/hg19 16p13.11(chr16:14893032-16533107)x3 copy number gain See cases [RCV000510233] Chr16:14893032..16533107 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15766250)_(16185056_?)del deletion Pseudoxanthoma elasticum [RCV000499142] Chr16:15766250..16185056 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_017668.3(NDE1):c.945G>A (p.Lys315=) single nucleotide variant not specified [RCV000504520] Chr16:15696858 [GRCh38]
Chr16:15790715 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.909A>T (p.Arg303Ser) single nucleotide variant not provided [RCV003727743]|not specified [RCV000502133] Chr16:15696822 [GRCh38]
Chr16:15790679 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.627G>C (p.Thr209=) single nucleotide variant not specified [RCV000500161] Chr16:15691247 [GRCh38]
Chr16:15785104 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.83+1G>T single nucleotide variant Lissencephaly 4 [RCV000500421] Chr16:15664862 [GRCh38]
Chr16:15758719 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_017668.3(NDE1):c.792C>T (p.Val264=) single nucleotide variant not specified [RCV000500381] Chr16:15694253 [GRCh38]
Chr16:15788110 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14866284-16544419)x3 copy number gain See cases [RCV000510618] Chr16:14866284..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897625-16391910)x1 copy number loss See cases [RCV000512040] Chr16:14897625..16391910 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14888582-16544419)x3 copy number gain See cases [RCV000511651] Chr16:14888582..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14896385-16519643)x1 copy number loss See cases [RCV000511661] Chr16:14896385..16519643 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15450289-16544419)x3 copy number gain See cases [RCV000511929] Chr16:15450289..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3 copy number gain See cases [RCV000511683] Chr16:14866283..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15481920-18181971)x1 copy number loss See cases [RCV000511758] Chr16:15481920..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866283-16516109)x3 copy number gain See cases [RCV000511420] Chr16:14866283..16516109 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14900182-16533242)x3 copy number gain See cases [RCV000511709] Chr16:14900182..16533242 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14906734-16330672)x1 copy number loss See cases [RCV000511713] Chr16:14906734..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16529801)x3 copy number gain See cases [RCV000511718] Chr16:14892880..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14888582-16391910)x3 copy number gain See cases [RCV000511990] Chr16:14888582..16391910 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14899630-16458353)x1 copy number loss See cases [RCV000511863] Chr16:14899630..16458353 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16391909)x3 copy number gain See cases [RCV000511947] Chr16:15449696..16391909 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4628A>C (p.Glu1543Ala) single nucleotide variant not specified [RCV000508152] Chr16:15721002 [GRCh38]
Chr16:15814859 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15449696-16330627)x1 copy number loss See cases [RCV000510875] Chr16:15449696..16330627 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15049968-16218828)x3 copy number gain See cases [RCV000511016] Chr16:15049968..16218828 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866284-16391910)x3 copy number gain See cases [RCV000511064] Chr16:14866284..16391910 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15449696-16319630)x1 copy number loss See cases [RCV000510829] Chr16:15449696..16319630 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15509728-16330672)x1 copy number loss See cases [RCV000510841] Chr16:15509728..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16529801)x3 copy number gain See cases [RCV000511276] Chr16:14866283..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*631A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000543624]|Connective tissue disorder [RCV000659917]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191096]|Inborn genetic diseases [RCV001267629]|not provided [RCV001569466] Chr16:15724882 [GRCh38]
Chr16:15818739 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
GRCh37/hg19 16p13.11(chr16:14906845-16515901)x1 copy number loss See cases [RCV000510780] Chr16:14906845..16515901 [GRCh37]
Chr16:16p13.11		 pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16514368)x1 copy number loss See cases [RCV000511286] Chr16:15449696..16514368 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892914-16529555)x3 copy number gain See cases [RCV000511004] Chr16:14892914..16529555 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14893385-16544419)x3 copy number gain See cases [RCV000510967] Chr16:14893385..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4002G>T (p.Val1334=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003301234] Chr16:15724761 [GRCh38]
Chr16:15818618 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3968T>C (p.Leu1323Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003301236] Chr16:15724795 [GRCh38]
Chr16:15818652 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_002474.3(MYH11):c.5215G>A (p.Ala1739Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000536102]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178597]|not provided [RCV000658208] Chr16:15718395 [GRCh38]
Chr16:15812252 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5076A>G (p.Leu1692=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001479279]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313403] Chr16:15719591 [GRCh38]
Chr16:15813448 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_017668.3(NDE1):c.948-3361A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000556325] Chr16:15720830 [GRCh38]
Chr16:15814687 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
NM_017668.3(NDE1):c.948-4626C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002529648]|not specified [RCV000603269] Chr16:15719565 [GRCh38]
Chr16:15813422 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4262C>T (p.Thr1421Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313409] Chr16:15724264 [GRCh38]
Chr16:15818121 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4638G>A (p.Thr1546=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001464911]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189936] Chr16:15720992 [GRCh38]
Chr16:15814849 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5684G>A (p.Arg1895His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002491327]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179345] Chr16:15715011 [GRCh38]
Chr16:15808868 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4306T>G (p.Leu1436Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003305457] Chr16:15724220 [GRCh38]
Chr16:15818077 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-4464C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002066680]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191327]|not specified [RCV000607422] Chr16:15719727 [GRCh38]
Chr16:15813584 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5121C>T (p.Asp1707=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003301227] Chr16:15719270 [GRCh38]
Chr16:15813127 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5198G>A (p.Arg1733His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003301231] Chr16:15718412 [GRCh38]
Chr16:15812269 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-39G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641584]|Stroke disorder [RCV002287432]|not provided [RCV001579861] Chr16:15724152 [GRCh38]
Chr16:15818009 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.4761T>C (p.Asn1587=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641637]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181539] Chr16:15720869 [GRCh38]
Chr16:15814726 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.762C>T (p.Leu254=) single nucleotide variant not specified [RCV000609659] Chr16:15694223 [GRCh38]
Chr16:15788080 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-9300G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002064332]|not specified [RCV000609716] Chr16:15714891 [GRCh38]
Chr16:15808748 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000765254]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181545]|not provided [RCV001508774] Chr16:15720883 [GRCh38]
Chr16:15814740 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4728C>G (p.Phe1576Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000706681]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185564] Chr16:15720902 [GRCh38]
Chr16:15814759 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5214C>T (p.Ile1738=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001455572]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176358]|not provided [RCV000926775] Chr16:15718396 [GRCh38]
Chr16:15812253 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.947+11989AG[3] microsatellite Aortic aneurysm, familial thoracic 4 [RCV001088491]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771863]|not provided [RCV000728024] Chr16:15708849..15708850 [GRCh38]
Chr16:15802706..15802707 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5338G>T (p.Ala1780Ser) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001242216]|Aortic aneurysm, familial thoracic 4 [RCV002491328]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185276] Chr16:15717306 [GRCh38]
Chr16:15811163 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5760G>A (p.Glu1920=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001404996]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186533]|MYH11-related condition [RCV003905657]|not specified [RCV000613011] Chr16:15714935 [GRCh38]
Chr16:15808792 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4353G>A (p.Arg1451=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313397] Chr16:15724173 [GRCh38]
Chr16:15818030 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5451G>A (p.Ala1817=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001860285]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160091]|not specified [RCV000610387] Chr16:15717193 [GRCh38]
Chr16:15811050 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5328G>A (p.Glu1776=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002066880]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343169]|not provided [RCV001712705] Chr16:15717316 [GRCh38]
Chr16:15811173 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4674G>A (p.Thr1558=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000538273]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186897]|not specified [RCV000608746] Chr16:15720956 [GRCh38]
Chr16:15814813 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14819740-16364041)x3 copy number gain not provided [RCV003312362] Chr16:14819740..16364041 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_017668.3(NDE1):c.947+12000C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002066681]|not specified [RCV000613360] Chr16:15708860 [GRCh38]
Chr16:15802717 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-9092del deletion not specified [RCV000616688] Chr16:15715099 [GRCh38]
Chr16:15808956 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5454G>A (p.Ala1818=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000870698]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181800]|not provided [RCV001697957] Chr16:15717190 [GRCh38]
Chr16:15811047 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity
NM_017668.3(NDE1):c.948-5886C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000538805] Chr16:15718305 [GRCh38]
Chr16:15812162 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4988A>T (p.Asp1663Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641591] Chr16:15719679 [GRCh38]
Chr16:15813536 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4974A>G (p.Gln1658=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641641]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303031] Chr16:15719693 [GRCh38]
Chr16:15813550 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_017668.3(NDE1):c.948-3126G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000659921]|Connective tissue disorder [RCV000680554]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180294]|not provided [RCV001811110]|not specified [RCV000611015] Chr16:15721065 [GRCh38]
Chr16:15814922 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
NM_002474.3(MYH11):c.3891C>T (p.Asn1297=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001438015]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771853]|not provided [RCV000539543] Chr16:15724960 [GRCh38]
Chr16:15818817 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14900131-16529801)x3 copy number gain See cases [RCV000512246] Chr16:14900131..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14892880-16544018)x3 copy number gain See cases [RCV000512602] Chr16:14892880..16544018 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-6840G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000802966]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524542] Chr16:15717351 [GRCh38]
Chr16:15811208 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-40C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000625463] Chr16:15724151 [GRCh38]
Chr16:15818008 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14893032-16529801)x3 copy number gain See cases [RCV000512363] Chr16:14893032..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15450289-16508304)x3 copy number gain See cases [RCV000512364] Chr16:15450289..16508304 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15449696-16529876)x3 copy number gain See cases [RCV000512404] Chr16:15449696..16529876 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5829A>G (p.Gly1943=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002498947]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186058]|not specified [RCV000607949] Chr16:15704081 [GRCh38]
Chr16:15797938 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14900072-16544419)x3 copy number gain See cases [RCV000512370] Chr16:14900072..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15049968-16391910)x1 copy number loss See cases [RCV000512373] Chr16:15049968..16391910 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1 copy number loss See cases [RCV000512560] Chr16:14897625..16516109 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15420069-16388244)x1 copy number loss See cases [RCV000512563] Chr16:15420069..16388244 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14901996-16544419)x3 copy number gain See cases [RCV000512570] Chr16:14901996..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641583]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176308]|not provided [RCV003117448]|not specified [RCV001532984] Chr16:15724977 [GRCh38]
Chr16:15818834 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5108G>A (p.Arg1703His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641600] Chr16:15719283 [GRCh38]
Chr16:15813140 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-3872G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000641616]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190901] Chr16:15720319 [GRCh38]
Chr16:15814176 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity
NM_002474.3(MYH11):c.4872G>A (p.Gly1624=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002532749]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190496]|not specified [RCV000606444] Chr16:15720232 [GRCh38]
Chr16:15814089 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15476223-16458423)x3 copy number gain See cases [RCV000512343] Chr16:15476223..16458423 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5897A>G (p.Asn1966Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176897]|Wolff-Parkinson-White pattern [RCV000656148] Chr16:15704013 [GRCh38]
Chr16:15797870 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*755G>A single nucleotide variant Connective tissue disorder [RCV000659915] Chr16:15725006 [GRCh38]
Chr16:15818863 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5354G>C (p.Ser1785Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000685233] Chr16:15717290 [GRCh38]
Chr16:15811147 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.12-12.3(chr16:14780543-16855348)x1 copy number loss not provided [RCV000683767] Chr16:14780543..16855348 [GRCh37]
Chr16:16p13.12-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3 copy number gain not provided [RCV000683773] Chr16:15316618..18185466 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15351247-16458408)x1 copy number loss not provided [RCV000683775] Chr16:15351247..16458408 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16330627)x1 copy number loss not provided [RCV000683777] Chr16:15449696..16330627 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15507898-16294847)x1 copy number loss not provided [RCV000683780] Chr16:15507898..16294847 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val) single nucleotide variant Connective tissue disorder [RCV000680550]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525870] Chr16:15717161 [GRCh38]
Chr16:15811018 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4598C>G (p.Ser1533Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001224467]|Connective tissue disorder [RCV000680553]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334240] Chr16:15721032 [GRCh38]
Chr16:15814889 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
GRCh37/hg19 16p13.11(chr16:14892880-16521406)x1 copy number loss not provided [RCV000683769] Chr16:14892880..16521406 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18181971)x1 copy number loss not provided [RCV000683772] Chr16:15316618..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15318664-18778064)x1 copy number loss not provided [RCV000683774] Chr16:15318664..18778064 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15495265-16309185)x1 copy number loss not provided [RCV000683778] Chr16:15495265..16309185 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15509406-18181971)x3 copy number gain not provided [RCV000683781] Chr16:15509406..18181971 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14780641-16498084)x1 copy number loss not provided [RCV000683768] Chr16:14780641..16498084 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15419480-16494783)x1 copy number loss not provided [RCV000683776] Chr16:15419480..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15495265-16330672)x1 copy number loss not provided [RCV000683779] Chr16:15495265..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5241G>A (p.Glu1747=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804262] Chr16:15718369 [GRCh38]
Chr16:15812226 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001861882]|Aortic aneurysm, familial thoracic 4 [RCV002485570]|Connective tissue disorder [RCV000680552]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191124]|not provided [RCV001756147] Chr16:15720204 [GRCh38]
Chr16:15814061 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897625-16458408)x1 copy number loss not provided [RCV000683770] Chr16:14897625..16458408 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14899676-16391045)x1 copy number loss not provided [RCV000683771] Chr16:14899676..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001040113.2(MYH11):c.5831C>T (p.Ser1944Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000685245]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191640] Chr16:15708818 [GRCh38]
Chr16:15802675 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[3] (p.1741LEEE[3]) microsatellite Aortic aneurysm, familial thoracic 4 [RCV000704146]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524999]|MYH11-related condition [RCV003403633]|not provided [RCV001561922]|not specified [RCV003489833] Chr16:15718364..15718365 [GRCh38]
Chr16:15812221..15812222 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5497G>A (p.Glu1833Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000701803] Chr16:15717147 [GRCh38]
Chr16:15811004 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del) microsatellite Aortic aneurysm, familial thoracic 4 [RCV000704502]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176310]|MYH11-related condition [RCV003392541]|not specified [RCV001193454] Chr16:15720241..15720243 [GRCh38]
Chr16:15814098..15814100 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.635T>G (p.Val212Gly) single nucleotide variant not provided [RCV000712372] Chr16:15691255 [GRCh38]
Chr16:15785112 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4578+1G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000705664]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334385] Chr16:15721421 [GRCh38]
Chr16:15815278 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000705803]|Aortic aneurysm, familial thoracic 4 [RCV002485765]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798965] Chr16:15718400 [GRCh38]
Chr16:15812257 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4089G>T (p.Glu1363Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000688640]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176638] Chr16:15724674 [GRCh38]
Chr16:15818531 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs) deletion Aortic aneurysm, familial thoracic 4 [RCV000696364] Chr16:15719639..15719640 [GRCh38]
Chr16:15813496..15813497 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NC_000016.9:g.(?_15802662)_(15880595_?)dup duplication Aortic aneurysm, familial thoracic 4 [RCV000708309] Chr16:15708805..15786738 [GRCh38]
Chr16:15802662..15880595 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4578+1G>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000687071] Chr16:15721421 [GRCh38]
Chr16:15815278 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_017668.3(NDE1):c.948-6832G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629137]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774155] Chr16:15717359 [GRCh38]
Chr16:15811216 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5429C>A (p.Ser1810Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001000750] Chr16:15717215 [GRCh38]
Chr16:15811072 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4460C>G (p.Ser1487Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000806378] Chr16:15721540 [GRCh38]
Chr16:15815397 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*164A>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000804102]|Aortic aneurysm, familial thoracic 4 [RCV003224467]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774535] Chr16:15724415 [GRCh38]
Chr16:15818272 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5843T>C (p.Ile1948Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000768272]|Aortic aneurysm, familial thoracic 4 [RCV003224449]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189778] Chr16:15704067 [GRCh38]
Chr16:15797924 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NC_000016.10:g.(?_14780667)_(16415941_?)del deletion Schizophrenia [RCV000754170] Chr16:14780667..16415941 [GRCh38]
Chr16:16p13.11		 pathogenic
Single allele duplication Schizophrenia [RCV000754171] Chr16:15029830..16415941 [GRCh38]
Chr16:16p13.11		 pathogenic
Single allele duplication Schizophrenia [RCV000754172] Chr16:15030738..16517711 [GRCh38]
Chr16:16p13.11		 pathogenic
Single allele duplication Schizophrenia [RCV000754173] Chr16:15085515..18775195 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754174] Chr16:15279737..18291544 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754175] Chr16:15318125..16294378 [GRCh38]
Chr16:16p13.11		 pathogenic
NC_000016.10:g.(?_15328439)_(16443962_?)del deletion Schizophrenia [RCV000754176] Chr16:15328439..16443962 [GRCh38]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14759219-16419494)x1 copy number loss not provided [RCV000739062] Chr16:14759219..16419494 [GRCh37]
Chr16:16p13.12-13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14968859-16291983)x1 copy number loss not provided [RCV000739063] Chr16:14968859..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14968859-16303388)x1 copy number loss not provided [RCV000739064] Chr16:14968859..16303388 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14968859-16458748)x3 copy number gain not provided [RCV000739065] Chr16:14968859..16458748 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14975292-16306563)x1 copy number loss not provided [RCV000739066] Chr16:14975292..16306563 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15048643-16353166)x1 copy number loss not provided [RCV000739068] Chr16:15048643..16353166 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15051703-16343095)x3 copy number gain not provided [RCV000739069] Chr16:15051703..16343095 [GRCh37]
Chr16:16p13.11		 uncertain significance
Single allele duplication Autism [RCV000754177] Chr16:15375457..16198187 [GRCh38]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15051703-16356750)x3 copy number gain not provided [RCV000739070] Chr16:15051703..16356750 [GRCh37]
Chr16:16p13.11		 likely benign
NC_000016.10:g.(?_14757009)_(16763184_?)del deletion Autism [RCV000754169] Chr16:14757009..16763184 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
NM_002474.3(MYH11):c.4899C>A (p.Ala1633=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000937840]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190686] Chr16:15720205 [GRCh38]
Chr16:15814062 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.238-39G>A single nucleotide variant not provided [RCV001567421] Chr16:15677762 [GRCh38]
Chr16:15771619 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.109C>T (p.Arg37Ter) single nucleotide variant Lissencephaly 4 [RCV001335712]|not provided [RCV000760955] Chr16:15667311 [GRCh38]
Chr16:15761168 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_017668.3(NDE1):c.948-4244C>T single nucleotide variant not provided [RCV001569179] Chr16:15719947 [GRCh38]
Chr16:15813804 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4660G>A (p.Glu1554Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001068053]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187745] Chr16:15720970 [GRCh38]
Chr16:15814827 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5314G>A (p.Glu1772Lys) single nucleotide variant Inborn genetic diseases [RCV003267361] Chr16:15717330 [GRCh38]
Chr16:15811187 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*898_*900del deletion not provided [RCV001577300] Chr16:15725148..15725150 [GRCh38]
Chr16:15819005..15819007 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-9464C>G single nucleotide variant not provided [RCV001586902] Chr16:15714727 [GRCh38]
Chr16:15808584 [GRCh37]
Chr16:16p13.11		 likely benign
Single allele duplication Intestinal malrotation [RCV000754987] Chr16:15491492..16292218 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+7070T>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001117449] Chr16:15703930 [GRCh38]
Chr16:15797787 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-3355C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001117664]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181707] Chr16:15720836 [GRCh38]
Chr16:15814693 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15259141-18361376)x3 copy number gain not provided [RCV000751597] Chr16:15259141..18361376 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15469950-18172311)x3 copy number gain not provided [RCV000751599] Chr16:15469950..18172311 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
NM_001143979.2(NDE1):c.-302A>G single nucleotide variant Lissencephaly 4 [RCV001117133] Chr16:15643791 [GRCh38]
Chr16:15737648 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-2942C>T single nucleotide variant not provided [RCV001549911] Chr16:15721249 [GRCh38]
Chr16:15815106 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.*1656C>T single nucleotide variant Lissencephaly 4 [RCV001116534] Chr16:15725907 [GRCh38]
Chr16:15819764 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4159G>A (p.Val1387Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001046515]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183779]|not provided [RCV002307663] Chr16:15724367 [GRCh38]
Chr16:15818224 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4536A>G (p.Glu1512=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000864059]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175722] Chr16:15721464 [GRCh38]
Chr16:15815321 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4529A>G (p.Lys1510Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002066045]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178155]|not provided [RCV000926571] Chr16:15721471 [GRCh38]
Chr16:15815328 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.4786A>C (p.Arg1596=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001418311]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190890]|not specified [RCV003117627] Chr16:15720844 [GRCh38]
Chr16:15814701 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4648G>A (p.Glu1550Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000983926]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805950]|not specified [RCV003323772] Chr16:15720982 [GRCh38]
Chr16:15814839 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5175C>T (p.Asn1725=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001457431]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184432] Chr16:15718435 [GRCh38]
Chr16:15812292 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5736G>A (p.Glu1912=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000981257]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176021] Chr16:15714959 [GRCh38]
Chr16:15808816 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5322C>T (p.Ala1774=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514444] Chr16:15717322 [GRCh38]
Chr16:15811179 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5067C>A (p.Leu1689=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001485709] Chr16:15719600 [GRCh38]
Chr16:15813457 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-7060C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001496695] Chr16:15717131 [GRCh38]
Chr16:15810988 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.147A>G (p.Glu49=) single nucleotide variant not provided [RCV000884066] Chr16:15667349 [GRCh38]
Chr16:15761206 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5448C>T (p.Ile1816=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000950978]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184065] Chr16:15717196 [GRCh38]
Chr16:15811053 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3933G>T (p.Ala1311=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001490024] Chr16:15724918 [GRCh38]
Chr16:15818775 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5088C>T (p.Leu1696=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001078820]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177086] Chr16:15719303 [GRCh38]
Chr16:15813160 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.1004G>A (p.Cys335Tyr) single nucleotide variant not provided [RCV000996218] Chr16:15724247 [GRCh38]
Chr16:15818104 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.3935C>T (p.Ser1312Phe) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002549929]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191058] Chr16:15724916 [GRCh38]
Chr16:15818773 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3873C>T (p.Ser1291=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002067615]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188400] Chr16:15724978 [GRCh38]
Chr16:15818835 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15493046-16053729) copy number loss not provided [RCV000767581] Chr16:15493046..16053729 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14932264-16484731)x3 copy number gain not provided [RCV000996425] Chr16:14932264..16484731 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15797848-15950890)x3 copy number gain not provided [RCV000996426] Chr16:15797848..15950890 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15802668-15932109)x3 copy number gain not provided [RCV000996427] Chr16:15802668..15932109 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5069T>C (p.Met1690Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001056072] Chr16:15719598 [GRCh38]
Chr16:15813455 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5197C>T (p.Arg1733Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001061952]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528265] Chr16:15718413 [GRCh38]
Chr16:15812270 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15125627-16291983) copy number loss not provided [RCV000767695] Chr16:15125627..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.10:g.(?_15703981)_(16208869_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV001032716] Chr16:15797838..16302726 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001040113.2(MYH11):c.5812C>G (p.Pro1938Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001057473] Chr16:15708837 [GRCh38]
Chr16:15802694 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.(?_15395898)_(15884205_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV001032826] Chr16:15489755..15978062 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5732C>G (p.Thr1911Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001054167]|not specified [RCV001290570] Chr16:15714963 [GRCh38]
Chr16:15808820 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5238G>A (p.Glu1746=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002534069]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773477] Chr16:15718372 [GRCh38]
Chr16:15812229 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4123G>A (p.Asp1375Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001245253]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773560] Chr16:15724403 [GRCh38]
Chr16:15818260 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-5742G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000773745] Chr16:15718449 [GRCh38]
Chr16:15812306 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5607G>A (p.Lys1869=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002068508]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773793]|not specified [RCV000781629] Chr16:15715170 [GRCh38]
Chr16:15809027 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4797C>T (p.His1599=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001499650]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773999] Chr16:15720307 [GRCh38]
Chr16:15814164 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5187C>T (p.Asp1729=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001001045]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774101] Chr16:15718423 [GRCh38]
Chr16:15812280 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5052C>T (p.Ser1684=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001467111]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774261] Chr16:15719615 [GRCh38]
Chr16:15813472 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5353A>T (p.Ser1785Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000864791]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774447] Chr16:15717291 [GRCh38]
Chr16:15811148 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5248G>A (p.Gly1750Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000774518] Chr16:15718362 [GRCh38]
Chr16:15812219 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14975292-16289532) copy number gain not provided [RCV000767576] Chr16:14975292..16289532 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_017668.3(NDE1):c.237+137C>G single nucleotide variant not provided [RCV000826410] Chr16:15667576 [GRCh38]
Chr16:15761433 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:14975292-16301530) copy number gain not provided [RCV000767574] Chr16:14975292..16301530 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15395312-16210889) copy number loss not provided [RCV000767579] Chr16:15395312..16210889 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15129970-16284116) copy number gain not provided [RCV000767605] Chr16:15129970..16284116 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.3894G>C (p.Glu1298Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000808702] Chr16:15724957 [GRCh38]
Chr16:15818814 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5302C>G (p.Gln1768Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001188244]|Inborn genetic diseases [RCV002536873]|MYH11-related condition [RCV003396359]|not specified [RCV000781630] Chr16:15717342 [GRCh38]
Chr16:15811199 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4953G>C (p.Gln1651His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001116220]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776361]|MYH11-related condition [RCV003396347] Chr16:15720151 [GRCh38]
Chr16:15814008 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15168667-16291983) copy number gain not provided [RCV000767606] Chr16:15168667..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter) single nucleotide variant Familial aortopathy [RCV000780508] Chr16:15720279 [GRCh38]
Chr16:15814136 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.5614G>A (p.Ala1872Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002536667]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773980] Chr16:15715081 [GRCh38]
Chr16:15808938 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5120A>G (p.Asp1707Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000774038] Chr16:15719271 [GRCh38]
Chr16:15813128 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4773G>A (p.Arg1591=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001446906]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774325]|not provided [RCV003326493] Chr16:15720857 [GRCh38]
Chr16:15814714 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5299G>A (p.Glu1767Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000774332]|not specified [RCV003387927] Chr16:15717345 [GRCh38]
Chr16:15811202 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5713C>T (p.Arg1905Trp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003117563]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774519]|not provided [RCV002223932] Chr16:15714982 [GRCh38]
Chr16:15808839 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15126709-16292235) copy number gain not provided [RCV000767763] Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_017668.3(NDE1):c.947+11990G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629134]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770687] Chr16:15708850 [GRCh38]
Chr16:15802707 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) deletion Chronic intestinal pseudoobstruction [RCV000771021]|MYH11-related condition [RCV003392583]|Visceral myopathy 2 [RCV001449895]|not provided [RCV000852383] Chr16:15708830 [GRCh38]
Chr16:15802687 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 16p13.11(chr16:15126709-16292235) copy number gain not provided [RCV000767824] Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_017668.3(NDE1):c.145G>T (p.Glu49Ter) single nucleotide variant Lissencephaly 4 [RCV000778457] Chr16:15667347 [GRCh38]
Chr16:15761204 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5253C>T (p.Asn1751=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001505958]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175879] Chr16:15718357 [GRCh38]
Chr16:15812214 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15425965-16199736) copy number loss not provided [RCV000767843] Chr16:15425965..16199736 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.4515C>G (p.Thr1505=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001447350]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189463] Chr16:15721485 [GRCh38]
Chr16:15815342 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.83+9G>A single nucleotide variant not provided [RCV000940390] Chr16:15664870 [GRCh38]
Chr16:15758727 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15551302-18306854)x3 copy number gain not provided [RCV000856643] Chr16:15551302..18306854 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_001040113.2(MYH11):c.5819_5820insCA (p.Gln1941fs) insertion Aortic aneurysm, familial thoracic 4 [RCV000855721]|Esophageal and colonic dysmotility [RCV000855720]|Visceral myopathy 2 [RCV001449894] Chr16:15708829..15708830 [GRCh38]
Chr16:15802686..15802687 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|likely benign
NM_017668.3(NDE1):c.948-3870G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001439843]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187463] Chr16:15720321 [GRCh38]
Chr16:15814178 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.12-13.11(chr16:14766480-16286694) copy number gain not provided [RCV000767573] Chr16:14766480..16286694 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15125627-16286750) copy number gain not provided [RCV000767577] Chr16:15125627..16286750 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15126709-16292235) copy number gain not provided [RCV000767578] Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15493046-16291983) copy number loss not provided [RCV000767580] Chr16:15493046..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15548310-17988303) copy number loss not provided [RCV000767583] Chr16:15548310..17988303 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_017668.3(NDE1):c.639G>A (p.Pro213=) single nucleotide variant not provided [RCV000920018] Chr16:15691259 [GRCh38]
Chr16:15785116 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.300C>T (p.Leu100=) single nucleotide variant not provided [RCV000919186] Chr16:15677863 [GRCh38]
Chr16:15771720 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4822G>A (p.Glu1608Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000868059]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190583]|not provided [RCV001759650] Chr16:15720282 [GRCh38]
Chr16:15814139 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.948-3873C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000921958]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525131] Chr16:15720318 [GRCh38]
Chr16:15814175 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15521713-16292235) copy number loss not provided [RCV000767582] Chr16:15521713..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.4355A>G (p.Lys1452Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000769665] Chr16:15724171 [GRCh38]
Chr16:15818028 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5453C>T (p.Ala1818Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629135]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773349] Chr16:15717191 [GRCh38]
Chr16:15811048 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4587G>A (p.Glu1529=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000774081] Chr16:15721043 [GRCh38]
Chr16:15814900 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4096A>G (p.Ile1366Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001349477]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774188] Chr16:15724667 [GRCh38]
Chr16:15818524 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.3897C>A (p.Ala1299=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002068512]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774454] Chr16:15724954 [GRCh38]
Chr16:15818811 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4906G>C (p.Ala1636Pro) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001856090]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774540] Chr16:15720198 [GRCh38]
Chr16:15814055 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15034210-16199736) copy number gain not provided [RCV000767668] Chr16:15034210..16199736 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.4953+2T>C single nucleotide variant not provided [RCV003313414] Chr16:15720149 [GRCh38]
Chr16:15814006 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15758011-15761384) copy number loss Lissencephaly 4 [RCV000767831] Chr16:15758011..15761384 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_017668.3(NDE1):c.947+11935C>T single nucleotide variant not provided [RCV000841387] Chr16:15708795 [GRCh38]
Chr16:15802652 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.987C>T (p.Thr329=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001502225]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525102]|not provided [RCV000828325] Chr16:15724230 [GRCh38]
Chr16:15818087 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-4103C>T single nucleotide variant not provided [RCV000831615] Chr16:15720088 [GRCh38]
Chr16:15813945 [GRCh37]
Chr16:16p13.11		 benign
NM_002474.3(MYH11):c.4235C>T (p.Ala1412Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000819370]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189311] Chr16:15724291 [GRCh38]
Chr16:15818148 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4060G>A (p.Glu1354Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000823507]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186088] Chr16:15724703 [GRCh38]
Chr16:15818560 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5166G>A (p.Ser1722=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001455890]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336810]|not provided [RCV000869486] Chr16:15719225 [GRCh38]
Chr16:15813082 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15493046-18157612)x3 copy number gain See cases [RCV000790572] Chr16:15493046..18157612 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_017668.3(NDE1):c.948-2426A>G single nucleotide variant not provided [RCV000836014] Chr16:15721765 [GRCh38]
Chr16:15815622 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-3000A>G single nucleotide variant not provided [RCV000836015] Chr16:15721191 [GRCh38]
Chr16:15815048 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-5498C>T single nucleotide variant not provided [RCV000832213] Chr16:15718693 [GRCh38]
Chr16:15812550 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5232G>A (p.Glu1744=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001456908]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179748] Chr16:15718378 [GRCh38]
Chr16:15812235 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.947+7493G>T single nucleotide variant not provided [RCV000838107] Chr16:15704353 [GRCh38]
Chr16:15798210 [GRCh37]
Chr16:16p13.11		 benign
NM_001143979.1:c.-43-?_*2102+?dup duplication not provided [RCV000891695]   benign
NM_017668.3(NDE1):c.948-5952G>A single nucleotide variant not provided [RCV000834632] Chr16:15718239 [GRCh38]
Chr16:15812096 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.948-7166G>C single nucleotide variant not provided [RCV000834633] Chr16:15717025 [GRCh38]
Chr16:15810882 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.948-9502G>T single nucleotide variant not provided [RCV000834634] Chr16:15714689 [GRCh38]
Chr16:15808546 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.387C>T (p.Arg129=) single nucleotide variant not provided [RCV000840121] Chr16:15687375 [GRCh38]
Chr16:15781232 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity
NC_000016.10:g.15725198G>A single nucleotide variant not provided [RCV000834766] Chr16:15819055 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.948-3771A>G single nucleotide variant not provided [RCV000834767] Chr16:15720420 [GRCh38]
Chr16:15814277 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.948-4282C>A single nucleotide variant not provided [RCV000834768] Chr16:15719909 [GRCh38]
Chr16:15813766 [GRCh37]
Chr16:16p13.11		 benign
NM_002474.3(MYH11):c.5055G>C (p.Leu1685Phe) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000818214]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189309] Chr16:15719612 [GRCh38]
Chr16:15813469 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-4837G>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001776052]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001776053]|Visceral myopathy 2 [RCV001776054]|not provided [RCV000830173] Chr16:15719354 [GRCh38]
Chr16:15813211 [GRCh37]
Chr16:16p13.11		 benign
NC_000016.10:g.(?_15703981)_(15838262_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV000813335] Chr16:15703981..15838262 [GRCh38]
Chr16:15797838..15932119 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_017668.3(NDE1):c.238-57T>C single nucleotide variant not provided [RCV000833467] Chr16:15677744 [GRCh38]
Chr16:15771601 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.948-9104G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001439396]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184247] Chr16:15715087 [GRCh38]
Chr16:15808944 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.83+188T>C single nucleotide variant not provided [RCV000830133] Chr16:15665049 [GRCh38]
Chr16:15758906 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.947+12229G>T single nucleotide variant not provided [RCV000830174] Chr16:15709089 [GRCh38]
Chr16:15802946 [GRCh37]
Chr16:16p13.11		 benign
NM_002474.3(MYH11):c.4480G>A (p.Glu1494Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000799073]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190555]|not provided [RCV002261209] Chr16:15721520 [GRCh38]
Chr16:15815377 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.973T>C (p.Ser325Pro) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000804234]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183896] Chr16:15724216 [GRCh38]
Chr16:15818073 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-3578A>G single nucleotide variant not provided [RCV000838194] Chr16:15720613 [GRCh38]
Chr16:15814470 [GRCh37]
Chr16:16p13.11		 benign
NC_000016.10:g.15724138G>A single nucleotide variant not provided [RCV000834589] Chr16:15817995 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:15792748-15907589)x3 copy number gain not provided [RCV000849922] Chr16:15792748..15907589 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000823185]|Aortic aneurysm, familial thoracic 4 [RCV002501143]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336721] Chr16:15721024 [GRCh38]
Chr16:15814881 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4835G>A (p.Arg1612His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000795576]|Aortic aneurysm, familial thoracic 4 [RCV002493440]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525948]|not provided [RCV000788703] Chr16:15720269 [GRCh38]
Chr16:15814126 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-5057A>C single nucleotide variant not provided [RCV000836017] Chr16:15719134 [GRCh38]
Chr16:15812991 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.940G>C (p.Asp314His) single nucleotide variant not specified [RCV000784931] Chr16:15696853 [GRCh38]
Chr16:15790710 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.387-178A>G single nucleotide variant not provided [RCV000826413] Chr16:15687197 [GRCh38]
Chr16:15781054 [GRCh37]
Chr16:16p13.11		 benign
NM_002474.3(MYH11):c.5360_5362dup (p.Arg1787dup) duplication Aortic aneurysm, familial thoracic 4 [RCV000805160] Chr16:15717281..15717282 [GRCh38]
Chr16:15811138..15811139 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-340T>C single nucleotide variant not provided [RCV000840539] Chr16:15723851 [GRCh38]
Chr16:15817708 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.948-7319G>C single nucleotide variant not provided [RCV000840540] Chr16:15716872 [GRCh38]
Chr16:15810729 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.387-140G>T single nucleotide variant not provided [RCV000829614] Chr16:15687235 [GRCh38]
Chr16:15781092 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.*312C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001117773]|Lissencephaly 4 [RCV001117774] Chr16:15724563 [GRCh38]
Chr16:15818420 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.712G>A (p.Asp238Asn) single nucleotide variant Lissencephaly 4 [RCV001117341] Chr16:15694173 [GRCh38]
Chr16:15788030 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15797838)_(15932119_?)dup duplication Aortic aneurysm, familial thoracic 4 [RCV000805288] Chr16:15703981..15838262 [GRCh38]
Chr16:15797838..15932119 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5365C>G (p.Gln1789Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000793472] Chr16:15717279 [GRCh38]
Chr16:15811136 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-6794G>C single nucleotide variant not provided [RCV000830229] Chr16:15717397 [GRCh38]
Chr16:15811254 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.291G>A (p.Glu97=) single nucleotide variant Lissencephaly 4 [RCV001115881]|not provided [RCV002069863] Chr16:15677854 [GRCh38]
Chr16:15771711 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.*1209T>G single nucleotide variant Lissencephaly 4 [RCV001119436] Chr16:15725460 [GRCh38]
Chr16:15819317 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14900168-16869135)x3 copy number gain not provided [RCV001006774] Chr16:14900168..16869135 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_002474.3(MYH11):c.5490C>A (p.Val1830=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002538249]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184845]|not provided [RCV000826960] Chr16:15717154 [GRCh38]
Chr16:15811011 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.948-5467G>C single nucleotide variant not provided [RCV000840468] Chr16:15718724 [GRCh38]
Chr16:15812581 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4637C>T (p.Thr1546Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000791960]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177087]|not provided [RCV001092819] Chr16:15720993 [GRCh38]
Chr16:15814850 [GRCh37]
Chr16:16p13.11		 uncertain significance
Single allele deletion Rubinstein-Taybi syndrome due to 16p13.3 microdeletion [RCV000844925] Chr16:15154115..16276115 [GRCh37]
Chr16:16p13.11		 not provided
NM_002474.3(MYH11):c.4127C>T (p.Ser1376Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000792024]|Aortic aneurysm, familial thoracic 4 [RCV002487638]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182047]|not provided [RCV001592968] Chr16:15724399 [GRCh38]
Chr16:15818256 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.15724453G>A single nucleotide variant not provided [RCV000831614] Chr16:15818310 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.948-4415G>A single nucleotide variant not provided [RCV000831616] Chr16:15719776 [GRCh38]
Chr16:15813633 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.947+12261T>C single nucleotide variant not provided [RCV000830230] Chr16:15709121 [GRCh38]
Chr16:15802978 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-3111A>G single nucleotide variant not provided [RCV000836016] Chr16:15721080 [GRCh38]
Chr16:15814937 [GRCh37]
Chr16:16p13.11		 likely benign
NC_000016.10:g.15708831G>C single nucleotide variant not provided [RCV000836072] Chr16:15802688 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5485C>A (p.Gln1829Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001116104]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188658] Chr16:15717159 [GRCh38]
Chr16:15811016 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6524C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001120918] Chr16:15703384 [GRCh38]
Chr16:15797241 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1567G>T single nucleotide variant Lissencephaly 4 [RCV001116532] Chr16:15725818 [GRCh38]
Chr16:15819675 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1674A>C single nucleotide variant Lissencephaly 4 [RCV001116536] Chr16:15725925 [GRCh38]
Chr16:15819782 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*901C>A single nucleotide variant Lissencephaly 4 [RCV001117879] Chr16:15725152 [GRCh38]
Chr16:15819009 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.(?_15395898)_(15888585_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV001032140] Chr16:15489755..15982442 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14893566-16330627)x1 copy number loss not provided [RCV001006771] Chr16:14893566..16330627 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5371G>C (p.Glu1791Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629162]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181361]|not provided [RCV002223277] Chr16:15717273 [GRCh38]
Chr16:15811130 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.2(NDE1):c.-246A>C single nucleotide variant Lissencephaly 4 [RCV001118771] Chr16:15643847 [GRCh38]
Chr16:15737704 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6500G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001120915] Chr16:15703360 [GRCh38]
Chr16:15797217 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001143979.1(NDE1):c.-794C>T single nucleotide variant Lissencephaly 4 [RCV001115705] Chr16:15643299 [GRCh38]
Chr16:15737156 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.1(NDE1):c.-825G>A single nucleotide variant Lissencephaly 4 [RCV001120618] Chr16:15643268 [GRCh38]
Chr16:15737125 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.12-13.11(chr16:14770672-16388343)x1 copy number loss not provided [RCV001006768] Chr16:14770672..16388343 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16514111)x1 copy number loss not provided [RCV001006772] Chr16:14897625..16514111 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15416364-18231275)x1 copy number loss not provided [RCV001006778] Chr16:15416364..18231275 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_002474.3(MYH11):c.5195G>A (p.Arg1732His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181213] Chr16:15718415 [GRCh38]
Chr16:15812272 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5289A>G (p.Thr1763=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514477]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181442] Chr16:15718321 [GRCh38]
Chr16:15812178 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.12-13.11(chr16:14770672-16458408)x1 copy number loss not provided [RCV001006769] Chr16:14770672..16458408 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
NM_017668.3(NDE1):c.948-5747G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002559031]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182523]|not provided [RCV001593313] Chr16:15718444 [GRCh38]
Chr16:15812301 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5881C>T (p.Arg1961Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176001]|not provided [RCV003490097] Chr16:15704029 [GRCh38]
Chr16:15797886 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4150G>A (p.Ala1384Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001876053]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182105]|not specified [RCV003331066] Chr16:15724376 [GRCh38]
Chr16:15818233 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4523T>C (p.Met1508Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182120] Chr16:15721477 [GRCh38]
Chr16:15815334 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5500G>A (p.Ala1834Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002558829]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176729] Chr16:15717144 [GRCh38]
Chr16:15811001 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4566C>T (p.Asp1522=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001501680]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184245]|not provided [RCV001540276] Chr16:15721434 [GRCh38]
Chr16:15815291 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5633G>C (p.Arg1878Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184270] Chr16:15715062 [GRCh38]
Chr16:15808919 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-3864G>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177166] Chr16:15720327 [GRCh38]
Chr16:15814184 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5670G>A (p.Glu1890=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001504833]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177362] Chr16:15715025 [GRCh38]
Chr16:15808882 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5356G>A (p.Ala1786Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001231149]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184807] Chr16:15717288 [GRCh38]
Chr16:15811145 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5489_5497del (p.Val1830_Gln1832del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001184808] Chr16:15717147..15717155 [GRCh38]
Chr16:15811004..15811012 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4849G>A (p.Ala1617Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177911] Chr16:15720255 [GRCh38]
Chr16:15814112 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.214C>T (p.Arg72Cys) single nucleotide variant Lissencephaly 4 [RCV000985039] Chr16:15667416 [GRCh38]
Chr16:15761273 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5435T>C (p.Phe1812Ser) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003777077]|Inborn genetic diseases [RCV003268697] Chr16:15717209 [GRCh38]
Chr16:15811066 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001027837]|Aortic aneurysm, familial thoracic 4 [RCV003224501]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181543]|not provided [RCV000996215]|not specified [RCV001174783] Chr16:15704041 [GRCh38]
Chr16:15797898 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5083-1G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002259375]|not provided [RCV000996216] Chr16:15719309 [GRCh38]
Chr16:15813166 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.11(chr16:14927709-16367932)x3 copy number gain not provided [RCV000996424] Chr16:14927709..16367932 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5370C>G (p.Leu1790=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182543]|not provided [RCV001702885] Chr16:15717274 [GRCh38]
Chr16:15811131 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4800G>T (p.Glu1600Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001175774] Chr16:15720304 [GRCh38]
Chr16:15814161 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4358T>G (p.Phe1453Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183127] Chr16:15724168 [GRCh38]
Chr16:15818025 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5574G>A (p.Val1858=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002068153]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175874] Chr16:15715203 [GRCh38]
Chr16:15809060 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.4412G>A (p.Arg1471Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001175997] Chr16:15721588 [GRCh38]
Chr16:15815445 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5392C>A (p.Arg1798=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183648]|not provided [RCV001655695] Chr16:15717252 [GRCh38]
Chr16:15811109 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4011G>C (p.Lys1337Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002555457]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176397]|not provided [RCV001576726] Chr16:15724752 [GRCh38]
Chr16:15818609 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3879A>G (p.Thr1293=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001463454]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183783] Chr16:15724972 [GRCh38]
Chr16:15818829 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5224G>C (p.Glu1742Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002559696]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176554] Chr16:15718386 [GRCh38]
Chr16:15812243 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4511G>A (p.Arg1504Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002558848]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177360] Chr16:15721489 [GRCh38]
Chr16:15815346 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-3869G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002558854]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177504] Chr16:15720322 [GRCh38]
Chr16:15814179 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4773G>C (p.Arg1591Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001526121]|not provided [RCV001092818] Chr16:15720857 [GRCh38]
Chr16:15814714 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[1] (p.1741LEEE[1]) microsatellite Aortic aneurysm, familial thoracic 4 [RCV003629173]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185209]|not provided [RCV003132254] Chr16:15718365..15718376 [GRCh38]
Chr16:15812222..15812233 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1509A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001116530]|Lissencephaly 4 [RCV001116531] Chr16:15725760 [GRCh38]
Chr16:15819617 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4184A>G (p.Lys1395Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629161]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180879] Chr16:15724342 [GRCh38]
Chr16:15818199 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1952A>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001119519]|Lissencephaly 4 [RCV001119520] Chr16:15726203 [GRCh38]
Chr16:15820060 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4158_4159delinsTA (p.Val1387Met) indel Familial thoracic aortic aneurysm and aortic dissection [RCV001180763] Chr16:15724367..15724368 [GRCh38]
Chr16:15818224..15818225 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-3625T>C single nucleotide variant not provided [RCV001566132] Chr16:15720566 [GRCh38]
Chr16:15814423 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4590G>A (p.Leu1530=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514508]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528312]|not provided [RCV001559967] Chr16:15721040 [GRCh38]
Chr16:15814897 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.237+192dup duplication not provided [RCV001684546] Chr16:15667627..15667628 [GRCh38]
Chr16:15761484..15761485 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.948-5041G>A single nucleotide variant not provided [RCV001596447] Chr16:15719150 [GRCh38]
Chr16:15813007 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.386+145G>A single nucleotide variant not provided [RCV001721992] Chr16:15678094 [GRCh38]
Chr16:15771951 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.387-40G>C single nucleotide variant not provided [RCV001593361] Chr16:15687335 [GRCh38]
Chr16:15781192 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.947+12102_947+12106del deletion not provided [RCV001534486] Chr16:15708958..15708962 [GRCh38]
Chr16:15802815..15802819 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.796-77G>A single nucleotide variant not provided [RCV001598578] Chr16:15696632 [GRCh38]
Chr16:15790489 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-3589dup duplication not provided [RCV001561502] Chr16:15720587..15720588 [GRCh38]
Chr16:15814444..15814445 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-3440C>T single nucleotide variant not provided [RCV001569437] Chr16:15720751 [GRCh38]
Chr16:15814608 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4844C>T (p.Ala1615Val) single nucleotide variant not provided [RCV001576969] Chr16:15720260 [GRCh38]
Chr16:15814117 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu) insertion Aortic aneurysm, familial thoracic 4 [RCV002501957]|Familial thoracic aortic aneurysm and aortic dissection [RCV002359199]|not provided [RCV001592030] Chr16:15704121..15704122 [GRCh38]
Chr16:15797978..15797979 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4949T>C (p.Leu1650Pro) single nucleotide variant not provided [RCV001569813] Chr16:15720155 [GRCh38]
Chr16:15814012 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.83+210del deletion not provided [RCV001562506] Chr16:15665060 [GRCh38]
Chr16:15758917 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.-43-280A>G single nucleotide variant not provided [RCV001614018] Chr16:15664456 [GRCh38]
Chr16:15758313 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.-43-64dup duplication not provided [RCV001551719] Chr16:15664657..15664658 [GRCh38]
Chr16:15758514..15758515 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4090C>T (p.Arg1364Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002501961]|Aortic aneurysm, familial thoracic 4 [RCV002579491]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150449]|not provided [RCV001590444] Chr16:15724673 [GRCh38]
Chr16:15818530 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.387-60C>T single nucleotide variant not provided [RCV001578148] Chr16:15687315 [GRCh38]
Chr16:15781172 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.947+12145C>T single nucleotide variant not provided [RCV001552457] Chr16:15709005 [GRCh38]
Chr16:15802862 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5766C>T (p.Asn1922=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000963567]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181799]|not provided [RCV001200403]|not specified [RCV001585889] Chr16:15714929 [GRCh38]
Chr16:15808786 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.633C>T (p.Ser211=) single nucleotide variant not provided [RCV000930233] Chr16:15691253 [GRCh38]
Chr16:15785110 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.768T>C (p.Ile256=) single nucleotide variant not provided [RCV000931276] Chr16:15694229 [GRCh38]
Chr16:15788086 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4059C>T (p.Asp1353=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001434957]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177502] Chr16:15724704 [GRCh38]
Chr16:15818561 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.*1366C>T single nucleotide variant Lissencephaly 4 [RCV001121424] Chr16:15725617 [GRCh38]
Chr16:15819474 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5252A>T (p.Asn1751Ile) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001225782] Chr16:15718358 [GRCh38]
Chr16:15812215 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4661_4681del (p.Glu1554_Asp1560del) deletion Aortic aneurysm, familial thoracic 4 [RCV001068472] Chr16:15720949..15720969 [GRCh38]
Chr16:15814806..15814826 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4479A>C (p.Glu1493Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002560806]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180761] Chr16:15721521 [GRCh38]
Chr16:15815378 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5406C>T (p.His1802=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001399370]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186945] Chr16:15717238 [GRCh38]
Chr16:15811095 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4669G>A (p.Ala1557Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002558919]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179714]|not provided [RCV003225152] Chr16:15720961 [GRCh38]
Chr16:15814818 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5683C>A (p.Arg1895Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179762] Chr16:15715012 [GRCh38]
Chr16:15808869 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4241_4242delinsTG (p.Ala1414Val) indel Aortic aneurysm, familial thoracic 4 [RCV001863046]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192060] Chr16:15724284..15724285 [GRCh38]
Chr16:15818141..15818142 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5789G>A (p.Arg1930Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001192145]|not provided [RCV002291730] Chr16:15704121 [GRCh38]
Chr16:15797978 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5161C>A (p.Leu1721Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002559211]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192306] Chr16:15719230 [GRCh38]
Chr16:15813087 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4798G>A (p.Glu1600Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001175669] Chr16:15720306 [GRCh38]
Chr16:15814163 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4926A>G (p.Glu1642=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179945] Chr16:15720178 [GRCh38]
Chr16:15814035 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5488G>A (p.Val1830Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179968]|not provided [RCV001776129]|not specified [RCV001375554] Chr16:15717156 [GRCh38]
Chr16:15811013 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+11996G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002068265]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180086] Chr16:15708856 [GRCh38]
Chr16:15802713 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.992C>T (p.Ser331Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180104] Chr16:15724235 [GRCh38]
Chr16:15818092 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3986G>A (p.Arg1329Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002560908]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187390]|not provided [RCV001571469] Chr16:15724777 [GRCh38]
Chr16:15818634 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5200C>G (p.Leu1734Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180168]|Inborn genetic diseases [RCV002558940] Chr16:15718410 [GRCh38]
Chr16:15812267 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5615C>T (p.Ala1872Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183143] Chr16:15715080 [GRCh38]
Chr16:15808937 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3959C>G (p.Thr1320Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183342]|not provided [RCV003129726] Chr16:15724892 [GRCh38]
Chr16:15818749 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4668A>G (p.Gln1556=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176267] Chr16:15720962 [GRCh38]
Chr16:15814819 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.957G>A (p.Thr319=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001480889]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180349] Chr16:15724200 [GRCh38]
Chr16:15818057 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4896G>C (p.Gln1632His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001170803] Chr16:15720208 [GRCh38]
Chr16:15814065 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15154115-16276115) copy number loss Rubinstein-Taybi syndrome due to 16p13.3 microdeletion [RCV001249391] Chr16:15154115..16276115 [GRCh37]
Chr16:16p13.11		 not provided
NM_002474.3(MYH11):c.5337G>A (p.Thr1779=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001188564] Chr16:15717307 [GRCh38]
Chr16:15811164 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3906G>A (p.Lys1302=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002069048]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188823] Chr16:15724945 [GRCh38]
Chr16:15818802 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4059C>A (p.Asp1353Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001239868]|not provided [RCV001576937] Chr16:15724704 [GRCh38]
Chr16:15818561 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5644C>T (p.Leu1882Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189014] Chr16:15715051 [GRCh38]
Chr16:15808908 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4431A>C (p.Glu1477Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189105] Chr16:15721569 [GRCh38]
Chr16:15815426 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4541A>T (p.Glu1514Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189253] Chr16:15721459 [GRCh38]
Chr16:15815316 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5349T>A (p.Asn1783Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176662] Chr16:15717295 [GRCh38]
Chr16:15811152 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5125G>A (p.Glu1709Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002480611]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184428] Chr16:15719266 [GRCh38]
Chr16:15813123 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001143979.1(NDE1):c.-765C>T single nucleotide variant Lissencephaly 4 [RCV001115706] Chr16:15643328 [GRCh38]
Chr16:15737185 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6693A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001115992] Chr16:15703553 [GRCh38]
Chr16:15797410 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4707G>A (p.Met1569Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177284] Chr16:15720923 [GRCh38]
Chr16:15814780 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*561T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514481]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184702] Chr16:15724812 [GRCh38]
Chr16:15818669 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5298C>T (p.Ala1766=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001392574]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189777] Chr16:15717346 [GRCh38]
Chr16:15811203 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5278C>A (p.Arg1760Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180940] Chr16:15718332 [GRCh38]
Chr16:15812189 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5397C>T (p.Ser1799=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177991] Chr16:15717247 [GRCh38]
Chr16:15811104 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5256G>A (p.Met1752Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189850] Chr16:15718354 [GRCh38]
Chr16:15812211 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5528C>G (p.Ser1843Trp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001328954]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190067] Chr16:15715249 [GRCh38]
Chr16:15809106 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4253T>A (p.Leu1418Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001224379]|Familial thoracic aortic aneurysm and aortic dissection [RCV003373055] Chr16:15724273 [GRCh38]
Chr16:15818130 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4709A>C (p.Gln1570Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178231] Chr16:15720921 [GRCh38]
Chr16:15814778 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4850C>T (p.Ala1617Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001219737]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185699] Chr16:15720254 [GRCh38]
Chr16:15814111 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5340C>T (p.Ala1780=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190292] Chr16:15717304 [GRCh38]
Chr16:15811161 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4037A>G (p.Asn1346Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182588] Chr16:15724726 [GRCh38]
Chr16:15818583 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5833C>T (p.Arg1945Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178658]|not provided [RCV002280162] Chr16:15704077 [GRCh38]
Chr16:15797934 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-5750_948-5749delinsAC indel Aortic aneurysm, familial thoracic 4 [RCV003514483]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185934] Chr16:15718441..15718442 [GRCh38]
Chr16:15812298..15812299 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3873C>G (p.Ser1291Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001240491]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190799]|not provided [RCV001760144] Chr16:15724978 [GRCh38]
Chr16:15818835 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5269G>T (p.Asp1757Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190822] Chr16:15718341 [GRCh38]
Chr16:15812198 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4728C>A (p.Phe1576Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190836] Chr16:15720902 [GRCh38]
Chr16:15814759 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5836T>A (p.Ter1946Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190973] Chr16:15708813 [GRCh38]
Chr16:15802670 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5863G>A (p.Glu1955Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190978] Chr16:15704047 [GRCh38]
Chr16:15797904 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4890G>C (p.Glu1630Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001863027]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190987] Chr16:15720214 [GRCh38]
Chr16:15814071 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4578C>T (p.Asn1526=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001876093]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183253] Chr16:15721422 [GRCh38]
Chr16:15815279 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.948-9105C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001474519]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183515] Chr16:15715086 [GRCh38]
Chr16:15808943 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5128A>G (p.Lys1710Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001343107]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181792]|not provided [RCV003129725] Chr16:15719263 [GRCh38]
Chr16:15813120 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4924G>A (p.Glu1642Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183859] Chr16:15720180 [GRCh38]
Chr16:15814037 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5627A>G (p.Asn1876Ser) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001045607]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348372] Chr16:15715068 [GRCh38]
Chr16:15808925 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-36C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514476]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180989] Chr16:15724155 [GRCh38]
Chr16:15818012 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4203C>G (p.Ile1401Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186199] Chr16:15724323 [GRCh38]
Chr16:15818180 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3963+2T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514489]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191009] Chr16:15724886 [GRCh38]
Chr16:15818743 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
NM_002474.3(MYH11):c.5479G>A (p.Glu1827Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184271] Chr16:15717165 [GRCh38]
Chr16:15811022 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5772C>T (p.Leu1924=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186435] Chr16:15714923 [GRCh38]
Chr16:15808780 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.*755G>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629158]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179171] Chr16:15725006 [GRCh38]
Chr16:15818863 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5412G>A (p.Met1804Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186505] Chr16:15717232 [GRCh38]
Chr16:15811089 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+11988_947+11991del deletion Aortic aneurysm, familial thoracic 4 [RCV003629176]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186377] Chr16:15708847..15708850 [GRCh38]
Chr16:15802704..15802707 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5099A>T (p.Glu1700Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179242] Chr16:15719292 [GRCh38]
Chr16:15813149 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5852C>T (p.Ala1951Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179243] Chr16:15704058 [GRCh38]
Chr16:15797915 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5260G>A (p.Ala1754Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191609] Chr16:15718350 [GRCh38]
Chr16:15812207 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4224C>T (p.Tyr1408=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001442684]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177102]|not provided [RCV001556249] Chr16:15724302 [GRCh38]
Chr16:15818159 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5089G>A (p.Ala1697Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001339254]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184507]|not specified [RCV002240784] Chr16:15719302 [GRCh38]
Chr16:15813159 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_002474.3(MYH11):c.5139G>A (p.Leu1713=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184595] Chr16:15719252 [GRCh38]
Chr16:15813109 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4758G>C (p.Gln1586His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001875934]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179349] Chr16:15720872 [GRCh38]
Chr16:15814729 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.1001C>G (p.Ser334Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179440] Chr16:15724244 [GRCh38]
Chr16:15818101 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4904C>G (p.Ser1635Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186761] Chr16:15720200 [GRCh38]
Chr16:15814057 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4187G>A (p.Arg1396Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001297581]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179562] Chr16:15724339 [GRCh38]
Chr16:15818196 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5264T>A (p.Met1755Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191873] Chr16:15718346 [GRCh38]
Chr16:15812203 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001863043]|Aortic aneurysm, familial thoracic 4 [RCV002484055]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191891]|not provided [RCV003232222] Chr16:15718322 [GRCh38]
Chr16:15812179 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+7127T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001192020] Chr16:15703987 [GRCh38]
Chr16:15797844 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4668A>C (p.Gln1556His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002560139]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192058] Chr16:15720962 [GRCh38]
Chr16:15814819 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4825C>A (p.Arg1609=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002559894]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185177]|not provided [RCV003311956] Chr16:15720279 [GRCh38]
Chr16:15814136 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4994G>A (p.Arg1665His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629175]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185434] Chr16:15719673 [GRCh38]
Chr16:15813530 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5517G>C (p.Ala1839=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV000934394] Chr16:15715260 [GRCh38]
Chr16:15809117 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.*898A>G single nucleotide variant not provided [RCV001577183] Chr16:15725149 [GRCh38]
Chr16:15819006 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.524-45C>T single nucleotide variant not provided [RCV001577401] Chr16:15691099 [GRCh38]
Chr16:15784956 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.237+195T>G single nucleotide variant not provided [RCV001719457] Chr16:15667634 [GRCh38]
Chr16:15761491 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:15509407-16309046)x3 copy number gain not provided [RCV002472724] Chr16:15509407..16309046 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.5545A>G (p.Lys1849Glu) single nucleotide variant not provided [RCV001559598] Chr16:15715232 [GRCh38]
Chr16:15809089 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-6620A>G single nucleotide variant not provided [RCV001676241] Chr16:15717571 [GRCh38]
Chr16:15811428 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:15481748-16330672)x1 copy number loss not provided [RCV002472866] Chr16:15481748..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15476224-16330672)x1 copy number loss not provided [RCV002472633] Chr16:15476224..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_017668.3(NDE1):c.947+7298G>T single nucleotide variant not provided [RCV001566046] Chr16:15704158 [GRCh38]
Chr16:15798015 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-5694C>A single nucleotide variant not provided [RCV001555828] Chr16:15718497 [GRCh38]
Chr16:15812354 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.12-12.3(chr16:14365745-17052798)x3 copy number gain not provided [RCV002473916] Chr16:14365745..17052798 [GRCh37]
Chr16:16p13.12-12.3		 likely pathogenic
NM_017668.3(NDE1):c.237+191_237+192dup duplication not provided [RCV001723173] Chr16:15667627..15667628 [GRCh38]
Chr16:15761484..15761485 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.795+98_795+107del deletion not provided [RCV001592278] Chr16:15694354..15694363 [GRCh38]
Chr16:15788211..15788220 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.796-318A>C single nucleotide variant not provided [RCV001653003] Chr16:15696391 [GRCh38]
Chr16:15790248 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.796-319_796-318insC insertion not provided [RCV001639432] Chr16:15696390..15696391 [GRCh38]
Chr16:15790247..15790248 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.237+103C>G single nucleotide variant not provided [RCV001719319] Chr16:15667542 [GRCh38]
Chr16:15761399 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.237+193G>T single nucleotide variant not provided [RCV001721978] Chr16:15667632 [GRCh38]
Chr16:15761489 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.796-312dup duplication not provided [RCV001599009] Chr16:15696386..15696387 [GRCh38]
Chr16:15790243..15790244 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.947+7073dup duplication not provided [RCV001716226] Chr16:15703925..15703926 [GRCh38]
Chr16:15797782..15797783 [GRCh37]
Chr16:16p13.11		 benign
NM_002474.3(MYH11):c.4024G>A (p.Glu1342Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183146] Chr16:15724739 [GRCh38]
Chr16:15818596 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5617G>C (p.Glu1873Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001175954] Chr16:15715078 [GRCh38]
Chr16:15808935 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3892G>A (p.Glu1298Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002491495]|Aortic aneurysm, familial thoracic 4 [RCV002558799]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175965] Chr16:15724959 [GRCh38]
Chr16:15818816 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5551C>G (p.Leu1851Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183371] Chr16:15715226 [GRCh38]
Chr16:15809083 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5118G>T (p.Ala1706=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001411262]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183614] Chr16:15719273 [GRCh38]
Chr16:15813130 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5580C>T (p.Asp1860=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001431338]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176543]|not specified [RCV003387970] Chr16:15715197 [GRCh38]
Chr16:15809054 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_002474.3(MYH11):c.5491G>A (p.Glu1831Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002555462]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176739]|not provided [RCV003442221] Chr16:15717153 [GRCh38]
Chr16:15811010 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4486T>G (p.Leu1496Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184679] Chr16:15721514 [GRCh38]
Chr16:15815371 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4514C>T (p.Thr1505Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180413] Chr16:15721486 [GRCh38]
Chr16:15815343 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5634G>A (p.Arg1878=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180465] Chr16:15715061 [GRCh38]
Chr16:15808918 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5850T>C (p.Asn1950=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180470] Chr16:15704060 [GRCh38]
Chr16:15797917 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4375G>A (p.Glu1459Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177519] Chr16:15721625 [GRCh38]
Chr16:15815482 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5490C>T (p.Val1830=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001478532]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184899] Chr16:15717154 [GRCh38]
Chr16:15811011 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5484G>A (p.Glu1828=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002067952]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184951] Chr16:15717160 [GRCh38]
Chr16:15811017 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5163G>T (p.Leu1721=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001503598]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187881]|not provided [RCV003737024] Chr16:15719228 [GRCh38]
Chr16:15813085 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4674G>T (p.Thr1558=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001188052] Chr16:15720956 [GRCh38]
Chr16:15814813 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5392C>T (p.Arg1798Trp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001048937]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176831]|Small cervical vertebral bodies [RCV002509598]|not provided [RCV003233940] Chr16:15717252 [GRCh38]
Chr16:15811109 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-5742G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629154]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177896] Chr16:15718449 [GRCh38]
Chr16:15812306 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4713G>C (p.Ala1571=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002068410]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185357] Chr16:15720917 [GRCh38]
Chr16:15814774 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:14900072-16837613)x3 copy number gain not provided [RCV001006773] Chr16:14900072..16837613 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14900182-16529801)x3 copy number gain not provided [RCV001006775] Chr16:14900182..16529801 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.4369T>C (p.Leu1457=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001188542] Chr16:15721631 [GRCh38]
Chr16:15815488 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4786A>G (p.Arg1596Gly) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001859133]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188780] Chr16:15720844 [GRCh38]
Chr16:15814701 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15481920-16516109)x3 copy number gain not provided [RCV001006780] Chr16:15481920..16516109 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.4943G>A (p.Arg1648His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629178]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189257] Chr16:15720161 [GRCh38]
Chr16:15814018 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5224GAG[2] (p.Glu1744del) microsatellite Aortic aneurysm, familial thoracic 4 [RCV001859136]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189447] Chr16:15718378..15718380 [GRCh38]
Chr16:15812235..15812237 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002505760]|Aortic aneurysm, familial thoracic 4 [RCV002555494]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178733]|MYH11-related condition [RCV003425979]|not provided [RCV001574594] Chr16:15721573 [GRCh38]
Chr16:15815430 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4129AAG[2] (p.Lys1379del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV001186027] Chr16:15724389..15724391 [GRCh38]
Chr16:15818246..15818248 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4651C>T (p.Leu1551=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178756] Chr16:15720979 [GRCh38]
Chr16:15814836 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4510C>T (p.Arg1504Trp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002555475]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177648]|Inborn genetic diseases [RCV002559730] Chr16:15721490 [GRCh38]
Chr16:15815347 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5150T>C (p.Leu1717Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184949] Chr16:15719241 [GRCh38]
Chr16:15813098 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5179C>T (p.Leu1727Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184954] Chr16:15718431 [GRCh38]
Chr16:15812288 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3885G>T (p.Met1295Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189505] Chr16:15724966 [GRCh38]
Chr16:15818823 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4579G>T (p.Val1527Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189579] Chr16:15721051 [GRCh38]
Chr16:15814908 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5118G>A (p.Ala1706=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001456323]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189623] Chr16:15719273 [GRCh38]
Chr16:15813130 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5209C>T (p.Arg1737Trp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001863002]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189695] Chr16:15718401 [GRCh38]
Chr16:15812258 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5374C>T (p.Arg1792Trp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002560060]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189756]|Inborn genetic diseases [RCV002560061] Chr16:15717270 [GRCh38]
Chr16:15811127 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.184A>G (p.Arg62Gly) single nucleotide variant Lissencephaly 4 [RCV001118861] Chr16:15667386 [GRCh38]
Chr16:15761243 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4480G>C (p.Glu1494Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186095] Chr16:15721520 [GRCh38]
Chr16:15815377 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5404_5406del (p.His1802del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001186138] Chr16:15717238..15717240 [GRCh38]
Chr16:15811095..15811097 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5220G>T (p.Gln1740His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178899] Chr16:15718390 [GRCh38]
Chr16:15812247 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4146C>T (p.Asp1382=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002560070]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190026] Chr16:15724380 [GRCh38]
Chr16:15818237 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4021C>T (p.Leu1341=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190043] Chr16:15724742 [GRCh38]
Chr16:15818599 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.814G>A (p.Ala272Thr) single nucleotide variant Lissencephaly 4 [RCV001118947] Chr16:15696727 [GRCh38]
Chr16:15790584 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+7276A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001119046] Chr16:15704136 [GRCh38]
Chr16:15797993 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5808C>T (p.Phe1936=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186271] Chr16:15704102 [GRCh38]
Chr16:15797959 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5748C>G (p.Ala1916=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186278] Chr16:15714947 [GRCh38]
Chr16:15808804 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5255T>C (p.Met1752Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186372] Chr16:15718355 [GRCh38]
Chr16:15812212 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4114C>A (p.Gln1372Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186380] Chr16:15724649 [GRCh38]
Chr16:15818506 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5811G>C (p.Gly1937=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002069123]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190592]|not provided [RCV001579752] Chr16:15708838 [GRCh38]
Chr16:15802695 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5092_5093delinsAG (p.Ala1698Ser) indel Familial thoracic aortic aneurysm and aortic dissection [RCV001184353]|not provided [RCV003132253] Chr16:15719298..15719299 [GRCh38]
Chr16:15813155..15813156 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1060A>G single nucleotide variant Lissencephaly 4 [RCV001119433] Chr16:15725311 [GRCh38]
Chr16:15819168 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1211A>T single nucleotide variant Lissencephaly 4 [RCV001119437] Chr16:15725462 [GRCh38]
Chr16:15819319 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+7270G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181214] Chr16:15704130 [GRCh38]
Chr16:15797987 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5496G>C (p.Gln1832His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002491494]|Aortic aneurysm, familial thoracic 4 [RCV003629150]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175730] Chr16:15717148 [GRCh38]
Chr16:15811005 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.998G>C (p.Ser333Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001304159]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176105] Chr16:15724241 [GRCh38]
Chr16:15818098 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4407T>A (p.Asp1469Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629180]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190767] Chr16:15721593 [GRCh38]
Chr16:15815450 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5553G>A (p.Leu1851=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002069130]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190804] Chr16:15715224 [GRCh38]
Chr16:15809081 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4935G>A (p.Lys1645=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629181]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190838] Chr16:15720169 [GRCh38]
Chr16:15814026 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5584C>T (p.Arg1862Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002497669]|Aortic aneurysm, familial thoracic 4 [RCV002559185]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191151] Chr16:15715193 [GRCh38]
Chr16:15809050 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001240359]|Aortic aneurysm, familial thoracic 4 [RCV002484046]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191153] Chr16:15714981 [GRCh38]
Chr16:15808838 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+7128T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191202] Chr16:15703988 [GRCh38]
Chr16:15797845 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5491G>C (p.Glu1831Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181404]|Inborn genetic diseases [RCV003163419] Chr16:15717153 [GRCh38]
Chr16:15811010 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3934T>C (p.Ser1312Pro) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002559109]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186575] Chr16:15724917 [GRCh38]
Chr16:15818774 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4200G>T (p.Glu1400Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001371300]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179353]|not specified [RCV001527025] Chr16:15724326 [GRCh38]
Chr16:15818183 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4176G>A (p.Glu1392=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002559764]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179360] Chr16:15724350 [GRCh38]
Chr16:15818207 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4000G>A (p.Val1334Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179413]|not specified [RCV001823758] Chr16:15724763 [GRCh38]
Chr16:15818620 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6522G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001120917] Chr16:15703382 [GRCh38]
Chr16:15797239 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5812C>T (p.Pro1938Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183603] Chr16:15708837 [GRCh38]
Chr16:15802694 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5572G>T (p.Val1858Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191209] Chr16:15715205 [GRCh38]
Chr16:15809062 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.968G>C (p.Trp323Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191230] Chr16:15724211 [GRCh38]
Chr16:15818068 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-5743G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002069151]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191401] Chr16:15718448 [GRCh38]
Chr16:15812305 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5155A>C (p.Ser1719Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001121133] Chr16:15719236 [GRCh38]
Chr16:15813093 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5404C>T (p.His1802Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001875939]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179503] Chr16:15717240 [GRCh38]
Chr16:15811097 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4536A>C (p.Glu1512Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186789] Chr16:15721464 [GRCh38]
Chr16:15815321 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1305C>A single nucleotide variant Lissencephaly 4 [RCV001121423] Chr16:15725556 [GRCh38]
Chr16:15819413 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5565G>A (p.Leu1855=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179984] Chr16:15715212 [GRCh38]
Chr16:15809069 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4476T>C (p.Leu1492=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187259] Chr16:15721524 [GRCh38]
Chr16:15815381 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5317C>T (p.Leu1773=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002068266]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180088]|not provided [RCV002264212] Chr16:15717327 [GRCh38]
Chr16:15811184 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5346G>A (p.Lys1782=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001446550]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191707] Chr16:15717298 [GRCh38]
Chr16:15811155 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001040113.2(MYH11):c.5813C>T (p.Pro1938Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514473]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179563] Chr16:15708836 [GRCh38]
Chr16:15802693 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5833C>T (p.Gln1945Ter) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002480604]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179567] Chr16:15708816 [GRCh38]
Chr16:15802673 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5468T>C (p.Ile1823Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002558914]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179601] Chr16:15717176 [GRCh38]
Chr16:15811033 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4728C>T (p.Phe1576=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002559030]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182513] Chr16:15720902 [GRCh38]
Chr16:15814759 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4685A>G (p.Lys1562Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514479]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183931] Chr16:15720945 [GRCh38]
Chr16:15814802 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5394G>A (p.Arg1798=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179726] Chr16:15717250 [GRCh38]
Chr16:15811107 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4729G>A (p.Glu1577Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001359634]|Aortic aneurysm, familial thoracic 4 [RCV002491555]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187022] Chr16:15720901 [GRCh38]
Chr16:15814758 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.978A>T (p.Lys326Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001175731] Chr16:15724221 [GRCh38]
Chr16:15818078 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3928G>T (p.Val1310Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176152] Chr16:15724923 [GRCh38]
Chr16:15818780 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.993G>C (p.Ser331=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183513] Chr16:15724236 [GRCh38]
Chr16:15818093 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4991C>T (p.Ala1664Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176225] Chr16:15719676 [GRCh38]
Chr16:15813533 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4042C>T (p.Leu1348=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187203] Chr16:15724721 [GRCh38]
Chr16:15818578 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-2548C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187211] Chr16:15721643 [GRCh38]
Chr16:15815500 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5357C>T (p.Ala1786Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001206667]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183794] Chr16:15717287 [GRCh38]
Chr16:15811144 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4000G>T (p.Val1334Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629160]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180193] Chr16:15724763 [GRCh38]
Chr16:15818620 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-7057G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002560833]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182840]|Familial thoracic aortic aneurysm and aortic dissection [RCV003227923]|not specified [RCV001732065] Chr16:15717134 [GRCh38]
Chr16:15810991 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance|not provided
NM_017668.3(NDE1):c.965G>T (p.Arg322Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187480] Chr16:15724208 [GRCh38]
Chr16:15818065 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.975C>T (p.Ser325=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002559978]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187497] Chr16:15724218 [GRCh38]
Chr16:15818075 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
GRCh37/hg19 16p13.11(chr16:14975292-16291099)x3 copy number gain See cases [RCV001194544] Chr16:14975292..16291099 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_017668.3(NDE1):c.524-98G>A single nucleotide variant not provided [RCV001725780] Chr16:15691046 [GRCh38]
Chr16:15784903 [GRCh37]
Chr16:16p13.11		 benign
NM_002474.3(MYH11):c.5692G>A (p.Ala1898Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001337726]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181497] Chr16:15715003 [GRCh38]
Chr16:15808860 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+7130C>G single nucleotide variant not provided [RCV001650001] Chr16:15703990 [GRCh38]
Chr16:15797847 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3865G>C (p.Val1289Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629164]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181712] Chr16:15724986 [GRCh38]
Chr16:15818843 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6827G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001117447] Chr16:15703687 [GRCh38]
Chr16:15797544 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4873G>C (p.Asp1625His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001117662] Chr16:15720231 [GRCh38]
Chr16:15814088 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6521C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001120916] Chr16:15703381 [GRCh38]
Chr16:15797238 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3983C>A (p.Thr1328Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001171278] Chr16:15724780 [GRCh38]
Chr16:15818637 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1064T>A single nucleotide variant Lissencephaly 4 [RCV001119434] Chr16:15725315 [GRCh38]
Chr16:15819172 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5114A>C (p.Gln1705Pro) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001220405]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526198] Chr16:15719277 [GRCh38]
Chr16:15813134 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1850G>A single nucleotide variant Lissencephaly 4 [RCV001119518] Chr16:15726101 [GRCh38]
Chr16:15819958 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4128G>A (p.Ser1376=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181584] Chr16:15724398 [GRCh38]
Chr16:15818255 [GRCh37]
Chr16:16p13.11		 likely benign
NC_000016.10:g.(?_15586717)_(15838252_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV001032927] Chr16:15680574..15932109 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5430C>T (p.Ser1810=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001408167]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182294] Chr16:15717214 [GRCh38]
Chr16:15811071 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4753G>A (p.Glu1585Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183866] Chr16:15720877 [GRCh38]
Chr16:15814734 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1383G>A single nucleotide variant Lissencephaly 4 [RCV001121425] Chr16:15725634 [GRCh38]
Chr16:15819491 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4879A>G (p.Lys1627Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001216907] Chr16:15720225 [GRCh38]
Chr16:15814082 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.984A>G (p.Thr328=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181977]|not specified [RCV001293588] Chr16:15724227 [GRCh38]
Chr16:15818084 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.12-13.11(chr16:14780543-16391045)x1 copy number loss not provided [RCV001006770] Chr16:14780543..16391045 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1 copy number loss 16p13.11 microdeletion syndrome [RCV001824940]|not provided [RCV001249387] Chr16:15494600..18141051 [GRCh37]
Chr16:16p13.11-12.3		 no classifications from unflagged records|not provided
NM_002474.3(MYH11):c.5912G>C (p.Ser1971Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182424] Chr16:15703998 [GRCh38]
Chr16:15797855 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4518C>T (p.Asn1506=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182875] Chr16:15721482 [GRCh38]
Chr16:15815339 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.*1786G>T single nucleotide variant Lissencephaly 4 [RCV001117987] Chr16:15726037 [GRCh38]
Chr16:15819894 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.*1842A>G single nucleotide variant Lissencephaly 4 [RCV001117990] Chr16:15726093 [GRCh38]
Chr16:15819950 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5460G>A (p.Glu1820=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183774] Chr16:15717184 [GRCh38]
Chr16:15811041 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001876118]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183828]|not provided [RCV002559051] Chr16:15714958 [GRCh38]
Chr16:15808815 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4690C>A (p.Arg1564=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002560848]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183860] Chr16:15720940 [GRCh38]
Chr16:15814797 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-9288C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001212242]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176586] Chr16:15714903 [GRCh38]
Chr16:15808760 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5864A>T (p.Glu1955Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184147] Chr16:15704046 [GRCh38]
Chr16:15797903 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4122C>T (p.Ser1374=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001493012]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185011] Chr16:15724404 [GRCh38]
Chr16:15818261 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5758G>A (p.Glu1920Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514482]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185377]|not provided [RCV002462348] Chr16:15714937 [GRCh38]
Chr16:15808794 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5205G>T (p.Glu1735Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178136] Chr16:15718405 [GRCh38]
Chr16:15812262 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5825C>T (p.Ser1942Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185634] Chr16:15704085 [GRCh38]
Chr16:15797942 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.524-6G>A single nucleotide variant Lissencephaly 4 [RCV001115884] Chr16:15691138 [GRCh38]
Chr16:15784995 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+6757G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001115995] Chr16:15703617 [GRCh38]
Chr16:15797474 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4358T>C (p.Phe1453Ser) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001062731]|Aortic aneurysm, familial thoracic 4 [RCV002482065] Chr16:15724168 [GRCh38]
Chr16:15818025 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5010G>C (p.Glu1670Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001116217]|Lissencephaly 4 [RCV001116218] Chr16:15719657 [GRCh38]
Chr16:15813514 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-4052A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001116219] Chr16:15720139 [GRCh38]
Chr16:15813996 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_017668.3(NDE1):c.962dup (p.Cys321fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV001180716] Chr16:15724204..15724205 [GRCh38]
Chr16:15818061..15818062 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5462_5482del (p.Ala1821_Glu1827del) deletion Aortic aneurysm, familial thoracic 4 [RCV001063447] Chr16:15717162..15717182 [GRCh38]
Chr16:15811019..15811039 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4761T>G (p.Asn1587Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001063777] Chr16:15720869 [GRCh38]
Chr16:15814726 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5009A>C (p.Glu1670Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001214241] Chr16:15719658 [GRCh38]
Chr16:15813515 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15124782-16291779)x1 copy number loss not provided [RCV001537888] Chr16:15124782..16291779 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14887031-16308753)x3 copy number gain not provided [RCV001537889] Chr16:14887031..16308753 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.4121C>T (p.Ser1374Phe) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001253078] Chr16:15724405 [GRCh38]
Chr16:15818262 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_017668.3(NDE1):c.182A>G (p.Asn61Ser) single nucleotide variant Intellectual disability [RCV001252591]|not provided [RCV001879860] Chr16:15667384 [GRCh38]
Chr16:15761241 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
GRCh37/hg19 16p13.11(chr16:15737239-15820210) copy number loss Intellectual disability [RCV001261859] Chr16:15737239..15820210 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15417030-16544419)x3 copy number gain not provided [RCV001259250] Chr16:15417030..16544419 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15127985-16527476)x3 copy number gain not provided [RCV001259251] Chr16:15127985..16527476 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14929038-16309046)x3 copy number gain not provided [RCV001259253] Chr16:14929038..16309046 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15481920-18164698)x3 copy number gain not provided [RCV001259257] Chr16:15481920..18164698 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15375911-18198455)x1 copy number loss not provided [RCV001259258] Chr16:15375911..18198455 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15481920-16837613)x3 copy number gain not provided [RCV001259259] Chr16:15481920..16837613 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_002474.3(MYH11):c.4202T>C (p.Ile1401Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001869509]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804422] Chr16:15724324 [GRCh38]
Chr16:15818181 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4613A>C (p.Glu1538Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001258193]|not provided [RCV001751526] Chr16:15721017 [GRCh38]
Chr16:15814874 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15058820-16328840)x3 copy number gain not provided [RCV001259252] Chr16:15058820..16328840 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509824-16328781)x3 copy number gain not provided [RCV001259254] Chr16:15509824..16328781 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18770833)x3 copy number gain not provided [RCV001259255] Chr16:15193982..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18164698)x3 copy number gain not provided [RCV001259256] Chr16:15316618..18164698 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
Single allele deletion Epilepsy [RCV001293377] Chr16:14968859..16363239 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.9:g.(?_15797838)_(15932119_?)dup duplication Aortic aneurysm, familial thoracic 4 [RCV001308189] Chr16:15797838..15932119 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4237G>T (p.Ala1413Ser) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001324935]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526061]|not provided [RCV001544990] Chr16:15724289 [GRCh38]
Chr16:15818146 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15126890-16293190)x3 copy number gain Intellectual disability [RCV001293648] Chr16:15126890..16293190 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.9:g.(?_15795992)_(15951887_?)dup duplication Aortic aneurysm, familial thoracic 4 [RCV001319099] Chr16:15795992..15951887 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14968855-16251122)x1 copy number loss not provided [RCV001281366] Chr16:14968855..16251122 [GRCh37]
Chr16:16p13.11		 risk factor
NM_002474.3(MYH11):c.5683C>T (p.Arg1895Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528284]|Isolated thoracic aortic aneurysm [RCV001374828] Chr16:15715012 [GRCh38]
Chr16:15808869 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4204G>A (p.Glu1402Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001799489] Chr16:15724322 [GRCh38]
Chr16:15818179 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15758636)_(16292059_?)dup duplication not provided [RCV001351206] Chr16:15758636..16292059 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5257G>C (p.Glu1753Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001351362] Chr16:15718353 [GRCh38]
Chr16:15812210 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5785A>C (p.Arg1929=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002954120]|MYH11-related condition [RCV003898638] Chr16:15714910 [GRCh38]
Chr16:15808767 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.130C>T (p.Arg44Ter) single nucleotide variant NDE1-related condition [RCV003900546]|not specified [RCV001449830] Chr16:15667332 [GRCh38]
Chr16:15761189 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_002474.3(MYH11):c.5532G>A (p.Leu1844=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001434010] Chr16:15715245 [GRCh38]
Chr16:15809102 [GRCh37]
Chr16:16p13.11		 likely benign
Single allele duplication not provided [RCV001449859] Chr16:15802668..15932109 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4106T>G (p.Leu1369Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001309443]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322215] Chr16:15724657 [GRCh38]
Chr16:15818514 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15808760)_(15932115_?)dup duplication Aortic aneurysm, familial thoracic 4 [RCV001364819] Chr16:15808760..15932115 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4627G>A (p.Glu1543Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001369601]|Aortic aneurysm, familial thoracic 4 [RCV002476685] Chr16:15721003 [GRCh38]
Chr16:15814860 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-3465_948-3464del microsatellite not provided [RCV000834631] Chr16:15720724..15720725 [GRCh38]
Chr16:15814581..15814582 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-4460_948-4457del deletion Aortic aneurysm, familial thoracic 4 [RCV002064393]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190180]|not provided [RCV000842323]|not specified [RCV002265901] Chr16:15719728..15719731 [GRCh38]
Chr16:15813585..15813588 [GRCh37]
Chr16:16p13.11		 benign|likely benign
GRCh37/hg19 16p13.11(chr16:15048751-16292235) copy number loss Abnormality of the head [RCV001291975] Chr16:15048751..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.9:g.(?_15802662)_(15880595_?)dup duplication Aortic aneurysm, familial thoracic 4 [RCV001319100] Chr16:15802662..15880595 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5628T>A (p.Asn1876Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001314929]|Aortic aneurysm, familial thoracic 4 [RCV002504482] Chr16:15715067 [GRCh38]
Chr16:15808924 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4613A>T (p.Glu1538Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001298716] Chr16:15721017 [GRCh38]
Chr16:15814874 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+11984G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001330169] Chr16:15708844 [GRCh38]
Chr16:15802701 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+11893_947+11897del microsatellite not provided [RCV000833734] Chr16:15708748..15708752 [GRCh38]
Chr16:15802605..15802609 [GRCh37]
Chr16:16p13.11		 benign
NM_002474.3(MYH11):c.4646A>T (p.Glu1549Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001366889]|not provided [RCV002224080] Chr16:15720984 [GRCh38]
Chr16:15814841 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5520C>T (p.Ala1840=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001413286] Chr16:15715257 [GRCh38]
Chr16:15809114 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-5750G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001340985]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528289]|not provided [RCV001560479] Chr16:15718441 [GRCh38]
Chr16:15812298 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.4001T>C (p.Val1334Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001341007] Chr16:15724762 [GRCh38]
Chr16:15818619 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5820dup (p.Gln1941fs) duplication Aortic aneurysm, familial thoracic 4 [RCV001310002] Chr16:15708828..15708829 [GRCh38]
Chr16:15802685..15802686 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.4094A>G (p.His1365Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001361110]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322319] Chr16:15724669 [GRCh38]
Chr16:15818526 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4086G>A (p.Leu1362=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001395941]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322380] Chr16:15724677 [GRCh38]
Chr16:15818534 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4140G>C (p.Leu1380=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001413545]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160654] Chr16:15724386 [GRCh38]
Chr16:15818243 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4039A>G (p.Ser1347Gly) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001365639]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528293] Chr16:15724724 [GRCh38]
Chr16:15818581 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4440G>T (p.Glu1480Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001365652] Chr16:15721560 [GRCh38]
Chr16:15815417 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5890G>T (p.Asp1964Tyr) single nucleotide variant not provided [RCV001311428] Chr16:15704020 [GRCh38]
Chr16:15797877 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3878C>G (p.Thr1293Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524967] Chr16:15724973 [GRCh38]
Chr16:15818830 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4032G>A (p.Glu1344=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001435963] Chr16:15724731 [GRCh38]
Chr16:15818588 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5416G>A (p.Gly1806Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525338] Chr16:15717228 [GRCh38]
Chr16:15811085 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4819G>A (p.Asp1607Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525813] Chr16:15720285 [GRCh38]
Chr16:15814142 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5091C>T (p.Ala1697=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001425115]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528298] Chr16:15719300 [GRCh38]
Chr16:15813157 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4533C>G (p.Ala1511=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001457642] Chr16:15721467 [GRCh38]
Chr16:15815324 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4482G>A (p.Glu1494=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524036] Chr16:15721518 [GRCh38]
Chr16:15815375 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5443A>G (p.Thr1815Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002568053]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524037]|not provided [RCV001821848] Chr16:15717201 [GRCh38]
Chr16:15811058 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5124C>T (p.Leu1708=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002070297]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524041] Chr16:15719267 [GRCh38]
Chr16:15813124 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-3870G>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524070] Chr16:15720321 [GRCh38]
Chr16:15814178 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.963C>T (p.Cys321=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001475633] Chr16:15724206 [GRCh38]
Chr16:15818063 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4507G>A (p.Glu1503Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514505]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524347] Chr16:15721493 [GRCh38]
Chr16:15815350 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4968C>T (p.Asp1656=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524393] Chr16:15719699 [GRCh38]
Chr16:15813556 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4891C>T (p.Leu1631Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524853] Chr16:15720213 [GRCh38]
Chr16:15814070 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5438_5443dup (p.Lys1813_Ser1814dup) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV001524881] Chr16:15717200..15717201 [GRCh38]
Chr16:15811057..15811058 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4657G>A (p.Asp1553Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001872065]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525018] Chr16:15720973 [GRCh38]
Chr16:15814830 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3918G>T (p.Leu1306=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525177] Chr16:15724933 [GRCh38]
Chr16:15818790 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4534G>A (p.Glu1512Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003771618]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526147] Chr16:15721466 [GRCh38]
Chr16:15815323 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4734G>A (p.Arg1578=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001498559] Chr16:15720896 [GRCh38]
Chr16:15814753 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4531G>A (p.Ala1511Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001526255]|not provided [RCV003130535] Chr16:15721469 [GRCh38]
Chr16:15815326 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4701C>T (p.Val1567=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001427183] Chr16:15720929 [GRCh38]
Chr16:15814786 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4510C>A (p.Arg1504=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001467771] Chr16:15721490 [GRCh38]
Chr16:15815347 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5713C>A (p.Arg1905=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001444032]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350883] Chr16:15714982 [GRCh38]
Chr16:15808839 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4842G>A (p.Leu1614=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001444261]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528301] Chr16:15720262 [GRCh38]
Chr16:15814119 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.237+195_237+196insGT insertion not provided [RCV001533830] Chr16:15667633..15667634 [GRCh38]
Chr16:15761490..15761491 [GRCh37]
Chr16:16p13.11		 benign
NM_002474.3(MYH11):c.5064C>T (p.Asp1688=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001419895]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524098] Chr16:15719603 [GRCh38]
Chr16:15813460 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5711A>G (p.Gln1904Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001523853] Chr16:15714984 [GRCh38]
Chr16:15808841 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4220A>T (p.Gln1407Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525116] Chr16:15724306 [GRCh38]
Chr16:15818163 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-3446_948-3445insAAAAA insertion not provided [RCV001587811] Chr16:15720742..15720743 [GRCh38]
Chr16:15814599..15814600 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4602G>A (p.Lys1534=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002070326]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525819] Chr16:15721028 [GRCh38]
Chr16:15814885 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-4650G>A single nucleotide variant not provided [RCV001691318] Chr16:15719541 [GRCh38]
Chr16:15813398 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.948-7321_948-7320del microsatellite not provided [RCV001592461] Chr16:15716868..15716869 [GRCh38]
Chr16:15810725..15810726 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-2270A>G single nucleotide variant not provided [RCV001616373] Chr16:15721921 [GRCh38]
Chr16:15815778 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.83+42del deletion not provided [RCV001689499] Chr16:15664888 [GRCh38]
Chr16:15758745 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.796-238C>T single nucleotide variant not provided [RCV001585378] Chr16:15696471 [GRCh38]
Chr16:15790328 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.795+113A>C single nucleotide variant not provided [RCV001714514] Chr16:15694369 [GRCh38]
Chr16:15788226 [GRCh37]
Chr16:16p13.11		 benign
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629189]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324130]|not provided [RCV001539412]|not specified [RCV003331178] Chr16:15724691 [GRCh38]
Chr16:15818548 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.4923G>A (p.Glu1641=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001484345] Chr16:15720181 [GRCh38]
Chr16:15814038 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5724T>C (p.Asp1908=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001460190] Chr16:15714971 [GRCh38]
Chr16:15808828 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5287A>G (p.Thr1763Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525696] Chr16:15718323 [GRCh38]
Chr16:15812180 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4653G>A (p.Leu1551=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001406105]|not provided [RCV001776234] Chr16:15720977 [GRCh38]
Chr16:15814834 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4752C>T (p.Asp1584=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001406108] Chr16:15720878 [GRCh38]
Chr16:15814735 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5187C>G (p.Asp1729Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525721] Chr16:15718423 [GRCh38]
Chr16:15812280 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4990G>A (p.Ala1664Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525921] Chr16:15719677 [GRCh38]
Chr16:15813534 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5481G>A (p.Glu1827=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002568831]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525943] Chr16:15717163 [GRCh38]
Chr16:15811020 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5702G>A (p.Arg1901Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525973] Chr16:15714993 [GRCh38]
Chr16:15808850 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.993G>A (p.Ser331=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001526053] Chr16:15724236 [GRCh38]
Chr16:15818093 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4944C>T (p.Arg1648=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001440130] Chr16:15720160 [GRCh38]
Chr16:15814017 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-2779A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001483158] Chr16:15721412 [GRCh38]
Chr16:15815269 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.*162C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001465925] Chr16:15724413 [GRCh38]
Chr16:15818270 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5097T>C (p.Ala1699=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001523864] Chr16:15719294 [GRCh38]
Chr16:15813151 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5424C>G (p.Val1808=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001393263] Chr16:15717220 [GRCh38]
Chr16:15811077 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5196C>T (p.Arg1732=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629185]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524054] Chr16:15718414 [GRCh38]
Chr16:15812271 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4087G>A (p.Glu1363Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524111] Chr16:15724676 [GRCh38]
Chr16:15818533 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+11948G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524315] Chr16:15708808 [GRCh38]
Chr16:15802665 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5343GAA[1] (p.Lys1782del) microsatellite Aortic aneurysm, familial thoracic 4 [RCV002290714]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524614] Chr16:15717296..15717298 [GRCh38]
Chr16:15811153..15811155 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5619G>A (p.Glu1873=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001495026] Chr16:15715076 [GRCh38]
Chr16:15808933 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5673G>A (p.Glu1891=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001482516] Chr16:15715022 [GRCh38]
Chr16:15808879 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5616A>G (p.Ala1872=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629186]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524846] Chr16:15715079 [GRCh38]
Chr16:15808936 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.4269C>A (p.Asn1423Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003771593]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524919] Chr16:15724257 [GRCh38]
Chr16:15818114 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4951C>G (p.Gln1651Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525002] Chr16:15720153 [GRCh38]
Chr16:15814010 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3 copy number gain See cases [RCV002246173] Chr16:14886858..16328857 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.5188G>T (p.Glu1730Ter) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002250131] Chr16:15718422 [GRCh38]
Chr16:15812279 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5854G>C (p.Asp1952His) single nucleotide variant not provided [RCV001755661] Chr16:15704056 [GRCh38]
Chr16:15797913 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15375912-16390970)x1 copy number loss not provided [RCV001834196] Chr16:15375912..16390970 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5797G>A (p.Glu1933Lys) single nucleotide variant not provided [RCV001757388] Chr16:15704113 [GRCh38]
Chr16:15797970 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5759A>T (p.Glu1920Val) single nucleotide variant not provided [RCV001767943] Chr16:15714936 [GRCh38]
Chr16:15808793 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5328G>C (p.Glu1776Asp) single nucleotide variant not provided [RCV001768028] Chr16:15717316 [GRCh38]
Chr16:15811173 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.809A>G (p.Lys270Arg) single nucleotide variant Inborn genetic diseases [RCV002544122]|not provided [RCV001774434] Chr16:15696722 [GRCh38]
Chr16:15790579 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.638C>T (p.Pro213Leu) single nucleotide variant Inborn genetic diseases [RCV002544038]|not provided [RCV001772845] Chr16:15691258 [GRCh38]
Chr16:15785115 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.110G>A (p.Arg37Gln) single nucleotide variant Inborn genetic diseases [RCV002540565]|not provided [RCV001773175] Chr16:15667312 [GRCh38]
Chr16:15761169 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.700C>A (p.Arg234Ser) single nucleotide variant not provided [RCV001764946] Chr16:15691320 [GRCh38]
Chr16:15785177 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4227G>C (p.Glu1409Asp) single nucleotide variant not provided [RCV001776523] Chr16:15724299 [GRCh38]
Chr16:15818156 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15124581-16290348)x3 copy number gain not provided [RCV001795550] Chr16:15124581..16290348 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.5103G>T (p.Arg1701Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528333]|not provided [RCV001768212] Chr16:15719288 [GRCh38]
Chr16:15813145 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.101A>G (p.Glu34Gly) single nucleotide variant Inborn genetic diseases [RCV002540240]|not provided [RCV001765240] Chr16:15667303 [GRCh38]
Chr16:15761160 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4915G>C (p.Gly1639Arg) single nucleotide variant not provided [RCV001766292] Chr16:15720189 [GRCh38]
Chr16:15814046 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4699G>T (p.Val1567Phe) single nucleotide variant not provided [RCV001753303] Chr16:15720931 [GRCh38]
Chr16:15814788 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.577A>G (p.Met193Val) single nucleotide variant not provided [RCV001754256] Chr16:15691197 [GRCh38]
Chr16:15785054 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14892880-16544222) copy number gain 16p13.11 microduplication syndrome [RCV002280702] Chr16:14892880..16544222 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001040113.2(MYH11):c.5813C>G (p.Pro1938Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001868760]|not provided [RCV001755592] Chr16:15708836 [GRCh38]
Chr16:15802693 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5857G>A (p.Gly1953Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003221285] Chr16:15704053 [GRCh38]
Chr16:15797910 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4601A>C (p.Lys1534Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805278] Chr16:15721029 [GRCh38]
Chr16:15814886 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833) copy number gain Autism [RCV002280692] Chr16:15316618..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14927857-16537664) copy number gain Autism [RCV002280694] Chr16:14927857..16537664 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18191725) copy number gain Cardiomyopathy [RCV002280695] Chr16:15316618..18191725 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16494783) copy number loss 16p13.11 microdeletion syndrome [RCV002280700] Chr16:14897625..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5637C>T (p.Val1879=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629202]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799490] Chr16:15715058 [GRCh38]
Chr16:15808915 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4408G>A (p.Glu1470Lys) single nucleotide variant not provided [RCV001757373] Chr16:15721592 [GRCh38]
Chr16:15815449 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5329C>T (p.Arg1777Cys) single nucleotide variant not provided [RCV001757295] Chr16:15717315 [GRCh38]
Chr16:15811172 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4096A>T (p.Ile1366Phe) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001868813]|Aortic aneurysm, familial thoracic 4 [RCV002506816]|not provided [RCV001776862] Chr16:15724667 [GRCh38]
Chr16:15818524 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4191C>A (p.Phe1397Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804653] Chr16:15724335 [GRCh38]
Chr16:15818192 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5229G>A (p.Glu1743=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804408] Chr16:15718381 [GRCh38]
Chr16:15812238 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5407G>A (p.Glu1803Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804519] Chr16:15717237 [GRCh38]
Chr16:15811094 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3903G>A (p.Gly1301=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805270] Chr16:15724948 [GRCh38]
Chr16:15818805 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-3356G>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002542384]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804457] Chr16:15720835 [GRCh38]
Chr16:15814692 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4169T>C (p.Leu1390Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805426] Chr16:15724357 [GRCh38]
Chr16:15818214 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5487G>A (p.Gln1829=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805463] Chr16:15717157 [GRCh38]
Chr16:15811014 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4374C>G (p.Ala1458=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002542415]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805712] Chr16:15721626 [GRCh38]
Chr16:15815483 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4012C>T (p.Leu1338=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002542379]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804320] Chr16:15724751 [GRCh38]
Chr16:15818608 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4975A>G (p.Arg1659Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804621] Chr16:15719692 [GRCh38]
Chr16:15813549 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5818C>T (p.Pro1940Ser) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001869553]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805626] Chr16:15708831 [GRCh38]
Chr16:15802688 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4116+1del deletion Aortic aneurysm, familial thoracic 4 [RCV001895964] Chr16:15724646 [GRCh38]
Chr16:15818503 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5728G>A (p.Ala1910Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001970582] Chr16:15714967 [GRCh38]
Chr16:15808824 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5296G>A (p.Ala1766Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001910032] Chr16:15717348 [GRCh38]
Chr16:15811205 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4933A>C (p.Lys1645Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002009112]|Familial thoracic aortic aneurysm and aortic dissection [RCV002335021]|not provided [RCV002261437] Chr16:15720171 [GRCh38]
Chr16:15814028 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5140G>A (p.Ala1714Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001895446]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528342] Chr16:15719251 [GRCh38]
Chr16:15813108 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5641C>A (p.Gln1881Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001895578] Chr16:15715054 [GRCh38]
Chr16:15808911 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.13G>A (p.Gly5Arg) single nucleotide variant not provided [RCV002039583] Chr16:15664791 [GRCh38]
Chr16:15758648 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5734G>A (p.Glu1912Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001891959] Chr16:15714961 [GRCh38]
Chr16:15808818 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15418575-16494783)x1 copy number loss not provided [RCV001827596] Chr16:15418575..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_017668.3(NDE1):c.24C>A (p.Phe8Leu) single nucleotide variant not provided [RCV001984866] Chr16:15664802 [GRCh38]
Chr16:15758659 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.821G>C (p.Cys274Ser) single nucleotide variant not provided [RCV002040791] Chr16:15696734 [GRCh38]
Chr16:15790591 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5599C>T (p.Gln1867Ter) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001914128] Chr16:15715178 [GRCh38]
Chr16:15809035 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_017668.3(NDE1):c.659G>A (p.Arg220Gln) single nucleotide variant not provided [RCV001893774] Chr16:15691279 [GRCh38]
Chr16:15785136 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4225G>A (p.Glu1409Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002040497]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331617] Chr16:15724301 [GRCh38]
Chr16:15818158 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5619G>C (p.Glu1873Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001885371]|not provided [RCV001824517] Chr16:15715076 [GRCh38]
Chr16:15808933 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.776A>G (p.Asp259Gly) single nucleotide variant not provided [RCV002036252] Chr16:15694237 [GRCh38]
Chr16:15788094 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.524-10T>A single nucleotide variant not provided [RCV001887360] Chr16:15691134 [GRCh38]
Chr16:15784991 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.4821C>A (p.Asp1607Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002000940] Chr16:15720283 [GRCh38]
Chr16:15814140 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3963+1G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001963636] Chr16:15724887 [GRCh38]
Chr16:15818744 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NC_000016.9:g.(?_15802668)_(15917288_?)dup duplication Aortic aneurysm, familial thoracic 4 [RCV002014438] Chr16:15802668..15917288 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5278C>T (p.Arg1760Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001900650]|Aortic aneurysm, familial thoracic 4 [RCV002503450] Chr16:15718332 [GRCh38]
Chr16:15812189 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5236GAG[2] (p.Glu1748del) microsatellite Aortic aneurysm, familial thoracic 4 [RCV001936527] Chr16:15718366..15718368 [GRCh38]
Chr16:15812223..15812225 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15802658)_(15802708_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV001936864] Chr16:15802658..15802708 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5107C>T (p.Arg1703Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002543441]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334721]|not provided [RCV002034865] Chr16:15719284 [GRCh38]
Chr16:15813141 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5000C>G (p.Ser1667Cys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001902808] Chr16:15719667 [GRCh38]
Chr16:15813524 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5828C>T (p.Thr1943Ile) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001916949] Chr16:15708821 [GRCh38]
Chr16:15802678 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15802668)_(15932109_?)dup duplication Aortic aneurysm, familial thoracic 4 [RCV001875180] Chr16:15802668..15932109 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5546A>G (p.Lys1849Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002047376] Chr16:15715231 [GRCh38]
Chr16:15809088 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.947+12001C>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001972278] Chr16:15708861 [GRCh38]
Chr16:15802718 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.272G>A (p.Arg91Gln) single nucleotide variant not provided [RCV002015959] Chr16:15677835 [GRCh38]
Chr16:15771692 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15802668)_(15932109_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV001953910] Chr16:15802668..15932109 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.9:g.(?_15758636)_(17564653_?)dup duplication Desbuquois dysplasia 1 [RCV001919069]|not provided [RCV003107892] Chr16:15758636..17564653 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance|no classifications from unflagged records
NM_002474.3(MYH11):c.5777G>A (p.Ser1926Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV001989691] Chr16:15714918 [GRCh38]
Chr16:15808775 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5375G>C (p.Arg1792Pro) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002487010]|not provided [RCV002224185] Chr16:15717269 [GRCh38]
Chr16:15811126 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4512G>T (p.Arg1504=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002166448] Chr16:15721488 [GRCh38]
Chr16:15815345 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5130G>A (p.Lys1710=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002107323] Chr16:15719261 [GRCh38]
Chr16:15813118 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4377G>A (p.Glu1459=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002209298] Chr16:15721623 [GRCh38]
Chr16:15815480 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5368C>T (p.Leu1790Phe) single nucleotide variant not provided [RCV002224667] Chr16:15717276 [GRCh38]
Chr16:15811133 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4890G>A (p.Glu1630=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002192877]|Familial thoracic aortic aneurysm and aortic dissection [RCV002337215] Chr16:15720214 [GRCh38]
Chr16:15814071 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4366-1G>A single nucleotide variant not provided [RCV002224726] Chr16:15721635 [GRCh38]
Chr16:15815492 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.5875dup (p.Asp1959fs) duplication not provided [RCV002223547] Chr16:15704034..15704035 [GRCh38]
Chr16:15797891..15797892 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.972G>A (p.Leu324=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002085562]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161445] Chr16:15724215 [GRCh38]
Chr16:15818072 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-3122del deletion Aortic aneurysm, familial thoracic 4 [RCV002209285] Chr16:15721069 [GRCh38]
Chr16:15814926 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4120T>C (p.Ser1374Pro) single nucleotide variant not provided [RCV002223501] Chr16:15724406 [GRCh38]
Chr16:15818263 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4342A>G (p.Lys1448Glu) single nucleotide variant not provided [RCV002223523] Chr16:15724184 [GRCh38]
Chr16:15818041 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.948-4616G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002193416] Chr16:15719575 [GRCh38]
Chr16:15813432 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4179G>C (p.Gly1393=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002197497] Chr16:15724347 [GRCh38]
Chr16:15818204 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5373G>A (p.Glu1791=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002088412] Chr16:15717271 [GRCh38]
Chr16:15811128 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5421C>G (p.Ala1807=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002129939] Chr16:15717223 [GRCh38]
Chr16:15811080 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4840C>T (p.Leu1614=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002133101] Chr16:15720264 [GRCh38]
Chr16:15814121 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.*630C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002094027]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485765] Chr16:15724881 [GRCh38]
Chr16:15818738 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.5682G>A (p.Gln1894=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002094118] Chr16:15715013 [GRCh38]
Chr16:15808870 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-9292_948-9291insT insertion Aortic aneurysm, familial thoracic 4 [RCV002131496] Chr16:15714899..15714900 [GRCh38]
Chr16:15808756..15808757 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.*627G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002075924] Chr16:15724878 [GRCh38]
Chr16:15818735 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5298C>G (p.Ala1766=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002077888] Chr16:15717346 [GRCh38]
Chr16:15811203 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.*553A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002171686] Chr16:15724804 [GRCh38]
Chr16:15818661 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5367G>A (p.Gln1789=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002214714] Chr16:15717277 [GRCh38]
Chr16:15811134 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-4047C>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002094181] Chr16:15720144 [GRCh38]
Chr16:15814001 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4128G>T (p.Ser1376=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002195072] Chr16:15724398 [GRCh38]
Chr16:15818255 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-3129A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002177377] Chr16:15721062 [GRCh38]
Chr16:15814919 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.813C>T (p.Leu271=) single nucleotide variant not provided [RCV002122093] Chr16:15696726 [GRCh38]
Chr16:15790583 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4776G>A (p.Arg1592=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002176292] Chr16:15720854 [GRCh38]
Chr16:15814711 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-9289T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002103080]|not provided [RCV003418374] Chr16:15714902 [GRCh38]
Chr16:15808759 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_017668.3(NDE1):c.948-44C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002177190] Chr16:15724147 [GRCh38]
Chr16:15818004 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-7071G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002218942] Chr16:15717120 [GRCh38]
Chr16:15810977 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001040113.2(MYH11):c.5817C>T (p.Pro1939=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002177766] Chr16:15708832 [GRCh38]
Chr16:15802689 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-5749G>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002143933] Chr16:15718442 [GRCh38]
Chr16:15812299 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4005T>G (p.Ser1335=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002199769] Chr16:15724758 [GRCh38]
Chr16:15818615 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-9088dup duplication Aortic aneurysm, familial thoracic 4 [RCV002122832] Chr16:15715099..15715100 [GRCh38]
Chr16:15808956..15808957 [GRCh37]
Chr16:16p13.11		 benign
NM_017668.3(NDE1):c.948-4866A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002159209] Chr16:15719325 [GRCh38]
Chr16:15813182 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-9290C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002182669] Chr16:15714901 [GRCh38]
Chr16:15808758 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3984C>G (p.Thr1328=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002198373] Chr16:15724779 [GRCh38]
Chr16:15818636 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4227G>A (p.Glu1409=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002139713] Chr16:15724299 [GRCh38]
Chr16:15818156 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5454G>C (p.Ala1818=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002203697] Chr16:15717190 [GRCh38]
Chr16:15811047 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.795+15T>C single nucleotide variant not provided [RCV002136611] Chr16:15694271 [GRCh38]
Chr16:15788128 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5286C>T (p.Ala1762=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002178624] Chr16:15718324 [GRCh38]
Chr16:15812181 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4546C>T (p.Leu1516=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002159274] Chr16:15721454 [GRCh38]
Chr16:15815311 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.948-4617C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002160687] Chr16:15719574 [GRCh38]
Chr16:15813431 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5336C>G (p.Thr1779Arg) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002204533]|Aortic aneurysm, familial thoracic 4 [RCV003224622] Chr16:15717308 [GRCh38]
Chr16:15811165 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5814C>A (p.Pro1938=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002157569] Chr16:15708835 [GRCh38]
Chr16:15802692 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3880G>A (p.Gly1294Arg) single nucleotide variant not provided [RCV003110032] Chr16:15724971 [GRCh38]
Chr16:15818828 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4116+8C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003115627] Chr16:15724639 [GRCh38]
Chr16:15818496 [GRCh37]
Chr16:16p13.11		 likely benign
NC_000016.9:g.(?_15758636)_(17564653_?)del deletion Desbuquois dysplasia 1 [RCV003111473] Chr16:15758636..17564653 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NC_000016.9:g.(?_15808746)_(15818869_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV003122383] Chr16:15808746..15818869 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5786+12G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003121174] Chr16:15714897 [GRCh38]
Chr16:15808754 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.54G>A (p.Trp18Ter) single nucleotide variant Lissencephaly 4 [RCV002266561]|NDE1-related microhydranencephaly [RCV002266560] Chr16:15664832 [GRCh38]
Chr16:15758689 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.3874G>T (p.Val1292Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002366270] Chr16:15724977 [GRCh38]
Chr16:15818834 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3981A>G (p.Glu1327=) single nucleotide variant not provided [RCV002292918] Chr16:15724782 [GRCh38]
Chr16:15818639 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15458733-18520588)x3 copy number gain not provided [RCV002292936] Chr16:15458733..18520588 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_002474.3(MYH11):c.5295+1G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002287211] Chr16:15718314 [GRCh38]
Chr16:15812171 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15416716-16529801)x3 copy number gain See cases [RCV002287559] Chr16:15416716..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15416917-18770833)x3 copy number gain See cases [RCV002286336] Chr16:15416917..18770833 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
NM_002474.3(MYH11):c.5417G>C (p.Gly1806Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629215]|Familial thoracic aortic aneurysm and aortic dissection [RCV002349448] Chr16:15717227 [GRCh38]
Chr16:15811084 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15551302-16194578)x1 copy number loss Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV002279760] Chr16:15551302..16194578 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5444_5448dup (p.Ala1817fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002349621] Chr16:15717195..15717196 [GRCh38]
Chr16:15811052..15811053 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15316939-18770833)x3 copy number gain not provided [RCV002472531] Chr16:15316939..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16319630)x3 copy number gain not provided [RCV002472542] Chr16:15509407..16319630 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.4058A>T (p.Asp1353Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003301237] Chr16:15724705 [GRCh38]
Chr16:15818562 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4866G>A (p.Leu1622=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003301238] Chr16:15720238 [GRCh38]
Chr16:15814095 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5401C>T (p.Leu1801Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002347275] Chr16:15717243 [GRCh38]
Chr16:15811100 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4578+1del deletion Aortic aneurysm, familial thoracic 4 [RCV002468867] Chr16:15721421 [GRCh38]
Chr16:15815278 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16527476)x3 copy number gain not provided [RCV002474571] Chr16:15509407..16527476 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_017668.3(NDE1):c.777C>G (p.Asp259Glu) single nucleotide variant Inborn genetic diseases [RCV002571473]|Lissencephaly 4 [RCV002471947]|not provided [RCV002573622] Chr16:15694238 [GRCh38]
Chr16:15788095 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.406G>A (p.Glu136Lys) single nucleotide variant Lissencephaly 4 [RCV002471946] Chr16:15687394 [GRCh38]
Chr16:15781251 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15509407-16330477)x3 copy number gain not provided [RCV002472550] Chr16:15509407..16330477 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509729-16255865)x3 copy number gain not provided [RCV002472817] Chr16:15509729..16255865 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15449697-16391045)x1 copy number loss not provided [RCV002472615] Chr16:15449697..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.4948C>A (p.Leu1650Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002342706] Chr16:15720156 [GRCh38]
Chr16:15814013 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15423704-16327961)x3 copy number gain not provided [RCV002472543] Chr16:15423704..16327961 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509592-16309165)x3 copy number gain not provided [RCV002472723] Chr16:15509592..16309165 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-15858075)x3 copy number gain not provided [RCV002474731] Chr16:15509407..15858075 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15481921-16330672)x3 copy number gain not provided [RCV002474550] Chr16:15481921..16330672 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14925995-16309165)x3 copy number gain not provided [RCV002473711] Chr16:14925995..16309165 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16330672)x3 copy number gain not provided [RCV002474521] Chr16:15509407..16330672 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.5299G>C (p.Glu1767Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002344554] Chr16:15717345 [GRCh38]
Chr16:15811202 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5308A>C (p.Ser1770Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002344622] Chr16:15717336 [GRCh38]
Chr16:15811193 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5597A>G (p.Glu1866Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002344844] Chr16:15715180 [GRCh38]
Chr16:15809037 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.12-13.11(chr16:14780544-16330627)x1 copy number loss not provided [RCV002473940] Chr16:14780544..16330627 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
NM_002474.3(MYH11):c.5879C>A (p.Thr1960Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002353500] Chr16:15704031 [GRCh38]
Chr16:15797888 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5734G>C (p.Glu1912Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002347744] Chr16:15714961 [GRCh38]
Chr16:15808818 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3933G>C (p.Ala1311=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002373238] Chr16:15724918 [GRCh38]
Chr16:15818775 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4244A>G (p.Tyr1415Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002329799] Chr16:15724282 [GRCh38]
Chr16:15818139 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4092C>G (p.Arg1364=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629212]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323247]|MYH11-related condition [RCV003896128] Chr16:15724671 [GRCh38]
Chr16:15818528 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4801T>G (p.Tyr1601Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002337890] Chr16:15720303 [GRCh38]
Chr16:15814160 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5073G>A (p.Gln1691=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003096602]|Familial thoracic aortic aneurysm and aortic dissection [RCV002335842] Chr16:15719594 [GRCh38]
Chr16:15813451 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5230G>A (p.Glu1744Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340860] Chr16:15718380 [GRCh38]
Chr16:15812237 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4630A>T (p.Met1544Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002330409] Chr16:15721000 [GRCh38]
Chr16:15814857 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4238C>A (p.Ala1413Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002328162] Chr16:15724288 [GRCh38]
Chr16:15818145 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5268C>T (p.Ser1756=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003096674]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341052] Chr16:15718342 [GRCh38]
Chr16:15812199 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3990G>A (p.Gln1330=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002375588] Chr16:15724773 [GRCh38]
Chr16:15818630 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4091G>A (p.Arg1364His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514560]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323240] Chr16:15724672 [GRCh38]
Chr16:15818529 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5809G>C (p.Val1937Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002359933] Chr16:15704101 [GRCh38]
Chr16:15797958 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4511G>T (p.Arg1504Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002339924] Chr16:15721489 [GRCh38]
Chr16:15815346 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4725G>T (p.Gln1575His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002335435] Chr16:15720905 [GRCh38]
Chr16:15814762 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4839C>A (p.Ala1613=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002338108] Chr16:15720265 [GRCh38]
Chr16:15814122 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4404G>A (p.Ala1468=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003094682]|Familial thoracic aortic aneurysm and aortic dissection [RCV002333769] Chr16:15721596 [GRCh38]
Chr16:15815453 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_002474.3(MYH11):c.4568T>C (p.Val1523Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340232] Chr16:15721432 [GRCh38]
Chr16:15815289 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4519A>C (p.Lys1507Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002339966] Chr16:15721481 [GRCh38]
Chr16:15815338 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5163G>A (p.Leu1721=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629214]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338331] Chr16:15719228 [GRCh38]
Chr16:15813085 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4419A>G (p.Arg1473=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002333866] Chr16:15721581 [GRCh38]
Chr16:15815438 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4243T>G (p.Tyr1415Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002329796] Chr16:15724283 [GRCh38]
Chr16:15818140 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4685A>T (p.Lys1562Ile) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002299633] Chr16:15720945 [GRCh38]
Chr16:15814802 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4257A>G (p.Glu1419=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002329902] Chr16:15724269 [GRCh38]
Chr16:15818126 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5838A>G (p.Arg1946=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002353261] Chr16:15704072 [GRCh38]
Chr16:15797929 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4800G>A (p.Glu1600=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002337881] Chr16:15720304 [GRCh38]
Chr16:15814161 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4435A>C (p.Arg1479=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002328232] Chr16:15721565 [GRCh38]
Chr16:15815422 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5219A>G (p.Gln1740Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340799] Chr16:15718391 [GRCh38]
Chr16:15812248 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5226G>A (p.Glu1742=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340820] Chr16:15718384 [GRCh38]
Chr16:15812241 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4413G>A (p.Arg1471=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629213]|Familial thoracic aortic aneurysm and aortic dissection [RCV002333839] Chr16:15721587 [GRCh38]
Chr16:15815444 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5834G>A (p.Arg1945His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002353253] Chr16:15704076 [GRCh38]
Chr16:15797933 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5836A>G (p.Arg1946Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002353257] Chr16:15704074 [GRCh38]
Chr16:15797931 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3949C>G (p.Leu1317Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002373314] Chr16:15724902 [GRCh38]
Chr16:15818759 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4618C>G (p.Gln1540Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002330370] Chr16:15721012 [GRCh38]
Chr16:15814869 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5856T>C (p.Asp1952=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002353362] Chr16:15704054 [GRCh38]
Chr16:15797911 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4359T>C (p.Phe1453=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002332318] Chr16:15724167 [GRCh38]
Chr16:15818024 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4588C>A (p.Leu1530Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002342249] Chr16:15721042 [GRCh38]
Chr16:15814899 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4968C>G (p.Asp1656Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002342820] Chr16:15719699 [GRCh38]
Chr16:15813556 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4070A>C (p.Glu1357Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002321465] Chr16:15724693 [GRCh38]
Chr16:15818550 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4762GAG[1] (p.Glu1589del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV003528365]|not provided [RCV002300811] Chr16:15720863..15720865 [GRCh38]
Chr16:15814720..15814722 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5907G>A (p.Lys1969=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002355727] Chr16:15704003 [GRCh38]
Chr16:15797860 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4263C>G (p.Thr1421=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002329961] Chr16:15724263 [GRCh38]
Chr16:15818120 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5796C>A (p.Asn1932Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002359789] Chr16:15704114 [GRCh38]
Chr16:15797971 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5579A>G (p.Asp1860Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002344728] Chr16:15715198 [GRCh38]
Chr16:15809055 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4288G>A (p.Asp1430Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003094626]|Familial thoracic aortic aneurysm and aortic dissection [RCV002330169]|Inborn genetic diseases [RCV003269167] Chr16:15724238 [GRCh38]
Chr16:15818095 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4241C>A (p.Ala1414Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002328213] Chr16:15724285 [GRCh38]
Chr16:15818142 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4949T>A (p.Leu1650Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002342707] Chr16:15720155 [GRCh38]
Chr16:15814012 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5614G>C (p.Ala1872Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002344976] Chr16:15715081 [GRCh38]
Chr16:15808938 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4811A>T (p.Glu1604Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002337965] Chr16:15720293 [GRCh38]
Chr16:15814150 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4991C>G (p.Ala1664Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002342955] Chr16:15719676 [GRCh38]
Chr16:15813533 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4873G>A (p.Asp1625Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002330813] Chr16:15720231 [GRCh38]
Chr16:15814088 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4684A>G (p.Lys1562Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002335216] Chr16:15720946 [GRCh38]
Chr16:15814803 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5002A>C (p.Arg1668=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002343071] Chr16:15719665 [GRCh38]
Chr16:15813522 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5865G>A (p.Glu1955=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002353430]|MYH11-related condition [RCV003916456] Chr16:15704045 [GRCh38]
Chr16:15797902 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5149C>A (p.Leu1717Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514563]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338237] Chr16:15719242 [GRCh38]
Chr16:15813099 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4056G>T (p.Leu1352=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003094499]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321332] Chr16:15724707 [GRCh38]
Chr16:15818564 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3951C>G (p.Leu1317=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002375431] Chr16:15724900 [GRCh38]
Chr16:15818757 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4686A>C (p.Lys1562Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002616208] Chr16:15720944 [GRCh38]
Chr16:15814801 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.704-12T>C single nucleotide variant not provided [RCV002861458] Chr16:15694153 [GRCh38]
Chr16:15788010 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14927709-16484731)x3 copy number gain not provided [RCV002511850] Chr16:14927709..16484731 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.4601A>G (p.Lys1534Arg) single nucleotide variant Inborn genetic diseases [RCV002771782] Chr16:15721029 [GRCh38]
Chr16:15814886 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4629G>A (p.Glu1543=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002858681] Chr16:15721001 [GRCh38]
Chr16:15814858 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4885C>T (p.Leu1629=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002995329] Chr16:15720219 [GRCh38]
Chr16:15814076 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5003G>C (p.Arg1668Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002967839] Chr16:15719664 [GRCh38]
Chr16:15813521 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5742C>G (p.Asn1914Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002975458] Chr16:15714953 [GRCh38]
Chr16:15808810 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4554C>T (p.Ser1518=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003035178] Chr16:15721446 [GRCh38]
Chr16:15815303 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5636T>C (p.Val1879Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002991497] Chr16:15715059 [GRCh38]
Chr16:15808916 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5171+12_5171+15del deletion Aortic aneurysm, familial thoracic 4 [RCV002947234] Chr16:15719205..15719208 [GRCh38]
Chr16:15813062..15813065 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5097T>G (p.Ala1699=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002819489] Chr16:15719294 [GRCh38]
Chr16:15813151 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4862A>T (p.Lys1621Met) single nucleotide variant Inborn genetic diseases [RCV002728324] Chr16:15720242 [GRCh38]
Chr16:15814099 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.785G>A (p.Arg262Gln) single nucleotide variant Inborn genetic diseases [RCV002753694] Chr16:15694246 [GRCh38]
Chr16:15788103 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4472C>T (p.Ala1491Val) single nucleotide variant Inborn genetic diseases [RCV002776752] Chr16:15721528 [GRCh38]
Chr16:15815385 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5230_5231delinsCT (p.Glu1744Leu) indel not provided [RCV003152283] Chr16:15718379..15718380 [GRCh38]
Chr16:15812236..15812237 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4954-17_4954-7dup duplication Aortic aneurysm, familial thoracic 4 [RCV002838472] Chr16:15719719..15719720 [GRCh38]
Chr16:15813576..15813577 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.66G>A (p.Ala22=) single nucleotide variant NDE1-related condition [RCV003898850]|not provided [RCV002592038] Chr16:15664844 [GRCh38]
Chr16:15758701 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.386G>A (p.Arg129His) single nucleotide variant Inborn genetic diseases [RCV002708345] Chr16:15677949 [GRCh38]
Chr16:15771806 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4713G>A (p.Ala1571=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002640237] Chr16:15720917 [GRCh38]
Chr16:15814774 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4567G>A (p.Val1523Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002662779]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528408]|not provided [RCV003491136] Chr16:15721433 [GRCh38]
Chr16:15815290 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3859-16C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002979562] Chr16:15725008 [GRCh38]
Chr16:15818865 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4609C>T (p.Leu1537=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003017974] Chr16:15721021 [GRCh38]
Chr16:15814878 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4954-10A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002866722] Chr16:15719723 [GRCh38]
Chr16:15813580 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4471G>A (p.Ala1491Thr) single nucleotide variant Inborn genetic diseases [RCV002821741] Chr16:15721529 [GRCh38]
Chr16:15815386 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5171+15G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002760282] Chr16:15719205 [GRCh38]
Chr16:15813062 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5117C>T (p.Ala1706Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002923276]|not provided [RCV003234213] Chr16:15719274 [GRCh38]
Chr16:15813131 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5295+9C>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002659690] Chr16:15718306 [GRCh38]
Chr16:15812163 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.900C>T (p.Gly300=) single nucleotide variant not provided [RCV003080645] Chr16:15696813 [GRCh38]
Chr16:15790670 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5058A>G (p.Glu1686=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002847974] Chr16:15719609 [GRCh38]
Chr16:15813466 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.644C>T (p.Thr215Met) single nucleotide variant Inborn genetic diseases [RCV002693283] Chr16:15691264 [GRCh38]
Chr16:15785121 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5748C>T (p.Ala1916=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002796320] Chr16:15714947 [GRCh38]
Chr16:15808804 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4791+12C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002958957] Chr16:15720827 [GRCh38]
Chr16:15814684 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5193G>A (p.Lys1731=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003056180] Chr16:15718417 [GRCh38]
Chr16:15812274 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4586_4598inv (p.Glu1529_Ser1533delinsGlyLeuLeuGlnLeu) inversion Familial thoracic aortic aneurysm and aortic dissection [RCV003528417]|not provided [RCV003059904] Chr16:15721032..15721044 [GRCh38]
Chr16:15814889..15814901 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4792-17C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002642410] Chr16:15720329 [GRCh38]
Chr16:15814186 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001040113.2(MYH11):c.5808-3_5808-2del deletion Aortic aneurysm, familial thoracic 4 [RCV003056626] Chr16:15708843..15708844 [GRCh38]
Chr16:15802700..15802701 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3985C>T (p.Arg1329Trp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002664036]|Familial thoracic aortic aneurysm and aortic dissection [RCV003294600] Chr16:15724778 [GRCh38]
Chr16:15818635 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4114C>G (p.Gln1372Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002741393]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528411] Chr16:15724649 [GRCh38]
Chr16:15818506 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5161C>T (p.Leu1721=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002872354] Chr16:15719230 [GRCh38]
Chr16:15813087 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.26G>C (p.Ser9Thr) single nucleotide variant Inborn genetic diseases [RCV002873586]|NDE1-related condition [RCV003953996] Chr16:15664804 [GRCh38]
Chr16:15758661 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5082+10C>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003083684] Chr16:15719575 [GRCh38]
Chr16:15813432 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5784C>T (p.Leu1928=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002663339] Chr16:15714911 [GRCh38]
Chr16:15808768 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.325C>G (p.Gln109Glu) single nucleotide variant Inborn genetic diseases [RCV002853976] Chr16:15677888 [GRCh38]
Chr16:15771745 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.530G>A (p.Arg177Gln) single nucleotide variant not provided [RCV002626999] Chr16:15691150 [GRCh38]
Chr16:15785007 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.83+8C>T single nucleotide variant not provided [RCV002642728] Chr16:15664869 [GRCh38]
Chr16:15758726 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5405A>C (p.His1802Pro) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003042825] Chr16:15717239 [GRCh38]
Chr16:15811096 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4117-6T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002985234]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528415] Chr16:15724415 [GRCh38]
Chr16:15818272 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.638C>A (p.Pro213Gln) single nucleotide variant not provided [RCV002596365] Chr16:15691258 [GRCh38]
Chr16:15785115 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4846G>C (p.Ala1616Pro) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003085640]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528423] Chr16:15720258 [GRCh38]
Chr16:15814115 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5614-5G>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002740780] Chr16:15715086 [GRCh38]
Chr16:15808943 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5083-7_5083-4del deletion Aortic aneurysm, familial thoracic 4 [RCV002741750] Chr16:15719312..15719315 [GRCh38]
Chr16:15813169..15813172 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5527T>A (p.Ser1843Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003005506] Chr16:15715250 [GRCh38]
Chr16:15809107 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5447T>C (p.Ile1816Thr) single nucleotide variant Inborn genetic diseases [RCV002875462] Chr16:15717197 [GRCh38]
Chr16:15811054 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.388G>A (p.Ala130Thr) single nucleotide variant Inborn genetic diseases [RCV002803589] Chr16:15687376 [GRCh38]
Chr16:15781233 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.96G>A (p.Thr32=) single nucleotide variant not provided [RCV002649686] Chr16:15667298 [GRCh38]
Chr16:15761155 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.387C>A (p.Arg129=) single nucleotide variant not provided [RCV002650648] Chr16:15687375 [GRCh38]
Chr16:15781232 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4188G>A (p.Arg1396=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002899261] Chr16:15724338 [GRCh38]
Chr16:15818195 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4117-5T>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003027724] Chr16:15724414 [GRCh38]
Chr16:15818271 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5403C>T (p.Leu1801=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002632565] Chr16:15717241 [GRCh38]
Chr16:15811098 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5031G>C (p.Glu1677Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002966752] Chr16:15719636 [GRCh38]
Chr16:15813493 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4575G>T (p.Lys1525Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002806923] Chr16:15721425 [GRCh38]
Chr16:15815282 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4365+7G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003062815] Chr16:15724154 [GRCh38]
Chr16:15818011 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5578G>T (p.Asp1860Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002791681] Chr16:15715199 [GRCh38]
Chr16:15809056 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5171+2T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003009596] Chr16:15719218 [GRCh38]
Chr16:15813075 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.4186A>G (p.Arg1396Gly) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002715441] Chr16:15724340 [GRCh38]
Chr16:15818197 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3859-9C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002627415] Chr16:15725001 [GRCh38]
Chr16:15818858 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3894G>A (p.Glu1298=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002834017] Chr16:15724957 [GRCh38]
Chr16:15818814 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.729C>T (p.Thr243=) single nucleotide variant not provided [RCV002580493] Chr16:15694190 [GRCh38]
Chr16:15788047 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5296-17T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002579255] Chr16:15717365 [GRCh38]
Chr16:15811222 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.627G>A (p.Thr209=) single nucleotide variant NDE1-related condition [RCV003936471]|not provided [RCV002963348] Chr16:15691247 [GRCh38]
Chr16:15785104 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3960C>T (p.Thr1320=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002632239] Chr16:15724891 [GRCh38]
Chr16:15818748 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4546C>A (p.Leu1516Met) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002791676] Chr16:15721454 [GRCh38]
Chr16:15815311 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3859-7C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002582573]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528405] Chr16:15724999 [GRCh38]
Chr16:15818856 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.366C>T (p.Asp122=) single nucleotide variant not provided [RCV002654478] Chr16:15677929 [GRCh38]
Chr16:15771786 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.630C>T (p.Gly210=) single nucleotide variant not provided [RCV002604299] Chr16:15691250 [GRCh38]
Chr16:15785107 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5385G>A (p.Lys1795=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002586907] Chr16:15717259 [GRCh38]
Chr16:15811116 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5172-20C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002607672] Chr16:15718458 [GRCh38]
Chr16:15812315 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5083-4C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002588389] Chr16:15719312 [GRCh38]
Chr16:15813169 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5786+19G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002588685]|not specified [RCV003479479] Chr16:15714890 [GRCh38]
Chr16:15808747 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4437G>A (p.Arg1479=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002589269] Chr16:15721563 [GRCh38]
Chr16:15815420 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4215C>T (p.Thr1405=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002609972] Chr16:15724311 [GRCh38]
Chr16:15818168 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4953+7G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV002612101] Chr16:15720144 [GRCh38]
Chr16:15814001 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4954-5T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003068711] Chr16:15719718 [GRCh38]
Chr16:15813575 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4953+5G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003150689] Chr16:15720146 [GRCh38]
Chr16:15814003 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4690C>T (p.Arg1564Trp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003150690] Chr16:15720940 [GRCh38]
Chr16:15814797 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5346G>C (p.Lys1782Asn) single nucleotide variant not provided [RCV003132731] Chr16:15717298 [GRCh38]
Chr16:15811155 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3931G>A (p.Ala1311Thr) single nucleotide variant not provided [RCV003132732] Chr16:15724920 [GRCh38]
Chr16:15818777 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4241_4242inv (p.Ala1414Glu) inversion not provided [RCV003132734] Chr16:15724284..15724285 [GRCh38]
Chr16:15818141..15818142 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.14683149_16205174dup duplication not specified [RCV003225664] Chr16:14683149..16205174 [GRCh38]
Chr16:16p13.12-13.11		 uncertain significance
NM_002474.3(MYH11):c.5398A>G (p.Lys1800Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003216447] Chr16:15717246 [GRCh38]
Chr16:15811103 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.722G>C (p.Gly241Ala) single nucleotide variant not provided [RCV003218908] Chr16:15694183 [GRCh38]
Chr16:15788040 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4766A>G (p.Glu1589Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003168163] Chr16:15720864 [GRCh38]
Chr16:15814721 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3932C>A (p.Ala1311Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003168169] Chr16:15724919 [GRCh38]
Chr16:15818776 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3914A>C (p.Lys1305Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003168170] Chr16:15724937 [GRCh38]
Chr16:15818794 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4819G>T (p.Asp1607Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514612]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168172]|not provided [RCV003235787] Chr16:15720285 [GRCh38]
Chr16:15814142 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4780C>T (p.Leu1594=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003176782] Chr16:15720850 [GRCh38]
Chr16:15814707 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5030A>C (p.Glu1677Ala) single nucleotide variant Inborn genetic diseases [RCV003203097] Chr16:15719637 [GRCh38]
Chr16:15813494 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5383A>G (p.Lys1795Glu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629254]|not provided [RCV003223900] Chr16:15717261 [GRCh38]
Chr16:15811118 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4263C>T (p.Thr1421=) single nucleotide variant not provided [RCV003222861] Chr16:15724263 [GRCh38]
Chr16:15818120 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5279G>A (p.Arg1760His) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629248]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168164] Chr16:15718331 [GRCh38]
Chr16:15812188 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4367T>C (p.Leu1456Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003168165] Chr16:15721633 [GRCh38]
Chr16:15815490 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4301T>C (p.Val1434Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003176785] Chr16:15724225 [GRCh38]
Chr16:15818082 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16678513) copy number gain Anomalous pulmonary venous return [RCV003223578] Chr16:14816348..16678513 [GRCh38]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.784C>G (p.Arg262Gly) single nucleotide variant Inborn genetic diseases [RCV003195135] Chr16:15694245 [GRCh38]
Chr16:15788102 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5471C>T (p.Ala1824Val) single nucleotide variant not provided [RCV003319841] Chr16:15717173 [GRCh38]
Chr16:15811030 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001040113.2(MYH11):c.5824G>A (p.Glu1942Lys) single nucleotide variant not provided [RCV003321291] Chr16:15708825 [GRCh38]
Chr16:15802682 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5616A>C (p.Ala1872=) single nucleotide variant not provided [RCV003326935] Chr16:15715079 [GRCh38]
Chr16:15808936 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1 copy number loss Autosomal recessive inherited pseudoxanthoma elasticum [RCV003329506] Chr16:15475455..16308356 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1 copy number loss 16p13.11 microdeletion syndrome [RCV003329546] Chr16:14853752..16666672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1 copy number loss 16p13.11 microdeletion syndrome [RCV003329551] Chr16:15489453..18321582 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3 copy number gain 16p13.11 microduplication syndrome [RCV003329524] Chr16:15125542..16388672 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5133G>A (p.Glu1711=) single nucleotide variant not specified [RCV003332034] Chr16:15719258 [GRCh38]
Chr16:15813115 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4535A>T (p.Glu1512Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003380080] Chr16:15721465 [GRCh38]
Chr16:15815322 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5676G>A (p.Glu1892=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003380086] Chr16:15715019 [GRCh38]
Chr16:15808876 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4021C>A (p.Leu1341Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003380083] Chr16:15724742 [GRCh38]
Chr16:15818599 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4864C>T (p.Leu1622=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003380085] Chr16:15720240 [GRCh38]
Chr16:15814097 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4440G>C (p.Glu1480Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003380084] Chr16:15721560 [GRCh38]
Chr16:15815417 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5102G>C (p.Arg1701Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003380078] Chr16:15719289 [GRCh38]
Chr16:15813146 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5847A>C (p.Glu1949Asp) single nucleotide variant Inborn genetic diseases [RCV003352304] Chr16:15704063 [GRCh38]
Chr16:15797920 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15460510-16443142)x3 copy number gain not provided [RCV003456960] Chr16:15460510..16443142 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15058821-16837613)x3 copy number gain not provided [RCV003485099] Chr16:15058821..16837613 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14927709-16364041)x1 copy number loss not provided [RCV003419542] Chr16:14927709..16364041 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15324776-16294705)x1 copy number loss not provided [RCV003483276] Chr16:15324776..16294705 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15358446-16494783)x1 copy number loss not provided [RCV003483277] Chr16:15358446..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15450290-16458408)x1 copy number loss not provided [RCV003483278] Chr16:15450290..16458408 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15481748-16391045)x1 copy number loss not provided [RCV003483279] Chr16:15481748..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15481748-15761254)x3 copy number gain not provided [RCV003485100] Chr16:15481748..15761254 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15509592-16873547)x3 copy number gain not provided [RCV003485103] Chr16:15509592..16873547 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15054346-16309165)x3 copy number gain not provided [RCV003485098] Chr16:15054346..16309165 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15507899-16388359)x3 copy number gain not provided [RCV003485101] Chr16:15507899..16388359 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15509407-18779589)x3 copy number gain not provided [RCV003485102] Chr16:15509407..18779589 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_002474.3(MYH11):c.5562C>G (p.Ile1854Met) single nucleotide variant not provided [RCV003456920] Chr16:15715215 [GRCh38]
Chr16:15809072 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4312A>G (p.Asn1438Asp) single nucleotide variant MYH11-related condition [RCV003402236] Chr16:15724214 [GRCh38]
Chr16:15818071 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4071G>A (p.Glu1357=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629275]|not provided [RCV003426604] Chr16:15724692 [GRCh38]
Chr16:15818549 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.947+2920G>A single nucleotide variant not provided [RCV003417660] Chr16:15699780 [GRCh38]
Chr16:15793637 [GRCh37]
Chr16:16p13.11		 benign
NM_002474.3(MYH11):c.5743G>A (p.Glu1915Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003516489] Chr16:15714952 [GRCh38]
Chr16:15808809 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4965G>T (p.Lys1655Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630558] Chr16:15719702 [GRCh38]
Chr16:15813559 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5399A>C (p.Lys1800Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629597] Chr16:15717245 [GRCh38]
Chr16:15811102 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4051C>A (p.Gln1351Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630735] Chr16:15724712 [GRCh38]
Chr16:15818569 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4150G>C (p.Ala1384Pro) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515199]|Familial thoracic aortic aneurysm and aortic dissection [RCV003527747] Chr16:15724376 [GRCh38]
Chr16:15818233 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5613+19C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514078] Chr16:15715145 [GRCh38]
Chr16:15809002 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4379A>G (p.Glu1460Gly) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629713] Chr16:15721621 [GRCh38]
Chr16:15815478 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4792-13A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629777] Chr16:15720325 [GRCh38]
Chr16:15814182 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5261C>A (p.Ala1754Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515641] Chr16:15718349 [GRCh38]
Chr16:15812206 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4116+11C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629739] Chr16:15724636 [GRCh38]
Chr16:15818493 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5388G>A (p.Glu1796=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528105] Chr16:15717256 [GRCh38]
Chr16:15811113 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5206G>A (p.Ala1736Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528109] Chr16:15718404 [GRCh38]
Chr16:15812261 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4782G>C (p.Leu1594=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528115] Chr16:15720848 [GRCh38]
Chr16:15814705 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191) copy number loss Autism spectrum disorder [RCV003883423] Chr16:15184811..18708191 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
NM_002474.3(MYH11):c.4610T>G (p.Leu1537Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528116] Chr16:15721020 [GRCh38]
Chr16:15814877 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4540G>A (p.Glu1514Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528117] Chr16:15721460 [GRCh38]
Chr16:15815317 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4210C>G (p.Leu1404Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528125] Chr16:15724316 [GRCh38]
Chr16:15818173 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3888T>G (p.Leu1296=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528132] Chr16:15724963 [GRCh38]
Chr16:15818820 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.956C>G (p.Thr319Arg) single nucleotide variant not provided [RCV003488118] Chr16:15724199 [GRCh38]
Chr16:15818056 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4117-13G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630062] Chr16:15724422 [GRCh38]
Chr16:15818279 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5125G>C (p.Glu1709Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528110] Chr16:15719266 [GRCh38]
Chr16:15813123 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5083-4del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003528111] Chr16:15719312 [GRCh38]
Chr16:15813169 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4499A>G (p.Glu1500Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528119] Chr16:15721501 [GRCh38]
Chr16:15815358 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4252C>T (p.Leu1418=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528124] Chr16:15724274 [GRCh38]
Chr16:15818131 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4160T>G (p.Val1387Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528127] Chr16:15724366 [GRCh38]
Chr16:15818223 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4792-20C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630635] Chr16:15720332 [GRCh38]
Chr16:15814189 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4116+13T>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630638] Chr16:15724634 [GRCh38]
Chr16:15818491 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4465G>A (p.Ala1489Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003779321]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528120] Chr16:15721535 [GRCh38]
Chr16:15815392 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5013C>A (p.Ile1671=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515815] Chr16:15719654 [GRCh38]
Chr16:15813511 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4791+16_4791+17delinsAG indel Aortic aneurysm, familial thoracic 4 [RCV003516145] Chr16:15720822..15720823 [GRCh38]
Chr16:15814679..15814680 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5041A>C (p.Lys1681Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514822] Chr16:15719626 [GRCh38]
Chr16:15813483 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5512C>A (p.Gln1838Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003516236] Chr16:15715265 [GRCh38]
Chr16:15809122 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5083-18T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003628974] Chr16:15719326 [GRCh38]
Chr16:15813183 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.238-20G>C single nucleotide variant not provided [RCV003578623] Chr16:15677781 [GRCh38]
Chr16:15771638 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4061A>T (p.Glu1354Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514787] Chr16:15724702 [GRCh38]
Chr16:15818559 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5614-20C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003516171] Chr16:15715101 [GRCh38]
Chr16:15808958 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5355T>C (p.Ser1785=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003516579] Chr16:15717289 [GRCh38]
Chr16:15811146 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4792-17CT[3] microsatellite Aortic aneurysm, familial thoracic 4 [RCV003630011] Chr16:15720325..15720326 [GRCh38]
Chr16:15814182..15814183 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5124C>G (p.Leu1708=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003516390] Chr16:15719267 [GRCh38]
Chr16:15813124 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4791+4C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003876689] Chr16:15720835 [GRCh38]
Chr16:15814692 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5452_5453delinsTT (p.Ala1818Leu) indel Familial thoracic aortic aneurysm and aortic dissection [RCV003486456] Chr16:15717191..15717192 [GRCh38]
Chr16:15811048..15811049 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5143G>C (p.Glu1715Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003877638] Chr16:15719248 [GRCh38]
Chr16:15813105 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4740C>G (p.Leu1580=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515351] Chr16:15720890 [GRCh38]
Chr16:15814747 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4035G>C (p.Arg1345=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003516014] Chr16:15724728 [GRCh38]
Chr16:15818585 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5192A>C (p.Lys1731Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515466] Chr16:15718418 [GRCh38]
Chr16:15812275 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5578G>A (p.Asp1860Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528101] Chr16:15715199 [GRCh38]
Chr16:15809056 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5353_5355delinsTGC (p.Ser1785Cys) indel Familial thoracic aortic aneurysm and aortic dissection [RCV003528106] Chr16:15717289..15717291 [GRCh38]
Chr16:15811146..15811148 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5591T>C (p.Met1864Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515509] Chr16:15715186 [GRCh38]
Chr16:15809043 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3901G>A (p.Gly1301Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528131] Chr16:15724950 [GRCh38]
Chr16:15818807 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4954-11G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003628949] Chr16:15719724 [GRCh38]
Chr16:15813581 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4579-24_4579-16dup duplication Aortic aneurysm, familial thoracic 4 [RCV003629708] Chr16:15721066..15721067 [GRCh38]
Chr16:15814923..15814924 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5082+16G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629753] Chr16:15719569 [GRCh38]
Chr16:15813426 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5400G>T (p.Lys1800Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514930] Chr16:15717244 [GRCh38]
Chr16:15811101 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4251A>T (p.Lys1417Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515686] Chr16:15724275 [GRCh38]
Chr16:15818132 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5504+11G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515697] Chr16:15717129 [GRCh38]
Chr16:15810986 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5504+19C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515726] Chr16:15717121 [GRCh38]
Chr16:15810978 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5787-4683C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528095] Chr16:15708806 [GRCh38]
Chr16:15802663 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5718G>A (p.Glu1906=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528096] Chr16:15714977 [GRCh38]
Chr16:15808834 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5691C>A (p.Asn1897Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528097] Chr16:15715004 [GRCh38]
Chr16:15808861 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4953+17G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515741] Chr16:15720134 [GRCh38]
Chr16:15813991 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5275G>C (p.Val1759Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528108] Chr16:15718335 [GRCh38]
Chr16:15812192 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5055G>A (p.Leu1685=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528112] Chr16:15719612 [GRCh38]
Chr16:15813469 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5002A>T (p.Arg1668Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528113] Chr16:15719665 [GRCh38]
Chr16:15813522 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4117-7C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528128] Chr16:15724416 [GRCh38]
Chr16:15818273 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3908C>A (p.Ala1303Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528130] Chr16:15724943 [GRCh38]
Chr16:15818800 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3859-15T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528133] Chr16:15725007 [GRCh38]
Chr16:15818864 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4791+14G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629891] Chr16:15720825 [GRCh38]
Chr16:15814682 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4691G>T (p.Arg1564Leu) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630431] Chr16:15720939 [GRCh38]
Chr16:15814796 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5171+16_5171+19del deletion Aortic aneurysm, familial thoracic 4 [RCV003629043] Chr16:15719201..15719204 [GRCh38]
Chr16:15813058..15813061 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4116+14del deletion Aortic aneurysm, familial thoracic 4 [RCV003629867] Chr16:15724633 [GRCh38]
Chr16:15818490 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5214C>A (p.Ile1738=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630407] Chr16:15718396 [GRCh38]
Chr16:15812253 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5786+19G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003516309] Chr16:15714890 [GRCh38]
Chr16:15808747 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5428T>C (p.Ser1810Pro) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629289]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528104] Chr16:15717216 [GRCh38]
Chr16:15811073 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4366-18C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514886] Chr16:15721652 [GRCh38]
Chr16:15815509 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5101_5102del (p.Arg1701fs) microsatellite Aortic aneurysm, familial thoracic 4 [RCV003629324] Chr16:15719289..15719290 [GRCh38]
Chr16:15813146..15813147 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001040113.2(MYH11):c.5815C>T (p.Pro1939Ser) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515431] Chr16:15708834 [GRCh38]
Chr16:15802691 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4679A>G (p.Asp1560Gly) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515429] Chr16:15720951 [GRCh38]
Chr16:15814808 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5562C>A (p.Ile1854=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629402] Chr16:15715215 [GRCh38]
Chr16:15809072 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5495AGG[1] (p.Glu1833del) microsatellite Aortic aneurysm, familial thoracic 4 [RCV003629443] Chr16:15717144..15717146 [GRCh38]
Chr16:15811001..15811003 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5171+7A>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003516037] Chr16:15719213 [GRCh38]
Chr16:15813070 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.3859-17T>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629507] Chr16:15725009 [GRCh38]
Chr16:15818866 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5296-17_5340dup duplication Aortic aneurysm, familial thoracic 4 [RCV003515578] Chr16:15717303..15717304 [GRCh38]
Chr16:15811160..15811161 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5296-15C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003516499] Chr16:15717363 [GRCh38]
Chr16:15811220 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4283A>G (p.Glu1428Gly) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003516504] Chr16:15724243 [GRCh38]
Chr16:15818100 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4914G>T (p.Lys1638Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629542] Chr16:15720190 [GRCh38]
Chr16:15814047 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4421C>T (p.Ala1474Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630139] Chr16:15721579 [GRCh38]
Chr16:15815436 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5374C>A (p.Arg1792=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515998]|Familial thoracic aortic aneurysm and aortic dissection [RCV003527925] Chr16:15717270 [GRCh38]
Chr16:15811127 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5171+16G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629591] Chr16:15719204 [GRCh38]
Chr16:15813061 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4174G>C (p.Glu1392Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003513805] Chr16:15724352 [GRCh38]
Chr16:15818209 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4117-20C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003513871] Chr16:15724429 [GRCh38]
Chr16:15818286 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4557C>T (p.Ser1519=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629562] Chr16:15721443 [GRCh38]
Chr16:15815300 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5296-7T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629555] Chr16:15717355 [GRCh38]
Chr16:15811212 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5172-15C>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003516586] Chr16:15718453 [GRCh38]
Chr16:15812310 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001040113.2(MYH11):c.5832G>C (p.Ser1944=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003515720] Chr16:15708817 [GRCh38]
Chr16:15802674 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5786+17C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514101] Chr16:15714892 [GRCh38]
Chr16:15808749 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4953+11C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629757] Chr16:15720140 [GRCh38]
Chr16:15813997 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5656_5668del (p.Leu1886fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003528099] Chr16:15715027..15715039 [GRCh38]
Chr16:15808884..15808896 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5642A>G (p.Gln1881Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528100] Chr16:15715053 [GRCh38]
Chr16:15808910 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5296-10_5296-9del microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV003528107] Chr16:15717357..15717358 [GRCh38]
Chr16:15811214..15811215 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4915G>A (p.Gly1639Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528114] Chr16:15720189 [GRCh38]
Chr16:15814046 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4518C>G (p.Asn1506Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528118] Chr16:15721482 [GRCh38]
Chr16:15815339 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4431A>T (p.Glu1477Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528121] Chr16:15721569 [GRCh38]
Chr16:15815426 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4416C>T (p.Asp1472=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528122] Chr16:15721584 [GRCh38]
Chr16:15815441 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4163A>T (p.Glu1388Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528126] Chr16:15724363 [GRCh38]
Chr16:15818220 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4048G>C (p.Asp1350His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528129] Chr16:15724715 [GRCh38]
Chr16:15818572 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4578+6T>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629811] Chr16:15721416 [GRCh38]
Chr16:15815273 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5598G>A (p.Glu1866=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629828] Chr16:15715179 [GRCh38]
Chr16:15809036 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5083-4C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629663] Chr16:15719312 [GRCh38]
Chr16:15813169 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4315C>T (p.Gln1439Ter) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630293] Chr16:15724211 [GRCh38]
Chr16:15818068 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.4578+17G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003628935] Chr16:15721405 [GRCh38]
Chr16:15815262 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4527C>G (p.Leu1509=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629744] Chr16:15721473 [GRCh38]
Chr16:15815330 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5102G>A (p.Arg1701Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003513860] Chr16:15719289 [GRCh38]
Chr16:15813146 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5171+11G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629022] Chr16:15719209 [GRCh38]
Chr16:15813066 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4179dup (p.Lys1394fs) duplication Aortic aneurysm, familial thoracic 4 [RCV003514177] Chr16:15724346..15724347 [GRCh38]
Chr16:15818203..15818204 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5674G>A (p.Glu1892Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003779319]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528098] Chr16:15715021 [GRCh38]
Chr16:15808878 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5320G>A (p.Ala1774Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629838] Chr16:15717324 [GRCh38]
Chr16:15811181 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5461G>A (p.Ala1821Thr) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629737] Chr16:15717183 [GRCh38]
Chr16:15811040 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4953+19T>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629866] Chr16:15720132 [GRCh38]
Chr16:15813989 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4791+11C>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003628947] Chr16:15720828 [GRCh38]
Chr16:15814685 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4733G>A (p.Arg1578Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630044] Chr16:15720897 [GRCh38]
Chr16:15814754 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4448C>A (p.Thr1483Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630374] Chr16:15721552 [GRCh38]
Chr16:15815409 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5142A>G (p.Ala1714=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630381] Chr16:15719249 [GRCh38]
Chr16:15813106 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4953+14G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003628999] Chr16:15720137 [GRCh38]
Chr16:15813994 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5314G>C (p.Glu1772Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629871] Chr16:15717330 [GRCh38]
Chr16:15811187 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5499G>A (p.Glu1833=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629287]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528102] Chr16:15717145 [GRCh38]
Chr16:15811002 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5482G>A (p.Glu1828Lys) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629288]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528103] Chr16:15717162 [GRCh38]
Chr16:15811019 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5613+18G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629086] Chr16:15715146 [GRCh38]
Chr16:15809003 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4745C>A (p.Ala1582Asp) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630442] Chr16:15720885 [GRCh38]
Chr16:15814742 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5061A>C (p.Ala1687=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629325] Chr16:15719606 [GRCh38]
Chr16:15813463 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4366-10T>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629290]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528123] Chr16:15721644 [GRCh38]
Chr16:15815501 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh38/hg38 16p13.11(chr16:15399656-16194269) copy number loss Autism spectrum disorder [RCV003883417] Chr16:15399656..16194269 [GRCh38]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.5295+17C>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003875982] Chr16:15718298 [GRCh38]
Chr16:15812155 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5614-5G>C single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629453] Chr16:15715086 [GRCh38]
Chr16:15808943 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5171+3A>G single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003514138] Chr16:15719217 [GRCh38]
Chr16:15813074 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5635G>T (p.Val1879Phe) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630526] Chr16:15715060 [GRCh38]
Chr16:15808917 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5323A>G (p.Thr1775Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630532] Chr16:15717321 [GRCh38]
Chr16:15811178 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4390T>G (p.Ser1464Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630164] Chr16:15721610 [GRCh38]
Chr16:15815467 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5215G>C (p.Ala1739Pro) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003630990] Chr16:15718395 [GRCh38]
Chr16:15812252 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4953+17G>A single nucleotide variant not provided [RCV003740563] Chr16:15720134 [GRCh38]
Chr16:15813991 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4324C>G (p.Leu1442Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003836016] Chr16:15724202 [GRCh38]
Chr16:15818059 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.3963+1G>T single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003631007] Chr16:15724887 [GRCh38]
Chr16:15818744 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_002474.3(MYH11):c.5700C>T (p.Arg1900=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003817468] Chr16:15714995 [GRCh38]
Chr16:15808852 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4469G>A (p.Arg1490Gln) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003816923] Chr16:15721531 [GRCh38]
Chr16:15815388 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4799A>G (p.Glu1600Gly) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003837644] Chr16:15720305 [GRCh38]
Chr16:15814162 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5385G>C (p.Lys1795Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003836228] Chr16:15717259 [GRCh38]
Chr16:15811116 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_017668.3(NDE1):c.348G>A (p.Glu116=) single nucleotide variant not provided [RCV003559793] Chr16:15677911 [GRCh38]
Chr16:15771768 [GRCh37]
Chr16:16p13.11		 likely benign
NM_017668.3(NDE1):c.555G>A (p.Lys185=) single nucleotide variant not provided [RCV003559414] Chr16:15691175 [GRCh38]
Chr16:15785032 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4506C>G (p.Leu1502=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003812051] Chr16:15721494 [GRCh38]
Chr16:15815351 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4104T>A (p.Thr1368=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003833008] Chr16:15724659 [GRCh38]
Chr16:15818516 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4020G>A (p.Gln1340=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003837807] Chr16:15724743 [GRCh38]
Chr16:15818600 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5280C>A (p.Arg1760=) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003832250] Chr16:15718330 [GRCh38]
Chr16:15812187 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.5296-20G>A single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003870717] Chr16:15717368 [GRCh38]
Chr16:15811225 [GRCh37]
Chr16:16p13.11		 likely benign
NM_002474.3(MYH11):c.4202T>A (p.Ile1401Asn) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003853865] Chr16:15724324 [GRCh38]
Chr16:15818181 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15126890-16289059)x3 copy number gain not specified [RCV003986319] Chr16:15126890..16289059 [GRCh37]
Chr16:16p13.11		 likely pathogenic|low penetrance
NM_002474.3(MYH11):c.4845A>G (p.Ala1615=) single nucleotide variant not provided [RCV003736505] Chr16:15720259 [GRCh38]
Chr16:15814116 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15516148-16289059)x3 copy number gain not specified [RCV003986318] Chr16:15516148..16289059 [GRCh37]
Chr16:16p13.11		 likely pathogenic|low penetrance
GRCh37/hg19 16p13.11(chr16:14892713-16544419)x3 copy number gain not specified [RCV003987171] Chr16:14892713..16544419 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3 copy number gain not specified [RCV003987170] Chr16:14866283..16544419 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14906734-16516109)x3 copy number gain not specified [RCV003987137] Chr16:14906734..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16494783)x3 copy number gain not specified [RCV003987147] Chr16:14892880..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.3863A>C (p.Glu1288Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003821239] Chr16:15724988 [GRCh38]
Chr16:15818845 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.4284G>A (p.Glu1428=) single nucleotide variant MYH11-related condition [RCV003898955] Chr16:15724242 [GRCh38]
Chr16:15818099 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14858860-16367932)x3 copy number gain not provided [RCV003885472] Chr16:14858860..16367932 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14927578-16481355)x1 copy number loss not provided [RCV003885473] Chr16:14927578..16481355 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_002474.3(MYH11):c.4712C>T (p.Ala1571Val) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003984895] Chr16:15720918 [GRCh38]
Chr16:15814775 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5679C>T (p.Ser1893=) single nucleotide variant MYH11-related condition [RCV003982240] Chr16:15715016 [GRCh38]
Chr16:15808873 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15458733-18188719)x1 copy number loss not provided [RCV003885475] Chr16:15458733..18188719 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_001040113.2(MYH11):c.*8+1G>A single nucleotide variant not provided [RCV003330027] Chr16:15708802 [GRCh38]
Chr16:15802659 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_002474.3(MYH11):c.5723A>C (p.Asp1908Ala) single nucleotide variant Aortic aneurysm, familial thoracic 4 [RCV003629247]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150620] Chr16:15714972 [GRCh38]
Chr16:15808829 [GRCh37]
Chr16:16p13.11		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR3196hsa-miR-3196Mirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:5784
Count of miRNA genes:1143
Interacting mature miRNAs:1423
Transcripts:ENST00000342673, ENST00000396353, ENST00000396354, ENST00000396355, ENST00000570727, ENST00000571896, ENST00000572503, ENST00000572756, ENST00000572967, ENST00000573203, ENST00000573694, ENST00000574109, ENST00000574163, ENST00000576502, ENST00000577101
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-5890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,800,542 - 15,800,723UniSTSGRCh37
Build 361615,708,043 - 15,708,224RGDNCBI36
Celera1615,481,019 - 15,481,200RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,193,964 - 15,194,145UniSTS
TNG Radiation Hybrid Map168521.0UniSTS
G10522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,797,367 - 15,797,756UniSTSGRCh37
Build 361615,704,868 - 15,705,257RGDNCBI36
Celera1615,477,844 - 15,478,233RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,190,789 - 15,191,178UniSTS
RH91407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,795,442 - 15,795,578UniSTSGRCh37
Build 361615,702,943 - 15,703,079RGDNCBI36
Celera1615,475,919 - 15,476,055RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,188,863 - 15,188,999UniSTS
GeneMap99-GB4 RH Map16177.37UniSTS
RH79576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,819,953 - 15,820,169UniSTSGRCh37
Build 361615,727,454 - 15,727,670RGDNCBI36
Celera1615,500,439 - 15,500,655RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,213,385 - 15,213,601UniSTS
RH64988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,820,048 - 15,820,199UniSTSGRCh37
Build 361615,727,549 - 15,727,700RGDNCBI36
Celera1615,500,534 - 15,500,685RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,213,480 - 15,213,631UniSTS
Myh11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,809,030 - 15,809,129UniSTSGRCh37
GRCh371615,917,116 - 15,917,266UniSTSGRCh37
Build 361615,716,531 - 15,716,630RGDNCBI36
Celera1615,489,516 - 15,489,615RGD
Celera1615,597,603 - 15,597,753UniSTS
HuRef1615,310,629 - 15,310,779UniSTS
HuRef1615,202,461 - 15,202,560UniSTS
WI-11470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,795,622 - 15,795,728UniSTSGRCh37
Build 361615,703,123 - 15,703,229RGDNCBI36
Celera1615,476,099 - 15,476,205RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,189,043 - 15,189,149UniSTS
GeneMap99-GB4 RH Map16170.28UniSTS
Whitehead-RH Map1672.7UniSTS
NCBI RH Map16139.9UniSTS
SHGC-61040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,797,118 - 15,797,293UniSTSGRCh37
Build 361615,704,619 - 15,704,794RGDNCBI36
Celera1615,477,595 - 15,477,770RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,190,540 - 15,190,715UniSTS
TNG Radiation Hybrid Map168534.0UniSTS
GeneMap99-GB4 RH Map16173.51UniSTS
NCBI RH Map16139.9UniSTS
RH69889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,797,631 - 15,797,753UniSTSGRCh37
Build 361615,705,132 - 15,705,254RGDNCBI36
Celera1615,478,108 - 15,478,230RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,191,053 - 15,191,175UniSTS
GeneMap99-GB4 RH Map16177.45UniSTS
NCBI RH Map16139.9UniSTS
SHGC-60785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,818,204 - 15,818,354UniSTSGRCh37
Build 361615,725,705 - 15,725,855RGDNCBI36
Celera1615,498,690 - 15,498,840RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,211,636 - 15,211,786UniSTS
GeneMap99-GB4 RH Map16170.28UniSTS
Whitehead-RH Map1672.5UniSTS
NCBI RH Map16139.9UniSTS
D16S3302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,797,849 - 15,797,958UniSTSGRCh37
Build 361615,705,350 - 15,705,459RGDNCBI36
Celera1615,478,326 - 15,478,435RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,191,271 - 15,191,380UniSTS
NDE1__6219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,818,125 - 15,818,968UniSTSGRCh37
Build 361615,725,626 - 15,726,469RGDNCBI36
Celera1615,498,611 - 15,499,454RGD
HuRef1615,211,557 - 15,212,400UniSTS
Myh11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,809,030 - 15,809,129UniSTSGRCh37
GRCh371615,917,116 - 15,917,266UniSTSGRCh37
Build 361615,716,531 - 15,716,630RGDNCBI36
Celera1615,489,516 - 15,489,615RGD
Celera1615,597,603 - 15,597,753UniSTS
HuRef1615,310,629 - 15,310,779UniSTS
HuRef1615,202,461 - 15,202,560UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1500 936 65 60 1450 33 2288 799 905 100 947 544 40 89 1414
Low 932 2046 1644 548 498 417 2067 1392 2801 316 501 1064 131 1115 1374 4
Below cutoff 1 2 14 14 14 2 5 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC026401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF124431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP271845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000396354   ⟹   ENSP00000379642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,650,245 - 15,726,353 (+)Ensembl
RefSeq Acc Id: ENST00000396355   ⟹   ENSP00000379643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,643,267 - 15,726,353 (+)Ensembl
RefSeq Acc Id: ENST00000570727   ⟹   ENSP00000459889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,650,247 - 15,677,944 (+)Ensembl
RefSeq Acc Id: ENST00000572503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,721,493 - 15,724,291 (+)Ensembl
RefSeq Acc Id: ENST00000572756   ⟹   ENSP00000460436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,664,779 - 15,724,248 (+)Ensembl
RefSeq Acc Id: ENST00000572967   ⟹   ENSP00000459918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,691,242 - 15,724,222 (+)Ensembl
RefSeq Acc Id: ENST00000573203   ⟹   ENSP00000460996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,650,257 - 15,691,219 (+)Ensembl
RefSeq Acc Id: ENST00000573694   ⟹   ENSP00000459863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,691,163 - 15,724,222 (+)Ensembl
RefSeq Acc Id: ENST00000574109   ⟹   ENSP00000459875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,687,427 - 15,699,930 (+)Ensembl
RefSeq Acc Id: ENST00000574163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,672,663 - 15,687,468 (+)Ensembl
RefSeq Acc Id: ENST00000576502   ⟹   ENSP00000461748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,691,200 - 15,700,491 (+)Ensembl
RefSeq Acc Id: ENST00000577101   ⟹   ENSP00000461729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,664,779 - 15,726,353 (+)Ensembl
RefSeq Acc Id: ENST00000674538   ⟹   ENSP00000501547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,650,228 - 15,733,209 (+)Ensembl
RefSeq Acc Id: ENST00000674554   ⟹   ENSP00000502635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,650,263 - 15,732,947 (+)Ensembl
RefSeq Acc Id: ENST00000674581   ⟹   ENSP00000502100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,650,263 - 15,726,353 (+)Ensembl
RefSeq Acc Id: ENST00000674588   ⟹   ENSP00000502802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,650,228 - 15,734,462 (+)Ensembl
RefSeq Acc Id: ENST00000674888   ⟹   ENSP00000501936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,643,611 - 15,732,947 (+)Ensembl
RefSeq Acc Id: ENST00000674900   ⟹   ENSP00000502662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,650,227 - 15,732,947 (+)Ensembl
RefSeq Acc Id: ENST00000674995   ⟹   ENSP00000502414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,650,263 - 15,734,691 (+)Ensembl
RefSeq Acc Id: ENST00000675171   ⟹   ENSP00000501812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,650,208 - 15,732,947 (+)Ensembl
RefSeq Acc Id: ENST00000675926   ⟹   ENSP00000502354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,650,247 - 15,732,947 (+)Ensembl
RefSeq Acc Id: ENST00000675951   ⟹   ENSP00000502160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,650,212 - 15,734,462 (+)Ensembl
RefSeq Acc Id: NM_001143979   ⟹   NP_001137451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,643,382 - 15,726,353 (+)NCBI
GRCh371615,737,124 - 15,820,210 (+)ENTREZGENE
HuRef1615,130,950 - 15,213,642 (+)ENTREZGENE
CHM1_11615,821,504 - 15,904,590 (+)NCBI
T2T-CHM13v2.01615,648,287 - 15,731,290 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017668   ⟹   NP_060138
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,245 - 15,726,353 (+)NCBI
GRCh371615,737,124 - 15,820,210 (+)ENTREZGENE
Build 361615,651,605 - 15,726,491 (+)NCBI Archive
HuRef1615,130,950 - 15,213,642 (+)ENTREZGENE
CHM1_11615,828,463 - 15,904,590 (+)NCBI
T2T-CHM13v2.01615,655,151 - 15,731,290 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255396   ⟹   XP_005255453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,245 - 15,697,119 (+)NCBI
GRCh371615,737,124 - 15,820,210 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720897   ⟹   XP_006720960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,643,382 - 15,697,119 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720900   ⟹   XP_006720963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,652,016 - 15,697,119 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023349   ⟹   XP_016878838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,245 - 15,701,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023350   ⟹   XP_016878839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,245 - 15,697,121 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023352   ⟹   XP_016878841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,245 - 15,699,685 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023353   ⟹   XP_016878842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,245 - 15,701,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023354   ⟹   XP_016878843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,245 - 15,701,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023355   ⟹   XP_016878844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,245 - 15,699,877 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023357   ⟹   XP_016878846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,672,409 - 15,697,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434258   ⟹   XP_047290214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,643,382 - 15,697,122 (+)NCBI
RefSeq Acc Id: XM_047434259   ⟹   XP_047290215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,643,382 - 15,701,914 (+)NCBI
RefSeq Acc Id: XM_047434260   ⟹   XP_047290216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,643,382 - 15,699,685 (+)NCBI
RefSeq Acc Id: XM_047434261   ⟹   XP_047290217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,643,382 - 15,701,914 (+)NCBI
RefSeq Acc Id: XM_047434262   ⟹   XP_047290218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,649,447 - 15,697,119 (+)NCBI
RefSeq Acc Id: XM_047434263   ⟹   XP_047290219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,245 - 15,701,914 (+)NCBI
RefSeq Acc Id: XM_047434264   ⟹   XP_047290220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,643,382 - 15,699,877 (+)NCBI
RefSeq Acc Id: XM_047434265   ⟹   XP_047290221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,245 - 15,701,914 (+)NCBI
RefSeq Acc Id: XM_047434266   ⟹   XP_047290222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,245 - 15,699,877 (+)NCBI
RefSeq Acc Id: XM_047434267   ⟹   XP_047290223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,643,382 - 15,692,166 (+)NCBI
RefSeq Acc Id: XM_047434268   ⟹   XP_047290224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,245 - 15,692,164 (+)NCBI
RefSeq Acc Id: XM_054380536   ⟹   XP_054236511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,655,151 - 15,702,051 (+)NCBI
RefSeq Acc Id: XM_054380537   ⟹   XP_054236512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,655,151 - 15,706,845 (+)NCBI
RefSeq Acc Id: XM_054380538   ⟹   XP_054236513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,648,287 - 15,702,051 (+)NCBI
RefSeq Acc Id: XM_054380539   ⟹   XP_054236514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,648,287 - 15,702,054 (+)NCBI
RefSeq Acc Id: XM_054380540   ⟹   XP_054236515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,648,287 - 15,706,845 (+)NCBI
RefSeq Acc Id: XM_054380541   ⟹   XP_054236516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,655,151 - 15,706,845 (+)NCBI
RefSeq Acc Id: XM_054380542   ⟹   XP_054236517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,648,287 - 15,704,617 (+)NCBI
RefSeq Acc Id: XM_054380543   ⟹   XP_054236518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,648,287 - 15,706,845 (+)NCBI
RefSeq Acc Id: XM_054380544   ⟹   XP_054236519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,656,922 - 15,702,051 (+)NCBI
RefSeq Acc Id: XM_054380545   ⟹   XP_054236520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,654,353 - 15,702,051 (+)NCBI
RefSeq Acc Id: XM_054380546   ⟹   XP_054236521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,655,151 - 15,702,053 (+)NCBI
RefSeq Acc Id: XM_054380547   ⟹   XP_054236522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,655,151 - 15,706,845 (+)NCBI
RefSeq Acc Id: XM_054380548   ⟹   XP_054236523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,655,151 - 15,704,617 (+)NCBI
RefSeq Acc Id: XM_054380549   ⟹   XP_054236524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,648,287 - 15,704,809 (+)NCBI
RefSeq Acc Id: XM_054380550   ⟹   XP_054236525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,655,151 - 15,706,845 (+)NCBI
RefSeq Acc Id: XM_054380551   ⟹   XP_054236526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,655,151 - 15,706,845 (+)NCBI
RefSeq Acc Id: XM_054380552   ⟹   XP_054236527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,655,151 - 15,706,845 (+)NCBI
RefSeq Acc Id: XM_054380553   ⟹   XP_054236528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,655,151 - 15,704,809 (+)NCBI
RefSeq Acc Id: XM_054380554   ⟹   XP_054236529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01615,677,312 - 15,702,057 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001137451 (Get FASTA)   NCBI Sequence Viewer  
  NP_060138 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255453 (Get FASTA)   NCBI Sequence Viewer  
  XP_006720960 (Get FASTA)   NCBI Sequence Viewer  
  XP_006720963 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878838 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878839 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878841 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878842 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878843 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878844 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878846 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290214 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290215 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290216 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290217 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290218 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290219 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290220 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290221 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290222 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290223 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290224 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185078 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185079 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185080 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185081 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185082 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185083 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185084 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185085 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185086 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185087 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185088 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185089 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185090 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185091 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185092 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185093 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185094 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185095 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185096 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185097 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236511 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236512 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236513 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236514 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236515 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236516 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236517 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236518 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236519 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236520 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236521 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236522 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236523 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236524 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236525 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236526 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236527 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236528 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236529 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01421 (Get FASTA)   NCBI Sequence Viewer  
  AAH33900 (Get FASTA)   NCBI Sequence Viewer  
  ADO22196 (Get FASTA)   NCBI Sequence Viewer  
  AHW56527 (Get FASTA)   NCBI Sequence Viewer  
  AHW56607 (Get FASTA)   NCBI Sequence Viewer  
  AHW56631 (Get FASTA)   NCBI Sequence Viewer  
  AHW56667 (Get FASTA)   NCBI Sequence Viewer  
  BAA90949 (Get FASTA)   NCBI Sequence Viewer  
  EAW53931 (Get FASTA)   NCBI Sequence Viewer  
  EAW53932 (Get FASTA)   NCBI Sequence Viewer  
  EAW53933 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000379642
  ENSP00000379642.1
  ENSP00000379643
  ENSP00000379643.1
  ENSP00000459863.1
  ENSP00000459875.1
  ENSP00000459889.1
  ENSP00000459918.1
  ENSP00000460436
  ENSP00000460436.2
  ENSP00000460996.1
  ENSP00000461729.2
  ENSP00000461748.1
  ENSP00000487625.1
  ENSP00000487642.1
  ENSP00000487817.1
  ENSP00000488050.1
  ENSP00000488199.1
  ENSP00000488454.1
  ENSP00000488637.1
  ENSP00000488694.1
  ENSP00000488828.1
  ENSP00000488895.1
  ENSP00000501547.1
  ENSP00000501812.1
  ENSP00000501936.1
  ENSP00000502100.1
  ENSP00000502160.1
  ENSP00000502354.1
  ENSP00000502414.1
  ENSP00000502635.1
  ENSP00000502662.1
  ENSP00000502802.1
GenBank Protein Q9NXR1 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001137451   ⟸   NM_001143979
- UniProtKB: Q49AQ2 (UniProtKB/Swiss-Prot),   Q9NXR1 (UniProtKB/Swiss-Prot),   X5DR54 (UniProtKB/TrEMBL),   A0A6Q8PGV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_060138   ⟸   NM_017668
- UniProtKB: Q49AQ2 (UniProtKB/Swiss-Prot),   Q9NXR1 (UniProtKB/Swiss-Prot),   X5DR54 (UniProtKB/TrEMBL),   A0A6Q8PGV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005255453   ⟸   XM_005255396
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006720960   ⟸   XM_006720897
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006720963   ⟸   XM_006720900
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016878842   ⟸   XM_017023353
- Peptide Label: isoform X6
- UniProtKB: I3L3G9 (UniProtKB/TrEMBL),   X5DRB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878838   ⟸   XM_017023349
- Peptide Label: isoform X2
- UniProtKB: Q9NXR1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878843   ⟸   XM_017023354
- Peptide Label: isoform X13
- UniProtKB: I3L3G9 (UniProtKB/TrEMBL),   X5DRB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878844   ⟸   XM_017023355
- Peptide Label: isoform X16
- UniProtKB: I3L3G9 (UniProtKB/TrEMBL),   X5DRB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878841   ⟸   XM_017023352
- Peptide Label: isoform X11
- UniProtKB: X5DP35 (UniProtKB/TrEMBL),   A0A6Q8PG46 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878839   ⟸   XM_017023350
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016878846   ⟸   XM_017023357
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: ENSP00000459889   ⟸   ENST00000570727
RefSeq Acc Id: ENSP00000459918   ⟸   ENST00000572967
RefSeq Acc Id: ENSP00000460436   ⟸   ENST00000572756
RefSeq Acc Id: ENSP00000459863   ⟸   ENST00000573694
RefSeq Acc Id: ENSP00000460996   ⟸   ENST00000573203
RefSeq Acc Id: ENSP00000459875   ⟸   ENST00000574109
RefSeq Acc Id: ENSP00000461748   ⟸   ENST00000576502
RefSeq Acc Id: ENSP00000461729   ⟸   ENST00000577101
RefSeq Acc Id: ENSP00000379643   ⟸   ENST00000396355
RefSeq Acc Id: ENSP00000379642   ⟸   ENST00000396354
RefSeq Acc Id: ENSP00000502662   ⟸   ENST00000674900
RefSeq Acc Id: ENSP00000502414   ⟸   ENST00000674995
RefSeq Acc Id: ENSP00000501936   ⟸   ENST00000674888
RefSeq Acc Id: ENSP00000502100   ⟸   ENST00000674581
RefSeq Acc Id: ENSP00000502802   ⟸   ENST00000674588
RefSeq Acc Id: ENSP00000501547   ⟸   ENST00000674538
RefSeq Acc Id: ENSP00000502635   ⟸   ENST00000674554
RefSeq Acc Id: ENSP00000502160   ⟸   ENST00000675951
RefSeq Acc Id: ENSP00000502354   ⟸   ENST00000675926
RefSeq Acc Id: ENSP00000501812   ⟸   ENST00000675171
RefSeq Acc Id: XP_047290217   ⟸   XM_047434261
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047290215   ⟸   XM_047434259
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047290220   ⟸   XM_047434264
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047290216   ⟸   XM_047434260
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047290214   ⟸   XM_047434258
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047290223   ⟸   XM_047434267
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047290218   ⟸   XM_047434262
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047290219   ⟸   XM_047434263
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047290221   ⟸   XM_047434265
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047290222   ⟸   XM_047434266
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047290224   ⟸   XM_047434268
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054236518   ⟸   XM_054380543
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054236515   ⟸   XM_054380540
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054236524   ⟸   XM_054380549
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054236517   ⟸   XM_054380542
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054236514   ⟸   XM_054380539
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054236513   ⟸   XM_054380538
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054236520   ⟸   XM_054380545
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236516   ⟸   XM_054380541
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054236512   ⟸   XM_054380537
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236525   ⟸   XM_054380550
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054236526   ⟸   XM_054380551
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054236522   ⟸   XM_054380547
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054236527   ⟸   XM_054380552
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054236528   ⟸   XM_054380553
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054236523   ⟸   XM_054380548
- Peptide Label: isoform X11
- UniProtKB: X5DP35 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054236521   ⟸   XM_054380546
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054236511   ⟸   XM_054380536
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236519   ⟸   XM_054380544
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236529   ⟸   XM_054380554
- Peptide Label: isoform X19
Protein Domains
NUDE

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NXR1-F1-model_v2 AlphaFold Q9NXR1 1-335 view protein structure

Promoters
RGD ID:7231409
Promoter ID:EPDNEW_H21450
Type:initiation region
Name:NDE1_1
Description:nudE neurodevelopment protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,650,247 - 15,650,307EPDNEW
RGD ID:6793306
Promoter ID:HG_KWN:23120
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000396354
Position:
Human AssemblyChrPosition (strand)Source
Build 361615,651,311 - 15,651,812 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17619 AgrOrtholog
COSMIC NDE1 COSMIC
Ensembl Genes ENSG00000072864 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000275911 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000396354 ENTREZGENE
  ENST00000396354.6 UniProtKB/Swiss-Prot
  ENST00000396355 ENTREZGENE
  ENST00000396355.5 UniProtKB/Swiss-Prot
  ENST00000570727.5 UniProtKB/TrEMBL
  ENST00000572756 ENTREZGENE
  ENST00000572756.6 UniProtKB/TrEMBL
  ENST00000572967.1 UniProtKB/TrEMBL
  ENST00000573203.5 UniProtKB/TrEMBL
  ENST00000573694.5 UniProtKB/TrEMBL
  ENST00000574109.5 UniProtKB/TrEMBL
  ENST00000576502.5 UniProtKB/TrEMBL
  ENST00000577101.6 UniProtKB/TrEMBL
  ENST00000631507.1 UniProtKB/TrEMBL
  ENST00000631789.1 UniProtKB/TrEMBL
  ENST00000631844.1 UniProtKB/Swiss-Prot
  ENST00000631923.1 UniProtKB/Swiss-Prot
  ENST00000632288.1 UniProtKB/TrEMBL
  ENST00000632452.1 UniProtKB/TrEMBL
  ENST00000632578.1 UniProtKB/TrEMBL
  ENST00000632668.1 UniProtKB/TrEMBL
  ENST00000633132.1 UniProtKB/TrEMBL
  ENST00000634195.1 UniProtKB/TrEMBL
  ENST00000674538.1 UniProtKB/TrEMBL
  ENST00000674554.1 UniProtKB/Swiss-Prot
  ENST00000674581.1 UniProtKB/TrEMBL
  ENST00000674588.1 UniProtKB/TrEMBL
  ENST00000674888.1 UniProtKB/Swiss-Prot
  ENST00000674900.1 UniProtKB/TrEMBL
  ENST00000674995.1 UniProtKB/TrEMBL
  ENST00000675171.1 UniProtKB/TrEMBL
  ENST00000675926.1 UniProtKB/Swiss-Prot
  ENST00000675951.1 UniProtKB/Swiss-Prot
Gene3D-CATH 6.10.250.1080 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000072864 GTEx
  ENSG00000275911 GTEx
HGNC ID HGNC:17619 ENTREZGENE
Human Proteome Map NDE1 Human Proteome Map
InterPro NUDE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUDE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54820 ENTREZGENE
OMIM 609449 OMIM
PANTHER NUCLEAR DISTRIBUTION PROTEIN NUDE HOMOLOG 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10921 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NUDE_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394673 PharmGKB
UniProt A0A0J9YY14_HUMAN UniProtKB/TrEMBL
  A0A0J9YYF5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PEY3_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG46 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PGV6 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PHH1_HUMAN UniProtKB/TrEMBL
  I3L2R3_HUMAN UniProtKB/TrEMBL
  I3L2R9_HUMAN UniProtKB/TrEMBL
  I3L2S8_HUMAN UniProtKB/TrEMBL
  I3L2T8_HUMAN UniProtKB/TrEMBL
  I3L3G9 ENTREZGENE, UniProtKB/TrEMBL
  I3L464_HUMAN UniProtKB/TrEMBL
  I3L522_HUMAN UniProtKB/TrEMBL
  I3L533_HUMAN UniProtKB/TrEMBL
  L8E8T4_HUMAN UniProtKB/TrEMBL
  NDE1_HUMAN UniProtKB/Swiss-Prot
  Q49AQ2 ENTREZGENE
  Q9NXR1 ENTREZGENE
  X5DP35 ENTREZGENE, UniProtKB/TrEMBL
  X5DR54 ENTREZGENE, UniProtKB/TrEMBL
  X5DRB5 ENTREZGENE
  X5DRF9_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q49AQ2 UniProtKB/Swiss-Prot
  X5DRB5 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-23 NDE1  nudE neurodevelopment protein 1  MHAC  microhydranencephaly  Data merged from RGD:1344260 737654 PROVISIONAL
2013-08-13 NDE1  nudE neurodevelopment protein 1  NDE1  nudE nuclear distribution E homolog 1 (A. nidulans)  Symbol and/or name change 5135510 APPROVED
2012-03-01 NDE1  nudE nuclear distribution E homolog 1 (A. nidulans)  NDE1  nudE nuclear distribution gene E homolog 1 (A. nidulans)  Symbol and/or name change 5135510 APPROVED