ADGRG1 (adhesion G protein-coupled receptor G1) - Rat Genome Database

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Gene: ADGRG1 (adhesion G protein-coupled receptor G1) Homo sapiens
Analyze
Symbol: ADGRG1
Name: adhesion G protein-coupled receptor G1
RGD ID: 1352005
HGNC Page HGNC:4512
Description: Enables heparin binding activity. Involved in several processes, including Rho protein signal transduction; phospholipase C-activating G protein-coupled receptor signaling pathway; and positive regulation of vascular endothelial growth factor signaling pathway. Located in extracellular exosome. Implicated in bilateral frontoparietal polymicrogyria and bilateral perisylvian polymicrogyria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 7-transmembrane protein with no EGF-like N-terminal domains-1; adhesion G-protein coupled receptor G1; BFPP; BPPR; CDCBM14B; CDCBM15A; DKFZp781L1398; EGF-TM7-like; G protein-coupled receptor 56; G-protein coupled receptor 56; GPR56; testicular tissue protein Li 77; TM7LN4; TM7XN1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381657,619,738 - 57,665,567 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1657,610,652 - 57,665,580 (+)EnsemblGRCh38hg38GRCh38
GRCh371657,653,650 - 57,699,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361656,211,459 - 56,256,445 (+)NCBINCBI36Build 36hg18NCBI36
Build 341656,220,022 - 56,256,438NCBI
Celera1642,155,129 - 42,200,163 (+)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1643,521,500 - 43,566,585 (+)NCBIHuRef
CHM1_11659,061,969 - 59,107,000 (+)NCBICHM1_1
T2T-CHM13v2.01663,414,941 - 63,460,767 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
17beta-estradiol  (EXP,ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrolein  (EXP)
acrylamide  (EXP,ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atazanavir sulfate  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
butan-1-ol  (EXP)
calcitriol  (EXP)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chlorpyrifos  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
corosolic acid  (EXP)
cortisol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
deoxycholic acid  (EXP)
Dibutyl phosphate  (EXP)
dimethylarsinic acid  (ISO)
diquat  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzacamene  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
fipronil  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
hydrazine  (ISO)
inulin  (ISO)
iron atom  (EXP)
iron(0)  (EXP)
isobutanol  (EXP)
Lasiocarpine  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
maneb  (ISO)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
mifepristone  (EXP)
mitomycin C  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N(4)-hydroxycytidine  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (EXP)
nickel atom  (EXP)
nickel sulfate  (EXP)
nicotine  (EXP)
nitrates  (ISO)
O-methyleugenol  (EXP)
ozone  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
quercetin  (EXP)
quercitrin  (EXP)
raloxifene  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sotorasib  (EXP)
sulforaphane  (EXP)
Sunset Yellow FCF  (EXP)
tamoxifen  (EXP)
tartrazine  (EXP)
temozolomide  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
trametinib  (EXP)
trichloroethene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (EXP)
tungsten  (ISO)
valproic acid  (EXP)
vitamin D  (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
Abnormal cerebellum morphology  (IAGP)
Abnormal cerebral morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of masticatory muscle  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the nervous system  (IAGP)
Ankle clonus  (IAGP)
Apnea  (IAGP)
Aspiration  (IAGP)
Atonic seizure  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral perisylvian polymicrogyria  (IAGP)
Bilateral tonic-clonic seizure with generalized onset  (IAGP)
Broad-based gait  (IAGP)
Cerebellar dysplasia  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral dysmyelination  (IAGP)
Choanal atresia  (IAGP)
Congenital onset  (IAGP)
Cortical dysplasia  (IAGP)
Delayed speech and language development  (IAGP)
Distal arthrogryposis  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Ectopic posterior pituitary  (IAGP)
EEG with central focal spikes  (IAGP)
EEG with frontal focal spikes  (IAGP)
EEG with parietal focal spikes  (IAGP)
EEG with polyspike wave complexes  (IAGP)
Esotropia  (IAGP)
Exotropia  (IAGP)
Facial diplegia  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
Focal sensory seizure  (IAGP)
Focal-onset seizure  (IAGP)
Frontal polymicrogyria  (IAGP)
Gait imbalance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized weakness of limb muscles  (IAGP)
Generalized-onset seizure  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the pons  (IAGP)
Increased head circumference  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Language impairment  (IAGP)
Limb hypertonia  (IAGP)
Lower limb spasticity  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Motor delay  (IAGP)
Nystagmus  (IAGP)
Oromotor apraxia  (IAGP)
Pachygyria  (IAGP)
Paraparesis  (IAGP)
Pectus excavatum  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Perisylvian predominant thick cortex pachygyria  (IAGP)
Protruding tongue  (IAGP)
Pseudobulbar paralysis  (IAGP)
Seizure  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Truncal ataxia  (IAGP)
Typical absence seizure  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Weakness of facial musculature  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GPR56, a novel secretin-like human G-protein-coupled receptor gene. Liu M, etal., Genomics 1999 Feb 1;55(3):296-305.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10100861   PMID:11845408   PMID:12477932   PMID:12975309   PMID:15004227   PMID:15044805   PMID:15340161   PMID:15489334   PMID:15674329   PMID:15916848   PMID:16303743   PMID:16344560  
PMID:16757564   PMID:17192395   PMID:17314516   PMID:17932623   PMID:18042463   PMID:19016831   PMID:19490893   PMID:19525879   PMID:19572147   PMID:20008459   PMID:20301504   PMID:20424473  
PMID:20874003   PMID:21349848   PMID:21708946   PMID:21723461   PMID:21724588   PMID:21724806   PMID:21873635   PMID:22238662   PMID:23274687   PMID:23376485   PMID:23478665   PMID:23533145  
PMID:23902976   PMID:24102982   PMID:24531968   PMID:24561123   PMID:24742924   PMID:25547674   PMID:25713288   PMID:25832639   PMID:25918380   PMID:26116532   PMID:26710850   PMID:26834243  
PMID:26871637   PMID:27063597   PMID:27068534   PMID:27184850   PMID:27396430   PMID:27818281   PMID:27881002   PMID:28258187   PMID:28298427   PMID:28424266   PMID:28611215   PMID:28690029  
PMID:28756000   PMID:28874577   PMID:29166609   PMID:29367382   PMID:29855662   PMID:30066935   PMID:30214063   PMID:30511534   PMID:30982090   PMID:31444231   PMID:31527615   PMID:32242018  
PMID:32798453   PMID:32856858   PMID:32881870   PMID:33037308   PMID:33054093   PMID:33097663   PMID:33299078   PMID:33837725   PMID:33845483   PMID:33961781   PMID:34224919   PMID:34464351  
PMID:34654683   PMID:34944065   PMID:35696571   PMID:35831277   PMID:36215168   PMID:36402131   PMID:36979492   PMID:37056198   PMID:37259271   PMID:37579299   PMID:37621135   PMID:38809082  
PMID:38840413   PMID:39320215  


Genomics

Comparative Map Data
ADGRG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381657,619,738 - 57,665,567 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1657,610,652 - 57,665,580 (+)EnsemblGRCh38hg38GRCh38
GRCh371657,653,650 - 57,699,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361656,211,459 - 56,256,445 (+)NCBINCBI36Build 36hg18NCBI36
Build 341656,220,022 - 56,256,438NCBI
Celera1642,155,129 - 42,200,163 (+)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1643,521,500 - 43,566,585 (+)NCBIHuRef
CHM1_11659,061,969 - 59,107,000 (+)NCBICHM1_1
T2T-CHM13v2.01663,414,941 - 63,460,767 (+)NCBIT2T-CHM13v2.0
Adgrg1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39895,701,321 - 95,740,836 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl895,701,379 - 95,740,845 (+)EnsemblGRCm39 Ensembl
GRCm38894,974,756 - 95,014,208 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl894,974,751 - 95,014,217 (+)EnsemblGRCm38mm10GRCm38
MGSCv37897,508,503 - 97,538,091 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36897,873,732 - 97,903,320 (+)NCBIMGSCv36mm8
Celera899,309,115 - 99,341,094 (+)NCBICelera
Cytogenetic Map8C5NCBI
cM Map847.12NCBI
Adgrg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81910,009,983 - 10,047,138 (-)NCBIGRCr8
mRatBN7.21910,003,963 - 10,041,122 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1910,003,975 - 10,041,108 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx199,968,201 - 10,005,273 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01910,735,039 - 10,772,116 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01910,021,858 - 10,058,994 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01910,423,534 - 10,460,674 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1910,423,501 - 10,460,674 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01910,403,001 - 10,442,286 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41910,438,332 - 10,475,607 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11910,443,185 - 10,480,433 (-)NCBI
Celera199,891,471 - 9,928,021 (-)NCBICelera
Cytogenetic Map19p13NCBI
Adgrg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543315,259,720 - 15,289,151 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543315,253,196 - 15,288,982 (+)NCBIChiLan1.0ChiLan1.0
ADGRG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21867,090,347 - 67,136,251 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11673,011,226 - 73,057,121 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01637,896,177 - 37,942,040 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11657,027,946 - 57,074,221 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1657,036,425 - 57,074,221 (+)Ensemblpanpan1.1panPan2
ADGRG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1258,805,737 - 58,842,618 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl258,805,834 - 58,852,684 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha255,435,490 - 55,472,410 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0259,344,120 - 59,381,257 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl259,344,129 - 59,381,633 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1256,175,783 - 56,212,651 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0257,183,275 - 57,220,434 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0258,076,631 - 58,113,771 (-)NCBIUU_Cfam_GSD_1.0
Adgrg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934949,905,813 - 49,935,816 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364759,671,868 - 9,681,988 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364759,653,233 - 9,683,258 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADGRG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl619,527,648 - 19,570,893 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1619,523,618 - 19,570,891 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2617,648,674 - 17,671,453 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADGRG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1543,559,792 - 43,595,906 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl543,570,189 - 43,596,087 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604732,602,512 - 32,646,023 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adgrg1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474628,436,895 - 28,476,926 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474628,439,855 - 28,476,551 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADGRG1
870 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_201525.4(ADGRG1):c.1167+3G>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000006182]|not provided [RCV001543585] Chr16:57656620 [GRCh38]
Chr16:57690532 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.621-1G>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000006183] Chr16:57653985 [GRCh38]
Chr16:57687897 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) deletion Bilateral frontoparietal polymicrogyria [RCV000006184]|not provided [RCV000351326] Chr16:57654103..57654109 [GRCh38]
Chr16:57688015..57688021 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp) single nucleotide variant Abnormality of the nervous system [RCV001813956]|Bilateral frontoparietal polymicrogyria [RCV000006185]|Inborn genetic diseases [RCV004018573]|not provided [RCV003565380] Chr16:57651247 [GRCh38]
Chr16:57685159 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic|uncertain significance
NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000006186] Chr16:57656244 [GRCh38]
Chr16:57690156 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000006187]|not provided [RCV000427813] Chr16:57661707 [GRCh38]
Chr16:57695619 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000006188]|not provided [RCV000308240] Chr16:57651407 [GRCh38]
Chr16:57685319 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.263A>G (p.Tyr88Cys) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000006189] Chr16:57651398 [GRCh38]
Chr16:57685310 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1486C>T (p.Arg496Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV003222356]|not provided [RCV001870658] Chr16:57659612 [GRCh38]
Chr16:57693524 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.304C>T (p.His102Tyr) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001271448]|not specified [RCV000516934] Chr16:57651439 [GRCh38]
Chr16:57685351 [GRCh37]
Chr16:16q21
uncertain significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2
pathogenic
NM_201525.4(ADGRG1):c.641C>T (p.Ser214Leu) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119170]|not provided [RCV000710139] Chr16:57654006 [GRCh38]
Chr16:57687918 [GRCh37]
Chr16:16q21
benign|likely benign|uncertain significance
NM_201525.4(ADGRG1):c.-35-8646A>C single nucleotide variant not specified [RCV000125255] Chr16:57641607 [GRCh38]
Chr16:57675519 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121163]|not provided [RCV000711844]|not specified [RCV000146060] Chr16:57655473 [GRCh38]
Chr16:57689385 [GRCh37]
Chr16:16q21
benign|likely benign|conflicting interpretations of pathogenicity
NM_201525.4(ADGRG1):c.1286+6G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117688]|not provided [RCV001512562]|not specified [RCV000146036] Chr16:57657497 [GRCh38]
Chr16:57691409 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117692]|not provided [RCV001511489]|not specified [RCV000146040] Chr16:57659586 [GRCh38]
Chr16:57693498 [GRCh37]
Chr16:16q21
benign|likely benign|conflicting interpretations of pathogenicity
NM_201525.4(ADGRG1):c.1555+15G>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119256]|not provided [RCV002055562]|not specified [RCV000146043] Chr16:57659696 [GRCh38]
Chr16:57693608 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1883C>T (p.Thr628Ile) single nucleotide variant not provided [RCV002001827] Chr16:57661915 [GRCh38]
Chr16:57695827 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.402G>T (p.Pro134=) single nucleotide variant not provided [RCV001494394] Chr16:57651537 [GRCh38]
Chr16:57685449 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1193T>C (p.Val398Ala) single nucleotide variant Inborn genetic diseases [RCV003343671]|not provided [RCV000174114] Chr16:57657398 [GRCh38]
Chr16:57691310 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001831999]|not provided [RCV000724281]|not specified [RCV000192665] Chr16:57663501 [GRCh38]
Chr16:57697413 [GRCh37]
Chr16:16q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.2040C>G (p.Gly680=) single nucleotide variant not provided [RCV000174909] Chr16:57663558 [GRCh38]
Chr16:57697470 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.1860C>T (p.Ile620=) single nucleotide variant not provided [RCV000174752] Chr16:57661892 [GRCh38]
Chr16:57695804 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001271476]|not provided [RCV000724280] Chr16:57661842 [GRCh38]
Chr16:57695754 [GRCh37]
Chr16:16q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.-11G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146030]|not specified [RCV000245287] Chr16:57650277 [GRCh38]
Chr16:57684189 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1017+8G>A single nucleotide variant ADGRG1-related disorder [RCV003975149]|Bilateral frontoparietal polymicrogyria [RCV001116243]|not provided [RCV000711837]|not specified [RCV000340915] Chr16:57656000 [GRCh38]
Chr16:57689912 [GRCh37]
Chr16:16q21
benign|likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1048G>A (p.Val350Ile) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146032]|not provided [RCV002515963] Chr16:57656256 [GRCh38]
Chr16:57690168 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1063+9G>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146033] Chr16:57656280 [GRCh38]
Chr16:57690192 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1168-20C>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001543035]|not provided [RCV001523602]|not specified [RCV000146034] Chr16:57657353 [GRCh38]
Chr16:57691265 [GRCh37]
Chr16:16q21
benign|likely benign|conflicting interpretations of pathogenicity
NM_201525.4(ADGRG1):c.1246C>T (p.Leu416=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146035]|not provided [RCV001401205] Chr16:57657451 [GRCh38]
Chr16:57691363 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1338C>T (p.Ala446=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117690]|not provided [RCV000957436]|not specified [RCV000146037] Chr16:57659464 [GRCh38]
Chr16:57693376 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146038]|Bilateral frontoparietal polymicrogyria [RCV000762976]|not provided [RCV000806491] Chr16:57659534 [GRCh38]
Chr16:57693446 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146039]|not provided [RCV003727620] Chr16:57659568 [GRCh38]
Chr16:57693480 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146041]|Bilateral frontoparietal polymicrogyria [RCV002227448]|not provided [RCV000255359] Chr16:57659616 [GRCh38]
Chr16:57693528 [GRCh37]
Chr16:16q21
likely pathogenic|conflicting interpretations of pathogenicity
NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146042]|not provided [RCV003764887] Chr16:57659641 [GRCh38]
Chr16:57693553 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1647C>T (p.Gly549=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119261]|not provided [RCV000884343]|not specified [RCV000146044] Chr16:57660859 [GRCh38]
Chr16:57694771 [GRCh37]
Chr16:16q21
benign|likely benign
NM_201525.4(ADGRG1):c.1665-41C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001543037]|not provided [RCV000833711]|not specified [RCV000146045] Chr16:57661656 [GRCh38]
Chr16:57695568 [GRCh37]
Chr16:16q21
benign|likely benign|conflicting interpretations of pathogenicity
NM_201525.4(ADGRG1):c.1665-5C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119262]|not provided [RCV001512563]|not specified [RCV000146046] Chr16:57661692 [GRCh38]
Chr16:57695604 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1850G>C (p.Trp617Ser) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146047] Chr16:57661882 [GRCh38]
Chr16:57695794 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.1933+10A>G single nucleotide variant ADGRG1-related disorder [RCV003935244]|Bilateral frontoparietal polymicrogyria [RCV001121263]|not provided [RCV000890214]|not specified [RCV000146048] Chr16:57661975 [GRCh38]
Chr16:57695887 [GRCh37]
Chr16:16q21
benign|likely benign
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146049]|not provided [RCV001857509] Chr16:57663470 [GRCh38]
Chr16:57697382 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146050] Chr16:57651400 [GRCh38]
Chr16:57685312 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146051]|Inborn genetic diseases [RCV000624486]|not provided [RCV001389682] Chr16:57651421 [GRCh38]
Chr16:57685333 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.287G>A (p.Arg96Gln) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146052]|not provided [RCV000521229] Chr16:57651422 [GRCh38]
Chr16:57685334 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu) single nucleotide variant ADGRG1-related disorder [RCV003927428]|Bilateral frontoparietal polymicrogyria [RCV000146053]|not provided [RCV000711843] Chr16:57651536 [GRCh38]
Chr16:57685448 [GRCh37]
Chr16:16q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.504C>T (p.Ala168=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001271449]|not provided [RCV000906626]|not specified [RCV000146054] Chr16:57653219 [GRCh38]
Chr16:57687131 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=) single nucleotide variant ADGRG1-related disorder [RCV003927429]|Bilateral frontoparietal polymicrogyria [RCV000146055]|not provided [RCV000953028] Chr16:57653327 [GRCh38]
Chr16:57687239 [GRCh37]
Chr16:16q21
benign|likely benign|uncertain significance
NM_201525.4(ADGRG1):c.620+1G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146056]|not provided [RCV003669107] Chr16:57653336 [GRCh38]
Chr16:57687248 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.64+15G>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146057]|not provided [RCV002055889] Chr16:57650366 [GRCh38]
Chr16:57684278 [GRCh37]
Chr16:16q21
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.761G>A (p.Arg254Gln) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146058]|Inborn genetic diseases [RCV004019768]|not provided [RCV002055890] Chr16:57654126 [GRCh38]
Chr16:57688038 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146059] Chr16:57654133 [GRCh38]
Chr16:57688045 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) single nucleotide variant ADGRG1-related disorder [RCV003917443]|Bilateral frontoparietal polymicrogyria [RCV001121164]|Bilateral frontoparietal polymicrogyria [RCV002478407]|not provided [RCV000711845]|not specified [RCV000179907] Chr16:57655474 [GRCh38]
Chr16:57689386 [GRCh37]
Chr16:16q21
benign|likely benign|uncertain significance
NM_201525.4(ADGRG1):c.900G>C (p.Gln300His) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000146062] Chr16:57655530 [GRCh38]
Chr16:57689442 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.918A>C (p.Gln306His) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121165]|not provided [RCV000711846]|not specified [RCV000146063] Chr16:57655893 [GRCh38]
Chr16:57689805 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116242]|not provided [RCV000711847]|not specified [RCV000146064] Chr16:57655971 [GRCh38]
Chr16:57689883 [GRCh37]
Chr16:16q21
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 copy number loss See cases [RCV000133738] Chr16:55457477..63841622 [GRCh38]
Chr16:55491389..63875526 [GRCh37]
Chr16:54048890..62433027 [NCBI36]
Chr16:16q12.2-21
pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1
pathogenic
NM_201525.4(ADGRG1):c.1578G>A (p.Thr526=) single nucleotide variant not provided [RCV000153337] Chr16:57660790 [GRCh38]
Chr16:57694702 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.768+4A>C single nucleotide variant not provided [RCV003221846]|not specified [RCV000192939] Chr16:57654137 [GRCh38]
Chr16:57688049 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000169661] Chr16:57650297 [GRCh38]
Chr16:57684209 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.323G>A (p.Arg108His) single nucleotide variant not provided [RCV000178249] Chr16:57651458 [GRCh38]
Chr16:57685370 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.205G>T (p.Ala69Ser) single nucleotide variant not provided [RCV000178250] Chr16:57651340 [GRCh38]
Chr16:57685252 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.27G>A (p.Thr9=) single nucleotide variant not provided [RCV000177237] Chr16:57650314 [GRCh38]
Chr16:57684226 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.253_261del (p.Arg85_Leu87del) deletion not specified [RCV000193496] Chr16:57651387..57651395 [GRCh38]
Chr16:57685299..57685307 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs) duplication Bilateral frontoparietal polymicrogyria [RCV000193721]|not provided [RCV000482949] Chr16:57655918..57655919 [GRCh38]
Chr16:57689830..57689831 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1216del (p.Leu406fs) deletion Bilateral frontoparietal polymicrogyria [RCV000194408]|not provided [RCV001220464] Chr16:57657420 [GRCh38]
Chr16:57691332 [GRCh37]
Chr16:16q21
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2
likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_201525.4(ADGRG1):c.1352A>G (p.Asp451Gly) single nucleotide variant Inborn genetic diseases [RCV000623764] Chr16:57659478 [GRCh38]
Chr16:57693390 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.1934-4G>A single nucleotide variant not provided [RCV000942828]|not specified [RCV000601065] Chr16:57663448 [GRCh38]
Chr16:57697360 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.*48C>T single nucleotide variant not specified [RCV000253479] Chr16:57663630 [GRCh38]
Chr16:57697542 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.132C>T (p.Ser44=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117567]|not provided [RCV000908001]|not specified [RCV000246479] Chr16:57651267 [GRCh38]
Chr16:57685179 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.249C>T (p.Asp83=) single nucleotide variant not provided [RCV000711841]|not specified [RCV000244529] Chr16:57651384 [GRCh38]
Chr16:57685296 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.733G>A (p.Gly245Ser) single nucleotide variant Inborn genetic diseases [RCV002518633]|not provided [RCV002519926]|not specified [RCV000247460] Chr16:57654098 [GRCh38]
Chr16:57688010 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.*38T>G single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121268]|not provided [RCV001640539]|not specified [RCV000250329] Chr16:57663620 [GRCh38]
Chr16:57697532 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.373C>G (p.Gln125Glu) single nucleotide variant Inborn genetic diseases [RCV003258722]|not provided [RCV000268486] Chr16:57651508 [GRCh38]
Chr16:57685420 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1537C>T (p.Leu513=) single nucleotide variant not provided [RCV000302308] Chr16:57659663 [GRCh38]
Chr16:57693575 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.1287-28G>C single nucleotide variant ADGRG1-related disorder [RCV003957476]|Bilateral frontoparietal polymicrogyria [RCV001276427]|not provided [RCV000901742]|not specified [RCV000335717] Chr16:57659385 [GRCh38]
Chr16:57693297 [GRCh37]
Chr16:16q21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.1512C>G (p.Thr504=) single nucleotide variant not provided [RCV000341498] Chr16:57659638 [GRCh38]
Chr16:57693550 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119169]|not provided [RCV000323492]|not specified [RCV001820827] Chr16:57651622 [GRCh38]
Chr16:57685534 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.97C>T (p.Arg33Cys) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117566]|Inborn genetic diseases [RCV002518977]|not provided [RCV000395102] Chr16:57651232 [GRCh38]
Chr16:57685144 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.243C>T (p.Phe81=) single nucleotide variant ADGRG1-related disorder [RCV003957446]|not provided [RCV000397902] Chr16:57651378 [GRCh38]
Chr16:57685290 [GRCh37]
Chr16:16q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.1287-6G>A single nucleotide variant ADGRG1-related disorder [RCV003902737]|Bilateral frontoparietal polymicrogyria [RCV001117689]|not provided [RCV000487789] Chr16:57659407 [GRCh38]
Chr16:57693319 [GRCh37]
Chr16:16q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.1148C>A (p.Thr383Asn) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000626264] Chr16:57656598 [GRCh38]
Chr16:57690510 [GRCh37]
Chr16:16q21
pathogenic|uncertain significance
NM_201525.4(ADGRG1):c.1191C>T (p.Ala397=) single nucleotide variant not provided [RCV000596381] Chr16:57657396 [GRCh38]
Chr16:57691308 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116246]|not provided [RCV000592423] Chr16:57657393 [GRCh38]
Chr16:57691305 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.1774C>T (p.Arg592Trp) single nucleotide variant Inborn genetic diseases [RCV004609445]|not provided [RCV000592937] Chr16:57661806 [GRCh38]
Chr16:57695718 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1356G>A (p.Thr452=) single nucleotide variant not provided [RCV000593804] Chr16:57659482 [GRCh38]
Chr16:57693394 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.393G>C (p.Gln131His) single nucleotide variant not provided [RCV000735042] Chr16:57651528 [GRCh38]
Chr16:57685440 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1959G>A (p.Trp653Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV002227848] Chr16:57663477 [GRCh38]
Chr16:57697389 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.641C>G (p.Ser214Trp) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001277885]|Inborn genetic diseases [RCV004609511]|not provided [RCV000732475] Chr16:57654006 [GRCh38]
Chr16:57687918 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.197C>T (p.Thr66Ile) single nucleotide variant not provided [RCV000733653] Chr16:57651332 [GRCh38]
Chr16:57685244 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.843_844delinsGC (p.Ser281_Gly282delinsArgArg) indel Bilateral frontoparietal polymicrogyria [RCV000765301]|not provided [RCV000941967]|not specified [RCV000412907] Chr16:57655473..57655474 [GRCh38]
Chr16:57689385..57689386 [GRCh37]
Chr16:16q21
benign|uncertain significance
NM_201525.4(ADGRG1):c.671del (p.Asp224fs) deletion Bilateral frontoparietal polymicrogyria [RCV001833497]|not provided [RCV000413841] Chr16:57654036 [GRCh38]
Chr16:57687948 [GRCh37]
Chr16:16q21
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NM_201525.4(ADGRG1):c.621-20C>T single nucleotide variant not provided [RCV001861611]|not specified [RCV000445269] Chr16:57653966 [GRCh38]
Chr16:57687878 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1842C>T (p.Gly614=) single nucleotide variant not provided [RCV000895671]|not specified [RCV000439894] Chr16:57661874 [GRCh38]
Chr16:57695786 [GRCh37]
Chr16:16q21
benign|likely benign
NM_201525.4(ADGRG1):c.66T>G (p.Gly22=) single nucleotide variant ADGRG1-related disorder [RCV003932620]|not provided [RCV000934728] Chr16:57651201 [GRCh38]
Chr16:57685113 [GRCh37]
Chr16:16q21
benign|likely benign
NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001835796]|not provided [RCV000434335] Chr16:57651502 [GRCh38]
Chr16:57685414 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.1775G>A (p.Arg592Gln) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV002481617]|not specified [RCV000503290] Chr16:57661807 [GRCh38]
Chr16:57695719 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=) single nucleotide variant ADGRG1-related disorder [RCV003962383]|Bilateral frontoparietal polymicrogyria [RCV001829426]|not provided [RCV000711838]|not specified [RCV000501852] Chr16:57659497 [GRCh38]
Chr16:57693409 [GRCh37]
Chr16:16q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.1017+35C>T single nucleotide variant not specified [RCV000499790] Chr16:57656027 [GRCh38]
Chr16:57689939 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=) single nucleotide variant ADGRG1-related disorder [RCV003960167]|Bilateral frontoparietal polymicrogyria [RCV001117568]|not provided [RCV000966009]|not specified [RCV000499931] Chr16:57651309 [GRCh38]
Chr16:57685221 [GRCh37]
Chr16:16q21
benign|likely benign
NM_201525.4(ADGRG1):c.402G>A (p.Pro134=) single nucleotide variant ADGRG1-related disorder [RCV003900045]|Bilateral frontoparietal polymicrogyria [RCV001119167]|not provided [RCV000912260]|not specified [RCV000500743] Chr16:57651537 [GRCh38]
Chr16:57685449 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.702C>T (p.Asn234=) single nucleotide variant not provided [RCV001457407]|not specified [RCV000502868] Chr16:57654067 [GRCh38]
Chr16:57687979 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.235C>T (p.Arg79Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001271447]|not provided [RCV000493599] Chr16:57651370 [GRCh38]
Chr16:57685282 [GRCh37]
Chr16:16q21
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 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21
pathogenic
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_201525.4(ADGRG1):c.1982G>A (p.Gly661Asp) single nucleotide variant Inborn genetic diseases [RCV003261543] Chr16:57663500 [GRCh38]
Chr16:57697412 [GRCh37]
Chr16:16q21
uncertain significance
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
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
NM_201525.4(ADGRG1):c.-35-8529C>A single nucleotide variant not specified [RCV000612249] Chr16:57641724 [GRCh38]
Chr16:57675636 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.15G>A (p.Ser5=) single nucleotide variant not provided [RCV000920911]|not specified [RCV000605315] Chr16:57650302 [GRCh38]
Chr16:57684214 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.-35-8550T>C single nucleotide variant not specified [RCV000613497] Chr16:57641703 [GRCh38]
Chr16:57675615 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1857G>T (p.Leu619Phe) single nucleotide variant not provided [RCV000593968] Chr16:57661889 [GRCh38]
Chr16:57695801 [GRCh37]
Chr16:16q21
uncertain significance
NM_005682.7(ADGRG1):c.-155A>G single nucleotide variant not specified [RCV000614132] Chr16:57620135 [GRCh38]
Chr16:57654047 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.623A>C (p.Gln208Pro) single nucleotide variant not provided [RCV003239090] Chr16:57653988 [GRCh38]
Chr16:57687900 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1457G>A (p.Trp486Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV003317886] Chr16:57659583 [GRCh38]
Chr16:57693495 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1063+8T>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116245]|not provided [RCV000929347]|not specified [RCV000609298] Chr16:57656279 [GRCh38]
Chr16:57690191 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
NM_201525.4(ADGRG1):c.1780C>T (p.Arg594Cys) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121261]|not provided [RCV000658401] Chr16:57661812 [GRCh38]
Chr16:57695724 [GRCh37]
Chr16:16q21
uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2
pathogenic
NM_201525.4(ADGRG1):c.2057G>A (p.Arg686His) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001835936]|Inborn genetic diseases [RCV002532919]|not provided [RCV000711840] Chr16:57663575 [GRCh38]
Chr16:57697487 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000765300]|Bilateral frontoparietal polymicrogyria [RCV001117564]|not provided [RCV000711842] Chr16:57650313 [GRCh38]
Chr16:57684225 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
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
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
NM_201525.4(ADGRG1):c.-36+77T>A single nucleotide variant not provided [RCV001541624] Chr16:57628879 [GRCh38]
Chr16:57662791 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.621-127CTCTGC[3] microsatellite not provided [RCV001541885] Chr16:57653859..57653864 [GRCh38]
Chr16:57687771..57687776 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.621-184A>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001543033]|not provided [RCV001712993] Chr16:57653802 [GRCh38]
Chr16:57687714 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1167+77C>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001543034]|not provided [RCV001647384] Chr16:57656694 [GRCh38]
Chr16:57690606 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.-36+53A>T single nucleotide variant not provided [RCV001611686] Chr16:57628855 [GRCh38]
Chr16:57662767 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1884C>T (p.Thr628=) single nucleotide variant not provided [RCV000941623] Chr16:57661916 [GRCh38]
Chr16:57695828 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.488-100G>A single nucleotide variant not provided [RCV001667883] Chr16:57653103 [GRCh38]
Chr16:57687015 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1167+182C>T single nucleotide variant not provided [RCV001648928] Chr16:57656799 [GRCh38]
Chr16:57690711 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.308T>C (p.Leu103Pro) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV003314365] Chr16:57651443 [GRCh38]
Chr16:57685355 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.811C>T (p.Arg271Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV003328470]|not provided [RCV000760359] Chr16:57655441 [GRCh38]
Chr16:57689353 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.769-97C>T single nucleotide variant not provided [RCV001580957] Chr16:57655302 [GRCh38]
Chr16:57689214 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.*98C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116346]|not provided [RCV001712852] Chr16:57663680 [GRCh38]
Chr16:57697592 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.191C>T (p.Ala64Val) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001559241]|not provided [RCV002568389] Chr16:57651326 [GRCh38]
Chr16:57685238 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1933+241G>T single nucleotide variant not provided [RCV001568721] Chr16:57662206 [GRCh38]
Chr16:57696118 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.*105T>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116347] Chr16:57663687 [GRCh38]
Chr16:57697599 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*943C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116442] Chr16:57664525 [GRCh38]
Chr16:57698437 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*1069G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116446] Chr16:57664651 [GRCh38]
Chr16:57698563 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.768+287_768+288del deletion not provided [RCV001669208] Chr16:57654410..57654411 [GRCh38]
Chr16:57688322..57688323 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.801G>C (p.Val267=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001827024]|not provided [RCV000944683] Chr16:57655431 [GRCh38]
Chr16:57689343 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.488-5C>T single nucleotide variant not provided [RCV000922814] Chr16:57653198 [GRCh38]
Chr16:57687110 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.636G>A (p.Leu212=) single nucleotide variant not provided [RCV000944873] Chr16:57654001 [GRCh38]
Chr16:57687913 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2001G>A (p.Lys667=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121264]|not provided [RCV000936638] Chr16:57663519 [GRCh38]
Chr16:57697431 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.621-5G>A single nucleotide variant ADGRG1-related disorder [RCV003925849]|Bilateral frontoparietal polymicrogyria [RCV001276424]|not provided [RCV000944365] Chr16:57653981 [GRCh38]
Chr16:57687893 [GRCh37]
Chr16:16q21
benign|likely benign|uncertain significance
NM_201525.4(ADGRG1):c.2016C>T (p.Ser672=) single nucleotide variant not provided [RCV000943015] Chr16:57663534 [GRCh38]
Chr16:57697446 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1327C>T (p.Leu443=) single nucleotide variant not provided [RCV000983657] Chr16:57659453 [GRCh38]
Chr16:57693365 [GRCh37]
Chr16:16q21
likely benign
GRCh37/hg19 16q21(chr16:57499814-58032169)x3 copy number gain not provided [RCV000996429] Chr16:57499814..58032169 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1656C>A (p.Tyr552Ter) single nucleotide variant not provided [RCV001065558] Chr16:57660868 [GRCh38]
Chr16:57694780 [GRCh37]
Chr16:16q21
pathogenic
NC_000016.10:g.(?_57650278)_(57663592_?)del deletion not provided [RCV001031869] Chr16:57684190..57697504 [GRCh37]
Chr16:16q21
pathogenic
NC_000016.10:g.(?_57655389)_(57660886_?)dup duplication not provided [RCV001032095] Chr16:57689301..57694798 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.214C>T (p.Pro72Ser) single nucleotide variant ADGRG1-related disorder [RCV003928539]|Bilateral frontoparietal polymicrogyria [RCV001276421]|not provided [RCV000972532] Chr16:57651349 [GRCh38]
Chr16:57685261 [GRCh37]
Chr16:16q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.1143C>T (p.His381=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001271450]|not provided [RCV000939966] Chr16:57656593 [GRCh38]
Chr16:57690505 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.384C>T (p.Ser128=) single nucleotide variant not provided [RCV000977234] Chr16:57651519 [GRCh38]
Chr16:57685431 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1491C>T (p.Leu497=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001276429]|not provided [RCV000975562] Chr16:57659617 [GRCh38]
Chr16:57693529 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.412A>C (p.Thr138Pro) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001276422]|not provided [RCV000942712] Chr16:57651547 [GRCh38]
Chr16:57685459 [GRCh37]
Chr16:16q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.1146G>A (p.Leu382=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001276426]|not provided [RCV000980889] Chr16:57656596 [GRCh38]
Chr16:57690508 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1332G>T (p.Leu444=) single nucleotide variant not provided [RCV000979755] Chr16:57659458 [GRCh38]
Chr16:57693370 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.937T>C (p.Leu313=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121166]|not provided [RCV000915347] Chr16:57655912 [GRCh38]
Chr16:57689824 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.222C>T (p.Ala74=) single nucleotide variant not provided [RCV000918888] Chr16:57651357 [GRCh38]
Chr16:57685269 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1236C>T (p.Val412=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001825801]|not provided [RCV000894523] Chr16:57657441 [GRCh38]
Chr16:57691353 [GRCh37]
Chr16:16q21
benign|likely benign
NM_201525.4(ADGRG1):c.391C>T (p.Gln131Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000779590]|not provided [RCV003736904] Chr16:57651526 [GRCh38]
Chr16:57685438 [GRCh37]
Chr16:16q21
pathogenic|uncertain significance
NM_201525.4(ADGRG1):c.843del (p.Ser281fs) deletion not provided [RCV002280516] Chr16:57655473 [GRCh38]
Chr16:57689385 [GRCh37]
Chr16:16q21
likely pathogenic
NM_005682.7(ADGRG1):c.1286+79G>A single nucleotide variant not provided [RCV000837371] Chr16:57657570 [GRCh38]
Chr16:57691482 [GRCh37]
Chr16:16q21
likely benign
NM_005682.7(ADGRG1):c.-153-2381C>T single nucleotide variant not provided [RCV000839580] Chr16:57639210 [GRCh38]
Chr16:57673122 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.769-80GT[7] microsatellite not provided [RCV000829550] Chr16:57655319..57655320 [GRCh38]
Chr16:57689231..57689232 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.553C>T (p.Leu185=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001276423]|not provided [RCV000975579] Chr16:57653268 [GRCh38]
Chr16:57687180 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2037G>A (p.Ser679=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121265]|not provided [RCV000975601] Chr16:57663555 [GRCh38]
Chr16:57697467 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NC_000016.10:g.57661656C>T single nucleotide variant not provided [RCV000833711] Chr16:57695568 [GRCh37]
Chr16:16q21
benign
NM_005682.7(ADGRG1):c.1682+116G>A single nucleotide variant not provided [RCV000841826] Chr16:57660992 [GRCh38]
Chr16:57694904 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1798T>C (p.Trp600Arg) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001827133]|not provided [RCV000992090] Chr16:57661830 [GRCh38]
Chr16:57695742 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*250G>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117793] Chr16:57663832 [GRCh38]
Chr16:57697744 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*648C>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119362] Chr16:57664230 [GRCh38]
Chr16:57698142 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*768T>G single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119363] Chr16:57664350 [GRCh38]
Chr16:57698262 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*791C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119364] Chr16:57664373 [GRCh38]
Chr16:57698285 [GRCh37]
Chr16:16q21
benign
NM_005682.7(ADGRG1):c.1952-19G>A single nucleotide variant not provided [RCV000827846] Chr16:57663433 [GRCh38]
Chr16:57697345 [GRCh37]
Chr16:16q21
benign|likely benign
NM_201525.4(ADGRG1):c.*1220C>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117899]|not provided [RCV004716667] Chr16:57664802 [GRCh38]
Chr16:57698714 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.*1336T>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117901]|not provided [RCV004693724] Chr16:57664918 [GRCh38]
Chr16:57698830 [GRCh37]
Chr16:16q21
uncertain significance
NM_005682.7(ADGRG1):c.-197G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116131] Chr16:57620093 [GRCh38]
Chr16:57654005 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.-35-8595C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116134] Chr16:57641658 [GRCh38]
Chr16:57675570 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.*332G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117796] Chr16:57663914 [GRCh38]
Chr16:57697826 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*1372T>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117903] Chr16:57664954 [GRCh38]
Chr16:57698866 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.695G>A (p.Arg232Gln) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119172]|Inborn genetic diseases [RCV002556537]|not provided [RCV002261281] Chr16:57654060 [GRCh38]
Chr16:57687972 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1237G>A (p.Val413Ile) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116247] Chr16:57657442 [GRCh38]
Chr16:57691354 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*74C>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116345]|not provided [RCV001615117] Chr16:57663656 [GRCh38]
Chr16:57697568 [GRCh37]
Chr16:16q21
benign
NM_005682.7(ADGRG1):c.-154+8A>T single nucleotide variant not provided [RCV000827026] Chr16:57620144 [GRCh38]
Chr16:57654056 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.685G>A (p.Glu229Lys) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119171]|not provided [RCV001247793] Chr16:57654050 [GRCh38]
Chr16:57687962 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1744A>T (p.Met582Leu) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119263]|not provided [RCV001438114] Chr16:57661776 [GRCh38]
Chr16:57695688 [GRCh37]
Chr16:16q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.843C>T (p.Ser281=) single nucleotide variant not provided [RCV000980769] Chr16:57655473 [GRCh38]
Chr16:57689385 [GRCh37]
Chr16:16q21
likely benign
NM_005682.7(ADGRG1):c.769-283C>T single nucleotide variant not provided [RCV000843472] Chr16:57655116 [GRCh38]
Chr16:57689028 [GRCh37]
Chr16:16q21
benign
NM_005682.7(ADGRG1):c.1287-252C>T single nucleotide variant not provided [RCV000843474] Chr16:57659143 [GRCh38]
Chr16:57693055 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.59del (p.Val20fs) deletion not provided [RCV000792327] Chr16:57650346 [GRCh38]
Chr16:57684258 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.407T>A (p.Leu136Ter) single nucleotide variant not provided [RCV000820549] Chr16:57651542 [GRCh38]
Chr16:57685454 [GRCh37]
Chr16:16q21
pathogenic
NM_005682.7(ADGRG1):c.620+151A>G single nucleotide variant not provided [RCV000841740] Chr16:57653486 [GRCh38]
Chr16:57687398 [GRCh37]
Chr16:16q21
benign
NM_005682.7(ADGRG1):c.1287-60G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001543036]|not provided [RCV000841741] Chr16:57659335 [GRCh38]
Chr16:57693247 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1556-9C>T single nucleotide variant not provided [RCV000981468] Chr16:57660759 [GRCh38]
Chr16:57694671 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1164G>A (p.Leu388=) single nucleotide variant not provided [RCV000979837] Chr16:57656614 [GRCh38]
Chr16:57690526 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1017+11G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116244]|not provided [RCV002069872] Chr16:57656003 [GRCh38]
Chr16:57689915 [GRCh37]
Chr16:16q21
benign|uncertain significance
NM_201525.4(ADGRG1):c.*1058C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116445] Chr16:57664640 [GRCh38]
Chr16:57698552 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.*1105G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116447] Chr16:57664687 [GRCh38]
Chr16:57698599 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*1129G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116448] Chr16:57664711 [GRCh38]
Chr16:57698623 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*154G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117789]|not provided [RCV001555819] Chr16:57663736 [GRCh38]
Chr16:57697648 [GRCh37]
Chr16:16q21
benign|likely benign
NM_201525.4(ADGRG1):c.*221C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117792] Chr16:57663803 [GRCh38]
Chr16:57697715 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*304C>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117795]|not provided [RCV001552714] Chr16:57663886 [GRCh38]
Chr16:57697798 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1781G>A (p.Arg594His) single nucleotide variant not provided [RCV000992089] Chr16:57661813 [GRCh38]
Chr16:57695725 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.322C>T (p.Arg108Cys) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117570]|Inborn genetic diseases [RCV003346327] Chr16:57651457 [GRCh38]
Chr16:57685369 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1597G>A (p.Val533Met) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119259]|not provided [RCV002556541] Chr16:57660809 [GRCh38]
Chr16:57694721 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*388G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119357] Chr16:57663970 [GRCh38]
Chr16:57697882 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*551G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119361] Chr16:57664133 [GRCh38]
Chr16:57698045 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.215del (p.Pro72fs) deletion Bilateral frontoparietal polymicrogyria [RCV002504230]|not provided [RCV001202587] Chr16:57651348 [GRCh38]
Chr16:57685260 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.1018-56A>G single nucleotide variant not provided [RCV001544878] Chr16:57656170 [GRCh38]
Chr16:57690082 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1646G>T (p.Gly549Val) single nucleotide variant Inborn genetic diseases [RCV002560263]|See cases [RCV001198943] Chr16:57660858 [GRCh38]
Chr16:57694770 [GRCh37]
Chr16:16q21
uncertain significance
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 copy number gain not provided [RCV000848548] Chr16:53455650..64006604 [GRCh37]
Chr16:16q12.2-21
uncertain significance
NM_201525.4(ADGRG1):c.1738A>G (p.Met580Val) single nucleotide variant not provided [RCV000996277] Chr16:57661770 [GRCh38]
Chr16:57695682 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.726C>T (p.Pro242=) single nucleotide variant ADGRG1-related disorder [RCV003945834]|Bilateral frontoparietal polymicrogyria [RCV001121159]|not provided [RCV001398466] Chr16:57654091 [GRCh38]
Chr16:57688003 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.*1284G>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117900] Chr16:57664866 [GRCh38]
Chr16:57698778 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*46G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116342] Chr16:57663628 [GRCh38]
Chr16:57697540 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.*1007G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116443]|not provided [RCV004716665] Chr16:57664589 [GRCh38]
Chr16:57698501 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.*1046A>G single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116444] Chr16:57664628 [GRCh38]
Chr16:57698540 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.708G>A (p.Thr236=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119173]|not provided [RCV001449340] Chr16:57654073 [GRCh38]
Chr16:57687985 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1956C>T (p.Tyr652=) single nucleotide variant not provided [RCV003106998] Chr16:57663474 [GRCh38]
Chr16:57697386 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1664+67G>A single nucleotide variant not provided [RCV001551546] Chr16:57660943 [GRCh38]
Chr16:57694855 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.-36+137_-36+140del deletion not provided [RCV001617636] Chr16:57628938..57628941 [GRCh38]
Chr16:57662850..57662853 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.-35-8412A>G single nucleotide variant not provided [RCV001678237] Chr16:57641841 [GRCh38]
Chr16:57675753 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.769-56G>A single nucleotide variant not provided [RCV001585349] Chr16:57655343 [GRCh38]
Chr16:57689255 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.-36+151A>T single nucleotide variant not provided [RCV001658947] Chr16:57628953 [GRCh38]
Chr16:57662865 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.-36+102G>A single nucleotide variant not provided [RCV001723105] Chr16:57628904 [GRCh38]
Chr16:57662816 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1555+215A>G single nucleotide variant not provided [RCV001550313] Chr16:57659896 [GRCh38]
Chr16:57693808 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1934-128C>T single nucleotide variant not provided [RCV001576650] Chr16:57663324 [GRCh38]
Chr16:57697236 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1664+293C>T single nucleotide variant not provided [RCV001637474] Chr16:57661169 [GRCh38]
Chr16:57695081 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.768+288C>G single nucleotide variant not provided [RCV001684688] Chr16:57654421 [GRCh38]
Chr16:57688333 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.768+276A>C single nucleotide variant not provided [RCV001557263] Chr16:57654409 [GRCh38]
Chr16:57688321 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.620+67T>C single nucleotide variant not provided [RCV001674473] Chr16:57653402 [GRCh38]
Chr16:57687314 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1665-99G>A single nucleotide variant not provided [RCV001718324] Chr16:57661598 [GRCh38]
Chr16:57695510 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.-35-10403G>A single nucleotide variant not provided [RCV001680617] Chr16:57639850 [GRCh38]
Chr16:57673762 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.768+108G>T single nucleotide variant not provided [RCV001546962] Chr16:57654241 [GRCh38]
Chr16:57688153 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1561C>T (p.Pro521Ser) single nucleotide variant not provided [RCV001574117] Chr16:57660773 [GRCh38]
Chr16:57694685 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.769-152A>T single nucleotide variant not provided [RCV001559418] Chr16:57655247 [GRCh38]
Chr16:57689159 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1556-95A>G single nucleotide variant not provided [RCV001617063] Chr16:57660673 [GRCh38]
Chr16:57694585 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.768+279C>A single nucleotide variant not provided [RCV001677136] Chr16:57654412 [GRCh38]
Chr16:57688324 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1270G>A (p.Ala424Thr) single nucleotide variant ADGRG1-related disorder [RCV003968230]|Bilateral frontoparietal polymicrogyria [RCV001117687]|not provided [RCV000899932] Chr16:57657475 [GRCh38]
Chr16:57691387 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.769-10A>G single nucleotide variant not provided [RCV000944554] Chr16:57655389 [GRCh38]
Chr16:57689301 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.822C>T (p.Phe274=) single nucleotide variant not provided [RCV000978222] Chr16:57655452 [GRCh38]
Chr16:57689364 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.975C>G (p.Leu325=) single nucleotide variant not provided [RCV000918609] Chr16:57655950 [GRCh38]
Chr16:57689862 [GRCh37]
Chr16:16q21
likely benign
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21
pathogenic
NM_201525.4(ADGRG1):c.1934-5C>T single nucleotide variant not provided [RCV000980752] Chr16:57663447 [GRCh38]
Chr16:57697359 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.462C>G (p.Ala154=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119168]|not provided [RCV000980351] Chr16:57651597 [GRCh38]
Chr16:57685509 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.246T>C (p.Pro82=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001832227]|not provided [RCV000975853] Chr16:57651381 [GRCh38]
Chr16:57685293 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.111G>A (p.Gln37=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001276420]|not provided [RCV000915416] Chr16:57651246 [GRCh38]
Chr16:57685158 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1269C>T (p.Ala423=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116248]|not provided [RCV000942701] Chr16:57657474 [GRCh38]
Chr16:57691386 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.642G>A (p.Ser214=) single nucleotide variant not provided [RCV000978857] Chr16:57654007 [GRCh38]
Chr16:57687919 [GRCh37]
Chr16:16q21
likely benign
NM_005682.7(ADGRG1):c.-227C>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116129] Chr16:57620063 [GRCh38]
Chr16:57653975 [GRCh37]
Chr16:16q21
likely benign
NM_005682.7(ADGRG1):c.-154+9C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116132] Chr16:57620145 [GRCh38]
Chr16:57654057 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.-35-8590T>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116135]|not provided [RCV004693713] Chr16:57641663 [GRCh38]
Chr16:57675575 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*1156G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116449] Chr16:57664738 [GRCh38]
Chr16:57698650 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.183C>T (p.Ser61=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117569]|not provided [RCV001411511] Chr16:57651318 [GRCh38]
Chr16:57685230 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1462G>A (p.Gly488Ser) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117693]|Inborn genetic diseases [RCV003293887] Chr16:57659588 [GRCh38]
Chr16:57693500 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1377G>A (p.Pro459=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001276428]|not provided [RCV000912749] Chr16:57659503 [GRCh38]
Chr16:57693415 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.711G>A (p.Val237=) single nucleotide variant ADGRG1-related disorder [RCV003958322]|Bilateral frontoparietal polymicrogyria [RCV001276425]|not provided [RCV000911091] Chr16:57654076 [GRCh38]
Chr16:57687988 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1570C>T (p.Leu524=) single nucleotide variant not provided [RCV002857872] Chr16:57660782 [GRCh38]
Chr16:57694694 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.768+280C>A single nucleotide variant not provided [RCV001563261] Chr16:57654413 [GRCh38]
Chr16:57688325 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1286+113G>C single nucleotide variant not provided [RCV001717554] Chr16:57657604 [GRCh38]
Chr16:57691516 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.620+67T>G single nucleotide variant not provided [RCV001717604] Chr16:57653402 [GRCh38]
Chr16:57687314 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.-36+113A>T single nucleotide variant not provided [RCV001721867] Chr16:57628915 [GRCh38]
Chr16:57662827 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1063+85C>T single nucleotide variant not provided [RCV001578257] Chr16:57656356 [GRCh38]
Chr16:57690268 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.65-250C>T single nucleotide variant not provided [RCV001594170] Chr16:57650950 [GRCh38]
Chr16:57684862 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.-36+10587_-36+10601del microsatellite Polymicrogyria, bilateral perisylvian, autosomal recessive [RCV000114942]|not provided [RCV002514573] Chr16:57639374..57639388 [GRCh38]
Chr16:57673286..57673300 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.*19C>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121267]|not provided [RCV001651192]|not specified [RCV000245590] Chr16:57663601 [GRCh38]
Chr16:57697513 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1665G>T (p.Met555Ile) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001834692]|not provided [RCV000520575] Chr16:57661697 [GRCh38]
Chr16:57695609 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.184G>A (p.Glu62Lys) single nucleotide variant Inborn genetic diseases [RCV003266961] Chr16:57651319 [GRCh38]
Chr16:57685231 [GRCh37]
Chr16:16q21
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
NM_201525.4(ADGRG1):c.236G>A (p.Arg79Gln) single nucleotide variant ADGRG1-related disorder [RCV003932588]|not provided [RCV000972533] Chr16:57651371 [GRCh38]
Chr16:57685283 [GRCh37]
Chr16:16q21
benign|likely benign
GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1 copy number loss not provided [RCV000683823] Chr16:56950941..60203590 [GRCh37]
Chr16:16q13-21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs) duplication Bilateral frontoparietal polymicrogyria [RCV003328449]|Macrogyria [RCV000714243] Chr16:57660794..57660795 [GRCh38]
Chr16:57694706..57694707 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116136]|Inborn genetic diseases [RCV004026814]|not provided [RCV000711839] Chr16:57650301 [GRCh38]
Chr16:57684213 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.-36+123T>A single nucleotide variant not provided [RCV001530797] Chr16:57628925 [GRCh38]
Chr16:57662837 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV000754627]|not provided [RCV001869014] Chr16:57655528 [GRCh38]
Chr16:57689440 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.64+41G>A single nucleotide variant not provided [RCV001546583] Chr16:57650392 [GRCh38]
Chr16:57684304 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.985G>A (p.Val329Met) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116241]|Inborn genetic diseases [RCV002540774]|not provided [RCV000908397] Chr16:57655960 [GRCh38]
Chr16:57689872 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.396C>T (p.Gly132=) single nucleotide variant not provided [RCV000983622] Chr16:57651531 [GRCh38]
Chr16:57685443 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1665-4G>C single nucleotide variant Inborn genetic diseases [RCV002539360]|not provided [RCV000887219] Chr16:57661693 [GRCh38]
Chr16:57695605 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1555+280C>G single nucleotide variant not provided [RCV001561097] Chr16:57659961 [GRCh38]
Chr16:57693873 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.768+46G>A single nucleotide variant not provided [RCV001546607] Chr16:57654179 [GRCh38]
Chr16:57688091 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1018-41G>A single nucleotide variant not provided [RCV001547014] Chr16:57656185 [GRCh38]
Chr16:57690097 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.65-230del deletion not provided [RCV001566512] Chr16:57650968 [GRCh38]
Chr16:57684880 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.703G>A (p.Ala235Thr) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001559240]|Inborn genetic diseases [RCV002569006]|not provided [RCV002568388] Chr16:57654068 [GRCh38]
Chr16:57687980 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1232G>A (p.Cys411Tyr) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV002471479] Chr16:57657437 [GRCh38]
Chr16:57691349 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.-118C>G single nucleotide variant not provided [RCV001659037] Chr16:57628720 [GRCh38]
Chr16:57662632 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.65-249G>A single nucleotide variant not provided [RCV001596604] Chr16:57650951 [GRCh38]
Chr16:57684863 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.768+289G>T single nucleotide variant not provided [RCV001687295] Chr16:57654422 [GRCh38]
Chr16:57688334 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1287-251T>G single nucleotide variant not provided [RCV001717556] Chr16:57659162 [GRCh38]
Chr16:57693074 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.620+66_620+67insC insertion not provided [RCV001717602] Chr16:57653401..57653402 [GRCh38]
Chr16:57687313..57687314 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1286+249TTA[3] microsatellite not provided [RCV001653070] Chr16:57657740..57657742 [GRCh38]
Chr16:57691652..57691654 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.-35-268C>G single nucleotide variant not provided [RCV001688977] Chr16:57649985 [GRCh38]
Chr16:57683897 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.-36+119_-36+120del deletion not provided [RCV001719262] Chr16:57628920..57628921 [GRCh38]
Chr16:57662832..57662833 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.-36+91_-36+96del microsatellite not provided [RCV001719263] Chr16:57628886..57628891 [GRCh38]
Chr16:57662798..57662803 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.-35-10423G>C single nucleotide variant not provided [RCV001663083] Chr16:57639830 [GRCh38]
Chr16:57673742 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.768+288del deletion not provided [RCV001676298] Chr16:57654410 [GRCh38]
Chr16:57688322 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1555+218A>G single nucleotide variant not provided [RCV001594546] Chr16:57659899 [GRCh38]
Chr16:57693811 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.-36+183_-36+186del microsatellite not provided [RCV001618049] Chr16:57628978..57628981 [GRCh38]
Chr16:57662890..57662893 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.768+301dup duplication not provided [RCV001658421] Chr16:57654422..57654423 [GRCh38]
Chr16:57688334..57688335 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.769-80GT[10] microsatellite not provided [RCV001590851] Chr16:57655318..57655319 [GRCh38]
Chr16:57689230..57689231 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.*1437A>G single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117904]|not provided [RCV004715397] Chr16:57665019 [GRCh38]
Chr16:57698931 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1563C>T (p.Pro521=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119257]|not provided [RCV003558682] Chr16:57660775 [GRCh38]
Chr16:57694687 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1646G>A (p.Gly549Asp) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119260] Chr16:57660858 [GRCh38]
Chr16:57694770 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*414G>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119358] Chr16:57663996 [GRCh38]
Chr16:57697908 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*832T>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121359]|not provided [RCV004715418] Chr16:57664414 [GRCh38]
Chr16:57698326 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.797C>T (p.Ser266Leu) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121162] Chr16:57655427 [GRCh38]
Chr16:57689339 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*819G>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121358] Chr16:57664401 [GRCh38]
Chr16:57698313 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*910T>C single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121363] Chr16:57664492 [GRCh38]
Chr16:57698404 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.-35-182C>T single nucleotide variant not provided [RCV001584571] Chr16:57650071 [GRCh38]
Chr16:57683983 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.-35-10705A>G single nucleotide variant not provided [RCV001680437] Chr16:57639548 [GRCh38]
Chr16:57673460 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.-36+163_-36+198del deletion not provided [RCV001669600] Chr16:57628964..57628999 [GRCh38]
Chr16:57662876..57662911 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.*189G>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117790] Chr16:57663771 [GRCh38]
Chr16:57697683 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.*196C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117791] Chr16:57663778 [GRCh38]
Chr16:57697690 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*301C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117794]|not provided [RCV001619886] Chr16:57663883 [GRCh38]
Chr16:57697795 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1415G>C (p.Ser472Thr) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117691] Chr16:57659541 [GRCh38]
Chr16:57693453 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1511C>G (p.Thr504Ser) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117694] Chr16:57659637 [GRCh38]
Chr16:57693549 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.113G>A (p.Arg38Gln) single nucleotide variant not provided [RCV001069769] Chr16:57651248 [GRCh38]
Chr16:57685160 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.*420C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119359] Chr16:57664002 [GRCh38]
Chr16:57697914 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*549C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119360]|not provided [RCV003405328] Chr16:57664131 [GRCh38]
Chr16:57698043 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.765G>A (p.Gln255=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121161]|not provided [RCV001410978] Chr16:57654130 [GRCh38]
Chr16:57688042 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.*840A>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121360] Chr16:57664422 [GRCh38]
Chr16:57698334 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.72C>T (p.His24=) single nucleotide variant not provided [RCV001200598] Chr16:57651207 [GRCh38]
Chr16:57685119 [GRCh37]
Chr16:16q21
likely benign
NM_005682.7(ADGRG1):c.-213G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116130] Chr16:57620077 [GRCh38]
Chr16:57653989 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.-35-8657C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116133] Chr16:57641596 [GRCh38]
Chr16:57675508 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*68C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116343] Chr16:57663650 [GRCh38]
Chr16:57697562 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.760C>T (p.Arg254Trp) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121160]|not provided [RCV001577503] Chr16:57654125 [GRCh38]
Chr16:57688037 [GRCh37]
Chr16:16q21
conflicting interpretations of pathogenicity|uncertain significance
NM_201525.4(ADGRG1):c.1787A>G (p.His596Arg) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121262]|not specified [RCV001819832] Chr16:57661819 [GRCh38]
Chr16:57695731 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.2048C>T (p.Ser683Leu) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121266]|not provided [RCV002556607] Chr16:57663566 [GRCh38]
Chr16:57697478 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.*877C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121361] Chr16:57664459 [GRCh38]
Chr16:57698371 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*918C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121364] Chr16:57664500 [GRCh38]
Chr16:57698412 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.*928G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121365] Chr16:57664510 [GRCh38]
Chr16:57698422 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1473del (p.Tyr492fs) deletion not provided [RCV001037005] Chr16:57659596 [GRCh38]
Chr16:57693508 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.*1365A>G single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117902] Chr16:57664947 [GRCh38]
Chr16:57698859 [GRCh37]
Chr16:16q21
benign
NC_000016.10:g.(?_57655389)_(57663592_?)del deletion not provided [RCV001031337] Chr16:57689301..57697504 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.1568T>A (p.Phe523Tyr) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001119258] Chr16:57660780 [GRCh38]
Chr16:57694692 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.87G>A (p.Arg29=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001117565]|not provided [RCV002069899] Chr16:57651222 [GRCh38]
Chr16:57685134 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.*888C>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001121362] Chr16:57664470 [GRCh38]
Chr16:57698382 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*69G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116344] Chr16:57663651 [GRCh38]
Chr16:57697563 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.*108G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116348]|not provided [RCV001577286] Chr16:57663690 [GRCh38]
Chr16:57697602 [GRCh37]
Chr16:16q21
benign|likely benign
NM_201525.4(ADGRG1):c.*139G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001116349] Chr16:57663721 [GRCh38]
Chr16:57697633 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.707C>T (p.Thr236Met) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV004799425] Chr16:57654072 [GRCh38]
Chr16:57687984 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.64+5G>A single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001264822] Chr16:57650356 [GRCh38]
Chr16:57684268 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.-36+219C>A single nucleotide variant not provided [RCV001641171] Chr16:57629021 [GRCh38]
Chr16:57662933 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001255739] Chr16:57661957 [GRCh38]
Chr16:57695869 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.-36+145_-36+146del microsatellite not provided [RCV001642103] Chr16:57628944..57628945 [GRCh38]
Chr16:57662856..57662857 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.709G>T (p.Val237Leu) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001331457] Chr16:57654074 [GRCh38]
Chr16:57687986 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1170C>A (p.Val390=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001277886]|not provided [RCV002069414] Chr16:57657375 [GRCh38]
Chr16:57691287 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.490C>A (p.Pro164Thr) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001832842]|not provided [RCV001663501] Chr16:57653205 [GRCh38]
Chr16:57687117 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1007A>G (p.Gln336Arg) single nucleotide variant not provided [RCV001288623] Chr16:57655982 [GRCh38]
Chr16:57689894 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.633C>T (p.Ser211=) single nucleotide variant not provided [RCV001392335] Chr16:57653998 [GRCh38]
Chr16:57687910 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.975C>T (p.Leu325=) single nucleotide variant not provided [RCV001415008] Chr16:57655950 [GRCh38]
Chr16:57689862 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.157G>C (p.Asp53His) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001835571]|Inborn genetic diseases [RCV004609755]|not provided [RCV001316588] Chr16:57651292 [GRCh38]
Chr16:57685204 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.732C>T (p.Ala244=) single nucleotide variant not provided [RCV001433708] Chr16:57654097 [GRCh38]
Chr16:57688009 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1934-4G>T single nucleotide variant not provided [RCV001433075] Chr16:57663448 [GRCh38]
Chr16:57697360 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.315T>C (p.Tyr105=) single nucleotide variant not provided [RCV001422784] Chr16:57651450 [GRCh38]
Chr16:57685362 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1207C>T (p.Leu403=) single nucleotide variant not provided [RCV001423084] Chr16:57657412 [GRCh38]
Chr16:57691324 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.15G>T (p.Ser5=) single nucleotide variant not provided [RCV001415114] Chr16:57650302 [GRCh38]
Chr16:57684214 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1183G>A (p.Val395Met) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001277887]|not provided [RCV002541666] Chr16:57657388 [GRCh38]
Chr16:57691300 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.620+11C>T single nucleotide variant Polymicrogyria, bilateral perisylvian, autosomal recessive [RCV001336857]|not provided [RCV003558816] Chr16:57653346 [GRCh38]
Chr16:57687258 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1556-5C>T single nucleotide variant not provided [RCV001394714] Chr16:57660763 [GRCh38]
Chr16:57694675 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.936C>G (p.Val312=) single nucleotide variant not provided [RCV001396307] Chr16:57655911 [GRCh38]
Chr16:57689823 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1561C>G (p.Pro521Ala) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001270379] Chr16:57660773 [GRCh38]
Chr16:57694685 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.549C>T (p.Leu183=) single nucleotide variant not provided [RCV001421303] Chr16:57653264 [GRCh38]
Chr16:57687176 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1016C>T (p.Pro339Leu) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001331456] Chr16:57655991 [GRCh38]
Chr16:57689903 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.579C>T (p.Pro193=) single nucleotide variant not provided [RCV001421374] Chr16:57653294 [GRCh38]
Chr16:57687206 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.900+1del deletion not provided [RCV001380156] Chr16:57655530 [GRCh38]
Chr16:57689442 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.901-7T>C single nucleotide variant not provided [RCV001473126] Chr16:57655869 [GRCh38]
Chr16:57689781 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.705C>T (p.Ala235=) single nucleotide variant not provided [RCV001398979] Chr16:57654070 [GRCh38]
Chr16:57687982 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.646C>T (p.Leu216=) single nucleotide variant not provided [RCV001490425] Chr16:57654011 [GRCh38]
Chr16:57687923 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.534G>A (p.Glu178=) single nucleotide variant not provided [RCV001420089] Chr16:57653249 [GRCh38]
Chr16:57687161 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1209G>A (p.Leu403=) single nucleotide variant ADGRG1-related disorder [RCV003956048]|not provided [RCV001475198] Chr16:57657414 [GRCh38]
Chr16:57691326 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1716C>T (p.Phe572=) single nucleotide variant not provided [RCV001492400] Chr16:57661748 [GRCh38]
Chr16:57695660 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1938C>T (p.Phe646=) single nucleotide variant not provided [RCV001465541] Chr16:57663456 [GRCh38]
Chr16:57697368 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1978C>A (p.Arg660=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001832651]|not provided [RCV001498905] Chr16:57663496 [GRCh38]
Chr16:57697408 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.351T>C (p.Ser117=) single nucleotide variant not provided [RCV001470887] Chr16:57651486 [GRCh38]
Chr16:57685398 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.795C>T (p.Tyr265=) single nucleotide variant not provided [RCV001473906] Chr16:57655425 [GRCh38]
Chr16:57689337 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.630G>A (p.Gln210=) single nucleotide variant not provided [RCV001455628] Chr16:57653995 [GRCh38]
Chr16:57687907 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.420C>T (p.Val140=) single nucleotide variant not provided [RCV001500313] Chr16:57651555 [GRCh38]
Chr16:57685467 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.114G>C (p.Arg38=) single nucleotide variant not provided [RCV001461956] Chr16:57651249 [GRCh38]
Chr16:57685161 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1933+9A>C single nucleotide variant not provided [RCV001452191] Chr16:57661974 [GRCh38]
Chr16:57695886 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.681C>T (p.Ser227=) single nucleotide variant not provided [RCV001439291] Chr16:57654046 [GRCh38]
Chr16:57687958 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1344C>T (p.Phe448=) single nucleotide variant ADGRG1-related disorder [RCV003930990]|not provided [RCV001479300] Chr16:57659470 [GRCh38]
Chr16:57693382 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1989C>T (p.Pro663=) single nucleotide variant not provided [RCV001476999] Chr16:57663507 [GRCh38]
Chr16:57697419 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.984C>T (p.Pro328=) single nucleotide variant not provided [RCV001442303] Chr16:57655959 [GRCh38]
Chr16:57689871 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1168-5G>A single nucleotide variant not provided [RCV001466054] Chr16:57657368 [GRCh38]
Chr16:57691280 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1644G>A (p.Glu548=) single nucleotide variant not provided [RCV001485752] Chr16:57660856 [GRCh38]
Chr16:57694768 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2046C>G (p.Thr682=) single nucleotide variant not provided [RCV001477938] Chr16:57663564 [GRCh38]
Chr16:57697476 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1224C>T (p.Tyr408=) single nucleotide variant not provided [RCV001456587] Chr16:57657429 [GRCh38]
Chr16:57691341 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1518C>A (p.Val506=) single nucleotide variant not provided [RCV001393287] Chr16:57659644 [GRCh38]
Chr16:57693556 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1074G>A (p.Pro358=) single nucleotide variant not provided [RCV001506061] Chr16:57656524 [GRCh38]
Chr16:57690436 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1611C>T (p.Gly537=) single nucleotide variant not provided [RCV001415972] Chr16:57660823 [GRCh38]
Chr16:57694735 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.123A>G (p.Thr41=) single nucleotide variant not provided [RCV001429302] Chr16:57651258 [GRCh38]
Chr16:57685170 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1239C>G (p.Val413=) single nucleotide variant ADGRG1-related disorder [RCV003938848]|not provided [RCV001474741] Chr16:57657444 [GRCh38]
Chr16:57691356 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1299G>A (p.Arg433=) single nucleotide variant not provided [RCV001398534] Chr16:57659425 [GRCh38]
Chr16:57693337 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.922C>T (p.Leu308=) single nucleotide variant not provided [RCV001478441] Chr16:57655897 [GRCh38]
Chr16:57689809 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.33G>C (p.Leu11=) single nucleotide variant not provided [RCV001478444] Chr16:57650320 [GRCh38]
Chr16:57684232 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1833G>C (p.Leu611=) single nucleotide variant not provided [RCV001498661] Chr16:57661865 [GRCh38]
Chr16:57695777 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.462C>T (p.Ala154=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001832604]|not provided [RCV001464612] Chr16:57651597 [GRCh38]
Chr16:57685509 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.621-5G>T single nucleotide variant not provided [RCV001443256] Chr16:57653981 [GRCh38]
Chr16:57687893 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1656C>T (p.Tyr552=) single nucleotide variant not provided [RCV001443326] Chr16:57660868 [GRCh38]
Chr16:57694780 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1018-10G>A single nucleotide variant not provided [RCV001417176] Chr16:57656216 [GRCh38]
Chr16:57690128 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1553G>A (p.Trp518Ter) single nucleotide variant not provided [RCV001387450] Chr16:57659679 [GRCh38]
Chr16:57693591 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.162G>A (p.Leu54=) single nucleotide variant not provided [RCV001446349] Chr16:57651297 [GRCh38]
Chr16:57685209 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1104C>T (p.Thr368=) single nucleotide variant not provided [RCV001407045] Chr16:57656554 [GRCh38]
Chr16:57690466 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1542C>T (p.Ser514=) single nucleotide variant not provided [RCV001437337] Chr16:57659668 [GRCh38]
Chr16:57693580 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.798G>A (p.Ser266=) single nucleotide variant not provided [RCV001410064] Chr16:57655428 [GRCh38]
Chr16:57689340 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1278C>T (p.Leu426=) single nucleotide variant not provided [RCV001415608] Chr16:57657483 [GRCh38]
Chr16:57691395 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1555+7G>T single nucleotide variant not provided [RCV001446720] Chr16:57659688 [GRCh38]
Chr16:57693600 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1176G>A (p.Ser392=) single nucleotide variant not provided [RCV001449299] Chr16:57657381 [GRCh38]
Chr16:57691293 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.882C>T (p.Ser294=) single nucleotide variant not provided [RCV001410631] Chr16:57655512 [GRCh38]
Chr16:57689424 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1170C>G (p.Val390=) single nucleotide variant not provided [RCV001419096] Chr16:57657375 [GRCh38]
Chr16:57691287 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1869C>G (p.Ser623=) single nucleotide variant not provided [RCV001418661] Chr16:57661901 [GRCh38]
Chr16:57695813 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.108C>T (p.Ser36=) single nucleotide variant not provided [RCV001399961] Chr16:57651243 [GRCh38]
Chr16:57685155 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1812G>A (p.Leu604=) single nucleotide variant not provided [RCV001437827] Chr16:57661844 [GRCh38]
Chr16:57695756 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.993C>T (p.Leu331=) single nucleotide variant not provided [RCV001405675] Chr16:57655968 [GRCh38]
Chr16:57689880 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2031C>T (p.Ile677=) single nucleotide variant not provided [RCV001428957] Chr16:57663549 [GRCh38]
Chr16:57697461 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1485C>T (p.Tyr495=) single nucleotide variant not provided [RCV001445125] Chr16:57659611 [GRCh38]
Chr16:57693523 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1080T>C (p.His360=) single nucleotide variant not provided [RCV001440209] Chr16:57656530 [GRCh38]
Chr16:57690442 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2058C>A (p.Arg686=) single nucleotide variant not provided [RCV001419484] Chr16:57663576 [GRCh38]
Chr16:57697488 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.603G>A (p.Ser201=) single nucleotide variant not provided [RCV001408541] Chr16:57653318 [GRCh38]
Chr16:57687230 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.901-10A>G single nucleotide variant not provided [RCV001445503] Chr16:57655866 [GRCh38]
Chr16:57689778 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1032G>A (p.Leu344=) single nucleotide variant not provided [RCV001448238] Chr16:57656240 [GRCh38]
Chr16:57690152 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.258C>A (p.Gly86=) single nucleotide variant not provided [RCV001400449] Chr16:57651393 [GRCh38]
Chr16:57685305 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1101G>A (p.Glu367=) single nucleotide variant not provided [RCV001411520] Chr16:57656551 [GRCh38]
Chr16:57690463 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1077G>A (p.Gly359=) single nucleotide variant not provided [RCV001406567] Chr16:57656527 [GRCh38]
Chr16:57690439 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.620+10G>C single nucleotide variant not provided [RCV001411551] Chr16:57653345 [GRCh38]
Chr16:57687257 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.798G>C (p.Ser266=) single nucleotide variant not provided [RCV001409378] Chr16:57655428 [GRCh38]
Chr16:57689340 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.252C>A (p.Pro84=) single nucleotide variant not provided [RCV001457160] Chr16:57651387 [GRCh38]
Chr16:57685299 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1167+9C>A single nucleotide variant not provided [RCV001485978] Chr16:57656626 [GRCh38]
Chr16:57690538 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1933+268C>A single nucleotide variant not provided [RCV001684293] Chr16:57662233 [GRCh38]
Chr16:57696145 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1833G>A (p.Leu611=) single nucleotide variant not provided [RCV001486276] Chr16:57661865 [GRCh38]
Chr16:57695777 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.447C>T (p.Ile149=) single nucleotide variant not provided [RCV001506781] Chr16:57651582 [GRCh38]
Chr16:57685494 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.957C>T (p.Asn319=) single nucleotide variant not provided [RCV001482501] Chr16:57655932 [GRCh38]
Chr16:57689844 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.807G>A (p.Leu269=) single nucleotide variant not provided [RCV001458940] Chr16:57655437 [GRCh38]
Chr16:57689349 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1816C>G (p.Leu606Val) single nucleotide variant Inborn genetic diseases [RCV003339647]|not provided [RCV001458695] Chr16:57661848 [GRCh38]
Chr16:57695760 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.255G>A (p.Arg85=) single nucleotide variant not provided [RCV001458829] Chr16:57651390 [GRCh38]
Chr16:57685302 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.-35-277A>C single nucleotide variant not provided [RCV001591438] Chr16:57649976 [GRCh38]
Chr16:57683888 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.51C>T (p.Leu17=) single nucleotide variant not provided [RCV001452993] Chr16:57650338 [GRCh38]
Chr16:57684250 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.-36+147T>C single nucleotide variant not provided [RCV001618813] Chr16:57628949 [GRCh38]
Chr16:57662861 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1140C>T (p.Asn380=) single nucleotide variant not provided [RCV001488221] Chr16:57656590 [GRCh38]
Chr16:57690502 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1064-107A>G single nucleotide variant not provided [RCV001685987] Chr16:57656407 [GRCh38]
Chr16:57690319 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1200G>A (p.Lys400=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001832634]|not provided [RCV001485300] Chr16:57657405 [GRCh38]
Chr16:57691317 [GRCh37]
Chr16:16q21
likely benign
NC_000016.9:g.(?_57693297)_(57697504_?)del deletion not provided [RCV001379843] Chr16:57693297..57697504 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.64+10C>A single nucleotide variant not provided [RCV001489977] Chr16:57650361 [GRCh38]
Chr16:57684273 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.585G>A (p.Lys195=) single nucleotide variant not provided [RCV001416825] Chr16:57653300 [GRCh38]
Chr16:57687212 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.558C>A (p.Leu186=) single nucleotide variant not provided [RCV001419064] Chr16:57653273 [GRCh38]
Chr16:57687185 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1287G>A (p.Arg429=) single nucleotide variant not provided [RCV001494896] Chr16:57659413 [GRCh38]
Chr16:57693325 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.621-9C>G single nucleotide variant not provided [RCV001399593] Chr16:57653977 [GRCh38]
Chr16:57687889 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1986C>G (p.Gly662=) single nucleotide variant not provided [RCV001405826] Chr16:57663504 [GRCh38]
Chr16:57697416 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.978G>A (p.Thr326=) single nucleotide variant not provided [RCV001482931] Chr16:57655953 [GRCh38]
Chr16:57689865 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.510C>T (p.His170=) single nucleotide variant not provided [RCV001483025] Chr16:57653225 [GRCh38]
Chr16:57687137 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1119C>A (p.Thr373=) single nucleotide variant not provided [RCV001468679] Chr16:57656569 [GRCh38]
Chr16:57690481 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.839G>A (p.Arg280Gln) single nucleotide variant Inborn genetic diseases [RCV003160831]|not provided [RCV001453342] Chr16:57655469 [GRCh38]
Chr16:57689381 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1260C>T (p.Val420=) single nucleotide variant not provided [RCV001451475] Chr16:57657465 [GRCh38]
Chr16:57691377 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1665-4G>A single nucleotide variant not provided [RCV001484835] Chr16:57661693 [GRCh38]
Chr16:57695605 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.901-9T>C single nucleotide variant not provided [RCV001499005] Chr16:57655867 [GRCh38]
Chr16:57689779 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1995T>C (p.Pro665=) single nucleotide variant not provided [RCV001454421] Chr16:57663513 [GRCh38]
Chr16:57697425 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.860_861del (p.Arg287fs) microsatellite not provided [RCV001388817] Chr16:57655487..57655488 [GRCh38]
Chr16:57689399..57689400 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1809G>A (p.Val603=) single nucleotide variant not provided [RCV001480340] Chr16:57661841 [GRCh38]
Chr16:57695753 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1555+7G>C single nucleotide variant not provided [RCV001443191] Chr16:57659688 [GRCh38]
Chr16:57693600 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1560C>T (p.Phe520=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001826296]|not provided [RCV001467739] Chr16:57660772 [GRCh38]
Chr16:57694684 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.487+8A>G single nucleotide variant not provided [RCV001467741] Chr16:57651630 [GRCh38]
Chr16:57685542 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1755C>T (p.Thr585=) single nucleotide variant not provided [RCV001415565] Chr16:57661787 [GRCh38]
Chr16:57695699 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.603G>T (p.Ser201=) single nucleotide variant not provided [RCV001397817] Chr16:57653318 [GRCh38]
Chr16:57687230 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.729A>G (p.Thr243=) single nucleotide variant not provided [RCV001425354] Chr16:57654094 [GRCh38]
Chr16:57688006 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.450C>T (p.Ser150=) single nucleotide variant not provided [RCV001440710] Chr16:57651585 [GRCh38]
Chr16:57685497 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.840G>A (p.Arg280=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001832589]|not provided [RCV001454376] Chr16:57655470 [GRCh38]
Chr16:57689382 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1467C>T (p.Leu489=) single nucleotide variant ADGRG1-related disorder [RCV003938670]|not provided [RCV001398201] Chr16:57659593 [GRCh38]
Chr16:57693505 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.830C>T (p.Thr277Met) single nucleotide variant not provided [RCV001505420] Chr16:57655460 [GRCh38]
Chr16:57689372 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.366C>T (p.Phe122=) single nucleotide variant not provided [RCV001430221] Chr16:57651501 [GRCh38]
Chr16:57685413 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1122A>G (p.Gln374=) single nucleotide variant not provided [RCV001434712] Chr16:57656572 [GRCh38]
Chr16:57690484 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1992C>T (p.Ser664=) single nucleotide variant not provided [RCV001437078] Chr16:57663510 [GRCh38]
Chr16:57697422 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1113A>G (p.Arg371=) single nucleotide variant not provided [RCV001418181] Chr16:57656563 [GRCh38]
Chr16:57690475 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2049G>A (p.Ser683=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001832611]|not provided [RCV001468124] Chr16:57663567 [GRCh38]
Chr16:57697479 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1332G>C (p.Leu444=) single nucleotide variant not provided [RCV001454942] Chr16:57659458 [GRCh38]
Chr16:57693370 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1141C>T (p.His381Tyr) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001731171] Chr16:57656591 [GRCh38]
Chr16:57690503 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.1775G>T (p.Arg592Leu) single nucleotide variant not provided [RCV001760779] Chr16:57661807 [GRCh38]
Chr16:57695719 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1554G>C (p.Trp518Cys) single nucleotide variant not provided [RCV001758815] Chr16:57659680 [GRCh38]
Chr16:57693592 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.528G>A (p.Met176Ile) single nucleotide variant not provided [RCV001767883] Chr16:57653243 [GRCh38]
Chr16:57687155 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.526A>G (p.Met176Val) single nucleotide variant not provided [RCV001772930] Chr16:57653241 [GRCh38]
Chr16:57687153 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.268T>C (p.Phe90Leu) single nucleotide variant not provided [RCV001766863] Chr16:57651403 [GRCh38]
Chr16:57685315 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.41T>C (p.Leu14Pro) single nucleotide variant not provided [RCV001765070] Chr16:57650328 [GRCh38]
Chr16:57684240 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.757T>G (p.Ser253Ala) single nucleotide variant not specified [RCV001820320] Chr16:57654122 [GRCh38]
Chr16:57688034 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.900+1G>A single nucleotide variant not provided [RCV001970629] Chr16:57655531 [GRCh38]
Chr16:57689443 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.505G>T (p.Ala169Ser) single nucleotide variant not provided [RCV002044754] Chr16:57653220 [GRCh38]
Chr16:57687132 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1726T>C (p.Phe576Leu) single nucleotide variant not provided [RCV001968157] Chr16:57661758 [GRCh38]
Chr16:57695670 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.531C>A (p.Cys177Ter) single nucleotide variant not provided [RCV002007286] Chr16:57653246 [GRCh38]
Chr16:57687158 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1289G>A (p.Arg430Lys) single nucleotide variant not provided [RCV002005518] Chr16:57659415 [GRCh38]
Chr16:57693327 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.843_844delinsGT (p.Ser281_Gly282delinsArgTrp) indel not provided [RCV001914123] Chr16:57655473..57655474 [GRCh38]
Chr16:57689385..57689386 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.562C>T (p.Gln188Ter) single nucleotide variant not provided [RCV001965110] Chr16:57653277 [GRCh38]
Chr16:57687189 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1555+15G>T single nucleotide variant not provided [RCV002006189] Chr16:57659696 [GRCh38]
Chr16:57693608 [GRCh37]
Chr16:16q21
likely benign
NC_000016.9:g.(?_57684190)_(57685544_?)del deletion not provided [RCV001942292] Chr16:57684190..57685544 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.206C>T (p.Ala69Val) single nucleotide variant not provided [RCV002026923] Chr16:57651341 [GRCh38]
Chr16:57685253 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.-36+10576G>A single nucleotide variant not provided [RCV002000400] Chr16:57639378 [GRCh38]
Chr16:57673290 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1261A>G (p.Thr421Ala) single nucleotide variant not provided [RCV001943263] Chr16:57657466 [GRCh38]
Chr16:57691378 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.145A>G (p.Lys49Glu) single nucleotide variant not provided [RCV001926282] Chr16:57651280 [GRCh38]
Chr16:57685192 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.429dup (p.Trp144fs) duplication not provided [RCV002000127] Chr16:57651562..57651563 [GRCh38]
Chr16:57685474..57685475 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1298G>A (p.Arg433Gln) single nucleotide variant not provided [RCV001960947] Chr16:57659424 [GRCh38]
Chr16:57693336 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.268T>G (p.Phe90Val) single nucleotide variant not provided [RCV001963644] Chr16:57651403 [GRCh38]
Chr16:57685315 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1327del (p.Leu443fs) deletion not provided [RCV001951580] Chr16:57659452 [GRCh38]
Chr16:57693364 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.316G>A (p.Gly106Ser) single nucleotide variant not provided [RCV001991007] Chr16:57651451 [GRCh38]
Chr16:57685363 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.1805A>G (p.His602Arg) single nucleotide variant not provided [RCV002050749] Chr16:57661837 [GRCh38]
Chr16:57695749 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1192G>A (p.Val398Met) single nucleotide variant not provided [RCV001901841] Chr16:57657397 [GRCh38]
Chr16:57691309 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1665-3C>T single nucleotide variant not provided [RCV002048185] Chr16:57661694 [GRCh38]
Chr16:57695606 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.739C>T (p.Gln247Ter) single nucleotide variant not provided [RCV001994529] Chr16:57654104 [GRCh38]
Chr16:57688016 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1460_1461inv (p.Met487Thr) inversion not provided [RCV002011182] Chr16:57659586..57659587 [GRCh38]
Chr16:57693498..57693499 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.64+5del deletion not provided [RCV001993605] Chr16:57650355 [GRCh38]
Chr16:57684267 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.781G>A (p.Glu261Lys) single nucleotide variant not provided [RCV002018231] Chr16:57655411 [GRCh38]
Chr16:57689323 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1384del (p.Ala461_Leu462insTer) deletion not provided [RCV001904030] Chr16:57659508 [GRCh38]
Chr16:57693420 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.621-1G>T single nucleotide variant not provided [RCV002027480] Chr16:57653985 [GRCh38]
Chr16:57687897 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.845G>A (p.Gly282Glu) single nucleotide variant not provided [RCV001981562] Chr16:57655475 [GRCh38]
Chr16:57689387 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1468G>A (p.Glu490Lys) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV003328489]|not provided [RCV002034421] Chr16:57659594 [GRCh38]
Chr16:57693506 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_201525.4(ADGRG1):c.1933+2del deletion not provided [RCV001955570] Chr16:57661967 [GRCh38]
Chr16:57695879 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.768+300_768+301dup duplication not provided [RCV001635587] Chr16:57654422..57654423 [GRCh38]
Chr16:57688334..57688335 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1933+287A>G single nucleotide variant not provided [RCV001637723] Chr16:57662252 [GRCh38]
Chr16:57696164 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.-35-8727C>T single nucleotide variant not provided [RCV001614840] Chr16:57641526 [GRCh38]
Chr16:57675438 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.768+282C>A single nucleotide variant not provided [RCV001668105] Chr16:57654415 [GRCh38]
Chr16:57688327 [GRCh37]
Chr16:16q21
benign
GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1 copy number loss not provided [RCV001259855] Chr16:57292407..59103985 [GRCh37]
Chr16:16q13-21
uncertain significance
NM_201525.4(ADGRG1):c.1896C>T (p.Val632=) single nucleotide variant not provided [RCV001426262] Chr16:57661928 [GRCh38]
Chr16:57695840 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.977C>T (p.Thr326Met) single nucleotide variant Inborn genetic diseases [RCV002552666]|not provided [RCV001394094] Chr16:57655952 [GRCh38]
Chr16:57689864 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.933G>A (p.Lys311=) single nucleotide variant not provided [RCV001412211] Chr16:57655908 [GRCh38]
Chr16:57689820 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.921C>A (p.Val307=) single nucleotide variant not provided [RCV001427552] Chr16:57655896 [GRCh38]
Chr16:57689808 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2036C>T (p.Ser679Leu) single nucleotide variant not provided [RCV001508409] Chr16:57663554 [GRCh38]
Chr16:57697466 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.769-80GT[9] microsatellite not provided [RCV001687092] Chr16:57655318..57655319 [GRCh38]
Chr16:57689230..57689231 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.901-5T>C single nucleotide variant not provided [RCV001419360] Chr16:57655871 [GRCh38]
Chr16:57689783 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.96T>C (p.Phe32=) single nucleotide variant not provided [RCV001495984] Chr16:57651231 [GRCh38]
Chr16:57685143 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.831G>A (p.Thr277=) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV001832597]|not provided [RCV001459639] Chr16:57655461 [GRCh38]
Chr16:57689373 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.317G>A (p.Gly106Asp) single nucleotide variant not provided [RCV002008689] Chr16:57651452 [GRCh38]
Chr16:57685364 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.37del (p.Leu13fs) deletion not provided [RCV001909008] Chr16:57650323 [GRCh38]
Chr16:57684235 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1006C>T (p.Gln336Ter) single nucleotide variant not provided [RCV001956453] Chr16:57655981 [GRCh38]
Chr16:57689893 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1900del (p.Leu634fs) deletion not provided [RCV001915995] Chr16:57661931 [GRCh38]
Chr16:57695843 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1287-7C>T single nucleotide variant not provided [RCV001877550] Chr16:57659406 [GRCh38]
Chr16:57693318 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.652T>C (p.Ser218Pro) single nucleotide variant not provided [RCV001875651] Chr16:57654017 [GRCh38]
Chr16:57687929 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.889G>A (p.Ala297Thr) single nucleotide variant not provided [RCV001955247] Chr16:57655519 [GRCh38]
Chr16:57689431 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1176G>C (p.Ser392=) single nucleotide variant not provided [RCV002087342] Chr16:57657381 [GRCh38]
Chr16:57691293 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1869C>T (p.Ser623=) single nucleotide variant not provided [RCV002189192] Chr16:57661901 [GRCh38]
Chr16:57695813 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.864C>T (p.Leu288=) single nucleotide variant not provided [RCV002090708] Chr16:57655494 [GRCh38]
Chr16:57689406 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.285C>T (p.Asn95=) single nucleotide variant ADGRG1-related disorder [RCV004757520]|not provided [RCV002145538] Chr16:57651420 [GRCh38]
Chr16:57685332 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1017+7G>C single nucleotide variant not provided [RCV002086822] Chr16:57655999 [GRCh38]
Chr16:57689911 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.495C>G (p.Pro165=) single nucleotide variant not provided [RCV002170355] Chr16:57653210 [GRCh38]
Chr16:57687122 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.463G>T (p.Ala155Ser) single nucleotide variant not provided [RCV002108094] Chr16:57651598 [GRCh38]
Chr16:57685510 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1566C>T (p.Ile522=) single nucleotide variant not provided [RCV002088248] Chr16:57660778 [GRCh38]
Chr16:57694690 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.57G>C (p.Leu19=) single nucleotide variant not provided [RCV002191104] Chr16:57650344 [GRCh38]
Chr16:57684256 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1064-18G>A single nucleotide variant not provided [RCV002129500] Chr16:57656496 [GRCh38]
Chr16:57690408 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.816A>G (p.Thr272=) single nucleotide variant not provided [RCV002086258] Chr16:57655446 [GRCh38]
Chr16:57689358 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.348C>T (p.Ala116=) single nucleotide variant not provided [RCV002196591] Chr16:57651483 [GRCh38]
Chr16:57685395 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1556-5dup duplication not provided [RCV002080072] Chr16:57660760..57660761 [GRCh38]
Chr16:57694672..57694673 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1383C>G (p.Ala461=) single nucleotide variant not provided [RCV002212718] Chr16:57659509 [GRCh38]
Chr16:57693421 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.291T>C (p.His97=) single nucleotide variant not provided [RCV002097548] Chr16:57651426 [GRCh38]
Chr16:57685338 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.753C>T (p.Ile251=) single nucleotide variant not provided [RCV002078014] Chr16:57654118 [GRCh38]
Chr16:57688030 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1528C>T (p.Leu510=) single nucleotide variant not provided [RCV002151576] Chr16:57659654 [GRCh38]
Chr16:57693566 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.159C>T (p.Asp53=) single nucleotide variant not provided [RCV002078037] Chr16:57651294 [GRCh38]
Chr16:57685206 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.480C>G (p.Ser160=) single nucleotide variant not provided [RCV002078134] Chr16:57651615 [GRCh38]
Chr16:57685527 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.488-9C>T single nucleotide variant not provided [RCV002167382] Chr16:57653194 [GRCh38]
Chr16:57687106 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.657G>A (p.Val219=) single nucleotide variant not provided [RCV002080788] Chr16:57654022 [GRCh38]
Chr16:57687934 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.330C>T (p.Phe110=) single nucleotide variant not provided [RCV002210627] Chr16:57651465 [GRCh38]
Chr16:57685377 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1149C>T (p.Thr383=) single nucleotide variant not provided [RCV002078900] Chr16:57656599 [GRCh38]
Chr16:57690511 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.621-8C>T single nucleotide variant not provided [RCV002151771] Chr16:57653978 [GRCh38]
Chr16:57687890 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1068C>T (p.Ser356=) single nucleotide variant not provided [RCV002110220] Chr16:57656518 [GRCh38]
Chr16:57690430 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.597G>A (p.Arg199=) single nucleotide variant not provided [RCV002212144] Chr16:57653312 [GRCh38]
Chr16:57687224 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1257T>C (p.Leu419=) single nucleotide variant not provided [RCV002135303] Chr16:57657462 [GRCh38]
Chr16:57691374 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.900+8G>T single nucleotide variant not provided [RCV002193965] Chr16:57655538 [GRCh38]
Chr16:57689450 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1173C>T (p.Ser391=) single nucleotide variant not provided [RCV002187915] Chr16:57657378 [GRCh38]
Chr16:57691290 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1665-10T>C single nucleotide variant not provided [RCV002132986] Chr16:57661687 [GRCh38]
Chr16:57695599 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.414T>C (p.Thr138=) single nucleotide variant not provided [RCV002193689] Chr16:57651549 [GRCh38]
Chr16:57685461 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.900+8G>A single nucleotide variant not provided [RCV002087025] Chr16:57655538 [GRCh38]
Chr16:57689450 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1064-6C>T single nucleotide variant not provided [RCV002080183] Chr16:57656508 [GRCh38]
Chr16:57690420 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.153A>C (p.Thr51=) single nucleotide variant not provided [RCV002150618] Chr16:57651288 [GRCh38]
Chr16:57685200 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1815A>G (p.Thr605=) single nucleotide variant not provided [RCV002145073] Chr16:57661847 [GRCh38]
Chr16:57695759 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1773G>A (p.Leu591=) single nucleotide variant not provided [RCV002094458] Chr16:57661805 [GRCh38]
Chr16:57695717 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.36C>T (p.Phe12=) single nucleotide variant not provided [RCV002170787] Chr16:57650323 [GRCh38]
Chr16:57684235 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.894G>C (p.Leu298=) single nucleotide variant not provided [RCV002078456] Chr16:57655524 [GRCh38]
Chr16:57689436 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.600C>T (p.Pro200=) single nucleotide variant not provided [RCV002078379] Chr16:57653315 [GRCh38]
Chr16:57687227 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.483C>T (p.Phe161=) single nucleotide variant not provided [RCV002192292] Chr16:57651618 [GRCh38]
Chr16:57685530 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1064-5C>T single nucleotide variant not provided [RCV002093848] Chr16:57656509 [GRCh38]
Chr16:57690421 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1933+16G>A single nucleotide variant not provided [RCV002110372] Chr16:57661981 [GRCh38]
Chr16:57695893 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1782C>A (p.Arg594=) single nucleotide variant not provided [RCV002215040] Chr16:57661814 [GRCh38]
Chr16:57695726 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.741G>A (p.Gln247=) single nucleotide variant not provided [RCV002159467] Chr16:57654106 [GRCh38]
Chr16:57688018 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1017+10G>T single nucleotide variant not provided [RCV002155661] Chr16:57656002 [GRCh38]
Chr16:57689914 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2046C>T (p.Thr682=) single nucleotide variant not provided [RCV002178344] Chr16:57663564 [GRCh38]
Chr16:57697476 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1860C>A (p.Ile620=) single nucleotide variant not provided [RCV002140085] Chr16:57661892 [GRCh38]
Chr16:57695804 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1020G>A (p.Lys340=) single nucleotide variant not provided [RCV002182797] Chr16:57656228 [GRCh38]
Chr16:57690140 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.225C>T (p.His75=) single nucleotide variant not provided [RCV002154027] Chr16:57651360 [GRCh38]
Chr16:57685272 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1107C>T (p.Val369=) single nucleotide variant not provided [RCV002154712] Chr16:57656557 [GRCh38]
Chr16:57690469 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1596T>C (p.Asp532=) single nucleotide variant not provided [RCV002176313] Chr16:57660808 [GRCh38]
Chr16:57694720 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1539G>A (p.Leu513=) single nucleotide variant not provided [RCV002181920] Chr16:57659665 [GRCh38]
Chr16:57693577 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.339T>C (p.Ser113=) single nucleotide variant not provided [RCV002220351] Chr16:57651474 [GRCh38]
Chr16:57685386 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.252C>T (p.Pro84=) single nucleotide variant not provided [RCV002180720] Chr16:57651387 [GRCh38]
Chr16:57685299 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1944C>T (p.Ile648=) single nucleotide variant not provided [RCV002103629] Chr16:57663462 [GRCh38]
Chr16:57697374 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1431C>T (p.His477=) single nucleotide variant not provided [RCV002158116] Chr16:57659557 [GRCh38]
Chr16:57693469 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1380G>A (p.Val460=) single nucleotide variant not provided [RCV002161773] Chr16:57659506 [GRCh38]
Chr16:57693418 [GRCh37]
Chr16:16q21
likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NM_201525.4(ADGRG1):c.1017+11dup duplication not provided [RCV002200729] Chr16:57655998..57655999 [GRCh38]
Chr16:57689910..57689911 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.1018-8C>T single nucleotide variant not provided [RCV002084369] Chr16:57656218 [GRCh38]
Chr16:57690130 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1063+7A>G single nucleotide variant not provided [RCV002082710] Chr16:57656278 [GRCh38]
Chr16:57690190 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.819C>A (p.Leu273=) single nucleotide variant not provided [RCV002218726] Chr16:57655449 [GRCh38]
Chr16:57689361 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.891C>T (p.Ala297=) single nucleotide variant not provided [RCV002220619] Chr16:57655521 [GRCh38]
Chr16:57689433 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1677G>A (p.Arg559=) single nucleotide variant not provided [RCV002179297] Chr16:57661709 [GRCh38]
Chr16:57695621 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.540A>G (p.Lys180=) single nucleotide variant not provided [RCV002181439] Chr16:57653255 [GRCh38]
Chr16:57687167 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.270C>T (p.Phe90=) single nucleotide variant not provided [RCV002200514] Chr16:57651405 [GRCh38]
Chr16:57685317 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1002G>A (p.Gln334=) single nucleotide variant not provided [RCV002181632] Chr16:57655977 [GRCh38]
Chr16:57689889 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1536G>A (p.Lys512=) single nucleotide variant not provided [RCV002099355] Chr16:57659662 [GRCh38]
Chr16:57693574 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1272C>A (p.Ala424=) single nucleotide variant not provided [RCV002176823] Chr16:57657477 [GRCh38]
Chr16:57691389 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.495C>A (p.Pro165=) single nucleotide variant not provided [RCV002083150] Chr16:57653210 [GRCh38]
Chr16:57687122 [GRCh37]
Chr16:16q21
likely benign
NC_000016.9:g.(?_56226148)_(58768132_?)del deletion Bardet-Biedl syndrome [RCV003119976]|Early infantile epileptic encephalopathy with suppression bursts [RCV003109791] Chr16:56226148..58768132 [GRCh37]
Chr16:16q12.2-21
pathogenic
NC_000016.9:g.(?_57684200)_(57685554_?)dup duplication not provided [RCV003116412] Chr16:57684200..57685554 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1524C>T (p.Gly508=) single nucleotide variant not provided [RCV003113946] Chr16:57659650 [GRCh38]
Chr16:57693562 [GRCh37]
Chr16:16q21
likely benign
NC_000016.9:g.(?_57016057)_(58768132_?)del deletion not provided [RCV003122679] Chr16:57016057..58768132 [GRCh37]
Chr16:16q13-21
pathogenic
NM_201525.4(ADGRG1):c.1965G>A (p.Met655Ile) single nucleotide variant not provided [RCV004791730]|not specified [RCV004783423] Chr16:57663483 [GRCh38]
Chr16:57697395 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1148C>T (p.Thr383Ile) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV002251002] Chr16:57656598 [GRCh38]
Chr16:57690510 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1671G>C (p.Trp557Cys) single nucleotide variant not provided [RCV002287147] Chr16:57661703 [GRCh38]
Chr16:57695615 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.619_620+2del deletion Abnormal cerebral morphology [RCV002275895] Chr16:57653334..57653337 [GRCh38]
Chr16:57687246..57687249 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1130G>A (p.Cys377Tyr) single nucleotide variant not provided [RCV002262518] Chr16:57656580 [GRCh38]
Chr16:57690492 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.580C>T (p.Gln194Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV002262171] Chr16:57653295 [GRCh38]
Chr16:57687207 [GRCh37]
Chr16:16q21
pathogenic
Single allele deletion not provided [RCV002266766] Chr16:53818483..57631312 [GRCh38]
Chr16:16q12.2-21
pathogenic
NM_201525.4(ADGRG1):c.458G>A (p.Ser153Asn) single nucleotide variant not provided [RCV002265334] Chr16:57651593 [GRCh38]
Chr16:57685505 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1969C>A (p.Leu657Met) single nucleotide variant not provided [RCV002296865] Chr16:57663487 [GRCh38]
Chr16:57697399 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1549G>T (p.Gly517Cys) single nucleotide variant not provided [RCV002287153] Chr16:57659675 [GRCh38]
Chr16:57693587 [GRCh37]
Chr16:16q21
uncertain significance
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 copy number gain not provided [RCV002472562] Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21
pathogenic
NM_201525.4(ADGRG1):c.1648G>A (p.Val550Ile) single nucleotide variant Inborn genetic diseases [RCV004065273]|not provided [RCV002994173] Chr16:57660860 [GRCh38]
Chr16:57694772 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1239C>T (p.Val413=) single nucleotide variant not provided [RCV002838688] Chr16:57657444 [GRCh38]
Chr16:57691356 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs) duplication Bilateral frontoparietal polymicrogyria [RCV002510612]|Polymicrogyria, bilateral perisylvian, autosomal recessive [RCV003340499] Chr16:57655984..57655985 [GRCh38]
Chr16:57689896..57689897 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.744C>T (p.Asp248=) single nucleotide variant not provided [RCV002902933] Chr16:57654109 [GRCh38]
Chr16:57688021 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.738C>T (p.Leu246=) single nucleotide variant not provided [RCV002861763] Chr16:57654103 [GRCh38]
Chr16:57688015 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1286+12_1286+22del deletion not provided [RCV002862788] Chr16:57657501..57657511 [GRCh38]
Chr16:57691413..57691423 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.203_206dup (p.Pro70fs) duplication not provided [RCV002613888] Chr16:57651336..57651337 [GRCh38]
Chr16:57685248..57685249 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.564G>T (p.Gln188His) single nucleotide variant not provided [RCV002615977] Chr16:57653279 [GRCh38]
Chr16:57687191 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.105C>T (p.Cys35=) single nucleotide variant not provided [RCV003015008] Chr16:57651240 [GRCh38]
Chr16:57685152 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1437C>T (p.Ser479=) single nucleotide variant not provided [RCV002820122] Chr16:57659563 [GRCh38]
Chr16:57693475 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.699C>T (p.Ile233=) single nucleotide variant not provided [RCV002881912] Chr16:57654064 [GRCh38]
Chr16:57687976 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1752C>T (p.Ala584=) single nucleotide variant not provided [RCV002881913] Chr16:57661784 [GRCh38]
Chr16:57695696 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.600C>A (p.Pro200=) single nucleotide variant not provided [RCV002843827] Chr16:57653315 [GRCh38]
Chr16:57687227 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1158_1162del (p.Val387fs) deletion not provided [RCV002843894] Chr16:57656605..57656609 [GRCh38]
Chr16:57690517..57690521 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1723G>A (p.Val575Met) single nucleotide variant not provided [RCV003034786] Chr16:57661755 [GRCh38]
Chr16:57695667 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1091C>T (p.Ala364Val) single nucleotide variant not provided [RCV002843753] Chr16:57656541 [GRCh38]
Chr16:57690453 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1412C>T (p.Ala471Val) single nucleotide variant not provided [RCV002996687] Chr16:57659538 [GRCh38]
Chr16:57693450 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1848C>G (p.Pro616=) single nucleotide variant not provided [RCV002862012] Chr16:57661880 [GRCh38]
Chr16:57695792 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2015G>C (p.Ser672Thr) single nucleotide variant Inborn genetic diseases [RCV002727356] Chr16:57663533 [GRCh38]
Chr16:57697445 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.213C>T (p.Phe71=) single nucleotide variant not provided [RCV003013869] Chr16:57651348 [GRCh38]
Chr16:57685260 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.98G>A (p.Arg33His) single nucleotide variant not provided [RCV002993538] Chr16:57651233 [GRCh38]
Chr16:57685145 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1665-20C>T single nucleotide variant not provided [RCV003075396] Chr16:57661677 [GRCh38]
Chr16:57695589 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1901T>G (p.Leu634Arg) single nucleotide variant Inborn genetic diseases [RCV002816800] Chr16:57661933 [GRCh38]
Chr16:57695845 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1095G>C (p.Gly365=) single nucleotide variant not provided [RCV002861910] Chr16:57656545 [GRCh38]
Chr16:57690457 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.215C>T (p.Pro72Leu) single nucleotide variant not provided [RCV003032877] Chr16:57651350 [GRCh38]
Chr16:57685262 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.812del (p.Arg271fs) deletion not provided [RCV002862982] Chr16:57655442 [GRCh38]
Chr16:57689354 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.487+19G>A single nucleotide variant not provided [RCV003081506] Chr16:57651641 [GRCh38]
Chr16:57685553 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.336G>C (p.Leu112=) single nucleotide variant not provided [RCV003021998] Chr16:57651471 [GRCh38]
Chr16:57685383 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.632G>A (p.Ser211Asn) single nucleotide variant not provided [RCV002705698] Chr16:57653997 [GRCh38]
Chr16:57687909 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1993C>T (p.Pro665Ser) single nucleotide variant Inborn genetic diseases [RCV002708272] Chr16:57663511 [GRCh38]
Chr16:57697423 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.870G>A (p.Leu290=) single nucleotide variant not provided [RCV002870824] Chr16:57655500 [GRCh38]
Chr16:57689412 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.357C>T (p.Leu119=) single nucleotide variant not provided [RCV002886277] Chr16:57651492 [GRCh38]
Chr16:57685404 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.654T>C (p.Ser218=) single nucleotide variant not provided [RCV002885157] Chr16:57654019 [GRCh38]
Chr16:57687931 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.588C>A (p.Ala196=) single nucleotide variant not provided [RCV002866963] Chr16:57653303 [GRCh38]
Chr16:57687215 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.488-7C>A single nucleotide variant not provided [RCV002636333] Chr16:57653196 [GRCh38]
Chr16:57687108 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1923C>G (p.Thr641=) single nucleotide variant not provided [RCV002735367] Chr16:57661955 [GRCh38]
Chr16:57695867 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.772G>T (p.Glu258Ter) single nucleotide variant not provided [RCV002866960] Chr16:57655402 [GRCh38]
Chr16:57689314 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1276C>G (p.Leu426Val) single nucleotide variant not provided [RCV002761249] Chr16:57657481 [GRCh38]
Chr16:57691393 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1991C>T (p.Ser664Phe) single nucleotide variant not provided [RCV003002544] Chr16:57663509 [GRCh38]
Chr16:57697421 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.78G>A (p.Arg26=) single nucleotide variant not provided [RCV003019291] Chr16:57651213 [GRCh38]
Chr16:57685125 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1874C>T (p.Ala625Val) single nucleotide variant not provided [RCV002638144] Chr16:57661906 [GRCh38]
Chr16:57695818 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1308C>T (p.Thr436=) single nucleotide variant not provided [RCV002866962] Chr16:57659434 [GRCh38]
Chr16:57693346 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1128C>G (p.Ser376=) single nucleotide variant not provided [RCV003017943] Chr16:57656578 [GRCh38]
Chr16:57690490 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1011A>G (p.Leu337=) single nucleotide variant not provided [RCV002976164] Chr16:57655986 [GRCh38]
Chr16:57689898 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1931A>G (p.Gln644Arg) single nucleotide variant not provided [RCV002620232] Chr16:57661963 [GRCh38]
Chr16:57695875 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1218C>T (p.Leu406=) single nucleotide variant not provided [RCV002691223] Chr16:57657423 [GRCh38]
Chr16:57691335 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1012C>T (p.Gln338Ter) single nucleotide variant not provided [RCV003017870] Chr16:57655987 [GRCh38]
Chr16:57689899 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.896dup (p.Gln300fs) duplication not provided [RCV003025519] Chr16:57655524..57655525 [GRCh38]
Chr16:57689436..57689437 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.2003G>A (p.Ser668Asn) single nucleotide variant Inborn genetic diseases [RCV002917097] Chr16:57663521 [GRCh38]
Chr16:57697433 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1979G>A (p.Arg660Gln) single nucleotide variant Inborn genetic diseases [RCV003093146]|not provided [RCV003084791] Chr16:57663497 [GRCh38]
Chr16:57697409 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.1443C>T (p.Leu481=) single nucleotide variant not provided [RCV003082736] Chr16:57659569 [GRCh38]
Chr16:57693481 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.621-4C>T single nucleotide variant not provided [RCV002596908] Chr16:57653982 [GRCh38]
Chr16:57687894 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1705C>T (p.Leu569=) single nucleotide variant not provided [RCV002643616] Chr16:57661737 [GRCh38]
Chr16:57695649 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1182G>A (p.Glu394=) single nucleotide variant not provided [RCV002642444] Chr16:57657387 [GRCh38]
Chr16:57691299 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1333C>T (p.Leu445=) single nucleotide variant not provided [RCV002643673] Chr16:57659459 [GRCh38]
Chr16:57693371 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.46C>T (p.Leu16=) single nucleotide variant not provided [RCV002872028] Chr16:57650333 [GRCh38]
Chr16:57684245 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.336G>A (p.Leu112=) single nucleotide variant not provided [RCV003022813] Chr16:57651471 [GRCh38]
Chr16:57685383 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.769-8C>G single nucleotide variant not provided [RCV003082521] Chr16:57655391 [GRCh38]
Chr16:57689303 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.239C>T (p.Ser80Phe) single nucleotide variant not provided [RCV002643530] Chr16:57651374 [GRCh38]
Chr16:57685286 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1818G>A (p.Leu606=) single nucleotide variant not provided [RCV002623740] Chr16:57661850 [GRCh38]
Chr16:57695762 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.154C>T (p.Pro52Ser) single nucleotide variant not provided [RCV003041280] Chr16:57651289 [GRCh38]
Chr16:57685201 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1422C>T (p.Ile474=) single nucleotide variant not provided [RCV002666583] Chr16:57659548 [GRCh38]
Chr16:57693460 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1354A>G (p.Thr452Ala) single nucleotide variant Inborn genetic diseases [RCV002931511] Chr16:57659480 [GRCh38]
Chr16:57693392 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.397C>T (p.Pro133Ser) single nucleotide variant not provided [RCV003005394] Chr16:57651532 [GRCh38]
Chr16:57685444 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.341A>G (p.Asp114Gly) single nucleotide variant Inborn genetic diseases [RCV002763911] Chr16:57651476 [GRCh38]
Chr16:57685388 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1942A>G (p.Ile648Val) single nucleotide variant not provided [RCV002596257] Chr16:57663460 [GRCh38]
Chr16:57697372 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.279C>A (p.Tyr93Ter) single nucleotide variant not provided [RCV002765562] Chr16:57651414 [GRCh38]
Chr16:57685326 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.206_209dup (p.Phe71fs) duplication not provided [RCV002852157] Chr16:57651340..57651341 [GRCh38]
Chr16:57685252..57685253 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1577C>T (p.Thr526Met) single nucleotide variant not provided [RCV002932768] Chr16:57660789 [GRCh38]
Chr16:57694701 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.613G>T (p.Ala205Ser) single nucleotide variant Inborn genetic diseases [RCV002763133] Chr16:57653328 [GRCh38]
Chr16:57687240 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1017+2T>A single nucleotide variant not provided [RCV002700482] Chr16:57655994 [GRCh38]
Chr16:57689906 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.500C>T (p.Thr167Met) single nucleotide variant Inborn genetic diseases [RCV003274183]|not provided [RCV003058829] Chr16:57653215 [GRCh38]
Chr16:57687127 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.2017G>A (p.Ala673Thr) single nucleotide variant Inborn genetic diseases [RCV002918970]|not provided [RCV002937897] Chr16:57663535 [GRCh38]
Chr16:57697447 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.487+18C>T single nucleotide variant not provided [RCV003058651] Chr16:57651640 [GRCh38]
Chr16:57685552 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.146A>T (p.Lys49Ile) single nucleotide variant Inborn genetic diseases [RCV002763638] Chr16:57651281 [GRCh38]
Chr16:57685193 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.892C>T (p.Leu298=) single nucleotide variant not provided [RCV002801105] Chr16:57655522 [GRCh38]
Chr16:57689434 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.493C>T (p.Pro165Ser) single nucleotide variant not provided [RCV002595365] Chr16:57653208 [GRCh38]
Chr16:57687120 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1131C>A (p.Cys377Ter) single nucleotide variant not provided [RCV002853017] Chr16:57656581 [GRCh38]
Chr16:57690493 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1056C>T (p.Asp352=) single nucleotide variant not provided [RCV002851266] Chr16:57656264 [GRCh38]
Chr16:57690176 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1934-8G>A single nucleotide variant not provided [RCV003031626] Chr16:57663444 [GRCh38]
Chr16:57697356 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.238T>A (p.Ser80Thr) single nucleotide variant not provided [RCV003092054] Chr16:57651373 [GRCh38]
Chr16:57685285 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.621-17T>C single nucleotide variant not provided [RCV002581844] Chr16:57653969 [GRCh38]
Chr16:57687881 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1063+9G>A single nucleotide variant not provided [RCV002857273] Chr16:57656280 [GRCh38]
Chr16:57690192 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1836C>T (p.Val612=) single nucleotide variant not provided [RCV003031204] Chr16:57661868 [GRCh38]
Chr16:57695780 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1793A>G (p.Gln598Arg) single nucleotide variant not provided [RCV002580629] Chr16:57661825 [GRCh38]
Chr16:57695737 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.876C>T (p.Asp292=) single nucleotide variant not provided [RCV002646851] Chr16:57655506 [GRCh38]
Chr16:57689418 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.105C>A (p.Cys35Ter) single nucleotide variant not provided [RCV003064349] Chr16:57651240 [GRCh38]
Chr16:57685152 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1612C>T (p.Pro538Ser) single nucleotide variant not provided [RCV002770874] Chr16:57660824 [GRCh38]
Chr16:57694736 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.720C>G (p.Leu240=) single nucleotide variant not provided [RCV003027789] Chr16:57654085 [GRCh38]
Chr16:57687997 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1287-6G>T single nucleotide variant not provided [RCV002577937] Chr16:57659407 [GRCh38]
Chr16:57693319 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.64+17G>A single nucleotide variant not provided [RCV003061370] Chr16:57650368 [GRCh38]
Chr16:57684280 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.768+10A>G single nucleotide variant not provided [RCV003047003] Chr16:57654143 [GRCh38]
Chr16:57688055 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.768+19C>A single nucleotide variant not provided [RCV002895813] Chr16:57654152 [GRCh38]
Chr16:57688064 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.737T>G (p.Leu246Arg) single nucleotide variant Inborn genetic diseases [RCV002703026] Chr16:57654102 [GRCh38]
Chr16:57688014 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1168-11C>T single nucleotide variant not provided [RCV003060414] Chr16:57657362 [GRCh38]
Chr16:57691274 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1278C>G (p.Leu426=) single nucleotide variant not provided [RCV002791894] Chr16:57657483 [GRCh38]
Chr16:57691395 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1530A>G (p.Leu510=) single nucleotide variant not provided [RCV002857752] Chr16:57659656 [GRCh38]
Chr16:57693568 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.651C>T (p.Thr217=) single nucleotide variant not provided [RCV003008466] Chr16:57654016 [GRCh38]
Chr16:57687928 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1978C>T (p.Arg660Trp) single nucleotide variant not provided [RCV002647749] Chr16:57663496 [GRCh38]
Chr16:57697408 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.912C>T (p.Ser304=) single nucleotide variant not provided [RCV002833762] Chr16:57655887 [GRCh38]
Chr16:57689799 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1017+7G>A single nucleotide variant not provided [RCV003011118] Chr16:57655999 [GRCh38]
Chr16:57689911 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.874del (p.Asp292fs) deletion not provided [RCV003029120] Chr16:57655503 [GRCh38]
Chr16:57689415 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1550G>C (p.Gly517Ala) single nucleotide variant Inborn genetic diseases [RCV002702634] Chr16:57659676 [GRCh38]
Chr16:57693588 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.621-19G>A single nucleotide variant not provided [RCV003064402] Chr16:57653967 [GRCh38]
Chr16:57687879 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1555+9T>C single nucleotide variant not provided [RCV002720051] Chr16:57659690 [GRCh38]
Chr16:57693602 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.-36+10592del deletion not provided [RCV002810138] Chr16:57639393 [GRCh38]
Chr16:57673305 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1503C>G (p.Val501=) single nucleotide variant not provided [RCV003009851] Chr16:57659629 [GRCh38]
Chr16:57693541 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.369G>T (p.Gln123His) single nucleotide variant not provided [RCV002650313] Chr16:57651504 [GRCh38]
Chr16:57685416 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1392C>G (p.Gly464=) single nucleotide variant not provided [RCV003045653] Chr16:57659518 [GRCh38]
Chr16:57693430 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.768+20A>C single nucleotide variant not provided [RCV002581845] Chr16:57654153 [GRCh38]
Chr16:57688065 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.488-3C>T single nucleotide variant Inborn genetic diseases [RCV002831369] Chr16:57653200 [GRCh38]
Chr16:57687112 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.290A>G (p.His97Arg) single nucleotide variant not provided [RCV003086314] Chr16:57651425 [GRCh38]
Chr16:57685337 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1676G>A (p.Arg559Gln) single nucleotide variant ADGRG1-related disorder [RCV004757568]|not provided [RCV002648037] Chr16:57661708 [GRCh38]
Chr16:57695620 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.418G>A (p.Val140Ile) single nucleotide variant not provided [RCV002627432] Chr16:57651553 [GRCh38]
Chr16:57685465 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.928G>A (p.Glu310Lys) single nucleotide variant not provided [RCV002654703] Chr16:57655903 [GRCh38]
Chr16:57689815 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.901-6A>G single nucleotide variant not provided [RCV003049653] Chr16:57655870 [GRCh38]
Chr16:57689782 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1578G>T (p.Thr526=) single nucleotide variant not provided [RCV003050417] Chr16:57660790 [GRCh38]
Chr16:57694702 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.613G>A (p.Ala205Thr) single nucleotide variant not provided [RCV003066903] Chr16:57653328 [GRCh38]
Chr16:57687240 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.838C>T (p.Arg280Trp) single nucleotide variant Inborn genetic diseases [RCV004614318]|not provided [RCV003066567] Chr16:57655468 [GRCh38]
Chr16:57689380 [GRCh37]
Chr16:16q21
benign|uncertain significance
NM_201525.4(ADGRG1):c.1966C>T (p.Arg656Trp) single nucleotide variant Inborn genetic diseases [RCV003066655]|not provided [RCV003052716] Chr16:57663484 [GRCh38]
Chr16:57697396 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.42G>A (p.Leu14=) single nucleotide variant not provided [RCV003032084] Chr16:57650329 [GRCh38]
Chr16:57684241 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.598C>T (p.Pro200Ser) single nucleotide variant not provided [RCV002585267] Chr16:57653313 [GRCh38]
Chr16:57687225 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.487+3A>G single nucleotide variant not provided [RCV002583545] Chr16:57651625 [GRCh38]
Chr16:57685537 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1339G>A (p.Val447Ile) single nucleotide variant not provided [RCV003073031] Chr16:57659465 [GRCh38]
Chr16:57693377 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1774C>A (p.Arg592=) single nucleotide variant not provided [RCV002633150] Chr16:57661806 [GRCh38]
Chr16:57695718 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1966C>A (p.Arg656=) single nucleotide variant not provided [RCV002587344] Chr16:57663484 [GRCh38]
Chr16:57697396 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1329G>C (p.Leu443=) single nucleotide variant not provided [RCV003069602] Chr16:57659455 [GRCh38]
Chr16:57693367 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1107C>G (p.Val369=) single nucleotide variant not provided [RCV002611832] Chr16:57656557 [GRCh38]
Chr16:57690469 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.218C>A (p.Ala73Glu) single nucleotide variant not provided [RCV003067235] Chr16:57651353 [GRCh38]
Chr16:57685265 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.453G>A (p.Leu151=) single nucleotide variant not provided [RCV002590193] Chr16:57651588 [GRCh38]
Chr16:57685500 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1450C>G (p.Leu484Val) single nucleotide variant Inborn genetic diseases [RCV003203876] Chr16:57659576 [GRCh38]
Chr16:57693488 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.209C>T (p.Pro70Leu) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV003328111] Chr16:57651344 [GRCh38]
Chr16:57685256 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1505T>C (p.Phe502Ser) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV003340934] Chr16:57659631 [GRCh38]
Chr16:57693543 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1888C>T (p.Gln630Ter) single nucleotide variant not provided [RCV001951176] Chr16:57661920 [GRCh38]
Chr16:57695832 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.684C>T (p.Phe228=) single nucleotide variant not provided [RCV001994915] Chr16:57654049 [GRCh38]
Chr16:57687961 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1933+15C>T single nucleotide variant not provided [RCV002125116] Chr16:57661980 [GRCh38]
Chr16:57695892 [GRCh37]
Chr16:16q21
benign
NM_201525.4(ADGRG1):c.2025C>A (p.Leu675=) single nucleotide variant not provided [RCV002114741] Chr16:57663543 [GRCh38]
Chr16:57697455 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1167+10C>T single nucleotide variant not provided [RCV002115552] Chr16:57656627 [GRCh38]
Chr16:57690539 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.321G>A (p.Lys107=) single nucleotide variant not provided [RCV002113778] Chr16:57651456 [GRCh38]
Chr16:57685368 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1998G>A (p.Leu666=) single nucleotide variant not provided [RCV002084071] Chr16:57663516 [GRCh38]
Chr16:57697428 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.901-10del deletion not provided [RCV002138653] Chr16:57655866 [GRCh38]
Chr16:57689778 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.672C>T (p.Asp224=) single nucleotide variant not provided [RCV002143210] Chr16:57654037 [GRCh38]
Chr16:57687949 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1168-8G>C single nucleotide variant not provided [RCV002880875] Chr16:57657365 [GRCh38]
Chr16:57691277 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.136C>T (p.Leu46Phe) single nucleotide variant not provided [RCV002640218] Chr16:57651271 [GRCh38]
Chr16:57685183 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1168-7G>C single nucleotide variant not provided [RCV003053723] Chr16:57657366 [GRCh38]
Chr16:57691278 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1897G>A (p.Val633Ile) single nucleotide variant Inborn genetic diseases [RCV002674571]|not provided [RCV004765738] Chr16:57661929 [GRCh38]
Chr16:57695841 [GRCh37]
Chr16:16q21
likely benign|uncertain significance
NM_201525.4(ADGRG1):c.57G>T (p.Leu19=) single nucleotide variant not provided [RCV003031751] Chr16:57650344 [GRCh38]
Chr16:57684256 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1555+2dup duplication Inborn genetic diseases [RCV002723300] Chr16:57659682..57659683 [GRCh38]
Chr16:57693594..57693595 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1716_1722dup (p.Val575fs) duplication Bilateral frontoparietal polymicrogyria [RCV003337740] Chr16:57661747..57661748 [GRCh38]
Chr16:57695659..57695660 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1574T>G (p.Val525Gly) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV003340927] Chr16:57660786 [GRCh38]
Chr16:57694698 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1079A>G (p.His360Arg) single nucleotide variant Inborn genetic diseases [RCV003357040] Chr16:57656529 [GRCh38]
Chr16:57690441 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2056C>T (p.Arg686Cys) single nucleotide variant Inborn genetic diseases [RCV003345228]|not provided [RCV003481493] Chr16:57663574 [GRCh38]
Chr16:57697486 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1189G>A (p.Ala397Thr) single nucleotide variant Inborn genetic diseases [RCV003365199] Chr16:57657394 [GRCh38]
Chr16:57691306 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.-36+10587C>T single nucleotide variant not provided [RCV003711728] Chr16:57639389 [GRCh38]
Chr16:57673301 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.65-15C>T single nucleotide variant not provided [RCV003569475] Chr16:57651185 [GRCh38]
Chr16:57685097 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1064-19C>T single nucleotide variant not provided [RCV003874023] Chr16:57656495 [GRCh38]
Chr16:57690407 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.951A>G (p.Val317=) single nucleotide variant not provided [RCV003569680] Chr16:57655926 [GRCh38]
Chr16:57689838 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.579C>G (p.Pro193=) single nucleotide variant not provided [RCV003569713] Chr16:57653294 [GRCh38]
Chr16:57687206 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1168-20C>G single nucleotide variant not provided [RCV003875256] Chr16:57657353 [GRCh38]
Chr16:57691265 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.768+9C>A single nucleotide variant not provided [RCV003543376] Chr16:57654142 [GRCh38]
Chr16:57688054 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.432G>A (p.Trp144Ter) single nucleotide variant not provided [RCV003570036] Chr16:57651567 [GRCh38]
Chr16:57685479 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.354C>T (p.Ser118=) single nucleotide variant not provided [RCV003570070] Chr16:57651489 [GRCh38]
Chr16:57685401 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.864_865insAC (p.Leu289fs) insertion not provided [RCV003570921] Chr16:57655493..57655494 [GRCh38]
Chr16:57689405..57689406 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1623G>A (p.Leu541=) single nucleotide variant not provided [RCV003874859] Chr16:57660835 [GRCh38]
Chr16:57694747 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1017+11G>C single nucleotide variant not provided [RCV003543720] Chr16:57656003 [GRCh38]
Chr16:57689915 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1933+14C>G single nucleotide variant not provided [RCV003568941] Chr16:57661979 [GRCh38]
Chr16:57695891 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1287-34C>T single nucleotide variant not provided [RCV003571614] Chr16:57659379 [GRCh38]
Chr16:57693291 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.768+16G>A single nucleotide variant not provided [RCV003872847] Chr16:57654149 [GRCh38]
Chr16:57688061 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1514A>G (p.Tyr505Cys) single nucleotide variant not provided [RCV003480189] Chr16:57659640 [GRCh38]
Chr16:57693552 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.485A>G (p.His162Arg) single nucleotide variant not provided [RCV003426717] Chr16:57651620 [GRCh38]
Chr16:57685532 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.531C>T (p.Cys177=) single nucleotide variant not provided [RCV003738816] Chr16:57653246 [GRCh38]
Chr16:57687158 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1287-38T>A single nucleotide variant not provided [RCV003739797] Chr16:57659375 [GRCh38]
Chr16:57693287 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.620+20C>T single nucleotide variant not provided [RCV003829364] Chr16:57653355 [GRCh38]
Chr16:57687267 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.195C>G (p.Leu65=) single nucleotide variant not provided [RCV003693411] Chr16:57651330 [GRCh38]
Chr16:57685242 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.769-19C>T single nucleotide variant not provided [RCV003693528] Chr16:57655380 [GRCh38]
Chr16:57689292 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.901-20C>T single nucleotide variant not provided [RCV003827488] Chr16:57655856 [GRCh38]
Chr16:57689768 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1168-5G>T single nucleotide variant not provided [RCV003849251] Chr16:57657368 [GRCh38]
Chr16:57691280 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.621-17T>A single nucleotide variant not provided [RCV003579011] Chr16:57653969 [GRCh38]
Chr16:57687881 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.900+16C>T single nucleotide variant not provided [RCV003831814] Chr16:57655546 [GRCh38]
Chr16:57689458 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.189G>A (p.Glu63=) single nucleotide variant not provided [RCV003714370] Chr16:57651324 [GRCh38]
Chr16:57685236 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.488-2A>G single nucleotide variant not provided [RCV003878344] Chr16:57653201 [GRCh38]
Chr16:57687113 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.1064-18G>C single nucleotide variant not provided [RCV003880098] Chr16:57656496 [GRCh38]
Chr16:57690408 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.903C>T (p.Asp301=) single nucleotide variant not provided [RCV003827616] Chr16:57655878 [GRCh38]
Chr16:57689790 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1167+15T>C single nucleotide variant not provided [RCV003577610] Chr16:57656632 [GRCh38]
Chr16:57690544 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.621-18C>T single nucleotide variant not provided [RCV003659914] Chr16:57653968 [GRCh38]
Chr16:57687880 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.235C>A (p.Arg79=) single nucleotide variant not provided [RCV003686918] Chr16:57651370 [GRCh38]
Chr16:57685282 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1833G>T (p.Leu611=) single nucleotide variant not provided [RCV003574530] Chr16:57661865 [GRCh38]
Chr16:57695777 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1347G>A (p.Leu449=) single nucleotide variant not provided [RCV003688378] Chr16:57659473 [GRCh38]
Chr16:57693385 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.606_615dup (p.Ser206fs) duplication not provided [RCV003686510] Chr16:57653319..57653320 [GRCh38]
Chr16:57687231..57687232 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1168-15G>C single nucleotide variant not provided [RCV003689926] Chr16:57657358 [GRCh38]
Chr16:57691270 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1686G>A (p.Leu562=) single nucleotide variant not provided [RCV003694074] Chr16:57661718 [GRCh38]
Chr16:57695630 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1556-20A>T single nucleotide variant not provided [RCV003695693] Chr16:57660748 [GRCh38]
Chr16:57694660 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.488-11C>T single nucleotide variant not provided [RCV003578078] Chr16:57653192 [GRCh38]
Chr16:57687104 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1517_1518dup (p.Pro507fs) duplication not provided [RCV003576921] Chr16:57659642..57659643 [GRCh38]
Chr16:57693554..57693555 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1272C>G (p.Ala424=) single nucleotide variant not provided [RCV003693502] Chr16:57657477 [GRCh38]
Chr16:57691389 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1167+20C>A single nucleotide variant not provided [RCV003688496] Chr16:57656637 [GRCh38]
Chr16:57690549 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.342C>T (p.Asp114=) single nucleotide variant not provided [RCV003716036] Chr16:57651477 [GRCh38]
Chr16:57685389 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.64+9T>C single nucleotide variant not provided [RCV003713226] Chr16:57650360 [GRCh38]
Chr16:57684272 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1327_1330del (p.Leu443fs) deletion not provided [RCV003716103] Chr16:57659452..57659455 [GRCh38]
Chr16:57693364..57693367 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.193del (p.Leu65fs) deletion not provided [RCV003575564] Chr16:57651326 [GRCh38]
Chr16:57685238 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1440G>T (p.Leu480=) single nucleotide variant not provided [RCV003714251] Chr16:57659566 [GRCh38]
Chr16:57693478 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.532_553del (p.Glu178fs) deletion not provided [RCV003827925] Chr16:57653245..57653266 [GRCh38]
Chr16:57687157..57687178 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.637_655del (p.Leu212_Glu213insTer) deletion not provided [RCV003714614] Chr16:57653999..57654017 [GRCh38]
Chr16:57687911..57687929 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.428G>A (p.Trp143Ter) single nucleotide variant not provided [RCV003662265] Chr16:57651563 [GRCh38]
Chr16:57685475 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1098_1099del (p.Cys366_Glu367delinsTer) microsatellite not provided [RCV003690367] Chr16:57656545..57656546 [GRCh38]
Chr16:57690457..57690458 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1092T>A (p.Ala364=) single nucleotide variant not provided [RCV003577039] Chr16:57656542 [GRCh38]
Chr16:57690454 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.900+17C>G single nucleotide variant not provided [RCV003831124] Chr16:57655547 [GRCh38]
Chr16:57689459 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1556-16G>A single nucleotide variant not provided [RCV003876103] Chr16:57660752 [GRCh38]
Chr16:57694664 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1665-12C>A single nucleotide variant not provided [RCV003662101] Chr16:57661685 [GRCh38]
Chr16:57695597 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1167+7G>T single nucleotide variant not provided [RCV003716099] Chr16:57656624 [GRCh38]
Chr16:57690536 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.65-18C>T single nucleotide variant not provided [RCV003880430] Chr16:57651182 [GRCh38]
Chr16:57685094 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.768+8G>A single nucleotide variant not provided [RCV003687721] Chr16:57654141 [GRCh38]
Chr16:57688053 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.621-15del deletion not provided [RCV003691984] Chr16:57653969 [GRCh38]
Chr16:57687881 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.396C>G (p.Gly132=) single nucleotide variant not provided [RCV003827796] Chr16:57651531 [GRCh38]
Chr16:57685443 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1287-35C>T single nucleotide variant not provided [RCV003571972] Chr16:57659378 [GRCh38]
Chr16:57693290 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1018-4A>G single nucleotide variant not provided [RCV003686471] Chr16:57656222 [GRCh38]
Chr16:57690134 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.769-17T>G single nucleotide variant not provided [RCV003879982] Chr16:57655382 [GRCh38]
Chr16:57689294 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1063+19C>T single nucleotide variant not provided [RCV003661331] Chr16:57656290 [GRCh38]
Chr16:57690202 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1933+19C>G single nucleotide variant not provided [RCV003665257] Chr16:57661984 [GRCh38]
Chr16:57695896 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.260del (p.Leu87fs) deletion not provided [RCV003580376] Chr16:57651395 [GRCh38]
Chr16:57685307 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1664+18A>G single nucleotide variant not provided [RCV003579871] Chr16:57660894 [GRCh38]
Chr16:57694806 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.264C>T (p.Tyr88=) single nucleotide variant not provided [RCV003834170] Chr16:57651399 [GRCh38]
Chr16:57685311 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.769-1G>A single nucleotide variant not provided [RCV003851817] Chr16:57655398 [GRCh38]
Chr16:57689310 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.987G>T (p.Val329=) single nucleotide variant not provided [RCV003549509] Chr16:57655962 [GRCh38]
Chr16:57689874 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1933+9A>G single nucleotide variant not provided [RCV003663811] Chr16:57661974 [GRCh38]
Chr16:57695886 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1063+18T>G single nucleotide variant not provided [RCV003834299] Chr16:57656289 [GRCh38]
Chr16:57690201 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.621-12C>T single nucleotide variant not provided [RCV003851956] Chr16:57653974 [GRCh38]
Chr16:57687886 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.488-8del deletion not provided [RCV003549950] Chr16:57653195 [GRCh38]
Chr16:57687107 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2058C>T (p.Arg686=) single nucleotide variant not provided [RCV003698278] Chr16:57663576 [GRCh38]
Chr16:57697488 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.519G>C (p.Ser173=) single nucleotide variant not provided [RCV003726918] Chr16:57653234 [GRCh38]
Chr16:57687146 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1380G>C (p.Val460=) single nucleotide variant not provided [RCV003550078] Chr16:57659506 [GRCh38]
Chr16:57693418 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.112C>G (p.Arg38Gly) single nucleotide variant not provided [RCV003701820] Chr16:57651247 [GRCh38]
Chr16:57685159 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1933+19C>T single nucleotide variant not provided [RCV003856093] Chr16:57661984 [GRCh38]
Chr16:57695896 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1805_1806del (p.His602fs) deletion not provided [RCV003703100] Chr16:57661837..57661838 [GRCh38]
Chr16:57695749..57695750 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1933+18C>A single nucleotide variant not provided [RCV003561871] Chr16:57661983 [GRCh38]
Chr16:57695895 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.588C>T (p.Ala196=) single nucleotide variant not provided [RCV003702184] Chr16:57653303 [GRCh38]
Chr16:57687215 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.768+20A>G single nucleotide variant not provided [RCV003832274] Chr16:57654153 [GRCh38]
Chr16:57688065 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1168-17del deletion not provided [RCV003839506] Chr16:57657355 [GRCh38]
Chr16:57691267 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.174C>A (p.Ile58=) single nucleotide variant not provided [RCV003580250] Chr16:57651309 [GRCh38]
Chr16:57685221 [GRCh37]
Chr16:16q21
likely benign
NC_000016.10:g.57655876del deletion not provided [RCV003673578] Chr16:57655875 [GRCh38]
Chr16:57689787 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.620+12A>G single nucleotide variant not provided [RCV003669600] Chr16:57653347 [GRCh38]
Chr16:57687259 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1792C>T (p.Gln598Ter) single nucleotide variant not provided [RCV003701993] Chr16:57661824 [GRCh38]
Chr16:57695736 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1168-14T>G single nucleotide variant not provided [RCV003703280] Chr16:57657359 [GRCh38]
Chr16:57691271 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.993C>G (p.Leu331=) single nucleotide variant not provided [RCV003550027] Chr16:57655968 [GRCh38]
Chr16:57689880 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1167+16C>T single nucleotide variant not provided [RCV003726438] Chr16:57656633 [GRCh38]
Chr16:57690545 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.769-20C>A single nucleotide variant not provided [RCV003813884] Chr16:57655379 [GRCh38]
Chr16:57689291 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.543G>A (p.Arg181=) single nucleotide variant not provided [RCV003549408] Chr16:57653258 [GRCh38]
Chr16:57687170 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1248G>A (p.Leu416=) single nucleotide variant not provided [RCV003558298] Chr16:57657453 [GRCh38]
Chr16:57691365 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1575G>C (p.Val525=) single nucleotide variant not provided [RCV003724058] Chr16:57660787 [GRCh38]
Chr16:57694699 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.198A>G (p.Thr66=) single nucleotide variant not provided [RCV003700431] Chr16:57651333 [GRCh38]
Chr16:57685245 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.57G>A (p.Leu19=) single nucleotide variant not provided [RCV003558009] Chr16:57650344 [GRCh38]
Chr16:57684256 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.867C>T (p.Leu289=) single nucleotide variant not provided [RCV003815816] Chr16:57655497 [GRCh38]
Chr16:57689409 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.456del (p.Ser153fs) deletion not provided [RCV003833113] Chr16:57651589 [GRCh38]
Chr16:57685501 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1064-2A>G single nucleotide variant not provided [RCV003664653] Chr16:57656512 [GRCh38]
Chr16:57690424 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.357C>A (p.Leu119=) single nucleotide variant not provided [RCV003549916] Chr16:57651492 [GRCh38]
Chr16:57685404 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.769-11G>A single nucleotide variant not provided [RCV003854997] Chr16:57655388 [GRCh38]
Chr16:57689300 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.488-17G>A single nucleotide variant not provided [RCV003666596] Chr16:57653186 [GRCh38]
Chr16:57687098 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.64+11C>T single nucleotide variant not provided [RCV003843348] Chr16:57650362 [GRCh38]
Chr16:57684274 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1827C>T (p.Leu609=) single nucleotide variant not provided [RCV003846276] Chr16:57661859 [GRCh38]
Chr16:57695771 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.456C>T (p.Pro152=) single nucleotide variant not provided [RCV003681040] Chr16:57651591 [GRCh38]
Chr16:57685503 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1933+20C>T single nucleotide variant not provided [RCV003704697] Chr16:57661985 [GRCh38]
Chr16:57695897 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2037G>C (p.Ser679=) single nucleotide variant not provided [RCV003710368] Chr16:57663555 [GRCh38]
Chr16:57697467 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1064-16G>A single nucleotide variant not provided [RCV003555224] Chr16:57656498 [GRCh38]
Chr16:57690410 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1920C>T (p.Ile640=) single nucleotide variant not provided [RCV003704072] Chr16:57661952 [GRCh38]
Chr16:57695864 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1014G>A (p.Gln338=) single nucleotide variant not provided [RCV003564520] Chr16:57655989 [GRCh38]
Chr16:57689901 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.315T>G (p.Tyr105Ter) single nucleotide variant not provided [RCV003552339] Chr16:57651450 [GRCh38]
Chr16:57685362 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1286+13A>G single nucleotide variant not provided [RCV003551585] Chr16:57657504 [GRCh38]
Chr16:57691416 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1911C>T (p.Phe637=) single nucleotide variant not provided [RCV003552722] Chr16:57661943 [GRCh38]
Chr16:57695855 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.31C>T (p.Leu11=) single nucleotide variant not provided [RCV003566586] Chr16:57650318 [GRCh38]
Chr16:57684230 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1286+17G>A single nucleotide variant not provided [RCV003735797] Chr16:57657508 [GRCh38]
Chr16:57691420 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1933+20C>G single nucleotide variant not provided [RCV003678847] Chr16:57661985 [GRCh38]
Chr16:57695897 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1287-33A>G single nucleotide variant not provided [RCV003567421] Chr16:57659380 [GRCh38]
Chr16:57693292 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.2007C>T (p.Asn669=) single nucleotide variant not provided [RCV003565864] Chr16:57663525 [GRCh38]
Chr16:57697437 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.696G>A (p.Arg232=) single nucleotide variant not provided [RCV003678325] Chr16:57654061 [GRCh38]
Chr16:57687973 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.488-4C>T single nucleotide variant not provided [RCV003568462] Chr16:57653199 [GRCh38]
Chr16:57687111 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.726C>A (p.Pro242=) single nucleotide variant not provided [RCV003711749] Chr16:57654091 [GRCh38]
Chr16:57688003 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.900+8G>C single nucleotide variant not provided [RCV003705534] Chr16:57655538 [GRCh38]
Chr16:57689450 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.670dup (p.Asp224fs) duplication not provided [RCV003568400] Chr16:57654030..57654031 [GRCh38]
Chr16:57687942..57687943 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1845G>A (p.Leu615=) single nucleotide variant not provided [RCV003680190] Chr16:57661877 [GRCh38]
Chr16:57695789 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1064-19C>G single nucleotide variant not provided [RCV003684001] Chr16:57656495 [GRCh38]
Chr16:57690407 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1555+20G>A single nucleotide variant not provided [RCV003722221] Chr16:57659701 [GRCh38]
Chr16:57693613 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.768+12G>A single nucleotide variant not provided [RCV003735026] Chr16:57654145 [GRCh38]
Chr16:57688057 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1710C>A (p.Gly570=) single nucleotide variant not provided [RCV003867472] Chr16:57661742 [GRCh38]
Chr16:57695654 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.312C>T (p.Leu104=) single nucleotide variant not provided [RCV003711886] Chr16:57651447 [GRCh38]
Chr16:57685359 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.769-19C>A single nucleotide variant not provided [RCV003722441] Chr16:57655380 [GRCh38]
Chr16:57689292 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1168-18C>G single nucleotide variant not provided [RCV003563678] Chr16:57657355 [GRCh38]
Chr16:57691267 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1064-15C>T single nucleotide variant not provided [RCV003721124] Chr16:57656499 [GRCh38]
Chr16:57690411 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.64+16G>A single nucleotide variant not provided [RCV003728599] Chr16:57650367 [GRCh38]
Chr16:57684279 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.901-11C>T single nucleotide variant not provided [RCV003562713] Chr16:57655865 [GRCh38]
Chr16:57689777 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1934-20C>T single nucleotide variant not provided [RCV003737546] Chr16:57663432 [GRCh38]
Chr16:57697344 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1064-11C>T single nucleotide variant not provided [RCV003736103] Chr16:57656503 [GRCh38]
Chr16:57690415 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1491C>G (p.Leu497=) single nucleotide variant not provided [RCV003683456] Chr16:57659617 [GRCh38]
Chr16:57693529 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1287-22C>T single nucleotide variant not provided [RCV003567410] Chr16:57659391 [GRCh38]
Chr16:57693303 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.14C>A (p.Ser5Ter) single nucleotide variant not provided [RCV003872177] Chr16:57650301 [GRCh38]
Chr16:57684213 [GRCh37]
Chr16:16q21
pathogenic
GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1 copy number loss not specified [RCV003987196] Chr16:55329260..67180113 [GRCh37]
Chr16:16q12.2-22.1
pathogenic
NM_201525.4(ADGRG1):c.1641A>G (p.Pro547=) single nucleotide variant not provided [RCV003683961] Chr16:57660853 [GRCh38]
Chr16:57694765 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1363C>T (p.Leu455=) single nucleotide variant not provided [RCV003677193] Chr16:57659489 [GRCh38]
Chr16:57693401 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.51C>G (p.Leu17=) single nucleotide variant not provided [RCV003721144] Chr16:57650338 [GRCh38]
Chr16:57684250 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1287-29T>G single nucleotide variant not provided [RCV003737413] Chr16:57659384 [GRCh38]
Chr16:57693296 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1555+14C>T single nucleotide variant not provided [RCV003737448] Chr16:57659695 [GRCh38]
Chr16:57693607 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.936C>T (p.Val312=) single nucleotide variant not provided [RCV003721304] Chr16:57655911 [GRCh38]
Chr16:57689823 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1017+8G>C single nucleotide variant not provided [RCV003723189] Chr16:57656000 [GRCh38]
Chr16:57689912 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1168-8_1174del deletion not provided [RCV003723215] Chr16:57657358..57657372 [GRCh38]
Chr16:57691270..57691284 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.1934-12C>T single nucleotide variant not provided [RCV003858454] Chr16:57663440 [GRCh38]
Chr16:57697352 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.488-11C>A single nucleotide variant not provided [RCV003867713] Chr16:57653192 [GRCh38]
Chr16:57687104 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1345C>T (p.Leu449=) single nucleotide variant not provided [RCV003737688] Chr16:57659471 [GRCh38]
Chr16:57693383 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1665-13C>A single nucleotide variant not provided [RCV003677972] Chr16:57661684 [GRCh38]
Chr16:57695596 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1086C>T (p.Ser362=) single nucleotide variant not provided [RCV003863960] Chr16:57656536 [GRCh38]
Chr16:57690448 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.297G>A (p.Gly99=) single nucleotide variant not provided [RCV003681082] Chr16:57651432 [GRCh38]
Chr16:57685344 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1018-19T>C single nucleotide variant not provided [RCV003555506] Chr16:57656207 [GRCh38]
Chr16:57690119 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.769-12G>A single nucleotide variant not provided [RCV003730926] Chr16:57655387 [GRCh38]
Chr16:57689299 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1933+13C>T single nucleotide variant not provided [RCV003707280] Chr16:57661978 [GRCh38]
Chr16:57695890 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1476C>T (p.Tyr492=) single nucleotide variant not provided [RCV003675814] Chr16:57659602 [GRCh38]
Chr16:57693514 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1933+1G>T single nucleotide variant not provided [RCV003840765] Chr16:57661966 [GRCh38]
Chr16:57695878 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1555+15G>A single nucleotide variant not provided [RCV003732533] Chr16:57659696 [GRCh38]
Chr16:57693608 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1110G>A (p.Arg370=) single nucleotide variant not provided [RCV003567792] Chr16:57656560 [GRCh38]
Chr16:57690472 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.24G>A (p.Gln8=) single nucleotide variant not provided [RCV003844984] Chr16:57650311 [GRCh38]
Chr16:57684223 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1665-20C>A single nucleotide variant not provided [RCV003542703] Chr16:57661677 [GRCh38]
Chr16:57695589 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1287-36C>A single nucleotide variant not provided [RCV003562563] Chr16:57659377 [GRCh38]
Chr16:57693289 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.207C>T (p.Ala69=) single nucleotide variant not provided [RCV003729920] Chr16:57651342 [GRCh38]
Chr16:57685254 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1018-8C>G single nucleotide variant not provided [RCV003562638] Chr16:57656218 [GRCh38]
Chr16:57690130 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1287-36C>T single nucleotide variant not provided [RCV003866386] Chr16:57659377 [GRCh38]
Chr16:57693289 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1017+20C>G single nucleotide variant not provided [RCV003822529] Chr16:57656012 [GRCh38]
Chr16:57689924 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.990G>C (p.Val330=) single nucleotide variant not provided [RCV003823384] Chr16:57655965 [GRCh38]
Chr16:57689877 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.96del (p.Arg33fs) deletion not provided [RCV003704448] Chr16:57651229 [GRCh38]
Chr16:57685141 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1556-14A>G single nucleotide variant not provided [RCV003848407] Chr16:57660754 [GRCh38]
Chr16:57694666 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.352_452del (p.Ser118fs) deletion Bilateral frontoparietal polymicrogyria [RCV003991968] Chr16:57651485..57651585 [GRCh38]
Chr16:57685397..57685497 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.696G>C (p.Arg232=) single nucleotide variant ADGRG1-related disorder [RCV003962217] Chr16:57654061 [GRCh38]
Chr16:57687973 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1663A>G (p.Met555Val) single nucleotide variant Inborn genetic diseases [RCV004377290] Chr16:57660875 [GRCh38]
Chr16:57694787 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.944T>C (p.Ile315Thr) single nucleotide variant Inborn genetic diseases [RCV004377348] Chr16:57655919 [GRCh38]
Chr16:57689831 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1151A>G (p.Tyr384Cys) single nucleotide variant Inborn genetic diseases [RCV004377263] Chr16:57656601 [GRCh38]
Chr16:57690513 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.602C>T (p.Ser201Leu) single nucleotide variant Inborn genetic diseases [RCV004377325] Chr16:57653317 [GRCh38]
Chr16:57687229 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1105G>A (p.Val369Ile) single nucleotide variant Inborn genetic diseases [RCV004613984] Chr16:57656555 [GRCh38]
Chr16:57690467 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1408C>G (p.Arg470Gly) single nucleotide variant not specified [RCV004690635] Chr16:57659534 [GRCh38]
Chr16:57693446 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1867T>C (p.Ser623Pro) single nucleotide variant not provided [RCV004698288] Chr16:57661899 [GRCh38]
Chr16:57695811 [GRCh37]
Chr16:16q21
uncertain significance
NC_000016.9:g.(?_48799549)_(70756330_?)dup duplication Chromosome 16q12 duplication syndrome [RCV004595820] Chr16:48799549..70756330 [GRCh37]
Chr16:16q12.1-22.1
likely pathogenic
NM_201525.4(ADGRG1):c.1967G>A (p.Arg656Gln) single nucleotide variant Inborn genetic diseases [RCV004613964] Chr16:57663485 [GRCh38]
Chr16:57697397 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.67G>A (p.Ala23Thr) single nucleotide variant Inborn genetic diseases [RCV004613974] Chr16:57651202 [GRCh38]
Chr16:57685114 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.1046G>C (p.Trp349Ser) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV004766741] Chr16:57656254 [GRCh38]
Chr16:57690166 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.488-10C>T single nucleotide variant ADGRG1-related disorder [RCV004732146] Chr16:57653193 [GRCh38]
Chr16:57687105 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.781G>T (p.Glu261Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV004764673] Chr16:57655411 [GRCh38]
Chr16:57689323 [GRCh37]
Chr16:16q21
pathogenic
NC_000016.9:g.(?_57697344)_(57697494_?)del deletion not provided [RCV004582871] Chr16:57697344..57697494 [GRCh37]
Chr16:16q21
pathogenic
NM_201525.4(ADGRG1):c.1461G>A (p.Met487Ile) single nucleotide variant Inborn genetic diseases [RCV003358676] Chr16:57659587 [GRCh38]
Chr16:57693499 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.64+5G>T single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV003334458] Chr16:57650356 [GRCh38]
Chr16:57684268 [GRCh37]
Chr16:16q21
uncertain significance
NM_201525.4(ADGRG1):c.429G>A (p.Trp143Ter) single nucleotide variant Bilateral frontoparietal polymicrogyria [RCV003389379] Chr16:57651564 [GRCh38]
Chr16:57685476 [GRCh37]
Chr16:16q21
likely pathogenic
NM_201525.4(ADGRG1):c.621-11C>T single nucleotide variant not provided [RCV003671893] Chr16:57653975 [GRCh38]
Chr16:57687887 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1038T>C (p.Cys346=) single nucleotide variant not provided [RCV003568214] Chr16:57656246 [GRCh38]
Chr16:57690158 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1934-20C>G single nucleotide variant not provided [RCV003719490] Chr16:57663432 [GRCh38]
Chr16:57697344 [GRCh37]
Chr16:16q21
likely benign
NM_201525.4(ADGRG1):c.1017+9G>A single nucleotide variant not provided [RCV003712274] Chr16:57656001 [GRCh38]
Chr16:57689913 [GRCh37]
Chr16:16q21
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:33886
Count of miRNA genes:1201
Interacting mature miRNAs:1560
Transcripts:ENST00000379694, ENST00000379696, ENST00000388812, ENST00000388813, ENST00000456916, ENST00000538815, ENST00000540164, ENST00000544297, ENST00000561696, ENST00000561782, ENST00000561833, ENST00000561872, ENST00000561969, ENST00000561988, ENST00000562003, ENST00000562101, ENST00000562414, ENST00000562467, ENST00000562558, ENST00000562608, ENST00000562631, ENST00000562673, ENST00000562682, ENST00000562804, ENST00000563007, ENST00000563374, ENST00000563414, ENST00000563445, ENST00000563548, ENST00000563862, ENST00000564103, ENST00000564338, ENST00000564360, ENST00000564722, ENST00000564729, ENST00000564783, ENST00000564907, ENST00000564912, ENST00000565013, ENST00000565314, ENST00000565338, ENST00000565391, ENST00000565505, ENST00000565539, ENST00000565587, ENST00000565770, ENST00000565976, ENST00000566123, ENST00000566164, ENST00000566169, ENST00000566187, ENST00000566271, ENST00000566508, ENST00000566778, ENST00000566888, ENST00000567154, ENST00000567397, ENST00000567553, ENST00000567702, ENST00000567835, ENST00000567915, ENST00000568074, ENST00000568157, ENST00000568234, ENST00000568487, ENST00000568531, ENST00000568618, ENST00000568645, ENST00000568700, ENST00000568791, ENST00000568908, ENST00000568909, ENST00000568979, ENST00000569101, ENST00000569132, ENST00000569154, ENST00000569158, ENST00000569372, ENST00000569494, ENST00000569531, ENST00000569992, ENST00000570044
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597097680GWAS1193754_Hprostate carcinoma QTL GWAS1193754 (human)3e-11prostate carcinoma165762066457620665Human
597149521GWAS1245595_Hprostate carcinoma QTL GWAS1245595 (human)5e-13prostate carcinoma165762066457620665Human
597163537GWAS1259611_Hintracerebral hemorrhage QTL GWAS1259611 (human)5e-09intracerebral hemorrhage165764465857644659Human
597433051GWAS1529125_Hprotein measurement QTL GWAS1529125 (human)2e-60protein measurement165764836357648364Human
597293168GWAS1389242_Hblood vanadium measurement QTL GWAS1389242 (human)0.000004blood vanadium measurement165762696657626967Human
597049754GWAS1145828_Hprostate carcinoma QTL GWAS1145828 (human)0.0000007prostate carcinoma165762066457620665Human
597037626GWAS1133700_Hhigh density lipoprotein cholesterol measurement QTL GWAS1133700 (human)5e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)165764878857648789Human
597331350GWAS1427424_Hcolorectal cancer QTL GWAS1427424 (human)0.000002colorectal cancer165765485757654858Human
597050971GWAS1147045_Hprostate carcinoma QTL GWAS1147045 (human)2e-11prostate carcinoma165762066457620665Human
597181800GWAS1277874_Hprotein measurement QTL GWAS1277874 (human)4e-15protein measurement165765547357655474Human
597305035GWAS1401109_Herythrocyte count QTL GWAS1401109 (human)2e-08erythrocyte countred blood cell count (CMO:0000025)165765239157652392Human
597148294GWAS1244368_Hprostate carcinoma QTL GWAS1244368 (human)3e-15prostate carcinoma165765854457658545Human
597148293GWAS1244367_Hprostate carcinoma QTL GWAS1244367 (human)2e-12prostate carcinoma165762066457620665Human

Markers in Region
D16S514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371662,338,076 - 62,338,196UniSTSGRCh37
GRCh371662,338,056 - 62,338,203UniSTSGRCh37
Build 361660,895,557 - 60,895,704RGDNCBI36
Celera1646,841,923 - 46,842,076RGD
Celera1646,841,943 - 46,842,069UniSTS
HuRef1648,207,159 - 48,207,306UniSTS
HuRef1648,207,179 - 48,207,299UniSTS
Marshfield Genetic Map1681.15RGD
Marshfield Genetic Map1681.15UniSTS
Genethon Genetic Map1680.0UniSTS
TNG Radiation Hybrid Map1626463.0UniSTS
Stanford-G3 RH Map162258.0UniSTS
GeneMap99-GB4 RH Map16381.58UniSTS
Whitehead-RH Map16283.9UniSTS
Whitehead-YAC Contig Map16 UniSTS
NCBI RH Map16486.1UniSTS
GeneMap99-G3 RH Map162702.0UniSTS
GPR56_2066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371657,697,369 - 57,698,246UniSTSGRCh37
Build 361656,254,870 - 56,255,747RGDNCBI36
Celera1642,198,588 - 42,199,465RGD
HuRef1643,565,010 - 43,565,887UniSTS
SHGC-61153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371657,698,690 - 57,698,806UniSTSGRCh37
Build 361656,256,191 - 56,256,307RGDNCBI36
Celera1642,199,909 - 42,200,025RGD
Cytogenetic Map16q13UniSTS
HuRef1643,566,331 - 43,566,447UniSTS
GeneMap99-GB4 RH Map16363.18UniSTS
NCBI RH Map16472.9UniSTS
D16S514  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q21UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16q12.1UniSTS
TNG Radiation Hybrid Map1626463.0UniSTS
Stanford-G3 RH Map162258.0UniSTS
GeneMap99-GB4 RH Map16381.58UniSTS
NCBI RH Map16486.1UniSTS
GeneMap99-G3 RH Map162702.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2246 4971 1726 2351 5 624 1909 465 2269 7267 6436 51 3732 1 852 1743 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles