AIP (aryl hydrocarbon receptor interacting protein) - Rat Genome Database

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Gene: AIP (aryl hydrocarbon receptor interacting protein) Homo sapiens
Analyze
Symbol: AIP
Name: aryl hydrocarbon receptor interacting protein
RGD ID: 1354071
HGNC Page HGNC:358
Description: Enables GAF domain binding activity and unfolded protein binding activity. Involved in protein maturation by protein folding and protein targeting to mitochondrion. Located in cytosol and plasma membrane. Implicated in pituitary adenoma 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Ah receptor activated 9; AH receptor-interacting protein; ARA9; aryl hydrocarbon receptor-associated protein 9; aryl hydrocarbon receptor-interacting protein; aryl-hydrocarbon receptor interacting protein; aryl-hydrocarbon receptor-interacting protein; FK506-binding protein 37; FKBP prolyl isomerase 16; FKBP16; FKBP37; HBV X-associated protein 2; HBV-X associated protein; hepatitis B virus X-associated cellular protein 2; immunophilin homolog ARA9; PITA1; SMTPHN; X-associated protein-2; XAP-2; XAP2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381167,483,026 - 67,491,103 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1167,468,174 - 67,491,154 (+)EnsemblGRCh38hg38GRCh38
GRCh371167,250,497 - 67,258,574 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361167,007,097 - 67,015,150 (+)NCBINCBI36Build 36hg18NCBI36
Build 341167,007,096 - 67,015,150NCBI
Celera1164,584,240 - 64,592,315 (+)NCBICelera
Cytogenetic Map11q13.2NCBI
HuRef1163,579,484 - 63,587,558 (+)NCBIHuRef
CHM1_11167,133,548 - 67,141,623 (+)NCBICHM1_1
T2T-CHM13v2.01167,462,305 - 67,485,230 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal obesity  (IAGP)
Abducens palsy  (IAGP)
Abnormal fear-induced behavior  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal hair quantity  (IAGP)
Abnormal pituitary gland morphology  (IAGP)
Abnormal toenail morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the endocrine system  (IAGP)
Abnormality of the menstrual cycle  (IAGP)
Acanthosis nigricans  (IAGP)
Accelerated skeletal maturation  (IAGP)
Acne  (IAGP)
Acral overgrowth  (IAGP)
Adrenocorticotropic hormone deficiency  (IAGP)
Adrenocorticotropin deficient adrenal insufficiency  (IAGP)
Alkalosis  (IAGP)
Amenorrhea  (IAGP)
Anterior hypopituitarism  (IAGP)
Anxiety  (IAGP)
Arthralgia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Biconcave vertebral bodies  (IAGP)
Bitemporal hemianopia  (IAGP)
Blindness  (IAGP)
Broad foot  (IAGP)
Broad forehead  (IAGP)
Broad jaw  (IAGP)
Bruising susceptibility  (IAGP)
Cardiomyopathy  (IAGP)
Central adrenal insufficiency  (IAGP)
Cerebral palsy  (IAGP)
Coarse facial features  (IAGP)
Cortical diaphyseal thickening of the upper limbs  (IAGP)
Cranial nerve paralysis  (IAGP)
Decreased circulating ACTH concentration  (IAGP)
Decreased female libido  (IAGP)
Decreased fertility in females  (IAGP)
Decreased fertility in males  (IAGP)
Deep palmar crease  (IAGP)
Deep plantar creases  (IAGP)
Delayed puberty  (IAGP)
Depression  (IAGP)
Diabetes mellitus  (IAGP)
Diplopia  (IAGP)
Dysmenorrhea  (IAGP)
Dyspareunia  (IAGP)
Dysuria  (IAGP)
Easy fatigability  (IAGP)
Ecchymosis  (IAGP)
Edema  (IAGP)
Elevated circulating growth hormone concentration  (IAGP)
Emotional lability  (IAGP)
Erectile dysfunction  (IAGP)
Facial erythema  (IAGP)
Fatigue  (IAGP)
Female hypogonadism  (IAGP)
Fourth cranial nerve palsy  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Galactorrhea  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hyperpigmentation  (IAGP)
Glucose intolerance  (IAGP)
Gynecomastia  (IAGP)
Headache  (IAGP)
Hemianopia  (IAGP)
Heteronymous hemianopia  (IAGP)
Hirsutism  (IAGP)
Hoarse voice  (IAGP)
Hyperhidrosis  (IAGP)
Hypersomnia  (IAGP)
Hypertension  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypokalemia  (IAGP)
Hypotension  (IAGP)
Impaired glucose tolerance  (IAGP)
Impotence  (IAGP)
Increased circulating ACTH level  (IAGP)
Increased circulating insulin-like growth factor 1 concentration  (IAGP)
Increased circulating prolactin concentration  (IAGP)
Intellectual disability  (IAGP)
Internal ophthalmoplegia  (IAGP)
Irregular menstruation  (IAGP)
Joint swelling  (IAGP)
Kyphosis  (IAGP)
Large hands  (IAGP)
Left ventricular hypertrophy  (IAGP)
Long face  (IAGP)
Long foot  (IAGP)
Long penis  (IAGP)
Macrodactyly  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Male hypogonadism  (IAGP)
Mandibular prognathia  (IAGP)
Migraine  (IAGP)
Mitral regurgitation  (IAGP)
Nausea and vomiting  (IAGP)
Nephrolithiasis  (IAGP)
Obesity  (IAGP)
Oculomotor nerve palsy  (IAGP)
Oligomenorrhea  (IAGP)
Osteoarthritis  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Pallor  (IAGP)
Palpebral edema  (IAGP)
Paresthesia  (IAGP)
Pituitary adenoma  (IAGP)
Pituitary growth hormone cell adenoma  (IAGP)
Pituitary hypothyroidism  (IAGP)
Pituitary prolactin cell adenoma  (IAGP)
Poor wound healing  (IAGP)
Premature pubarche  (IAGP)
Progressive visual loss  (IAGP)
Proportionate tall stature  (IAGP)
Psychotic mentation  (IAGP)
Ptosis  (IAGP)
Purpura  (IAGP)
Secondary growth hormone deficiency  (IAGP)
Seizure  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep apnea  (IAGP)
Spinal canal stenosis  (IAGP)
Striae distensae  (IAGP)
Sudden loss of visual acuity  (IAGP)
Synophrys  (IAGP)
Tall stature  (IAGP)
Tapered finger  (IAGP)
Thick lower lip vermilion  (IAGP)
Thickened skin  (IAGP)
Thin skin  (IAGP)
Type II diabetes mellitus  (IAGP)
Typified by somatic mosaicism  (IAGP)
Vertebral compression fracture  (IAGP)
Vertigo  (IAGP)
Vomiting  (IAGP)
Wide nose  (IAGP)
Wide penis  (IAGP)
Widely spaced teeth  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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:7961671   PMID:8889548   PMID:8972861   PMID:9083006   PMID:9111057   PMID:9447995   PMID:9837941   PMID:10690880   PMID:10986286   PMID:11013261   PMID:11259606   PMID:11805120  
PMID:12036304   PMID:12065584   PMID:12361709   PMID:12477932   PMID:12482853   PMID:12721663   PMID:12810716   PMID:12837759   PMID:14557246   PMID:14730974   PMID:15489334   PMID:15592455  
PMID:16257957   PMID:16582008   PMID:16728643   PMID:16807248   PMID:16936638   PMID:17018653   PMID:17242703   PMID:17244780   PMID:17299063   PMID:17329248   PMID:17341560   PMID:17360484  
PMID:17609395   PMID:17613551   PMID:17893251   PMID:17914118   PMID:17916996   PMID:18029348   PMID:18381572   PMID:18410548   PMID:18484068   PMID:18628514   PMID:18710468   PMID:19188737  
PMID:19366855   PMID:19375531   PMID:19390533   PMID:19474519   PMID:19556287   PMID:19684062   PMID:19794292   PMID:19883897   PMID:19910549   PMID:20029029   PMID:20211142   PMID:20354355  
PMID:20506337   PMID:20507346   PMID:20530095   PMID:20595802   PMID:20634891   PMID:20661446   PMID:20685857   PMID:21078971   PMID:21170051   PMID:21208107   PMID:21340155   PMID:21450940  
PMID:21512261   PMID:21546764   PMID:21753072   PMID:21873635   PMID:21903422   PMID:21984905   PMID:21988832   PMID:22026581   PMID:22113938   PMID:22319033   PMID:22420004   PMID:22720333  
PMID:22811466   PMID:22863883   PMID:22915287   PMID:22939629   PMID:23038625   PMID:23300914   PMID:23321498   PMID:23371967   PMID:23418749   PMID:23418784   PMID:23455922   PMID:23633209  
PMID:23743763   PMID:24025584   PMID:24078436   PMID:24255178   PMID:24662816   PMID:24778252   PMID:24996936   PMID:25036637   PMID:25093619   PMID:25184284   PMID:25245034   PMID:25732638  
PMID:25911105   PMID:25938168   PMID:26021842   PMID:26139345   PMID:26186194   PMID:26187128   PMID:26344197   PMID:26638075   PMID:26792934   PMID:26815903   PMID:26854037   PMID:26872613  
PMID:26972000   PMID:27033541   PMID:27080473   PMID:27253664   PMID:27267386   PMID:27432908   PMID:27650164   PMID:27838609   PMID:27880917   PMID:28255869   PMID:28298427   PMID:28427099  
PMID:28483363   PMID:28514442   PMID:28634279   PMID:28675297   PMID:28689311   PMID:28718761   PMID:29229926   PMID:29395067   PMID:29440248   PMID:29540532   PMID:29726992   PMID:29729370  
PMID:29848728   PMID:30447469   PMID:30461320   PMID:30867568   PMID:31042473   PMID:31091453   PMID:31796584   PMID:31980649   PMID:32062451   PMID:32416067   PMID:32528060   PMID:32648210  
PMID:32707033   PMID:32877691   PMID:33545068   PMID:33853758   PMID:33957083   PMID:33961781   PMID:33975263   PMID:34079125   PMID:34551306   PMID:34588620   PMID:34672954   PMID:34709727  
PMID:34917906   PMID:34932801   PMID:35099607   PMID:35211260   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35446349   PMID:35696571   PMID:35831314   PMID:35914814   PMID:35987950  
PMID:36114006   PMID:36215168   PMID:36244648   PMID:36520303   PMID:36736316   PMID:36757586   PMID:36843582   PMID:37689310   PMID:37711900   PMID:37827155   PMID:38113892   PMID:38496616  


Genomics

Comparative Map Data
AIP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381167,483,026 - 67,491,103 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1167,468,174 - 67,491,154 (+)EnsemblGRCh38hg38GRCh38
GRCh371167,250,497 - 67,258,574 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361167,007,097 - 67,015,150 (+)NCBINCBI36Build 36hg18NCBI36
Build 341167,007,096 - 67,015,150NCBI
Celera1164,584,240 - 64,592,315 (+)NCBICelera
Cytogenetic Map11q13.2NCBI
HuRef1163,579,484 - 63,587,558 (+)NCBIHuRef
CHM1_11167,133,548 - 67,141,623 (+)NCBICHM1_1
T2T-CHM13v2.01167,462,305 - 67,485,230 (+)NCBIT2T-CHM13v2.0
Aip
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39194,163,756 - 4,177,233 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl194,164,446 - 4,175,858 (-)EnsemblGRCm39 Ensembl
GRCm38194,113,756 - 4,126,559 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl194,114,446 - 4,125,858 (-)EnsemblGRCm38mm10GRCm38
MGSCv37194,114,446 - 4,125,827 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36194,114,446 - 4,125,827 (-)NCBIMGSCv36mm8
Celera193,985,348 - 3,992,447 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map193.82NCBI
Aip
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81210,837,473 - 210,848,691 (-)NCBIGRCr8
mRatBN7.21201,408,002 - 201,419,220 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1201,407,288 - 201,419,122 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1209,760,253 - 209,771,414 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01216,853,484 - 216,864,639 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01209,544,497 - 209,555,652 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01219,361,859 - 219,373,924 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1219,361,860 - 219,374,014 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01226,232,510 - 226,244,576 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41206,697,248 - 206,704,457 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11206,850,700 - 206,857,910 (-)NCBI
Celera1198,951,810 - 198,959,237 (-)NCBICelera
Cytogenetic Map1q43NCBI
Aip
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542217,997,683 - 18,004,201 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542217,997,683 - 18,003,888 (-)NCBIChiLan1.0ChiLan1.0
AIP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2968,708,273 - 68,718,181 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11169,752,649 - 69,760,766 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01162,841,377 - 62,849,664 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11166,152,669 - 66,160,898 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1166,152,670 - 66,160,898 (+)Ensemblpanpan1.1panPan2
AIP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11849,986,582 - 49,992,756 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1849,986,587 - 49,992,676 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1848,597,113 - 48,603,280 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01850,909,012 - 50,914,972 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1850,909,022 - 50,914,904 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11850,122,349 - 50,128,309 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01849,696,867 - 49,702,827 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01850,491,120 - 50,497,293 (-)NCBIUU_Cfam_GSD_1.0
Aip
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049475,832,074 - 5,837,873 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365992,274,448 - 2,280,504 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365992,274,451 - 2,280,486 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AIP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl25,041,990 - 5,048,781 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.125,042,883 - 5,048,885 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.223,761,439 - 3,767,460 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AIP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.116,774,648 - 6,783,095 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl16,773,364 - 6,783,318 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038104,058,162 - 104,066,714 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aip
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476719,045,389 - 19,051,747 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476719,045,559 - 19,051,876 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AIP
878 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003977.4(AIP):c.561C>T (p.Asn187=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565129]|not provided [RCV001499010] Chr11:67490130 [GRCh38]
Chr11:67257601 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity
NM_003977.4(AIP):c.649C>G (p.Gln217Glu) single nucleotide variant Somatotroph adenoma [RCV003460142] Chr11:67490319 [GRCh38]
Chr11:67257790 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.2(AIP):c.-1212_279+578del deletion Somatotroph adenoma [RCV000034057] Chr11:67481947..67487763 [GRCh38]
Chr11:67249418..67255234 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_003977.4(AIP):c.-5G>C single nucleotide variant Somatotroph adenoma [RCV000034058] Chr11:67483154 [GRCh38]
Chr11:67250625 [GRCh37]
Chr11:11q13.2		 likely benign|not provided
NM_003977.2(AIP):c.(?_1)_(*_?)del deletion Somatotroph adenoma [RCV000034059]   likely pathogenic
NM_003977.4(AIP):c.100-1025_279+357del deletion Somatotroph adenoma [RCV000034060] Chr11:67485952..67487513 [GRCh38]
Chr11:67253423..67254984 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_003977.4(AIP):c.135C>T (p.Asp45=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566236]|Somatotroph adenoma [RCV000034061]|not provided [RCV001444595] Chr11:67487041 [GRCh38]
Chr11:67254512 [GRCh37]
Chr11:11q13.2		 likely benign|not provided
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del) deletion Somatotroph adenoma [RCV000034062]|not provided [RCV001852688] Chr11:67487044..67487067 [GRCh38]
Chr11:67254515..67254538 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance|not provided
NM_003977.4(AIP):c.145G>A (p.Val49Met) single nucleotide variant AIP-related condition [RCV003894847]|Hereditary cancer-predisposing syndrome [RCV000563699]|Somatotroph adenoma [RCV000034063]|not provided [RCV000897518] Chr11:67487051 [GRCh38]
Chr11:67254522 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.166C>A (p.Arg56Ser) single nucleotide variant Somatotroph adenoma [RCV000034064] Chr11:67487072 [GRCh38]
Chr11:67254543 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012978]|Somatotroph adenoma [RCV000034065]|not provided [RCV001038333] Chr11:67487080 [GRCh38]
Chr11:67254551 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) single nucleotide variant Somatotroph adenoma [RCV000034066]|not provided [RCV001852689] Chr11:67487147 [GRCh38]
Chr11:67254618 [GRCh37]
Chr11:11q13.2		 pathogenic|not provided
NM_003977.4(AIP):c.245_249del (p.Glu82fs) deletion Somatotroph adenoma [RCV000034067] Chr11:67487150..67487154 [GRCh38]
Chr11:67254621..67254625 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.249G>T (p.Gly83=) single nucleotide variant Somatotroph adenoma [RCV000034068]|not provided [RCV001341743] Chr11:67487155 [GRCh38]
Chr11:67254626 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance|not provided
NM_003977.4(AIP):c.250G>A (p.Glu84Lys) single nucleotide variant Somatotroph adenoma [RCV000034069] Chr11:67487156 [GRCh38]
Chr11:67254627 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.280-1G>A single nucleotide variant Somatotroph adenoma [RCV000034070] Chr11:67489266 [GRCh38]
Chr11:67256737 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.286_287del (p.Val96fs) deletion Somatotroph adenoma [RCV000034071] Chr11:67489273..67489274 [GRCh38]
Chr11:67256744..67256745 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.2T>C (p.Met1Thr) single nucleotide variant Somatotroph adenoma [RCV000034072]|not provided [RCV003556103] Chr11:67483160 [GRCh38]
Chr11:67250631 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance|not provided
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018537]|Somatotroph adenoma [RCV000034073]|not provided [RCV001214294] Chr11:67489295 [GRCh38]
Chr11:67256766 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance|not provided
NM_003977.4(AIP):c.350del (p.Gly117fs) deletion Somatotroph adenoma [RCV000034074] Chr11:67489335 [GRCh38]
Chr11:67256806 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.383G>A (p.Arg128His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021265]|Somatotroph adenoma [RCV000034075]|not provided [RCV001052633] Chr11:67489370 [GRCh38]
Chr11:67256841 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance|not provided
NM_003977.4(AIP):c.3_4insC (p.Ala2fs) insertion Somatotroph adenoma [RCV000034076] Chr11:67483161..67483162 [GRCh38]
Chr11:67250632..67250633 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.404del (p.His135fs) deletion Somatotroph adenoma [RCV000034077] Chr11:67489391 [GRCh38]
Chr11:67256862 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.424C>T (p.Gln142Ter) single nucleotide variant Somatotroph adenoma [RCV000034078] Chr11:67489411 [GRCh38]
Chr11:67256882 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.429G>A (p.Gln143=) single nucleotide variant Somatotroph adenoma [RCV000034079] Chr11:67489416 [GRCh38]
Chr11:67256887 [GRCh37]
Chr11:11q13.2		 likely benign|not provided
NM_003977.4(AIP):c.468+16G>T single nucleotide variant Somatotroph adenoma [RCV000034080] Chr11:67489471 [GRCh38]
Chr11:67256942 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.468+1G>A single nucleotide variant Somatotroph adenoma [RCV000034081] Chr11:67489456 [GRCh38]
Chr11:67256927 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.469-2A>G single nucleotide variant Somatotroph adenoma [RCV000034082] Chr11:67490036 [GRCh38]
Chr11:67257507 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.47G>A (p.Arg16His) single nucleotide variant AIP-related condition [RCV003924890]|Familial isolated pituitary adenoma [RCV001554284]|Hereditary cancer-predisposing syndrome [RCV000560928]|Somatotroph adenoma [RCV000034083]|not provided [RCV000893230] Chr11:67483205 [GRCh38]
Chr11:67250676 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023250]|Somatotroph adenoma [RCV000034084] Chr11:67490059 [GRCh38]
Chr11:67257530 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|not provided
NM_003977.4(AIP):c.500del (p.Pro167fs) deletion Somatotroph adenoma [RCV000034085] Chr11:67490067 [GRCh38]
Chr11:67257538 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.521_525del (p.Glu174fs) deletion Somatotroph adenoma [RCV000034086] Chr11:67490086..67490090 [GRCh38]
Chr11:67257557..67257561 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.550C>T (p.Gln184Ter) single nucleotide variant Somatotroph adenoma [RCV000034087]|not provided [RCV003556104] Chr11:67490119 [GRCh38]
Chr11:67257590 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|not provided
NM_003977.4(AIP):c.584T>C (p.Val195Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024601]|Somatotroph adenoma [RCV000034088]|not provided [RCV001326206] Chr11:67490153 [GRCh38]
Chr11:67257624 [GRCh37]
Chr11:11q13.2		 likely pathogenic|likely benign|uncertain significance|not provided
NM_003977.4(AIP):c.591G>A (p.Glu197=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568370]|Somatotroph adenoma [RCV000034089]|not provided [RCV001065292] Chr11:67490160 [GRCh38]
Chr11:67257631 [GRCh37]
Chr11:11q13.2		 likely pathogenic|benign|likely benign|uncertain significance
NM_003977.4(AIP):c.601A>T (p.Lys201Ter) single nucleotide variant Somatotroph adenoma [RCV000034090] Chr11:67490170 [GRCh38]
Chr11:67257641 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.646G>T (p.Glu216Ter) single nucleotide variant Somatotroph adenoma [RCV000034092] Chr11:67490316 [GRCh38]
Chr11:67257787 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.649C>T (p.Gln217Ter) single nucleotide variant Somatotroph adenoma [RCV000034093]|not provided [RCV003556105] Chr11:67490319 [GRCh38]
Chr11:67257790 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|not provided
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer) duplication Somatotroph adenoma [RCV000034094] Chr11:67490328..67490329 [GRCh38]
Chr11:67257799..67257800 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.70G>T (p.Glu24Ter) single nucleotide variant Somatotroph adenoma [RCV000034095]|not provided [RCV001390426] Chr11:67483228 [GRCh38]
Chr11:67250699 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|not provided
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) single nucleotide variant Somatotroph adenoma [RCV000034096]|not provided [RCV001379496] Chr11:67490383 [GRCh38]
Chr11:67257854 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.714C>T (p.Cys238=) single nucleotide variant Somatotroph adenoma [RCV000034097] Chr11:67490384 [GRCh38]
Chr11:67257855 [GRCh37]
Chr11:11q13.2		 likely benign|not provided
NM_003977.4(AIP):c.715C>T (p.Gln239Ter) single nucleotide variant Somatotroph adenoma [RCV000034098] Chr11:67490385 [GRCh38]
Chr11:67257856 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.721A>G (p.Lys241Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371817]|Somatotroph adenoma [RCV000034099]|not provided [RCV001366846] Chr11:67490391 [GRCh38]
Chr11:67257862 [GRCh37]
Chr11:11q13.2		 pathogenic|uncertain significance|not provided
NM_003977.4(AIP):c.721A>T (p.Lys241Ter) single nucleotide variant Somatotroph adenoma [RCV000034100] Chr11:67490391 [GRCh38]
Chr11:67257862 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del) microsatellite Somatotroph adenoma [RCV000034101] Chr11:67490409..67490411 [GRCh38]
Chr11:67257880..67257882 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.3(AIP):c.74_81delTCCCGGACins7 indel Somatotroph adenoma [RCV000034102] Chr11:67483232..67483239 [GRCh38]
Chr11:67250703..67250710 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_003977.4(AIP):c.769A>G (p.Ile257Val) single nucleotide variant Somatotroph adenoma [RCV000034103]|not provided [RCV001237723] Chr11:67490439 [GRCh38]
Chr11:67257910 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance|not provided
NM_003977.4(AIP):c.783C>T (p.Tyr261=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026864]|Somatotroph adenoma [RCV000034104]|not provided [RCV001473813] Chr11:67490453 [GRCh38]
Chr11:67257924 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|not provided
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027096]|Somatotroph adenoma [RCV000034105]|not provided [RCV001341744] Chr11:67490803 [GRCh38]
Chr11:67258274 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance|not provided
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) duplication Hereditary cancer-predisposing syndrome [RCV001027111]|Somatotroph adenoma [RCV000034107]|not provided [RCV001386204] Chr11:67490802..67490803 [GRCh38]
Chr11:67258273..67258274 [GRCh37]
Chr11:11q13.2		 pathogenic|not provided
NM_003977.4(AIP):c.807C>T (p.Phe269=) single nucleotide variant AIP-related condition [RCV003952391]|Hereditary cancer-predisposing syndrome [RCV000571925]|Somatotroph adenoma [RCV000034108]|not provided [RCV000951118] Chr11:67490807 [GRCh38]
Chr11:67258278 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415456]|Somatotroph adenoma [RCV000034109]|not provided [RCV001852690] Chr11:67490811 [GRCh38]
Chr11:67258282 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|not provided
NM_003977.4(AIP):c.829G>C (p.Ala277Pro) single nucleotide variant Somatotroph adenoma [RCV000034111]|not provided [RCV001366847] Chr11:67490829 [GRCh38]
Chr11:67258300 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance|not provided
NM_003977.4(AIP):c.854_857del (p.Gln285fs) deletion Somatotroph adenoma [RCV000034112] Chr11:67490853..67490856 [GRCh38]
Chr11:67258324..67258327 [GRCh37]
Chr11:11q13.2		 likely pathogenic|not provided
NM_003977.4(AIP):c.896C>T (p.Ala299Val) single nucleotide variant AIP-related condition [RCV003904890]|Hereditary cancer-predisposing syndrome [RCV000571818]|Somatotroph adenoma [RCV000034113]|not provided [RCV001357152] Chr11:67490896 [GRCh38]
Chr11:67258367 [GRCh37]
Chr11:11q13.2		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.919dup (p.Arg307fs) duplication Hereditary cancer-predisposing syndrome [RCV003343605]|Somatotroph adenoma [RCV000034114]|not provided [RCV003764656] Chr11:67490918..67490919 [GRCh38]
Chr11:67258389..67258390 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance
NM_003977.4(AIP):c.965C>T (p.Ala322Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371818]|Somatotroph adenoma [RCV000034115]|not provided [RCV001061414] Chr11:67490965 [GRCh38]
Chr11:67258436 [GRCh37]
Chr11:11q13.2		 likely pathogenic|likely benign|uncertain significance|not provided
NM_003977.4(AIP):c.987C>T (p.Ser329=) single nucleotide variant Somatotroph adenoma [RCV000034116] Chr11:67490987 [GRCh38]
Chr11:67258458 [GRCh37]
Chr11:11q13.2		 likely pathogenic|likely benign|not provided
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021869]|Pituitary adenoma predisposition [RCV000005163]|Somatotroph adenoma [RCV000508640]|not provided [RCV003555921] Chr11:67483198 [GRCh38]
Chr11:67250669 [GRCh37]
Chr11:11q13.2		 pathogenic|not provided
NM_003977.4(AIP):c.469-1G>A single nucleotide variant Somatotroph adenoma [RCV000005165] Chr11:67490037 [GRCh38]
Chr11:67257508 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018873]|Somatotroph adenoma [RCV000005166]|not provided [RCV001213277] Chr11:67490910 [GRCh38]
Chr11:67258381 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) deletion Somatotroph adenoma [RCV000005167] Chr11:67483224..67483229 [GRCh38]
Chr11:67250695..67250700 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_003977.4(AIP):c.824dup (p.His275fs) duplication Somatotroph adenoma [RCV000005168] Chr11:67490823..67490824 [GRCh38]
Chr11:67258294..67258295 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_003977.4(AIP):c.543del (p.Ile182fs) deletion Somatotroph adenoma [RCV000005169] Chr11:67490111 [GRCh38]
Chr11:67257582 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) single nucleotide variant Pituitary adenoma predisposition [RCV000005170]|Somatotroph adenoma [RCV000034106]|not provided [RCV003555922] Chr11:67490804 [GRCh38]
Chr11:67258275 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) single nucleotide variant Dopamine agonists response [RCV000735427]|Hereditary cancer-predisposing syndrome [RCV000571906]|Pituitary dependent hypercortisolism [RCV000005171]|Somatotroph adenoma [RCV000508590]|not provided [RCV000766368]|not specified [RCV000439236] Chr11:67490911 [GRCh38]
Chr11:67258382 [GRCh37]
Chr11:11q13.2		 pathogenic|likely benign|conflicting interpretations of pathogenicity|drug response|uncertain significance|not provided
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) single nucleotide variant Somatotroph adenoma [RCV000005172] Chr11:67483222 [GRCh38]
Chr11:67250693 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_003977.4(AIP):c.786C>T (p.Asp262=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561125]|not provided [RCV001034051] Chr11:67490456 [GRCh38]
Chr11:67257927 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.104C>T (p.Thr35Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563836]|not provided [RCV001068537] Chr11:67487010 [GRCh38]
Chr11:67254481 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.93G>A (p.Gly31=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562200] Chr11:67483251 [GRCh38]
Chr11:67250722 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) single nucleotide variant Acroleukopathy, symmetric [RCV000765005]|Hereditary cancer-predisposing syndrome [RCV000561910]|Somatotroph adenoma [RCV001764674]|not provided [RCV001054806] Chr11:67483184 [GRCh38]
Chr11:67250655 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.990T>C (p.His330=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566891]|not provided [RCV001487872] Chr11:67490990 [GRCh38]
Chr11:67258461 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) single nucleotide variant Familial isolated pituitary adenoma [RCV001526825]|Hereditary cancer-predisposing syndrome [RCV000564964]|not provided [RCV001040402] Chr11:67490967 [GRCh38]
Chr11:67258438 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1 copy number loss See cases [RCV000052682] Chr11:66885910..67698250 [GRCh38]
Chr11:66653381..67465721 [GRCh37]
Chr11:66409957..67222297 [NCBI36]
Chr11:11q13.2		 pathogenic
GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1 copy number loss See cases [RCV000052683] Chr11:67446153..68679073 [GRCh38]
Chr11:67213624..68446541 [GRCh37]
Chr11:66970200..68203117 [NCBI36]
Chr11:11q13.2		 pathogenic
GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3 copy number gain See cases [RCV000053623] Chr11:66193502..67890770 [GRCh38]
Chr11:65960973..67658241 [GRCh37]
Chr11:65717549..67414817 [NCBI36]
Chr11:11q13.2		 pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_003977.4(AIP):c.445A>G (p.Ile149Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329337]|not provided [RCV001348867] Chr11:67489432 [GRCh38]
Chr11:67256903 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1 copy number loss See cases [RCV000135609] Chr11:67217264..69448598 [GRCh38]
Chr11:66984735..69263366 [GRCh37]
Chr11:66741311..68972547 [NCBI36]
Chr11:11q13.2-13.3		 likely pathogenic
GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1 copy number loss See cases [RCV000136875] Chr11:67397196..67644438 [GRCh38]
Chr11:67164667..67411909 [GRCh37]
Chr11:66921243..67168485 [NCBI36]
Chr11:11q13.2		 benign
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 copy number loss See cases [RCV000142881] Chr11:65741431..67705669 [GRCh38]
Chr11:65508902..67473140 [GRCh37]
Chr11:65265478..67229716 [NCBI36]
Chr11:11q13.1-13.2		 pathogenic
NM_003977.4(AIP):c.3G>A (p.Met1Ile) single nucleotide variant Familial isolated pituitary adenoma [RCV000240114] Chr11:67483161 [GRCh38]
Chr11:67250632 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_003977.4(AIP):c.469-17T>C single nucleotide variant Familial isolated pituitary adenoma [RCV000240417]|not provided [RCV002057273] Chr11:67490021 [GRCh38]
Chr11:67257492 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.966C>A (p.Ala322=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562531]|not provided [RCV001459263] Chr11:67490966 [GRCh38]
Chr11:67258437 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.609C>T (p.Tyr203=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561687]|Somatotroph adenoma [RCV001104759]|not provided [RCV001485382] Chr11:67490178 [GRCh38]
Chr11:67257649 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) single nucleotide variant Familial isolated pituitary adenoma [RCV001554286]|Hereditary cancer-predisposing syndrome [RCV000565333]|Somatotroph adenoma [RCV003459374]|not provided [RCV000733154] Chr11:67489369 [GRCh38]
Chr11:67256840 [GRCh37]
Chr11:11q13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.426G>A (p.Gln142=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564719]|not provided [RCV001858353] Chr11:67489413 [GRCh38]
Chr11:67256884 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.355C>T (p.Arg119Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567637]|Pituitary dependent hypercortisolism [RCV002476243]|Somatotroph adenoma [RCV003465254]|not provided [RCV001214293] Chr11:67489342 [GRCh38]
Chr11:67256813 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.920= (p.Arg307=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572817]|Somatotroph adenoma [RCV000302136]|not provided [RCV001522773]|not specified [RCV000243723] Chr11:67490920 [GRCh38]
Chr11:67258391 [GRCh37]
Chr11:11q13.2		 benign
NM_003977.4(AIP):c.682C>A (p.Gln228Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562183]|Somatotroph adenoma [RCV000385512]|not provided [RCV001518728]|not specified [RCV000253961] Chr11:67490352 [GRCh38]
Chr11:67257823 [GRCh37]
Chr11:11q13.2		 benign
NM_003977.4(AIP):c.132C>T (p.Asp44=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575200]|Somatotroph adenoma [RCV000264399]|not provided [RCV000956969]|not specified [RCV000249167] Chr11:67487038 [GRCh38]
Chr11:67254509 [GRCh37]
Chr11:11q13.2		 benign
GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3 copy number gain See cases [RCV000240374] Chr11:66024774..67430781 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.-2G>C single nucleotide variant Somatotroph adenoma [RCV000300849] Chr11:67483157 [GRCh38]
Chr11:67250628 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) single nucleotide variant AIP-related condition [RCV003920260]|Hereditary cancer-predisposing syndrome [RCV000568999]|Somatotroph adenoma [RCV000304446]|not provided [RCV000909790] Chr11:67483226 [GRCh38]
Chr11:67250697 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_003977.4(AIP):c.468+3G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338880]|Somatotroph adenoma [RCV000325034]|not provided [RCV001859818] Chr11:67489458 [GRCh38]
Chr11:67256929 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.301G>A (p.Val101Met) single nucleotide variant AIP-related condition [RCV003967877]|Hereditary cancer-predisposing syndrome [RCV000567882]|Somatotroph adenoma [RCV000272200]|not provided [RCV001441310]|not specified [RCV003151020] Chr11:67489288 [GRCh38]
Chr11:67256759 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.*60G>C single nucleotide variant Somatotroph adenoma [RCV000271719]|not provided [RCV001582940] Chr11:67491053 [GRCh38]
Chr11:67258524 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_003977.4(AIP):c.*64G>A single nucleotide variant Somatotroph adenoma [RCV000310748] Chr11:67491057 [GRCh38]
Chr11:67258528 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_003977.4(AIP):c.516C>T (p.Asp172=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567019]|Somatotroph adenoma [RCV000381922]|not provided [RCV001520978] Chr11:67490085 [GRCh38]
Chr11:67257556 [GRCh37]
Chr11:11q13.2		 benign
NM_003977.4(AIP):c.753G>A (p.Leu251=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563180]|Somatotroph adenoma [RCV000293623]|not provided [RCV000900249] Chr11:67490423 [GRCh38]
Chr11:67257894 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_003977.4(AIP):c.-12C>G single nucleotide variant Somatotroph adenoma [RCV000404906] Chr11:67483147 [GRCh38]
Chr11:67250618 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.891C>A (p.Ala297=) single nucleotide variant AIP-related condition [RCV003977888]|Hereditary cancer-predisposing syndrome [RCV000570530]|Somatotroph adenoma [RCV000408403]|not provided [RCV000879764] Chr11:67490891 [GRCh38]
Chr11:67258362 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) single nucleotide variant AIP-related condition [RCV003409472]|Hereditary cancer-predisposing syndrome [RCV000567733]|Somatotroph adenoma [RCV000294654]|not provided [RCV000733441] Chr11:67490086 [GRCh38]
Chr11:67257557 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.906G>A (p.Val302=) single nucleotide variant AIP-related condition [RCV003950030]|Hereditary cancer-predisposing syndrome [RCV000573707]|Somatotroph adenoma [RCV000342019]|not provided [RCV001412215] Chr11:67490906 [GRCh38]
Chr11:67258377 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.-23A>G single nucleotide variant Somatotroph adenoma [RCV000350074] Chr11:67483136 [GRCh38]
Chr11:67250607 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_003977.4(AIP):c.660C>T (p.Ser220=) single nucleotide variant Familial isolated pituitary adenoma [RCV001848086] Chr11:67490330 [GRCh38]
Chr11:67257801 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.36G>A (p.Gly12=) single nucleotide variant AIP-related condition [RCV003957581]|Hereditary cancer-predisposing syndrome [RCV000571152]|Somatotroph adenoma [RCV000353410]|not provided [RCV000919747]|not specified [RCV003151019] Chr11:67483194 [GRCh38]
Chr11:67250665 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_003977.4(AIP):c.-84C>G single nucleotide variant Somatotroph adenoma [RCV000311601] Chr11:67483075 [GRCh38]
Chr11:67250546 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_003977.4(AIP):c.316C>T (p.Arg106Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569018]|Somatotroph adenoma [RCV003465252]|not provided [RCV001236396] Chr11:67489303 [GRCh38]
Chr11:67256774 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.102C>G (p.Ala34=) single nucleotide variant Somatotroph adenoma [RCV000361473] Chr11:67487008 [GRCh38]
Chr11:67254479 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.963A>T (p.Lys321Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567508] Chr11:67490963 [GRCh38]
Chr11:67258434 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019362]|Somatotroph adenoma [RCV000359339]|not provided [RCV001229408] Chr11:67490944 [GRCh38]
Chr11:67258415 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.345G>C (p.Leu115=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458344]|not provided [RCV000732062] Chr11:67489332 [GRCh38]
Chr11:67256803 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.951C>T (p.Asp317=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572050]|not provided [RCV001414628] Chr11:67490951 [GRCh38]
Chr11:67258422 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.339C>G (p.Asp113Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572711]|not provided [RCV001858352] Chr11:67489326 [GRCh38]
Chr11:67256797 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.619G>A (p.Ala207Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572851]|not provided [RCV001326482] Chr11:67490188 [GRCh38]
Chr11:67257659 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.100-18C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259014]|Pituitary adenoma 5, multiple types [RCV003233033]|not provided [RCV000731868] Chr11:67486988 [GRCh38]
Chr11:67254459 [GRCh37]
Chr11:11q13.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.885C>T (p.Asp295=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571549]|not provided [RCV002060505] Chr11:67490885 [GRCh38]
Chr11:67258356 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.25C>T (p.Arg9Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436328]|not provided [RCV000427560] Chr11:67483183 [GRCh38]
Chr11:67250654 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.226A>G (p.Ile76Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014992]|not provided [RCV000433700] Chr11:67487132 [GRCh38]
Chr11:67254603 [GRCh37]
Chr11:11q13.2		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_003977.4(AIP):c.457G>A (p.Glu153Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278187]|not provided [RCV003679188] Chr11:67489444 [GRCh38]
Chr11:67256915 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.628A>C (p.Lys210Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278189] Chr11:67490197 [GRCh38]
Chr11:67257668 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.72G>C (p.Glu24Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000576100]|not provided [RCV000914288] Chr11:67483230 [GRCh38]
Chr11:67250701 [GRCh37]
Chr11:11q13.2		 benign|likely benign|uncertain significance
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402) copy number gain not provided [RCV000767601] Chr11:65138976..67574402 [GRCh37]
Chr11:11q13.1-13.2		 pathogenic
NM_003977.4(AIP):c.828G>A (p.Ala276=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574860]|not provided [RCV001395981] Chr11:67490828 [GRCh38]
Chr11:67258299 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.100-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306737] Chr11:67487003 [GRCh38]
Chr11:67254474 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.525G>A (p.Lys175=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306738] Chr11:67490094 [GRCh38]
Chr11:67257565 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.16G>T (p.Ala6Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306739] Chr11:67483174 [GRCh38]
Chr11:67250645 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.790_792del (p.Asn264del) deletion Hereditary cancer-predisposing syndrome [RCV000574355]|not provided [RCV001049367] Chr11:67490788..67490790 [GRCh38]
Chr11:67258259..67258261 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.572G>A (p.Arg191His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572204]|Somatotroph adenoma [RCV003465253]|not provided [RCV001065648] Chr11:67490141 [GRCh38]
Chr11:67257612 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.827C>T (p.Ala276Val) single nucleotide variant Acroleukopathy, symmetric [RCV000765006]|Hereditary cancer-predisposing syndrome [RCV000573085]|Somatotroph adenoma [RCV003465251]|not provided [RCV001202575] Chr11:67490827 [GRCh38]
Chr11:67258298 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.917T>C (p.Leu306Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278188] Chr11:67490917 [GRCh38]
Chr11:67258388 [GRCh37]
Chr11:11q13.2		 uncertain significance
GRCh37/hg19 11q13.2(chr11:67161003-67349899)x1 copy number loss not provided [RCV000683315] Chr11:67161003..67349899 [GRCh37]
Chr11:11q13.2		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_003977.4(AIP):c.468+111C>T single nucleotide variant not provided [RCV001665871] Chr11:67489566 [GRCh38]
Chr11:67257037 [GRCh37]
Chr11:11q13.2		 benign
NM_003977.4(AIP):c.469-147_469-144dup duplication not provided [RCV001690195] Chr11:67489888..67489889 [GRCh38]
Chr11:67257359..67257360 [GRCh37]
Chr11:11q13.2		 benign
NM_003977.4(AIP):c.278A>G (p.Lys93Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436690]|not provided [RCV001071341] Chr11:67487184 [GRCh38]
Chr11:67254655 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.745G>A (p.Glu249Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393217]|Somatotroph adenoma [RCV003467732]|not provided [RCV001043768] Chr11:67490415 [GRCh38]
Chr11:67257886 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.115C>T (p.Arg39Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374981]|Somatotroph adenoma [RCV003462602]|not provided [RCV001067459] Chr11:67487021 [GRCh38]
Chr11:67254492 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.366C>T (p.Cys122=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020847]|Somatotroph adenoma [RCV001102835]|not provided [RCV001417709] Chr11:67489353 [GRCh38]
Chr11:67256824 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_003977.4(AIP):c.874C>G (p.Leu292Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445231]|not provided [RCV001041150] Chr11:67490874 [GRCh38]
Chr11:67258345 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.539C>T (p.Pro180Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348447]|not provided [RCV001061788] Chr11:67490108 [GRCh38]
Chr11:67257579 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.587A>C (p.Lys196Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355032]|not provided [RCV001049201] Chr11:67490156 [GRCh38]
Chr11:67257627 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327249]|Somatotroph adenoma [RCV003467709]|not provided [RCV001036561] Chr11:67489402 [GRCh38]
Chr11:67256873 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.925C>T (p.Leu309=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019095]|not provided [RCV001426340] Chr11:67490925 [GRCh38]
Chr11:67258396 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.940C>T (p.Arg314Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019284]|not provided [RCV001042018] Chr11:67490940 [GRCh38]
Chr11:67258411 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.964G>A (p.Ala322Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019585]|not provided [RCV001327266] Chr11:67490964 [GRCh38]
Chr11:67258435 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.711C>T (p.Tyr237=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372540]|not provided [RCV000914026] Chr11:67490381 [GRCh38]
Chr11:67257852 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.501A>G (p.Pro167=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023429]|not provided [RCV002067660] Chr11:67490070 [GRCh38]
Chr11:67257541 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.692C>T (p.Thr231Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025814]|Somatotroph adenoma [RCV001294202]|not provided [RCV000937880] Chr11:67490362 [GRCh38]
Chr11:67257833 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.460A>G (p.Met154Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022774]|not provided [RCV001369061] Chr11:67489447 [GRCh38]
Chr11:67256918 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.381G>A (p.Met127Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355065]|not provided [RCV001061025] Chr11:67489368 [GRCh38]
Chr11:67256839 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.41A>C (p.Gln14Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022033]|not provided [RCV001063933] Chr11:67483199 [GRCh38]
Chr11:67250670 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.317G>A (p.Arg106His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019016]|not provided [RCV001236543] Chr11:67489304 [GRCh38]
Chr11:67256775 [GRCh37]
Chr11:11q13.2		 uncertain significance
GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3 copy number gain not provided [RCV000847752] Chr11:67081259..67471729 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.347_373del (p.Glu116_Val124del) deletion not provided [RCV000994672] Chr11:67489333..67489359 [GRCh38]
Chr11:67256804..67256830 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_003977.4(AIP):c.485C>T (p.Thr162Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023160]|Somatotroph adenoma [RCV003461396]|not provided [RCV001320614] Chr11:67490054 [GRCh38]
Chr11:67257525 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.973C>T (p.Arg325Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019695]|not provided [RCV001246152] Chr11:67490973 [GRCh38]
Chr11:67258444 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.328G>A (p.Val110Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019708]|not provided [RCV001873319] Chr11:67489315 [GRCh38]
Chr11:67256786 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.367G>A (p.Gly123Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020865]|not provided [RCV001046964] Chr11:67489354 [GRCh38]
Chr11:67256825 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.327G>A (p.Ala109=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019606]|not provided [RCV001204018] Chr11:67489314 [GRCh38]
Chr11:67256785 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.547C>T (p.His183Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348777]|not provided [RCV001231206] Chr11:67490116 [GRCh38]
Chr11:67257587 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.685C>T (p.Gln229Ter) single nucleotide variant not provided [RCV001210423] Chr11:67490355 [GRCh38]
Chr11:67257826 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.961A>G (p.Lys321Glu) single nucleotide variant not provided [RCV001223904] Chr11:67490961 [GRCh38]
Chr11:67258432 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.88G>T (p.Asp30Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375227]|not provided [RCV001226942] Chr11:67483246 [GRCh38]
Chr11:67250717 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.73C>T (p.Leu25Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255634]|Somatotroph adenoma [RCV003469398]|not provided [RCV001227005] Chr11:67483231 [GRCh38]
Chr11:67250702 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.62G>C (p.Gly21Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366049]|not provided [RCV001237821] Chr11:67483220 [GRCh38]
Chr11:67250691 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.663del (p.Glu222fs) deletion not provided [RCV001238308] Chr11:67490333 [GRCh38]
Chr11:67257804 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.167G>A (p.Arg56His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402751]|not provided [RCV001238617] Chr11:67487073 [GRCh38]
Chr11:67254544 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.832G>A (p.Val278Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436815]|not provided [RCV001211330] Chr11:67490832 [GRCh38]
Chr11:67258303 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.780G>C (p.Lys260Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411886]|not provided [RCV001241088] Chr11:67490450 [GRCh38]
Chr11:67257921 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.474G>T (p.Glu158Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022989]|Somatotroph adenoma [RCV003461395]|not provided [RCV001873362] Chr11:67490043 [GRCh38]
Chr11:67257514 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.249G>A (p.Gly83=) single nucleotide variant Somatotroph adenoma [RCV001102834]|not provided [RCV001397759] Chr11:67487155 [GRCh38]
Chr11:67254626 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.468+136A>G single nucleotide variant not provided [RCV001549561] Chr11:67489591 [GRCh38]
Chr11:67257062 [GRCh37]
Chr11:11q13.2		 likely benign
NC_000011.9:g.(?_64973914)_(70052579_?)dup duplication Aicardi-Goutieres syndrome 3 [RCV003113322]|FADD-related immunodeficiency [RCV003107753] Chr11:64973914..70052579 [GRCh37]
Chr11:11q13.1-13.3		 uncertain significance
NM_003977.4(AIP):c.788-29TGCCCAC[3] microsatellite not provided [RCV001551127] Chr11:67490758..67490759 [GRCh38]
Chr11:67258229..67258230 [GRCh37]
Chr11:11q13.2		 likely benign
NC_000011.9:g.(?_67250360)_(67258464_?)del deletion not provided [RCV003107783] Chr11:67250360..67258464 [GRCh37]
Chr11:11q13.2		 pathogenic
NC_000011.9:g.(?_67250360)_(67250738_?)del deletion not provided [RCV003107784] Chr11:67250360..67250738 [GRCh37]
Chr11:11q13.2		 pathogenic
NC_000011.9:g.(?_67250630)_(67250738_?)dup duplication not provided [RCV003107785] Chr11:67250630..67250738 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.693G>A (p.Thr231=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025824]|not provided [RCV000909381] Chr11:67490363 [GRCh38]
Chr11:67257834 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_003977.4(AIP):c.787+3G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166520]|not provided [RCV001243281] Chr11:67490460 [GRCh38]
Chr11:67257931 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.478C>A (p.Pro160Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339652]|not provided [RCV001236604] Chr11:67490047 [GRCh38]
Chr11:67257518 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.296C>T (p.Pro99Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436805]|not provided [RCV001209152] Chr11:67489283 [GRCh38]
Chr11:67256754 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.97A>G (p.Lys33Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379592]|not provided [RCV001065019] Chr11:67483255 [GRCh38]
Chr11:67250726 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.919C>T (p.Arg307Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018990]|not provided [RCV001071667] Chr11:67490919 [GRCh38]
Chr11:67258390 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.973C>A (p.Arg325=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019692]|not provided [RCV001431977] Chr11:67490973 [GRCh38]
Chr11:67258444 [GRCh37]
Chr11:11q13.2		 likely benign
NC_000011.10:g.67482773dup duplication not provided [RCV001621543] Chr11:67482759..67482760 [GRCh38]
Chr11:67250230..67250231 [GRCh37]
Chr11:11q13.2		 benign
NM_003977.4(AIP):c.886C>T (p.Pro296Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258623]|not provided [RCV003774786] Chr11:67490886 [GRCh38]
Chr11:67258357 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.294C>T (p.Tyr98=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259254]|not provided [RCV003094255] Chr11:67489281 [GRCh38]
Chr11:67256752 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.403C>T (p.His135Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021731]|not provided [RCV001437421] Chr11:67489390 [GRCh38]
Chr11:67256861 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.406G>T (p.Ala136Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021802]|Pituitary dependent hypercortisolism [RCV002505546]|not provided [RCV001349329] Chr11:67489393 [GRCh38]
Chr11:67256864 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.936G>A (p.Arg312=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019222] Chr11:67490936 [GRCh38]
Chr11:67258407 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.447C>T (p.Ile149=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022547]|not provided [RCV002069020] Chr11:67489434 [GRCh38]
Chr11:67256905 [GRCh37]
Chr11:11q13.2		 likely benign
GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3 copy number gain not provided [RCV001006414] Chr11:66820585..67979510 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.379A>G (p.Met127Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021172]|Somatotroph adenoma [RCV001102836]|not provided [RCV001861009] Chr11:67489366 [GRCh38]
Chr11:67256837 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.391A>G (p.Ser131Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021435]|not provided [RCV001300033] Chr11:67489378 [GRCh38]
Chr11:67256849 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.469-236G>T single nucleotide variant not provided [RCV001715147] Chr11:67489802 [GRCh38]
Chr11:67257273 [GRCh37]
Chr11:11q13.2		 benign
NM_003977.4(AIP):c.724C>G (p.Leu242Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026194]|not provided [RCV001316992] Chr11:67490394 [GRCh38]
Chr11:67257865 [GRCh37]
Chr11:11q13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.333del (p.Lys112fs) deletion not provided [RCV001092905] Chr11:67489320 [GRCh38]
Chr11:67256791 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019700]|Somatotroph adenoma [RCV003153889]|not provided [RCV001203294] Chr11:67490974 [GRCh38]
Chr11:67258445 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.979A>T (p.Ile327Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019761]|not provided [RCV001360306] Chr11:67490979 [GRCh38]
Chr11:67258450 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.744C>T (p.Tyr248=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026447]|not provided [RCV001477016] Chr11:67490414 [GRCh38]
Chr11:67257885 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.486G>A (p.Thr162=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023175]|not provided [RCV001454834] Chr11:67490055 [GRCh38]
Chr11:67257526 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_003977.4(AIP):c.105G>A (p.Thr35=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009808]|not provided [RCV001407546] Chr11:67487011 [GRCh38]
Chr11:67254482 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.804C>T (p.Tyr268=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027105]|not provided [RCV003718310] Chr11:67490804 [GRCh38]
Chr11:67258275 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.611A>G (p.Asp204Gly) single nucleotide variant not provided [RCV001067823] Chr11:67490180 [GRCh38]
Chr11:67257651 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.119C>T (p.Thr40Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010271]|not provided [RCV001044254] Chr11:67487025 [GRCh38]
Chr11:67254496 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.825C>T (p.His275=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027329]|not provided [RCV001431175] Chr11:67490825 [GRCh38]
Chr11:67258296 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.205A>G (p.Lys69Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014268]|Somatotroph adenoma [RCV003153884]|not provided [RCV001043193] Chr11:67487111 [GRCh38]
Chr11:67254582 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.53T>C (p.Ile18Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024039] Chr11:67483211 [GRCh38]
Chr11:67250682 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.533C>T (p.Ala178Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023949]|not provided [RCV001047507] Chr11:67490102 [GRCh38]
Chr11:67257573 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.218G>A (p.Trp73Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014681] Chr11:67487124 [GRCh38]
Chr11:67254595 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.229G>A (p.Val77Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015103]|not provided [RCV001323868] Chr11:67487135 [GRCh38]
Chr11:67254606 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.242G>A (p.Arg81Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015506]|not provided [RCV001302267] Chr11:67487148 [GRCh38]
Chr11:67254619 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.263T>G (p.Phe88Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016168]|not provided [RCV003736957] Chr11:67487169 [GRCh38]
Chr11:67254640 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.272A>G (p.Asp91Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016414] Chr11:67487178 [GRCh38]
Chr11:67254649 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.274A>G (p.Ile92Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436630]|not provided [RCV001058513] Chr11:67487180 [GRCh38]
Chr11:67254651 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024451]|Somatotroph adenoma [RCV001104757]|not provided [RCV001061657] Chr11:67490140 [GRCh38]
Chr11:67257611 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.100G>A (p.Ala34Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016982] Chr11:67487006 [GRCh38]
Chr11:67254477 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.100G>T (p.Ala34Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016984]|not provided [RCV001860849] Chr11:67487006 [GRCh38]
Chr11:67254477 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.166C>T (p.Arg56Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402499]|Somatotroph adenoma [RCV001102833]|not provided [RCV001326205] Chr11:67487072 [GRCh38]
Chr11:67254543 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.108C>T (p.Phe36=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017241]|not provided [RCV003106097] Chr11:67487014 [GRCh38]
Chr11:67254485 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.831C>T (p.Ala277=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017543]|not provided [RCV001397281] Chr11:67490831 [GRCh38]
Chr11:67258302 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.645+2T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025282]|not provided [RCV001862318] Chr11:67490216 [GRCh38]
Chr11:67257687 [GRCh37]
Chr11:11q13.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.834G>A (p.Val278=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017593]|not provided [RCV001435897] Chr11:67490834 [GRCh38]
Chr11:67258305 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.834G>T (p.Val278=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017594]|not provided [RCV002068951] Chr11:67490834 [GRCh38]
Chr11:67258305 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.855G>C (p.Gln285His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018003]|not provided [RCV003688896] Chr11:67490855 [GRCh38]
Chr11:67258326 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.153C>T (p.Asp51=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011992]|not provided [RCV002068848] Chr11:67487059 [GRCh38]
Chr11:67254530 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.159C>T (p.Ser53=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012369]|not provided [RCV001418627] Chr11:67487065 [GRCh38]
Chr11:67254536 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity
NM_003977.4(AIP):c.695C>T (p.Pro232Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025840]|not provided [RCV001065924] Chr11:67490365 [GRCh38]
Chr11:67257836 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.696G>A (p.Pro232=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025855]|not provided [RCV001517566] Chr11:67490366 [GRCh38]
Chr11:67257837 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_003977.4(AIP):c.946_948del (p.Lys316del) deletion Hereditary cancer-predisposing syndrome [RCV001019373]|not provided [RCV001059545] Chr11:67490944..67490946 [GRCh38]
Chr11:67258415..67258417 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.468+244G>A single nucleotide variant not provided [RCV001695678] Chr11:67489699 [GRCh38]
Chr11:67257170 [GRCh37]
Chr11:11q13.2		 benign
NM_003977.4(AIP):c.541C>T (p.Leu181Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024074] Chr11:67490110 [GRCh38]
Chr11:67257581 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.12C>G (p.Ile4Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010848]|not provided [RCV001038473] Chr11:67483170 [GRCh38]
Chr11:67250641 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.815G>T (p.Gly272Val) single nucleotide variant not provided [RCV001065745] Chr11:67490815 [GRCh38]
Chr11:67258286 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.562C>T (p.Arg188Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348437]|not provided [RCV001060020] Chr11:67490131 [GRCh38]
Chr11:67257602 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.782A>G (p.Tyr261Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026851]|not provided [RCV001039474] Chr11:67490452 [GRCh38]
Chr11:67257923 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.784G>A (p.Asp262Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411764]|Somatotroph adenoma [RCV003462694]|not provided [RCV001207274] Chr11:67490454 [GRCh38]
Chr11:67257925 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.727G>C (p.Val243Leu) single nucleotide variant not provided [RCV001206537] Chr11:67490397 [GRCh38]
Chr11:67257868 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.417C>G (p.Asp139Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327279]|not provided [RCV001042577] Chr11:67489404 [GRCh38]
Chr11:67256875 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.428A>G (p.Gln143Arg) single nucleotide variant AIP-related condition [RCV003405241]|Hereditary cancer-predisposing syndrome [RCV002327284]|not provided [RCV001044277] Chr11:67489415 [GRCh38]
Chr11:67256886 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.573C>T (p.Arg191=) single nucleotide variant AIP-related condition [RCV003962996]|Hereditary cancer-predisposing syndrome [RCV001024465]|Somatotroph adenoma [RCV001104758]|not provided [RCV001210249] Chr11:67490142 [GRCh38]
Chr11:67257613 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.574G>A (p.Glu192Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024485]|not provided [RCV001206438] Chr11:67490143 [GRCh38]
Chr11:67257614 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.588G>A (p.Lys196=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024644]|not provided [RCV001498172] Chr11:67490157 [GRCh38]
Chr11:67257628 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.139G>A (p.Gly47Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011388]|not provided [RCV001860664] Chr11:67487045 [GRCh38]
Chr11:67254516 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.144C>T (p.Thr48=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011643]|Somatotroph adenoma [RCV001102832]|not provided [RCV001497250] Chr11:67487050 [GRCh38]
Chr11:67254521 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_003977.4(AIP):c.151G>A (p.Asp51Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011963]|Somatotroph adenoma [RCV003461321]|not provided [RCV001247747] Chr11:67487057 [GRCh38]
Chr11:67254528 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.356G>A (p.Arg119Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451181]|not provided [RCV001046267] Chr11:67489343 [GRCh38]
Chr11:67256814 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.920G>A (p.Arg307Gln) single nucleotide variant not provided [RCV001038474] Chr11:67490920 [GRCh38]
Chr11:67258391 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.70G>C (p.Glu24Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026039]|Somatotroph adenoma [RCV003461414]|not provided [RCV001305281] Chr11:67483228 [GRCh38]
Chr11:67250699 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.710A>G (p.Tyr237Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026050] Chr11:67490380 [GRCh38]
Chr11:67257851 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026294]|Somatotroph adenoma [RCV001105892]|not provided [RCV001231533] Chr11:67490403 [GRCh38]
Chr11:67257874 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr) single nucleotide variant Familial isolated pituitary adenoma [RCV001543119]|Hereditary cancer-predisposing syndrome [RCV001019413]|Somatotroph adenoma [RCV002254716]|not provided [RCV001212933] Chr11:67490949 [GRCh38]
Chr11:67258420 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.787G>A (p.Asp263Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026904]|not provided [RCV001222650] Chr11:67490457 [GRCh38]
Chr11:67257928 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.326C>T (p.Ala109Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019538]|not provided [RCV001057031] Chr11:67489313 [GRCh38]
Chr11:67256784 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.812G>A (p.Arg271Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027204]|not provided [RCV001208653] Chr11:67490812 [GRCh38]
Chr11:67258283 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.116G>A (p.Arg39Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010102]|not provided [RCV001234957] Chr11:67487022 [GRCh38]
Chr11:67254493 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.4G>C (p.Ala2Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023399]|not provided [RCV003679029] Chr11:67483162 [GRCh38]
Chr11:67250633 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.822C>A (p.Ala274=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027305]|not provided [RCV001395952] Chr11:67490822 [GRCh38]
Chr11:67258293 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003977.4(AIP):c.827C>G (p.Ala276Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027357]|not provided [RCV001042436] Chr11:67490827 [GRCh38]
Chr11:67258298 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.-3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021621] Chr11:67483156 [GRCh38]
Chr11:67250627 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.120G>A (p.Thr40=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010352]|not provided [RCV001396839] Chr11:67487026 [GRCh38]
Chr11:67254497 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.526G>A (p.Ala176Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023829]|not provided [RCV001862273] Chr11:67490095 [GRCh38]
Chr11:67257566 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.229G>C (p.Val77Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015105]|not provided [RCV001860783] Chr11:67487135 [GRCh38]
Chr11:67254606 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.-85C>T single nucleotide variant Somatotroph adenoma [RCV001107397] Chr11:67483074 [GRCh38]
Chr11:67250545 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.93G>T (p.Gly31=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375003]|not provided [RCV001071169] Chr11:67483251 [GRCh38]
Chr11:67250722 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.534A>G (p.Ala178=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023958]|not provided [RCV001483984] Chr11:67490103 [GRCh38]
Chr11:67257574 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.261G>A (p.Gln87=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016121]|not provided [RCV001419966] Chr11:67487167 [GRCh38]
Chr11:67254638 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.280-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016627]|not provided [RCV001459758] Chr11:67489263 [GRCh38]
Chr11:67256734 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.280-5C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016631]|not provided [RCV001423989] Chr11:67489262 [GRCh38]
Chr11:67256733 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.553G>A (p.Glu185Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348776]|not provided [RCV001230940] Chr11:67490122 [GRCh38]
Chr11:67257593 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.285G>A (p.Val95=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016800]|not provided [RCV001453090] Chr11:67489272 [GRCh38]
Chr11:67256743 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.563G>A (p.Arg188Gln) single nucleotide variant AIP-related condition [RCV003396613]|Hereditary cancer-predisposing syndrome [RCV001024357]|Somatotroph adenoma [RCV003461399]|not provided [RCV001062614] Chr11:67490132 [GRCh38]
Chr11:67257603 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.567G>C (p.Leu189Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024400]|not provided [RCV001371124] Chr11:67490136 [GRCh38]
Chr11:67257607 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.136G>A (p.Glu46Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011180]|Somatotroph adenoma [RCV003461319]|not provided [RCV002549337] Chr11:67487042 [GRCh38]
Chr11:67254513 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.643A>T (p.Lys215Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025263] Chr11:67490212 [GRCh38]
Chr11:67257683 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.865G>A (p.Ala289Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018143]|not provided [RCV001321242] Chr11:67490865 [GRCh38]
Chr11:67258336 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.891C>T (p.Ala297=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018511]|not provided [RCV001401301] Chr11:67490891 [GRCh38]
Chr11:67258362 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.85C>T (p.Gln29Ter) single nucleotide variant not provided [RCV001231929] Chr11:67483243 [GRCh38]
Chr11:67250714 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.903G>T (p.Val301=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018695]|not provided [RCV001506439] Chr11:67490903 [GRCh38]
Chr11:67258374 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.908G>A (p.Ser303Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018824]|Somatotroph adenoma [RCV003461373]|not provided [RCV001040304] Chr11:67490908 [GRCh38]
Chr11:67258379 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.175C>T (p.Pro59Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411587]|not provided [RCV001065160] Chr11:67487081 [GRCh38]
Chr11:67254552 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.160C>T (p.Arg54Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012406]|Somatotroph adenoma [RCV003467601]|not provided [RCV001308762] Chr11:67487066 [GRCh38]
Chr11:67254537 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.161G>A (p.Arg54Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012458]|not provided [RCV001241503] Chr11:67487067 [GRCh38]
Chr11:67254538 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.705C>G (p.Leu235=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025979] Chr11:67490375 [GRCh38]
Chr11:67257846 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.727G>T (p.Val243Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026225]|Somatotroph adenoma [RCV003461415]|not provided [RCV001068289] Chr11:67490397 [GRCh38]
Chr11:67257868 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.419C>T (p.Ala140Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327659]|Somatotroph adenoma [RCV003469526]|not provided [RCV001302837] Chr11:67489406 [GRCh38]
Chr11:67256877 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.433C>G (p.Pro145Ala) single nucleotide variant not provided [RCV001303018] Chr11:67489420 [GRCh38]
Chr11:67256891 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.720C>T (p.Cys240=) single nucleotide variant AIP-Related Familial Isolated Pituitary Adenomas [RCV003483813]|AIP-related condition [RCV003963205]|Hereditary cancer-predisposing syndrome [RCV002375370]|not provided [RCV001304884] Chr11:67490390 [GRCh38]
Chr11:67257861 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance|not provided
NM_003977.4(AIP):c.319A>G (p.Asn107Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447440]|not provided [RCV001352339] Chr11:67489306 [GRCh38]
Chr11:67256777 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_67254459)_(67254666_?)del deletion not provided [RCV001324667] Chr11:67254459..67254666 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.394T>C (p.Ser132Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375344]|not provided [RCV001297757] Chr11:67489381 [GRCh38]
Chr11:67256852 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.261G>C (p.Gln87His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294272]|Somatotroph adenoma [RCV003462889]|not provided [RCV001316895] Chr11:67487167 [GRCh38]
Chr11:67254638 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.478C>T (p.Pro160Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341594]|not provided [RCV001300909] Chr11:67490047 [GRCh38]
Chr11:67257518 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.602A>G (p.Lys201Arg) single nucleotide variant not provided [RCV001319695] Chr11:67490171 [GRCh38]
Chr11:67257642 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.261G>T (p.Gln87His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430093]|not provided [RCV001298296] Chr11:67487167 [GRCh38]
Chr11:67254638 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.532G>A (p.Ala178Thr) single nucleotide variant not provided [RCV001321119] Chr11:67490101 [GRCh38]
Chr11:67257572 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.182A>G (p.Glu61Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411962]|not provided [RCV001302360] Chr11:67487088 [GRCh38]
Chr11:67254559 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.512C>T (p.Thr171Ile) single nucleotide variant not provided [RCV001372404] Chr11:67490081 [GRCh38]
Chr11:67257552 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.192T>C (p.Ile64=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256757]|not provided [RCV001394635] Chr11:67487098 [GRCh38]
Chr11:67254569 [GRCh37]
Chr11:11q13.2		 likely benign
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Familial temporal lobe epilepsy 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3		 uncertain significance
NM_003977.4(AIP):c.23T>G (p.Leu8Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431998]|not provided [RCV001352563] Chr11:67483181 [GRCh38]
Chr11:67250652 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.317G>T (p.Arg106Leu) single nucleotide variant not provided [RCV001316258] Chr11:67489304 [GRCh38]
Chr11:67256775 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.684G>A (p.Gln228=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298743]|not provided [RCV001433428] Chr11:67490354 [GRCh38]
Chr11:67257825 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.277A>G (p.Lys93Glu) single nucleotide variant not provided [RCV001369975] Chr11:67487183 [GRCh38]
Chr11:67254654 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.188T>A (p.Ile63Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411942]|not provided [RCV001296241] Chr11:67487094 [GRCh38]
Chr11:67254565 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.279+6_279+9del microsatellite not provided [RCV001359957] Chr11:67487187..67487190 [GRCh38]
Chr11:67254658..67254661 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.198G>A (p.Lys66=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298687]|not provided [RCV001413730] Chr11:67487104 [GRCh38]
Chr11:67254575 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.581A>G (p.His194Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357219]|not provided [RCV001360072] Chr11:67490150 [GRCh38]
Chr11:67257621 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.850G>A (p.Ala284Thr) single nucleotide variant not provided [RCV001373112] Chr11:67490850 [GRCh38]
Chr11:67258321 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.341C>A (p.Pro114His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456444]|not provided [RCV001322780] Chr11:67489328 [GRCh38]
Chr11:67256799 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.459G>T (p.Glu153Asp) single nucleotide variant not provided [RCV001364031] Chr11:67489446 [GRCh38]
Chr11:67256917 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.321C>G (p.Asn107Lys) single nucleotide variant not provided [RCV001346540] Chr11:67489308 [GRCh38]
Chr11:67256779 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.324C>G (p.Ile108Met) single nucleotide variant not provided [RCV001364141] Chr11:67489311 [GRCh38]
Chr11:67256782 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.941G>A (p.Arg314Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377426]|not provided [RCV001327268] Chr11:67490941 [GRCh38]
Chr11:67258412 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.974G>C (p.Arg325Pro) single nucleotide variant not provided [RCV001342025] Chr11:67490974 [GRCh38]
Chr11:67258445 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.418G>A (p.Ala140Thr) single nucleotide variant not provided [RCV001362855] Chr11:67489405 [GRCh38]
Chr11:67256876 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.776A>G (p.Asn259Ser) single nucleotide variant not provided [RCV001364891] Chr11:67490446 [GRCh38]
Chr11:67257917 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.10A>T (p.Ile4Phe) single nucleotide variant not provided [RCV001320168] Chr11:67483168 [GRCh38]
Chr11:67250639 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.826G>A (p.Ala276Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412080]|not provided [RCV001343894] Chr11:67490826 [GRCh38]
Chr11:67258297 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.662C>T (p.Pro221Leu) single nucleotide variant Familial isolated pituitary adenoma [RCV001775166]|Hereditary cancer-predisposing syndrome [RCV002366197]|not provided [RCV001324130] Chr11:67490332 [GRCh38]
Chr11:67257803 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.247G>A (p.Gly83Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166718]|not provided [RCV001303963] Chr11:67487153 [GRCh38]
Chr11:67254624 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.736G>A (p.Glu246Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384425]|not provided [RCV001323111] Chr11:67490406 [GRCh38]
Chr11:67257877 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.668G>C (p.Trp223Ser) single nucleotide variant not provided [RCV001367540] Chr11:67490338 [GRCh38]
Chr11:67257809 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.279+2T>C single nucleotide variant Somatotroph adenoma [RCV001334196] Chr11:67487187 [GRCh38]
Chr11:67254658 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.169G>A (p.Gly57Ser) single nucleotide variant not provided [RCV001338136] Chr11:67487075 [GRCh38]
Chr11:67254546 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_67250360)_(67258464_?)dup duplication not provided [RCV001338844] Chr11:67250360..67258464 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.967C>G (p.Arg323Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384420]|not provided [RCV001322104] Chr11:67490967 [GRCh38]
Chr11:67258438 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.163G>A (p.Ala55Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402902]|not provided [RCV001323242] Chr11:67487069 [GRCh38]
Chr11:67254540 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.236C>A (p.Thr79Asn) single nucleotide variant not provided [RCV001374163] Chr11:67487142 [GRCh38]
Chr11:67254613 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.595G>C (p.Ala199Pro) single nucleotide variant not provided [RCV001345200] Chr11:67490164 [GRCh38]
Chr11:67257635 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.133G>A (p.Asp45Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384470]|not provided [RCV001344275] Chr11:67487039 [GRCh38]
Chr11:67254510 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.716A>G (p.Gln239Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377520]|not provided [RCV001363741] Chr11:67490386 [GRCh38]
Chr11:67257857 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.164C>T (p.Ala55Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003284193]|Somatotroph adenoma [RCV003469552]|not provided [RCV001322598] Chr11:67487070 [GRCh38]
Chr11:67254541 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.79G>C (p.Asp27His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420844]|Somatotroph adenoma [RCV003469616]|not provided [RCV001373355] Chr11:67483237 [GRCh38]
Chr11:67250708 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.448T>C (p.Phe150Leu) single nucleotide variant not provided [RCV001306198] Chr11:67489435 [GRCh38]
Chr11:67256906 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.645+6G>A single nucleotide variant not provided [RCV001344586] Chr11:67490220 [GRCh38]
Chr11:67257691 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.856G>A (p.Ala286Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412053]|not provided [RCV001337527] Chr11:67490856 [GRCh38]
Chr11:67258327 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.953A>T (p.Glu318Val) single nucleotide variant not provided [RCV001319769] Chr11:67490953 [GRCh38]
Chr11:67258424 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.935G>A (p.Arg312Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375339]|not provided [RCV001294651] Chr11:67490935 [GRCh38]
Chr11:67258406 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.545T>C (p.Ile182Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350518]|not provided [RCV001295893] Chr11:67490114 [GRCh38]
Chr11:67257585 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.659C>T (p.Ser220Phe) single nucleotide variant not provided [RCV001325373] Chr11:67490329 [GRCh38]
Chr11:67257800 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.335A>G (p.Lys112Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322207]|not provided [RCV001305038] Chr11:67489322 [GRCh38]
Chr11:67256793 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.784GAC[1] (p.Asp263del) microsatellite Hereditary cancer-predisposing syndrome [RCV002464041]|not provided [RCV001326457] Chr11:67490452..67490454 [GRCh38]
Chr11:67257923..67257925 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.115C>G (p.Arg39Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375345]|not provided [RCV001297773] Chr11:67487021 [GRCh38]
Chr11:67254492 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.790A>G (p.Asn264Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420812]|not provided [RCV001367240] Chr11:67490790 [GRCh38]
Chr11:67258261 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.404A>G (p.His135Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322222]|not provided [RCV001315198] Chr11:67489391 [GRCh38]
Chr11:67256862 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.952G>A (p.Glu318Lys) single nucleotide variant not provided [RCV001365520] Chr11:67490952 [GRCh38]
Chr11:67258423 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.986C>T (p.Ser329Phe) single nucleotide variant not provided [RCV001326207] Chr11:67490986 [GRCh38]
Chr11:67258457 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.504G>A (p.Trp168Ter) single nucleotide variant not provided [RCV001380180] Chr11:67490073 [GRCh38]
Chr11:67257544 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.100-7C>T single nucleotide variant not provided [RCV001494542] Chr11:67486999 [GRCh38]
Chr11:67254470 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.234C>T (p.Cys78=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449306]|not provided [RCV001495178] Chr11:67487140 [GRCh38]
Chr11:67254611 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.933A>G (p.Ala311=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377845]|not provided [RCV001492498] Chr11:67490933 [GRCh38]
Chr11:67258404 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.567G>A (p.Leu189=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350989]|not provided [RCV001482533] Chr11:67490136 [GRCh38]
Chr11:67257607 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.417C>T (p.Asp139=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329497]|not provided [RCV001442354] Chr11:67489404 [GRCh38]
Chr11:67256875 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.732C>T (p.Val244=) single nucleotide variant AIP-related condition [RCV003965928]|Hereditary cancer-predisposing syndrome [RCV002384747]|not provided [RCV001465984] Chr11:67490402 [GRCh38]
Chr11:67257873 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.768C>T (p.Ser256=) single nucleotide variant AIP-related condition [RCV003930957]|Hereditary cancer-predisposing syndrome [RCV002405075]|not provided [RCV001457045] Chr11:67490438 [GRCh38]
Chr11:67257909 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.468+9C>T single nucleotide variant not provided [RCV001471243] Chr11:67489464 [GRCh38]
Chr11:67256935 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.90T>C (p.Asp30=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377739]|not provided [RCV001446162] Chr11:67483248 [GRCh38]
Chr11:67250719 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.792C>T (p.Asn264=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421007]|Pituitary dependent hypercortisolism [RCV002476763]|not provided [RCV001446348] Chr11:67490792 [GRCh38]
Chr11:67258263 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.787+9C>T single nucleotide variant not provided [RCV001432846] Chr11:67490466 [GRCh38]
Chr11:67257937 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.615C>G (p.Ala205=) single nucleotide variant not provided [RCV001407341] Chr11:67490184 [GRCh38]
Chr11:67257655 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.696G>C (p.Pro232=) single nucleotide variant not provided [RCV001436582] Chr11:67490366 [GRCh38]
Chr11:67257837 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.787+10G>A single nucleotide variant Familial isolated pituitary adenoma [RCV001543113]|not provided [RCV001428027] Chr11:67490467 [GRCh38]
Chr11:67257938 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.84T>C (p.Phe28=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414039]|not provided [RCV001437023] Chr11:67483242 [GRCh38]
Chr11:67250713 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.432C>T (p.Asn144=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329429]|not provided [RCV001403050] Chr11:67489419 [GRCh38]
Chr11:67256890 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.600del (p.Lys201fs) deletion not provided [RCV001390558] Chr11:67490168 [GRCh38]
Chr11:67257639 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.57G>A (p.Gln19=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357321]|not provided [RCV001399915] Chr11:67483215 [GRCh38]
Chr11:67250686 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.489C>T (p.Tyr163=) single nucleotide variant not provided [RCV001447690] Chr11:67490058 [GRCh38]
Chr11:67257529 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.477C>T (p.Ser159=) single nucleotide variant not provided [RCV001417798] Chr11:67490046 [GRCh38]
Chr11:67257517 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.174G>A (p.Lys58=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404913]|not provided [RCV001393801] Chr11:67487080 [GRCh38]
Chr11:67254551 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.228C>T (p.Ile76=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456635]|not provided [RCV001401715] Chr11:67487134 [GRCh38]
Chr11:67254605 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.259C>T (p.Gln87Ter) single nucleotide variant not provided [RCV001390999] Chr11:67487165 [GRCh38]
Chr11:67254636 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.285G>T (p.Val95=) single nucleotide variant not provided [RCV001419655] Chr11:67489272 [GRCh38]
Chr11:67256743 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.393C>T (p.Ser131=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255669]|not provided [RCV001436959] Chr11:67489380 [GRCh38]
Chr11:67256851 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.897G>A (p.Ala299=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377707]|not provided [RCV001436995] Chr11:67490897 [GRCh38]
Chr11:67258368 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.222G>A (p.Glu74=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432392]|not provided [RCV001495632] Chr11:67487128 [GRCh38]
Chr11:67254599 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.63C>T (p.Gly21=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368412]|not provided [RCV001461485] Chr11:67483221 [GRCh38]
Chr11:67250692 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.99+8T>A single nucleotide variant not provided [RCV001451777] Chr11:67483265 [GRCh38]
Chr11:67250736 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.126C>T (p.His42=) single nucleotide variant not provided [RCV001460246] Chr11:67487032 [GRCh38]
Chr11:67254503 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.726G>A (p.Leu242=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384773]|not provided [RCV001478028] Chr11:67490396 [GRCh38]
Chr11:67257867 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.183G>A (p.Glu61=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003346574]|not provided [RCV001471274] Chr11:67487089 [GRCh38]
Chr11:67254560 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.756C>T (p.Asp252=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396095]|not provided [RCV001464172] Chr11:67490426 [GRCh38]
Chr11:67257897 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.634C>T (p.Leu212=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368488]|not provided [RCV001484404] Chr11:67490203 [GRCh38]
Chr11:67257674 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.291G>A (p.Leu97=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439153]|not provided [RCV001482054] Chr11:67489278 [GRCh38]
Chr11:67256749 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.12C>A (p.Ile4=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384827]|not provided [RCV001495999] Chr11:67483170 [GRCh38]
Chr11:67250641 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.672C>T (p.Ile224=) single nucleotide variant not provided [RCV001460598] Chr11:67490342 [GRCh38]
Chr11:67257813 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.318C>T (p.Arg106=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322498]|not provided [RCV001455819] Chr11:67489305 [GRCh38]
Chr11:67256776 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.289C>T (p.Leu97=) single nucleotide variant not provided [RCV001476665] Chr11:67489276 [GRCh38]
Chr11:67256747 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.788-6C>T single nucleotide variant not provided [RCV001455836] Chr11:67490782 [GRCh38]
Chr11:67258253 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.36G>C (p.Gly12=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160706]|not provided [RCV001425492] Chr11:67483194 [GRCh38]
Chr11:67250665 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.100-6C>A single nucleotide variant AIP-related condition [RCV003931134]|Hereditary cancer-predisposing syndrome [RCV002256817]|Pituitary adenoma 5, multiple types [RCV003233035]|not provided [RCV001521638] Chr11:67487000 [GRCh38]
Chr11:67254471 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_003977.4(AIP):c.291G>T (p.Leu97=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298640]|not provided [RCV001393333] Chr11:67489278 [GRCh38]
Chr11:67256749 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.24C>T (p.Leu8=) single nucleotide variant not provided [RCV001392980] Chr11:67483182 [GRCh38]
Chr11:67250653 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.99+10T>C single nucleotide variant not provided [RCV001400404] Chr11:67483267 [GRCh38]
Chr11:67250738 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.630G>A (p.Lys210=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256806]|not provided [RCV001499615] Chr11:67490199 [GRCh38]
Chr11:67257670 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.348G>A (p.Glu116=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456722]|not provided [RCV001435713] Chr11:67489335 [GRCh38]
Chr11:67256806 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.788-5T>C single nucleotide variant not provided [RCV003108638] Chr11:67490783 [GRCh38]
Chr11:67258254 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.325G>A (p.Ala109Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258308]|not provided [RCV001868767] Chr11:67489312 [GRCh38]
Chr11:67256783 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.845A>G (p.Gln282Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163912]|not provided [RCV001776461] Chr11:67490845 [GRCh38]
Chr11:67258316 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.899C>T (p.Pro300Leu) single nucleotide variant not provided [RCV001753318] Chr11:67490899 [GRCh38]
Chr11:67258370 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.464T>G (p.Leu155Arg) single nucleotide variant not provided [RCV002022098] Chr11:67489451 [GRCh38]
Chr11:67256922 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.281A>G (p.His94Arg) single nucleotide variant not provided [RCV001971062] Chr11:67489268 [GRCh38]
Chr11:67256739 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.893T>C (p.Leu298Pro) single nucleotide variant not provided [RCV001911184] Chr11:67490893 [GRCh38]
Chr11:67258364 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.214G>A (p.Val72Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425297]|not provided [RCV001950267] Chr11:67487120 [GRCh38]
Chr11:67254591 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.89A>G (p.Asp30Gly) single nucleotide variant not provided [RCV001988380] Chr11:67483247 [GRCh38]
Chr11:67250718 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_67250360)_(67254666_?)del deletion not provided [RCV001949258] Chr11:67250360..67254666 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.913G>A (p.Glu305Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370638]|not provided [RCV002005270] Chr11:67490913 [GRCh38]
Chr11:67258384 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.758A>G (p.His253Arg) single nucleotide variant Inborn genetic diseases [RCV003303593]|not provided [RCV001986698] Chr11:67490428 [GRCh38]
Chr11:67257899 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.56A>G (p.Gln19Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343929]|not provided [RCV001894859] Chr11:67483214 [GRCh38]
Chr11:67250685 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.567G>T (p.Leu189Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344169]|not provided [RCV002003719] Chr11:67490136 [GRCh38]
Chr11:67257607 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.77C>G (p.Pro26Arg) single nucleotide variant not provided [RCV001947212] Chr11:67483235 [GRCh38]
Chr11:67250706 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.37A>G (p.Ile13Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361353]|not provided [RCV002003430] Chr11:67483195 [GRCh38]
Chr11:67250666 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.178A>G (p.Met60Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407292]|not provided [RCV002040546] Chr11:67487084 [GRCh38]
Chr11:67254555 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.57G>C (p.Gln19His) single nucleotide variant not provided [RCV001945668] Chr11:67483215 [GRCh38]
Chr11:67250686 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.256G>A (p.Ala86Thr) single nucleotide variant not provided [RCV001983819] Chr11:67487162 [GRCh38]
Chr11:67254633 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.538C>T (p.Pro180Ser) single nucleotide variant not provided [RCV001910680] Chr11:67490107 [GRCh38]
Chr11:67257578 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.100-4del deletion Hereditary cancer-predisposing syndrome [RCV002407216]|not provided [RCV001964047] Chr11:67487002 [GRCh38]
Chr11:67254473 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.673C>T (p.Gln225Ter) single nucleotide variant not provided [RCV001946746] Chr11:67490343 [GRCh38]
Chr11:67257814 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.92G>C (p.Gly31Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164190]|not provided [RCV001894697] Chr11:67483250 [GRCh38]
Chr11:67250721 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.633C>A (p.Asn211Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352761]|not provided [RCV002043945] Chr11:67490202 [GRCh38]
Chr11:67257673 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.633C>G (p.Asn211Lys) single nucleotide variant not provided [RCV001947305] Chr11:67490202 [GRCh38]
Chr11:67257673 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.145G>T (p.Val49Leu) single nucleotide variant not provided [RCV002040846] Chr11:67487051 [GRCh38]
Chr11:67254522 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.238A>C (p.Met80Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458947]|not provided [RCV001986308] Chr11:67487144 [GRCh38]
Chr11:67254615 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.934C>T (p.Arg312Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442950]|not provided [RCV001965577] Chr11:67490934 [GRCh38]
Chr11:67258405 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.607T>G (p.Tyr203Asp) single nucleotide variant not provided [RCV001986867] Chr11:67490176 [GRCh38]
Chr11:67257647 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.194G>A (p.Gly65Asp) single nucleotide variant not provided [RCV001965732] Chr11:67487100 [GRCh38]
Chr11:67254571 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.334A>G (p.Lys112Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324355]|not provided [RCV001967358] Chr11:67489321 [GRCh38]
Chr11:67256792 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.685C>G (p.Gln229Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361377]|not provided [RCV002042631] Chr11:67490355 [GRCh38]
Chr11:67257826 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.976_977insC (p.Gly326fs) insertion not provided [RCV001966096] Chr11:67490976..67490977 [GRCh38]
Chr11:67258447..67258448 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.10A>G (p.Ile4Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303652]|not provided [RCV002021258] Chr11:67483168 [GRCh38]
Chr11:67250639 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.439C>T (p.Pro147Ser) single nucleotide variant not provided [RCV001884204] Chr11:67489426 [GRCh38]
Chr11:67256897 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.542T>G (p.Leu181Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344070]|not provided [RCV001938839] Chr11:67490111 [GRCh38]
Chr11:67257582 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.254T>C (p.Ile85Thr) single nucleotide variant not provided [RCV001924342] Chr11:67487160 [GRCh38]
Chr11:67254631 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.152A>T (p.Asp51Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398030]|not provided [RCV001995303] Chr11:67487058 [GRCh38]
Chr11:67254529 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.719G>A (p.Cys240Tyr) single nucleotide variant not provided [RCV001936748] Chr11:67490389 [GRCh38]
Chr11:67257860 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.481G>A (p.Gly161Ser) single nucleotide variant not provided [RCV001887269] Chr11:67490050 [GRCh38]
Chr11:67257521 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.851C>T (p.Ala284Val) single nucleotide variant not provided [RCV001961647] Chr11:67490851 [GRCh38]
Chr11:67258322 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.411C>A (p.Asp137Glu) single nucleotide variant not provided [RCV001944817] Chr11:67489398 [GRCh38]
Chr11:67256869 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.886C>G (p.Pro296Ala) single nucleotide variant not provided [RCV002031084] Chr11:67490886 [GRCh38]
Chr11:67258357 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.814G>A (p.Gly272Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422949]|not provided [RCV001888614] Chr11:67490814 [GRCh38]
Chr11:67258285 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.799G>A (p.Ala267Thr) single nucleotide variant not provided [RCV002020142] Chr11:67490799 [GRCh38]
Chr11:67258270 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.650A>G (p.Gln217Arg) single nucleotide variant not provided [RCV002012114] Chr11:67490320 [GRCh38]
Chr11:67257791 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.832G>T (p.Val278Leu) single nucleotide variant not provided [RCV001880880] Chr11:67490832 [GRCh38]
Chr11:67258303 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.406G>A (p.Ala136Thr) single nucleotide variant not provided [RCV001915739] Chr11:67489393 [GRCh38]
Chr11:67256864 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.477C>A (p.Ser159Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303441]|not provided [RCV001941094] Chr11:67490046 [GRCh38]
Chr11:67257517 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.591G>T (p.Glu197Asp) single nucleotide variant not provided [RCV001870465] Chr11:67490160 [GRCh38]
Chr11:67257631 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.36G>T (p.Gly12=) single nucleotide variant not provided [RCV001903718] Chr11:67483194 [GRCh38]
Chr11:67250665 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.553G>T (p.Glu185Ter) single nucleotide variant not provided [RCV001934047] Chr11:67490122 [GRCh38]
Chr11:67257593 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.433C>T (p.Pro145Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331419]|not provided [RCV001903230] Chr11:67489420 [GRCh38]
Chr11:67256891 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.968G>A (p.Arg323Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370530]|not provided [RCV001916857] Chr11:67490968 [GRCh38]
Chr11:67258439 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.140G>A (p.Gly47Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388874]|Somatotroph adenoma [RCV003464253]|not provided [RCV001931463] Chr11:67487046 [GRCh38]
Chr11:67254517 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.280-5C>A single nucleotide variant not provided [RCV001879111] Chr11:67489262 [GRCh38]
Chr11:67256733 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.857C>T (p.Ala286Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449544]|not provided [RCV001898451] Chr11:67490857 [GRCh38]
Chr11:67258328 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.511A>G (p.Thr171Ala) single nucleotide variant not provided [RCV001956646] Chr11:67490080 [GRCh38]
Chr11:67257551 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.661C>T (p.Pro221Ser) single nucleotide variant not provided [RCV001977590] Chr11:67490331 [GRCh38]
Chr11:67257802 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.29A>G (p.Glu10Gly) single nucleotide variant not provided [RCV001990409] Chr11:67483187 [GRCh38]
Chr11:67250658 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.458A>G (p.Glu153Gly) single nucleotide variant not provided [RCV001922105] Chr11:67489445 [GRCh38]
Chr11:67256916 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.694C>T (p.Pro232Ser) single nucleotide variant not provided [RCV001978333] Chr11:67490364 [GRCh38]
Chr11:67257835 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.885C>G (p.Asp295Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370642]|not provided [RCV001973530] Chr11:67490885 [GRCh38]
Chr11:67258356 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.346G>A (p.Glu116Lys) single nucleotide variant not provided [RCV001991851] Chr11:67489333 [GRCh38]
Chr11:67256804 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_67254459)_(67258464_?)dup duplication not provided [RCV001920336] Chr11:67254459..67258464 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.688A>G (p.Ile230Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361214]|not provided [RCV001937800] Chr11:67490358 [GRCh38]
Chr11:67257829 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.99+4C>T single nucleotide variant not provided [RCV001933730] Chr11:67483261 [GRCh38]
Chr11:67250732 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.646-18C>T single nucleotide variant not provided [RCV001939034] Chr11:67490298 [GRCh38]
Chr11:67257769 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.136G>C (p.Glu46Gln) single nucleotide variant not provided [RCV002026955] Chr11:67487042 [GRCh38]
Chr11:67254513 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.138G>T (p.Glu46Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388943]|not provided [RCV001954445] Chr11:67487044 [GRCh38]
Chr11:67254515 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.820G>A (p.Ala274Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425262]|not provided [RCV001921475] Chr11:67490820 [GRCh38]
Chr11:67258291 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.91G>C (p.Gly31Arg) single nucleotide variant not provided [RCV002010575] Chr11:67483249 [GRCh38]
Chr11:67250720 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.343dup (p.Leu115fs) duplication not provided [RCV001936312] Chr11:67489325..67489326 [GRCh38]
Chr11:67256796..67256797 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.265C>T (p.Leu89Phe) single nucleotide variant not provided [RCV001924064] Chr11:67487171 [GRCh38]
Chr11:67254642 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.788-4G>T single nucleotide variant not provided [RCV001884604] Chr11:67490784 [GRCh38]
Chr11:67258255 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.100-12T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256861]|not provided [RCV001900915] Chr11:67486994 [GRCh38]
Chr11:67254465 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.788-10T>G single nucleotide variant not provided [RCV001993057] Chr11:67490778 [GRCh38]
Chr11:67258249 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.174G>T (p.Lys58Asn) single nucleotide variant not provided [RCV001879696] Chr11:67487080 [GRCh38]
Chr11:67254551 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.497A>T (p.Asp166Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334897]|not provided [RCV001926162] Chr11:67490066 [GRCh38]
Chr11:67257537 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.466_467delinsGC (p.Lys156Ala) indel not provided [RCV001932909] Chr11:67489453..67489454 [GRCh38]
Chr11:67256924..67256925 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.340C>T (p.Pro114Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458840]|not provided [RCV001960180] Chr11:67489327 [GRCh38]
Chr11:67256798 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.99G>A (p.Lys33=) single nucleotide variant not provided [RCV001883721] Chr11:67483257 [GRCh38]
Chr11:67250728 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.38T>A (p.Ile13Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359402]|not provided [RCV001906995] Chr11:67483196 [GRCh38]
Chr11:67250667 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.214G>C (p.Val72Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425130]|not provided [RCV001907226] Chr11:67487120 [GRCh38]
Chr11:67254591 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.170G>A (p.Gly57Asp) single nucleotide variant not provided [RCV001886062] Chr11:67487076 [GRCh38]
Chr11:67254547 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.468G>A (p.Lys156=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331458]|not provided [RCV001916643] Chr11:67489455 [GRCh38]
Chr11:67256926 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.851C>G (p.Ala284Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003348730]|not provided [RCV002012483] Chr11:67490851 [GRCh38]
Chr11:67258322 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_67250630)_(67258464_?)dup duplication not provided [RCV001918703] Chr11:67250630..67258464 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.46C>T (p.Arg16Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334954]|not provided [RCV001992723] Chr11:67483204 [GRCh38]
Chr11:67250675 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.126C>G (p.His42Gln) single nucleotide variant not provided [RCV002012705] Chr11:67487032 [GRCh38]
Chr11:67254503 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.575A>G (p.Glu192Gly) single nucleotide variant not provided [RCV002014527] Chr11:67490144 [GRCh38]
Chr11:67257615 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.772C>T (p.Leu258Phe) single nucleotide variant not provided [RCV001979322] Chr11:67490442 [GRCh38]
Chr11:67257913 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.651G>C (p.Gln217His) single nucleotide variant not provided [RCV001933488] Chr11:67490321 [GRCh38]
Chr11:67257792 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.646-3C>T single nucleotide variant not provided [RCV001934513] Chr11:67490313 [GRCh38]
Chr11:67257784 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.155A>G (p.Asp52Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258355]|not provided [RCV002015680] Chr11:67487061 [GRCh38]
Chr11:67254532 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.275T>C (p.Ile92Thr) single nucleotide variant not provided [RCV002012948] Chr11:67487181 [GRCh38]
Chr11:67254652 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.99+16_99+20del microsatellite not provided [RCV002147185] Chr11:67483266..67483270 [GRCh38]
Chr11:67250737..67250741 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.280-15C>A single nucleotide variant not provided [RCV002191143] Chr11:67489252 [GRCh38]
Chr11:67256723 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.468+13C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255724]|not provided [RCV002105725] Chr11:67489468 [GRCh38]
Chr11:67256939 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.483C>G (p.Gly161=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337318]|not provided [RCV002086563] Chr11:67490052 [GRCh38]
Chr11:67257523 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.105G>T (p.Thr35=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003308055]|not provided [RCV002206197] Chr11:67487011 [GRCh38]
Chr11:67254482 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.573C>G (p.Arg191=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346485]|not provided [RCV002109181] Chr11:67490142 [GRCh38]
Chr11:67257613 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.787+12G>T single nucleotide variant not provided [RCV002107773] Chr11:67490469 [GRCh38]
Chr11:67257940 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.280-7C>T single nucleotide variant not provided [RCV002187365] Chr11:67489260 [GRCh38]
Chr11:67256731 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.468+7G>A single nucleotide variant not provided [RCV002126228] Chr11:67489462 [GRCh38]
Chr11:67256933 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.100-4A>C single nucleotide variant not provided [RCV002090309] Chr11:67487002 [GRCh38]
Chr11:67254473 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.469-13C>T single nucleotide variant not provided [RCV002072383] Chr11:67490025 [GRCh38]
Chr11:67257496 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.213T>G (p.Pro71=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003355811]|not provided [RCV002168674] Chr11:67487119 [GRCh38]
Chr11:67254590 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.468+16G>C single nucleotide variant not provided [RCV002205155] Chr11:67489471 [GRCh38]
Chr11:67256942 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.666A>G (p.Glu222=) single nucleotide variant not provided [RCV002088743] Chr11:67490336 [GRCh38]
Chr11:67257807 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.972C>T (p.Phe324=) single nucleotide variant not provided [RCV002166240] Chr11:67490972 [GRCh38]
Chr11:67258443 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.280-19C>T single nucleotide variant not provided [RCV002111768] Chr11:67489248 [GRCh38]
Chr11:67256719 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.280-18G>A single nucleotide variant not provided [RCV002086321] Chr11:67489249 [GRCh38]
Chr11:67256720 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.468+16G>A single nucleotide variant not provided [RCV002197629] Chr11:67489471 [GRCh38]
Chr11:67256942 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.788-12C>A single nucleotide variant not provided [RCV002197630] Chr11:67490776 [GRCh38]
Chr11:67258247 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.801C>T (p.Ala267=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423321]|not provided [RCV002197631] Chr11:67490801 [GRCh38]
Chr11:67258272 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.705C>T (p.Leu235=) single nucleotide variant not provided [RCV002133950] Chr11:67490375 [GRCh38]
Chr11:67257846 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.39C>T (p.Ile13=) single nucleotide variant not provided [RCV002215526] Chr11:67483197 [GRCh38]
Chr11:67250668 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.144C>G (p.Thr48=) single nucleotide variant not provided [RCV002089298] Chr11:67487050 [GRCh38]
Chr11:67254521 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.969G>A (p.Arg323=) single nucleotide variant not provided [RCV002093222] Chr11:67490969 [GRCh38]
Chr11:67258440 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.645+18_645+19del deletion not provided [RCV002171252] Chr11:67490231..67490232 [GRCh38]
Chr11:67257702..67257703 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.298C>T (p.Leu100=) single nucleotide variant not provided [RCV002106947] Chr11:67489285 [GRCh38]
Chr11:67256756 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.397C>T (p.Leu133=) single nucleotide variant not provided [RCV002116724] Chr11:67489384 [GRCh38]
Chr11:67256855 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.645+20G>T single nucleotide variant not provided [RCV002071636] Chr11:67490234 [GRCh38]
Chr11:67257705 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.787+24_787+33del deletion not provided [RCV002097652] Chr11:67490474..67490483 [GRCh38]
Chr11:67257945..67257954 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.646-20C>G single nucleotide variant not provided [RCV002095331] Chr11:67490296 [GRCh38]
Chr11:67257767 [GRCh37]
Chr11:11q13.2		 benign
NM_003977.4(AIP):c.646-14C>T single nucleotide variant not provided [RCV002088624] Chr11:67490302 [GRCh38]
Chr11:67257773 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.100-13A>T single nucleotide variant not provided [RCV002131348] Chr11:67486993 [GRCh38]
Chr11:67254464 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.984C>T (p.Phe328=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386941]|not provided [RCV002077619] Chr11:67490984 [GRCh38]
Chr11:67258455 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.123G>A (p.Leu41=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161361]|not provided [RCV002170041] Chr11:67487029 [GRCh38]
Chr11:67254500 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.100-16C>T single nucleotide variant not provided [RCV002171860] Chr11:67486990 [GRCh38]
Chr11:67254461 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.788-17A>G single nucleotide variant not provided [RCV002133375] Chr11:67490771 [GRCh38]
Chr11:67258242 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.468+20G>A single nucleotide variant not provided [RCV002079357] Chr11:67489475 [GRCh38]
Chr11:67256946 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.780G>A (p.Lys260=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409516]|not provided [RCV002113398] Chr11:67490450 [GRCh38]
Chr11:67257921 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.30G>A (p.Glu10=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003308043]|not provided [RCV002195998] Chr11:67483188 [GRCh38]
Chr11:67250659 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.78G>A (p.Pro26=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407340]|not provided [RCV002172330] Chr11:67483236 [GRCh38]
Chr11:67250707 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.469-9G>A single nucleotide variant not provided [RCV002091487] Chr11:67490029 [GRCh38]
Chr11:67257500 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.468+8G>A single nucleotide variant not provided [RCV002078332] Chr11:67489463 [GRCh38]
Chr11:67256934 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.468+9C>A single nucleotide variant not provided [RCV002193165] Chr11:67489464 [GRCh38]
Chr11:67256935 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.726G>C (p.Leu242=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382411]|not provided [RCV002116654] Chr11:67490396 [GRCh38]
Chr11:67257867 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.100-17T>G single nucleotide variant not provided [RCV002171965] Chr11:67486989 [GRCh38]
Chr11:67254460 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.6G>A (p.Ala2=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363651]|not provided [RCV002132583] Chr11:67483164 [GRCh38]
Chr11:67250635 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity
NM_003977.4(AIP):c.100-15G>A single nucleotide variant not provided [RCV002103809] Chr11:67486991 [GRCh38]
Chr11:67254462 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.345G>A (p.Leu115=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002460183]|not provided [RCV002200150] Chr11:67489332 [GRCh38]
Chr11:67256803 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.99+13C>T single nucleotide variant not provided [RCV002083977] Chr11:67483270 [GRCh38]
Chr11:67250741 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.849G>A (p.Glu283=) single nucleotide variant not provided [RCV002119323] Chr11:67490849 [GRCh38]
Chr11:67258320 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.639G>A (p.Gln213=) single nucleotide variant not provided [RCV002216504] Chr11:67490208 [GRCh38]
Chr11:67257679 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.540A>G (p.Pro180=) single nucleotide variant not provided [RCV002182746] Chr11:67490109 [GRCh38]
Chr11:67257580 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.468+15C>T single nucleotide variant not provided [RCV002218851] Chr11:67489470 [GRCh38]
Chr11:67256941 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.646-10A>T single nucleotide variant not provided [RCV002154368] Chr11:67490306 [GRCh38]
Chr11:67257777 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.423G>A (p.Leu141=) single nucleotide variant not provided [RCV002137717] Chr11:67489410 [GRCh38]
Chr11:67256881 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.279+8T>G single nucleotide variant not provided [RCV002163630] Chr11:67487193 [GRCh38]
Chr11:67254664 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.441C>A (p.Pro147=) single nucleotide variant not provided [RCV002177887] Chr11:67489428 [GRCh38]
Chr11:67256899 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.100-13A>G single nucleotide variant not provided [RCV002156951] Chr11:67486993 [GRCh38]
Chr11:67254464 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.297G>A (p.Pro99=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434571]|not provided [RCV002144141] Chr11:67489284 [GRCh38]
Chr11:67256755 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.96C>T (p.Thr32=) single nucleotide variant not provided [RCV002218066] Chr11:67483254 [GRCh38]
Chr11:67250725 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.476G>A (p.Ser159Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255978]|Somatotroph adenoma [RCV003464419]|not provided [RCV003094256] Chr11:67490045 [GRCh38]
Chr11:67257516 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.963A>G (p.Lys321=) single nucleotide variant not provided [RCV002184278] Chr11:67490963 [GRCh38]
Chr11:67258434 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.468+14G>A single nucleotide variant not provided [RCV002099915] Chr11:67489469 [GRCh38]
Chr11:67256940 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.646-12C>T single nucleotide variant not provided [RCV002220487] Chr11:67490304 [GRCh38]
Chr11:67257775 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.646-10A>G single nucleotide variant not provided [RCV002135925] Chr11:67490306 [GRCh38]
Chr11:67257777 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.474G>A (p.Glu158=) single nucleotide variant not provided [RCV002136108] Chr11:67490043 [GRCh38]
Chr11:67257514 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.15C>T (p.Ile5=) single nucleotide variant not provided [RCV002123386] Chr11:67483173 [GRCh38]
Chr11:67250644 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.279+18G>A single nucleotide variant not provided [RCV002162234] Chr11:67487203 [GRCh38]
Chr11:67254674 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.336G>A (p.Lys112=) single nucleotide variant not provided [RCV002082576] Chr11:67489323 [GRCh38]
Chr11:67256794 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.645+12A>G single nucleotide variant not provided [RCV002202625] Chr11:67490226 [GRCh38]
Chr11:67257697 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.675G>A (p.Gln225=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363659]|not provided [RCV002124024] Chr11:67490345 [GRCh38]
Chr11:67257816 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.280-17C>T single nucleotide variant not provided [RCV003109675] Chr11:67489250 [GRCh38]
Chr11:67256721 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.100-3C>G single nucleotide variant not provided [RCV003115495] Chr11:67487003 [GRCh38]
Chr11:67254474 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.280-11C>T single nucleotide variant not provided [RCV003117176] Chr11:67489256 [GRCh38]
Chr11:67256727 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.280-10C>T single nucleotide variant not provided [RCV003118509] Chr11:67489257 [GRCh38]
Chr11:67256728 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.787+19G>A single nucleotide variant not provided [RCV003120065] Chr11:67490476 [GRCh38]
Chr11:67257947 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.427C>G (p.Gln143Glu) single nucleotide variant not provided [RCV003129453] Chr11:67489414 [GRCh38]
Chr11:67256885 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.35G>A (p.Gly12Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255977] Chr11:67483193 [GRCh38]
Chr11:67250664 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.283G>T (p.Val95Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435239] Chr11:67489270 [GRCh38]
Chr11:67256741 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.540A>T (p.Pro180=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349398] Chr11:67490109 [GRCh38]
Chr11:67257580 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.283G>A (p.Val95Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435236]|not provided [RCV003102779] Chr11:67489270 [GRCh38]
Chr11:67256741 [GRCh37]
Chr11:11q13.2		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_003977.4(AIP):c.339C>A (p.Asp113Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451982]|not provided [RCV003775611] Chr11:67489326 [GRCh38]
Chr11:67256797 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.621C>A (p.Ala207=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366495] Chr11:67490190 [GRCh38]
Chr11:67257661 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.363C>T (p.Cys121=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452418] Chr11:67489350 [GRCh38]
Chr11:67256821 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.631A>T (p.Asn211Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368853] Chr11:67490200 [GRCh38]
Chr11:67257671 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.80A>C (p.Asp27Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419473]|not provided [RCV003574939] Chr11:67483238 [GRCh38]
Chr11:67250709 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.300G>C (p.Leu100=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435767] Chr11:67489287 [GRCh38]
Chr11:67256758 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.28G>A (p.Glu10Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438055]|not provided [RCV003102854] Chr11:67483186 [GRCh38]
Chr11:67250657 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.676C>G (p.Leu226Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369303]|not provided [RCV003103328] Chr11:67490346 [GRCh38]
Chr11:67257817 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.544A>G (p.Ile182Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349642] Chr11:67490113 [GRCh38]
Chr11:67257584 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.621C>T (p.Ala207=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366513] Chr11:67490190 [GRCh38]
Chr11:67257661 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.740A>T (p.Tyr247Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384914] Chr11:67490410 [GRCh38]
Chr11:67257881 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.204C>T (p.Phe68=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420062] Chr11:67487110 [GRCh38]
Chr11:67254581 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.98A>C (p.Lys33Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387442]|not provided [RCV003774220] Chr11:67483256 [GRCh38]
Chr11:67250727 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.742T>C (p.Tyr248His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385021] Chr11:67490412 [GRCh38]
Chr11:67257883 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.-2G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435637]|not provided [RCV002469479] Chr11:67483157 [GRCh38]
Chr11:67250628 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.978G>A (p.Gly326=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387197] Chr11:67490978 [GRCh38]
Chr11:67258449 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.814G>C (p.Gly272Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421394] Chr11:67490814 [GRCh38]
Chr11:67258285 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.95C>T (p.Thr32Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385286]|not provided [RCV003718575] Chr11:67483253 [GRCh38]
Chr11:67250724 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.359A>C (p.His120Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455160]|not provided [RCV003728090] Chr11:67489346 [GRCh38]
Chr11:67256817 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.809A>C (p.Lys270Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419457] Chr11:67490809 [GRCh38]
Chr11:67258280 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.273C>A (p.Asp91Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437585] Chr11:67487179 [GRCh38]
Chr11:67254650 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.670A>G (p.Ile224Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367192]|not provided [RCV003098340] Chr11:67490340 [GRCh38]
Chr11:67257811 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.26G>T (p.Arg9Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437391] Chr11:67483184 [GRCh38]
Chr11:67250655 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.816C>T (p.Gly272=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421472]|not provided [RCV003730144] Chr11:67490816 [GRCh38]
Chr11:67258287 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.357G>A (p.Arg119=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455078] Chr11:67489344 [GRCh38]
Chr11:67256815 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.202T>C (p.Phe68Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419776] Chr11:67487108 [GRCh38]
Chr11:67254579 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.184C>T (p.Leu62Phe) single nucleotide variant not provided [RCV002297604] Chr11:67487090 [GRCh38]
Chr11:67254561 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.264C>T (p.Phe88=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453047] Chr11:67487170 [GRCh38]
Chr11:67254641 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.62G>A (p.Gly21Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368783] Chr11:67483220 [GRCh38]
Chr11:67250691 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.540A>C (p.Pro180=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349391] Chr11:67490109 [GRCh38]
Chr11:67257580 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.975G>T (p.Arg325=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387120] Chr11:67490975 [GRCh38]
Chr11:67258446 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.537G>T (p.Val179=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347128] Chr11:67490106 [GRCh38]
Chr11:67257577 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.383G>C (p.Arg128Pro) single nucleotide variant not provided [RCV002837716] Chr11:67489370 [GRCh38]
Chr11:67256841 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.191T>C (p.Ile64Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410686] Chr11:67487097 [GRCh38]
Chr11:67254568 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.78G>T (p.Pro26=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416650]|not provided [RCV003120966] Chr11:67483236 [GRCh38]
Chr11:67250707 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.791A>C (p.Asn264Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416706] Chr11:67490791 [GRCh38]
Chr11:67258262 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.435C>T (p.Pro145=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332329] Chr11:67489422 [GRCh38]
Chr11:67256893 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.793G>A (p.Val265Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416825]|not provided [RCV003099797] Chr11:67490793 [GRCh38]
Chr11:67258264 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.531G>A (p.Lys177=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346779] Chr11:67490100 [GRCh38]
Chr11:67257571 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.350G>A (p.Gly117Asp) single nucleotide variant not provided [RCV002297814] Chr11:67489337 [GRCh38]
Chr11:67256808 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.388C>T (p.His130Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357390] Chr11:67489375 [GRCh38]
Chr11:67256846 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.398T>C (p.Leu133Pro) single nucleotide variant not provided [RCV002304014] Chr11:67489385 [GRCh38]
Chr11:67256856 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.397C>A (p.Leu133Met) single nucleotide variant not provided [RCV002295156] Chr11:67489384 [GRCh38]
Chr11:67256855 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.519A>G (p.Glu173=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338551] Chr11:67490088 [GRCh38]
Chr11:67257559 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.657G>T (p.Gly219=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364505] Chr11:67490327 [GRCh38]
Chr11:67257798 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.615C>T (p.Ala205=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353639] Chr11:67490184 [GRCh38]
Chr11:67257655 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.368G>C (p.Gly123Ala) single nucleotide variant not provided [RCV002304256] Chr11:67489355 [GRCh38]
Chr11:67256826 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.249G>C (p.Gly83=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431053] Chr11:67487155 [GRCh38]
Chr11:67254626 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.208C>T (p.Leu70=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424021] Chr11:67487114 [GRCh38]
Chr11:67254585 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.572G>T (p.Arg191Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347722] Chr11:67490141 [GRCh38]
Chr11:67257612 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.280-3C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441613]|not provided [RCV003574969] Chr11:67489264 [GRCh38]
Chr11:67256735 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.795C>G (p.Val265=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416892] Chr11:67490795 [GRCh38]
Chr11:67258266 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.327G>T (p.Ala109=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445753]|not provided [RCV003099361] Chr11:67489314 [GRCh38]
Chr11:67256785 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.617T>C (p.Ile206Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353770] Chr11:67490186 [GRCh38]
Chr11:67257657 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.672C>A (p.Ile224=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375933] Chr11:67490342 [GRCh38]
Chr11:67257813 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.579G>A (p.Gly193=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359822]|not provided [RCV003660939] Chr11:67490148 [GRCh38]
Chr11:67257619 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.268T>C (p.Cys90Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428942]|not provided [RCV003775338] Chr11:67487174 [GRCh38]
Chr11:67254645 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.150G>A (p.Leu50=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392173] Chr11:67487056 [GRCh38]
Chr11:67254527 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.465G>A (p.Leu155=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335106] Chr11:67489452 [GRCh38]
Chr11:67256923 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.24C>G (p.Leu8=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431075]|not provided [RCV003775273] Chr11:67483182 [GRCh38]
Chr11:67250653 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.483C>T (p.Gly161=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338129] Chr11:67490052 [GRCh38]
Chr11:67257523 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.703C>A (p.Leu235Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364949] Chr11:67490373 [GRCh38]
Chr11:67257844 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.171C>A (p.Gly57=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399022] Chr11:67487077 [GRCh38]
Chr11:67254548 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.818A>C (p.Lys273Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427831] Chr11:67490818 [GRCh38]
Chr11:67258289 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.608A>G (p.Tyr203Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360038] Chr11:67490177 [GRCh38]
Chr11:67257648 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.933A>C (p.Ala311=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371653] Chr11:67490933 [GRCh38]
Chr11:67258404 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.87A>G (p.Gln29=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449783] Chr11:67483245 [GRCh38]
Chr11:67250716 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.753G>T (p.Leu251=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393941] Chr11:67490423 [GRCh38]
Chr11:67257894 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.610G>A (p.Asp204Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360222] Chr11:67490179 [GRCh38]
Chr11:67257650 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.134A>T (p.Asp45Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387909]|not provided [RCV003108070] Chr11:67487040 [GRCh38]
Chr11:67254511 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.151G>C (p.Asp51His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392403] Chr11:67487057 [GRCh38]
Chr11:67254528 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.112T>C (p.Tyr38His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320666]|not provided [RCV003718478] Chr11:67487018 [GRCh38]
Chr11:67254489 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.470T>A (p.Val157Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335341] Chr11:67490039 [GRCh38]
Chr11:67257510 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.140G>C (p.Gly47Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389471] Chr11:67487046 [GRCh38]
Chr11:67254517 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.821C>T (p.Ala274Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427983] Chr11:67490821 [GRCh38]
Chr11:67258292 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.241C>A (p.Arg81=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459780]|not provided [RCV003546845] Chr11:67487147 [GRCh38]
Chr11:67254618 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.830C>T (p.Ala277Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430382]|not provided [RCV003099905] Chr11:67490830 [GRCh38]
Chr11:67258301 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.481G>C (p.Gly161Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330759] Chr11:67490050 [GRCh38]
Chr11:67257521 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.759C>G (p.His253Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394191]|not provided [RCV003099694] Chr11:67490429 [GRCh38]
Chr11:67257900 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.719G>C (p.Cys240Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370821]|not provided [RCV003730131] Chr11:67490389 [GRCh38]
Chr11:67257860 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.948G>A (p.Lys316=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374084] Chr11:67490948 [GRCh38]
Chr11:67258419 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.270T>C (p.Cys90=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431190] Chr11:67487176 [GRCh38]
Chr11:67254647 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.64C>A (p.Arg22=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364126]|not provided [RCV003718539] Chr11:67483222 [GRCh38]
Chr11:67250693 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.945G>A (p.Gln315=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443480]|not provided [RCV003660946] Chr11:67490945 [GRCh38]
Chr11:67258416 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.163G>T (p.Ala55Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403537]|not provided [RCV003097043] Chr11:67487069 [GRCh38]
Chr11:67254540 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.502T>G (p.Trp168Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335625]|not provided [RCV003776017] Chr11:67490071 [GRCh38]
Chr11:67257542 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.206A>C (p.Lys69Thr) single nucleotide variant not provided [RCV002301132] Chr11:67487112 [GRCh38]
Chr11:67254583 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.347A>C (p.Glu116Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457352] Chr11:67489334 [GRCh38]
Chr11:67256805 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.934C>A (p.Arg312=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371688] Chr11:67490934 [GRCh38]
Chr11:67258405 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.651G>A (p.Gln217=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364227] Chr11:67490321 [GRCh38]
Chr11:67257792 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.747G>A (p.Glu249=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391506]|not provided [RCV003776397] Chr11:67490417 [GRCh38]
Chr11:67257888 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.454A>T (p.Met152Leu) single nucleotide variant not provided [RCV002300452] Chr11:67489441 [GRCh38]
Chr11:67256912 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.154G>A (p.Asp52Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403348]|not provided [RCV003100717] Chr11:67487060 [GRCh38]
Chr11:67254531 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.9T>C (p.Asp3=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383167] Chr11:67483167 [GRCh38]
Chr11:67250638 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.929A>G (p.Glu310Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371497] Chr11:67490929 [GRCh38]
Chr11:67258400 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.641T>G (p.Met214Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361677] Chr11:67490210 [GRCh38]
Chr11:67257681 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.360C>T (p.His120=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455316] Chr11:67489347 [GRCh38]
Chr11:67256818 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.389A>C (p.His130Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357441] Chr11:67489376 [GRCh38]
Chr11:67256847 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.320A>T (p.Asn107Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443385] Chr11:67489307 [GRCh38]
Chr11:67256778 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.732C>G (p.Val244=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380142]|not provided [RCV003103389] Chr11:67490402 [GRCh38]
Chr11:67257873 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.5C>G (p.Ala2Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357972] Chr11:67483163 [GRCh38]
Chr11:67250634 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.601A>C (p.Lys201Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358092] Chr11:67490170 [GRCh38]
Chr11:67257641 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.48T>C (p.Arg16=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340642] Chr11:67483206 [GRCh38]
Chr11:67250677 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.298C>G (p.Leu100Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434628]|not provided [RCV002301829] Chr11:67489285 [GRCh38]
Chr11:67256756 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.644A>C (p.Lys215Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361825] Chr11:67490213 [GRCh38]
Chr11:67257684 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.129T>C (p.Ser43=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380770] Chr11:67487035 [GRCh38]
Chr11:67254506 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.357G>T (p.Arg119=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002460277] Chr11:67489344 [GRCh38]
Chr11:67256815 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.332G>A (p.Gly111Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326475] Chr11:67489319 [GRCh38]
Chr11:67256790 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.723G>A (p.Lys241=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371054]|not provided [RCV003098516] Chr11:67490393 [GRCh38]
Chr11:67257864 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.305_331del (p.Ala102_Val110del) deletion Hereditary cancer-predisposing syndrome [RCV002444110] Chr11:67489287..67489313 [GRCh38]
Chr11:67256758..67256784 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.303G>A (p.Val101=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443990] Chr11:67489290 [GRCh38]
Chr11:67256761 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.895G>A (p.Ala299Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449898] Chr11:67490895 [GRCh38]
Chr11:67258366 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.17C>A (p.Ala6Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407870] Chr11:67483175 [GRCh38]
Chr11:67250646 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.17C>T (p.Ala6Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407879]|not provided [RCV003574949] Chr11:67483175 [GRCh38]
Chr11:67250646 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.922G>A (p.Ala308Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371320] Chr11:67490922 [GRCh38]
Chr11:67258393 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.606C>G (p.Tyr202Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358357] Chr11:67490175 [GRCh38]
Chr11:67257646 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.750G>C (p.Val250=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393767]|not provided [RCV003669288] Chr11:67490420 [GRCh38]
Chr11:67257891 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.148C>T (p.Leu50=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389663] Chr11:67487054 [GRCh38]
Chr11:67254525 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.889G>A (p.Ala297Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376033]|not provided [RCV003774136] Chr11:67490889 [GRCh38]
Chr11:67258360 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.75C>A (p.Leu25=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394223]|not provided [RCV003776413] Chr11:67483233 [GRCh38]
Chr11:67250704 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.649C>A (p.Gln217Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362019]|not provided [RCV003098267] Chr11:67490319 [GRCh38]
Chr11:67257790 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.501A>C (p.Pro167=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343134]|not provided [RCV003688975] Chr11:67490070 [GRCh38]
Chr11:67257541 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.81C>T (p.Asp27=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427911]|not provided [RCV003120972] Chr11:67483239 [GRCh38]
Chr11:67250710 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.539C>A (p.Pro180Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347229] Chr11:67490108 [GRCh38]
Chr11:67257579 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.231G>T (p.Val77=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457559] Chr11:67487137 [GRCh38]
Chr11:67254608 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.783C>G (p.Tyr261Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412154] Chr11:67490453 [GRCh38]
Chr11:67257924 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.85C>G (p.Gln29Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447980] Chr11:67483243 [GRCh38]
Chr11:67250714 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.933A>T (p.Ala311=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371654] Chr11:67490933 [GRCh38]
Chr11:67258404 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.520G>C (p.Glu174Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344265] Chr11:67490089 [GRCh38]
Chr11:67257560 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.901G>A (p.Val301Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376430]|not provided [RCV003100081] Chr11:67490901 [GRCh38]
Chr11:67258372 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.437A>C (p.Gln146Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333550] Chr11:67489424 [GRCh38]
Chr11:67256895 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.2:c.785_787delACG deletion Hereditary cancer-predisposing syndrome [RCV002412209]   uncertain significance
NM_003977.4(AIP):c.232T>C (p.Cys78Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457626] Chr11:67487138 [GRCh38]
Chr11:67254609 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.402C>T (p.Gly134=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359541] Chr11:67489389 [GRCh38]
Chr11:67256860 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.186C>T (p.Leu62=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415073]|not provided [RCV003097315] Chr11:67487092 [GRCh38]
Chr11:67254563 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.971T>G (p.Phe324Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376717] Chr11:67490971 [GRCh38]
Chr11:67258442 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.486G>C (p.Thr162=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340415] Chr11:67490055 [GRCh38]
Chr11:67257526 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.528A>T (p.Ala176=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344495] Chr11:67490097 [GRCh38]
Chr11:67257568 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.745G>C (p.Glu249Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391421] Chr11:67490415 [GRCh38]
Chr11:67257886 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.968G>T (p.Arg323Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376580] Chr11:67490968 [GRCh38]
Chr11:67258439 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.570C>T (p.Tyr190=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347611] Chr11:67490139 [GRCh38]
Chr11:67257610 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.440C>T (p.Pro147Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333806] Chr11:67489427 [GRCh38]
Chr11:67256898 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.434C>A (p.Pro145His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332251]|not provided [RCV003775876] Chr11:67489421 [GRCh38]
Chr11:67256892 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.434C>T (p.Pro145Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332261] Chr11:67489421 [GRCh38]
Chr11:67256892 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.537G>C (p.Val179=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347120] Chr11:67490106 [GRCh38]
Chr11:67257577 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.219G>A (p.Trp73Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425666] Chr11:67487125 [GRCh38]
Chr11:67254596 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.594T>G (p.Ala198=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355987] Chr11:67490163 [GRCh38]
Chr11:67257634 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.435C>G (p.Pro145=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332327] Chr11:67489422 [GRCh38]
Chr11:67256893 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.558C>G (p.Gly186=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344797] Chr11:67490127 [GRCh38]
Chr11:67257598 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.880C>A (p.Leu294Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373726]|not provided [RCV003679105] Chr11:67490880 [GRCh38]
Chr11:67258351 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.707A>G (p.Asn236Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002365123]|not provided [RCV003669285] Chr11:67490377 [GRCh38]
Chr11:67257848 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.496G>A (p.Asp166Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342836] Chr11:67490065 [GRCh38]
Chr11:67257536 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.866C>T (p.Ala289Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449666] Chr11:67490866 [GRCh38]
Chr11:67258337 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.852C>T (p.Ala284=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414430] Chr11:67490852 [GRCh38]
Chr11:67258323 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.353A>C (p.Gln118Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459466] Chr11:67489340 [GRCh38]
Chr11:67256811 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.614C>G (p.Ala205Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360419] Chr11:67490183 [GRCh38]
Chr11:67257654 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.949G>C (p.Asp317His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374112] Chr11:67490949 [GRCh38]
Chr11:67258420 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.950A>G (p.Asp317Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374163]|Somatotroph adenoma [RCV003138236] Chr11:67490950 [GRCh38]
Chr11:67258421 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.682_684delinsAAA (p.Gln228Lys) indel Hereditary cancer-predisposing syndrome [RCV002369599] Chr11:67490352..67490354 [GRCh38]
Chr11:67257823..67257825 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.682C>G (p.Gln228Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369640] Chr11:67490352 [GRCh38]
Chr11:67257823 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.167G>C (p.Arg56Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406010]|not provided [RCV003100788] Chr11:67487073 [GRCh38]
Chr11:67254544 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.774C>A (p.Leu258=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409658] Chr11:67490444 [GRCh38]
Chr11:67257915 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.469G>A (p.Val157Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335286] Chr11:67490038 [GRCh38]
Chr11:67257509 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.698T>C (p.Leu233Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378195] Chr11:67490368 [GRCh38]
Chr11:67257839 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.482G>C (p.Gly161Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338070] Chr11:67490051 [GRCh38]
Chr11:67257522 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.115C>A (p.Arg39=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357551] Chr11:67487021 [GRCh38]
Chr11:67254492 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.903G>A (p.Val301=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378469] Chr11:67490903 [GRCh38]
Chr11:67258374 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.939C>G (p.Ile313Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443397] Chr11:67490939 [GRCh38]
Chr11:67258410 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.95C>A (p.Thr32Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374349]|not provided [RCV003565546] Chr11:67483253 [GRCh38]
Chr11:67250724 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.412C>T (p.Leu138=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333054] Chr11:67489399 [GRCh38]
Chr11:67256870 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.236C>T (p.Thr79Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450164]|not provided [RCV003730217] Chr11:67487142 [GRCh38]
Chr11:67254613 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.45A>G (p.Lys15=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342347] Chr11:67483203 [GRCh38]
Chr11:67250674 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.582T>C (p.His194=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353235] Chr11:67490151 [GRCh38]
Chr11:67257622 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.235A>G (p.Thr79Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443305]|not provided [RCV002305041] Chr11:67487141 [GRCh38]
Chr11:67254612 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.941G>C (p.Arg314Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443402] Chr11:67490941 [GRCh38]
Chr11:67258412 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.415G>C (p.Asp139His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333315] Chr11:67489402 [GRCh38]
Chr11:67256873 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.368G>A (p.Gly123Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346726] Chr11:67489355 [GRCh38]
Chr11:67256826 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.590A>G (p.Glu197Gly) single nucleotide variant not provided [RCV002295195] Chr11:67490159 [GRCh38]
Chr11:67257630 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.587A>G (p.Lys196Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353508] Chr11:67490156 [GRCh38]
Chr11:67257627 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.279+5C>G single nucleotide variant not provided [RCV003033378] Chr11:67487190 [GRCh38]
Chr11:67254661 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.620C>T (p.Ala207Val) single nucleotide variant not provided [RCV003095602] Chr11:67490189 [GRCh38]
Chr11:67257660 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.463C>T (p.Leu155=) single nucleotide variant not provided [RCV002618123] Chr11:67489450 [GRCh38]
Chr11:67256921 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.823C>T (p.His275Tyr) single nucleotide variant not provided [RCV002751498] Chr11:67490823 [GRCh38]
Chr11:67258294 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.645+8del deletion not provided [RCV002862020] Chr11:67490221 [GRCh38]
Chr11:67257692 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.279+12G>A single nucleotide variant not provided [RCV002730899] Chr11:67487197 [GRCh38]
Chr11:67254668 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.672C>G (p.Ile224Met) single nucleotide variant not provided [RCV003034760] Chr11:67490342 [GRCh38]
Chr11:67257813 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.66A>C (p.Arg22=) single nucleotide variant not provided [RCV003011811] Chr11:67483224 [GRCh38]
Chr11:67250695 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.279+19T>C single nucleotide variant not provided [RCV003017492] Chr11:67487204 [GRCh38]
Chr11:67254675 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.321C>T (p.Asn107=) single nucleotide variant not provided [RCV002614790] Chr11:67489308 [GRCh38]
Chr11:67256779 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.35G>C (p.Gly12Ala) single nucleotide variant not provided [RCV003022066] Chr11:67483193 [GRCh38]
Chr11:67250664 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.607T>C (p.Tyr203His) single nucleotide variant not provided [RCV002593347] Chr11:67490176 [GRCh38]
Chr11:67257647 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.189C>A (p.Ile63=) single nucleotide variant not provided [RCV003037746] Chr11:67487095 [GRCh38]
Chr11:67254566 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.357G>C (p.Arg119=) single nucleotide variant not provided [RCV003020672] Chr11:67489344 [GRCh38]
Chr11:67256815 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.109C>T (p.His37Tyr) single nucleotide variant not provided [RCV003035872] Chr11:67487015 [GRCh38]
Chr11:67254486 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.641_643del (p.Met214del) deletion not provided [RCV002797371] Chr11:67490208..67490210 [GRCh38]
Chr11:67257679..67257681 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.280-6C>A single nucleotide variant not provided [RCV002923296] Chr11:67489261 [GRCh38]
Chr11:67256732 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.858T>C (p.Ala286=) single nucleotide variant not provided [RCV002867313] Chr11:67490858 [GRCh38]
Chr11:67258329 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.513A>G (p.Thr171=) single nucleotide variant not provided [RCV002736450] Chr11:67490082 [GRCh38]
Chr11:67257553 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.645+4C>G single nucleotide variant not provided [RCV002706199] Chr11:67490218 [GRCh38]
Chr11:67257689 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.65G>A (p.Arg22Gln) single nucleotide variant not provided [RCV003036486] Chr11:67483223 [GRCh38]
Chr11:67250694 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.885C>A (p.Asp295Glu) single nucleotide variant not provided [RCV003018496] Chr11:67490885 [GRCh38]
Chr11:67258356 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.456G>A (p.Met152Ile) single nucleotide variant not provided [RCV002952764] Chr11:67489443 [GRCh38]
Chr11:67256914 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.324C>T (p.Ile108=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003382937]|not provided [RCV002780416] Chr11:67489311 [GRCh38]
Chr11:67256782 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.788-11C>G single nucleotide variant not provided [RCV002695612] Chr11:67490777 [GRCh38]
Chr11:67258248 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.225C>G (p.Thr75=) single nucleotide variant not provided [RCV003024947] Chr11:67487131 [GRCh38]
Chr11:67254602 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.99+13C>G single nucleotide variant not provided [RCV003059484] Chr11:67483270 [GRCh38]
Chr11:67250741 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.152A>G (p.Asp51Gly) single nucleotide variant not provided [RCV002850986] Chr11:67487058 [GRCh38]
Chr11:67254529 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.738G>T (p.Glu246Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003289564]|not provided [RCV002642266] Chr11:67490408 [GRCh38]
Chr11:67257879 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.980TCT[1] (p.Phe328del) microsatellite not provided [RCV002852308] Chr11:67490980..67490982 [GRCh38]
Chr11:67258451..67258453 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.88G>A (p.Asp30Asn) single nucleotide variant not provided [RCV002801844] Chr11:67483246 [GRCh38]
Chr11:67250717 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.645+23dup duplication not provided [RCV003059571] Chr11:67490232..67490233 [GRCh38]
Chr11:67257703..67257704 [GRCh37]
Chr11:11q13.2		 benign
NM_003977.4(AIP):c.550C>A (p.Gln184Lys) single nucleotide variant not provided [RCV002575760] Chr11:67490119 [GRCh38]
Chr11:67257590 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.192T>G (p.Ile64Met) single nucleotide variant not provided [RCV003023647] Chr11:67487098 [GRCh38]
Chr11:67254569 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.99+8_99+9insGTACC insertion not provided [RCV003058012] Chr11:67483265..67483266 [GRCh38]
Chr11:67250736..67250737 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.606C>T (p.Tyr202=) single nucleotide variant not provided [RCV003022894] Chr11:67490175 [GRCh38]
Chr11:67257646 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.726_727delinsAA (p.Val243Met) indel not provided [RCV003066026] Chr11:67490396..67490397 [GRCh38]
Chr11:67257867..67257868 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.437A>G (p.Gln146Arg) single nucleotide variant not provided [RCV002941874] Chr11:67489424 [GRCh38]
Chr11:67256895 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.646-4C>T single nucleotide variant not provided [RCV002645872] Chr11:67490312 [GRCh38]
Chr11:67257783 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.127A>G (p.Ser43Gly) single nucleotide variant not provided [RCV003009578] Chr11:67487033 [GRCh38]
Chr11:67254504 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.135C>G (p.Asp45Glu) single nucleotide variant not provided [RCV003028710] Chr11:67487041 [GRCh38]
Chr11:67254512 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.788-14G>A single nucleotide variant not provided [RCV002857547] Chr11:67490774 [GRCh38]
Chr11:67258245 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.966C>T (p.Ala322=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003167624]|not provided [RCV002671308] Chr11:67490966 [GRCh38]
Chr11:67258437 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.645+18_645+29del deletion not provided [RCV002810246] Chr11:67490230..67490241 [GRCh38]
Chr11:67257701..67257712 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.717G>A (p.Gln239=) single nucleotide variant not provided [RCV003008396] Chr11:67490387 [GRCh38]
Chr11:67257858 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.208C>G (p.Leu70Val) single nucleotide variant not provided [RCV002833679] Chr11:67487114 [GRCh38]
Chr11:67254585 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.788-12C>T single nucleotide variant not provided [RCV002646591] Chr11:67490776 [GRCh38]
Chr11:67258247 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.333C>T (p.Gly111=) single nucleotide variant not provided [RCV002834190] Chr11:67489320 [GRCh38]
Chr11:67256791 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.315C>T (p.Leu105=) single nucleotide variant not provided [RCV003009434] Chr11:67489302 [GRCh38]
Chr11:67256773 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.58G>A (p.Glu20Lys) single nucleotide variant not provided [RCV002832949] Chr11:67483216 [GRCh38]
Chr11:67250687 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.33C>G (p.Asp11Glu) single nucleotide variant not provided [RCV002716055] Chr11:67483191 [GRCh38]
Chr11:67250662 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.99+7G>A single nucleotide variant not provided [RCV002671280] Chr11:67483264 [GRCh38]
Chr11:67250735 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.99+9C>T single nucleotide variant not provided [RCV002578367] Chr11:67483266 [GRCh38]
Chr11:67250737 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.493C>T (p.Gln165Ter) single nucleotide variant not provided [RCV002857711] Chr11:67490062 [GRCh38]
Chr11:67257533 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.484A>G (p.Thr162Ala) single nucleotide variant not provided [RCV002938182] Chr11:67490053 [GRCh38]
Chr11:67257524 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.805T>C (p.Phe269Leu) single nucleotide variant not provided [RCV003029200] Chr11:67490805 [GRCh38]
Chr11:67258276 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.11T>C (p.Ile4Thr) single nucleotide variant not provided [RCV003010287] Chr11:67483169 [GRCh38]
Chr11:67250640 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.468+10C>T single nucleotide variant not provided [RCV003027733] Chr11:67489465 [GRCh38]
Chr11:67256936 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.748G>C (p.Val250Leu) single nucleotide variant not provided [RCV003049912] Chr11:67490418 [GRCh38]
Chr11:67257889 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.502T>C (p.Trp168Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003348900]|not provided [RCV002721556] Chr11:67490071 [GRCh38]
Chr11:67257542 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.771C>A (p.Ile257=) single nucleotide variant not provided [RCV003050098] Chr11:67490441 [GRCh38]
Chr11:67257912 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.645+15C>G single nucleotide variant not provided [RCV002653372] Chr11:67490229 [GRCh38]
Chr11:67257700 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.864T>C (p.Phe288=) single nucleotide variant not provided [RCV002611749] Chr11:67490864 [GRCh38]
Chr11:67258335 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.34G>A (p.Gly12Arg) single nucleotide variant not provided [RCV002589565] Chr11:67483192 [GRCh38]
Chr11:67250663 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.182A>T (p.Glu61Val) single nucleotide variant not provided [RCV003225350] Chr11:67487088 [GRCh38]
Chr11:67254559 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.106T>G (p.Phe36Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003214334] Chr11:67487012 [GRCh38]
Chr11:67254483 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.31G>T (p.Asp11Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306736] Chr11:67483189 [GRCh38]
Chr11:67250660 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.981C>T (p.Ile327=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172574] Chr11:67490981 [GRCh38]
Chr11:67258452 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.641T>C (p.Met214Thr) single nucleotide variant Inborn genetic diseases [RCV003219878] Chr11:67490210 [GRCh38]
Chr11:67257681 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.188T>C (p.Ile63Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165086] Chr11:67487094 [GRCh38]
Chr11:67254565 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.905T>C (p.Val302Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003199418] Chr11:67490905 [GRCh38]
Chr11:67258376 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.988C>T (p.His330Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003214345] Chr11:67490988 [GRCh38]
Chr11:67258459 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.924C>G (p.Ala308=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172575] Chr11:67490924 [GRCh38]
Chr11:67258395 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.751C>G (p.Leu251Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172576] Chr11:67490421 [GRCh38]
Chr11:67257892 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.819G>A (p.Lys273=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172577] Chr11:67490819 [GRCh38]
Chr11:67258290 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.631A>G (p.Asn211Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172578] Chr11:67490200 [GRCh38]
Chr11:67257671 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.512C>G (p.Thr171Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165087] Chr11:67490081 [GRCh38]
Chr11:67257552 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.82T>C (p.Phe28Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172579] Chr11:67483240 [GRCh38]
Chr11:67250711 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.247G>C (p.Gly83Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172580] Chr11:67487153 [GRCh38]
Chr11:67254624 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.347A>G (p.Glu116Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172581] Chr11:67489334 [GRCh38]
Chr11:67256805 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.898C>T (p.Pro300Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172582] Chr11:67490898 [GRCh38]
Chr11:67258369 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.546C>T (p.Ile182=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172583] Chr11:67490115 [GRCh38]
Chr11:67257586 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.954A>G (p.Glu318=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172584] Chr11:67490954 [GRCh38]
Chr11:67258425 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.510G>A (p.Met170Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172585]|not provided [RCV003779555] Chr11:67490079 [GRCh38]
Chr11:67257550 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.802T>C (p.Tyr268His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172586] Chr11:67490802 [GRCh38]
Chr11:67258273 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.989A>G (p.His330Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172587] Chr11:67490989 [GRCh38]
Chr11:67258460 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.81C>A (p.Asp27Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172588] Chr11:67483239 [GRCh38]
Chr11:67250710 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.124C>G (p.His42Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172589] Chr11:67487030 [GRCh38]
Chr11:67254501 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.697C>T (p.Leu233=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172590] Chr11:67490367 [GRCh38]
Chr11:67257838 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.98A>G (p.Lys33Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310388] Chr11:67483256 [GRCh38]
Chr11:67250727 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.469-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341905]|not provided [RCV003720852] Chr11:67490035 [GRCh38]
Chr11:67257506 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_003977.4(AIP):c.85C>A (p.Gln29Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341896] Chr11:67483243 [GRCh38]
Chr11:67250714 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.157A>C (p.Ser53Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341903] Chr11:67487063 [GRCh38]
Chr11:67254534 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.276C>T (p.Ile92=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341906] Chr11:67487182 [GRCh38]
Chr11:67254653 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.206A>T (p.Lys69Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341897] Chr11:67487112 [GRCh38]
Chr11:67254583 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.549C>T (p.His183=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358426] Chr11:67490118 [GRCh38]
Chr11:67257589 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.358C>T (p.His120Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358427]|not provided [RCV003575077] Chr11:67489345 [GRCh38]
Chr11:67256816 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.919C>G (p.Arg307Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358428] Chr11:67490919 [GRCh38]
Chr11:67258390 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.921G>C (p.Arg307=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358429] Chr11:67490921 [GRCh38]
Chr11:67258392 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.664G>A (p.Glu222Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358431] Chr11:67490334 [GRCh38]
Chr11:67257805 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.738G>A (p.Glu246=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387065]|not provided [RCV003689073] Chr11:67490408 [GRCh38]
Chr11:67257879 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.523A>C (p.Lys175Gln) single nucleotide variant Somatotroph adenoma [RCV003468058]|not provided [RCV003553954] Chr11:67490092 [GRCh38]
Chr11:67257563 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer) deletion Somatotroph adenoma [RCV003333393] Chr11:67490068..67490074 [GRCh38]
Chr11:67257539..67257545 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_003977.4(AIP):c.16G>A (p.Ala6Thr) single nucleotide variant Somatotroph adenoma [RCV003460124] Chr11:67483174 [GRCh38]
Chr11:67250645 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.757C>T (p.His253Tyr) single nucleotide variant not provided [RCV003569986] Chr11:67490427 [GRCh38]
Chr11:67257898 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.692CGC[3] (p.Pro232_Leu233insPro) microsatellite not provided [RCV003570184] Chr11:67490361..67490362 [GRCh38]
Chr11:67257832..67257833 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.887C>A (p.Pro296Gln) single nucleotide variant Somatotroph adenoma [RCV003468074] Chr11:67490887 [GRCh38]
Chr11:67258358 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.619G>C (p.Ala207Pro) single nucleotide variant Pituitary adenoma predisposition [RCV003486403] Chr11:67490188 [GRCh38]
Chr11:67257659 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.10:g.67482897G>C single nucleotide variant not provided [RCV003398041] Chr11:67482897 [GRCh38]
Chr11:67250368 [GRCh37]
Chr11:11q13.2		 likely benign
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
NM_003977.4(AIP):c.279G>A (p.Lys93=) single nucleotide variant Somatotroph adenoma [RCV003460149]|not provided [RCV003565674] Chr11:67487185 [GRCh38]
Chr11:67254656 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.879G>T (p.Glu293Asp) single nucleotide variant Somatotroph adenoma [RCV003468087] Chr11:67490879 [GRCh38]
Chr11:67258350 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.807C>G (p.Phe269Leu) single nucleotide variant Somatotroph adenoma [RCV003460118] Chr11:67490807 [GRCh38]
Chr11:67258278 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.301_423del (p.Val101_Leu141del) deletion Somatotroph adenoma [RCV003468096] Chr11:67489285..67489407 [GRCh38]
Chr11:67256756..67256878 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_003977.4(AIP):c.844dup (p.Gln282fs) duplication Somatotroph adenoma [RCV003460152] Chr11:67490841..67490842 [GRCh38]
Chr11:67258312..67258313 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_003977.4(AIP):c.204C>G (p.Phe68Leu) single nucleotide variant not provided [RCV003578851] Chr11:67487110 [GRCh38]
Chr11:67254581 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.376C>T (p.Gln126Ter) single nucleotide variant not provided [RCV003714709] Chr11:67489363 [GRCh38]
Chr11:67256834 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.926T>C (p.Leu309Pro) single nucleotide variant not provided [RCV003690879] Chr11:67490926 [GRCh38]
Chr11:67258397 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.958G>A (p.Asp320Asn) single nucleotide variant not provided [RCV003579543] Chr11:67490958 [GRCh38]
Chr11:67258429 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.280-383dup duplication not specified [RCV003494356] Chr11:67488880..67488881 [GRCh38]
Chr11:67256351..67256352 [GRCh37]
Chr11:11q13.2		 benign
NM_003977.4(AIP):c.121C>G (p.Leu41Val) single nucleotide variant not provided [RCV003696279] Chr11:67487027 [GRCh38]
Chr11:67254498 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.95C>G (p.Thr32Ser) single nucleotide variant not provided [RCV003880009] Chr11:67483253 [GRCh38]
Chr11:67250724 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.786C>A (p.Asp262Glu) single nucleotide variant not provided [RCV003660470] Chr11:67490456 [GRCh38]
Chr11:67257927 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.874del (p.Leu292fs) deletion not provided [RCV003547201] Chr11:67490874 [GRCh38]
Chr11:67258345 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.645+20G>C single nucleotide variant not provided [RCV003715909] Chr11:67490234 [GRCh38]
Chr11:67257705 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.455T>G (p.Met152Arg) single nucleotide variant not provided [RCV003686491] Chr11:67489442 [GRCh38]
Chr11:67256913 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.469-15C>T single nucleotide variant not provided [RCV003695387] Chr11:67490023 [GRCh38]
Chr11:67257494 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.820_821delinsTT (p.Ala274Phe) indel not provided [RCV003692457] Chr11:67490820..67490821 [GRCh38]
Chr11:67258291..67258292 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.807C>A (p.Phe269Leu) single nucleotide variant not provided [RCV003687966] Chr11:67490807 [GRCh38]
Chr11:67258278 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.100-15G>C single nucleotide variant not provided [RCV003714238] Chr11:67486991 [GRCh38]
Chr11:67254462 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.173A>G (p.Lys58Arg) single nucleotide variant not provided [RCV003694452] Chr11:67487079 [GRCh38]
Chr11:67254550 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.771C>T (p.Ile257=) single nucleotide variant not provided [RCV003879668] Chr11:67490441 [GRCh38]
Chr11:67257912 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.99+8T>C single nucleotide variant not provided [RCV003828728] Chr11:67483265 [GRCh38]
Chr11:67250736 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.788-8C>T single nucleotide variant not provided [RCV003879375] Chr11:67490780 [GRCh38]
Chr11:67258251 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.474G>C (p.Glu158Asp) single nucleotide variant not provided [RCV003546410] Chr11:67490043 [GRCh38]
Chr11:67257514 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.201G>A (p.Lys67=) single nucleotide variant not provided [RCV003691955] Chr11:67487107 [GRCh38]
Chr11:67254578 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.2(AIP):c.-269_270CG>AA indel not provided [RCV003558393] Chr11:67482889..67482890 [GRCh38]
Chr11:67250360..67250361 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.252_253del (p.Glu84fs) microsatellite not provided [RCV003547930] Chr11:67487156..67487157 [GRCh38]
Chr11:67254627..67254628 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.928G>T (p.Glu310Ter) single nucleotide variant not provided [RCV003714237] Chr11:67490928 [GRCh38]
Chr11:67258399 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.99+9C>G single nucleotide variant not provided [RCV003713156] Chr11:67483266 [GRCh38]
Chr11:67250737 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.258C>T (p.Ala86=) single nucleotide variant not provided [RCV003665811] Chr11:67487164 [GRCh38]
Chr11:67254635 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.469-6C>G single nucleotide variant not provided [RCV003835199] Chr11:67490032 [GRCh38]
Chr11:67257503 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.41_47del (p.Gln14fs) deletion not provided [RCV003703281] Chr11:67483199..67483205 [GRCh38]
Chr11:67250670..67250676 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.51G>C (p.Val17=) single nucleotide variant not provided [RCV003665584] Chr11:67483209 [GRCh38]
Chr11:67250680 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.100-6C>T single nucleotide variant not provided [RCV003856391] Chr11:67487000 [GRCh38]
Chr11:67254471 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.733G>C (p.Glu245Gln) single nucleotide variant not provided [RCV003697017] Chr11:67490403 [GRCh38]
Chr11:67257874 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.439C>A (p.Pro147Thr) single nucleotide variant not provided [RCV003811072] Chr11:67489426 [GRCh38]
Chr11:67256897 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.733GAG[1] (p.Glu246del) microsatellite not provided [RCV003557619] Chr11:67490403..67490405 [GRCh38]
Chr11:67257874..67257876 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.100-5C>T single nucleotide variant not provided [RCV003815975] Chr11:67487001 [GRCh38]
Chr11:67254472 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.286G>A (p.Val96Ile) single nucleotide variant not provided [RCV003723969] Chr11:67489273 [GRCh38]
Chr11:67256744 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.469-19T>C single nucleotide variant not provided [RCV003580367] Chr11:67490019 [GRCh38]
Chr11:67257490 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.788-9C>T single nucleotide variant not provided [RCV003548787] Chr11:67490779 [GRCh38]
Chr11:67258250 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.59A>G (p.Glu20Gly) single nucleotide variant not provided [RCV003837697] Chr11:67483217 [GRCh38]
Chr11:67250688 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.325G>C (p.Ala109Pro) single nucleotide variant not provided [RCV003580432] Chr11:67489312 [GRCh38]
Chr11:67256783 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.869A>G (p.Lys290Arg) single nucleotide variant not provided [RCV003811373] Chr11:67490869 [GRCh38]
Chr11:67258340 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.279+3_279+4del microsatellite not provided [RCV003580897] Chr11:67487186..67487187 [GRCh38]
Chr11:67254657..67254658 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.469-6C>A single nucleotide variant not provided [RCV003697642] Chr11:67490032 [GRCh38]
Chr11:67257503 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.282T>C (p.His94=) single nucleotide variant not provided [RCV003836359] Chr11:67489269 [GRCh38]
Chr11:67256740 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.774C>T (p.Leu258=) single nucleotide variant not provided [RCV003732436] Chr11:67490444 [GRCh38]
Chr11:67257915 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.498C>T (p.Asp166=) single nucleotide variant not provided [RCV003679969] Chr11:67490067 [GRCh38]
Chr11:67257538 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.887C>T (p.Pro296Leu) single nucleotide variant not provided [RCV003709099] Chr11:67490887 [GRCh38]
Chr11:67258358 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.645+7C>T single nucleotide variant not provided [RCV003859795] Chr11:67490221 [GRCh38]
Chr11:67257692 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.663T>C (p.Pro221=) single nucleotide variant not provided [RCV003709401] Chr11:67490333 [GRCh38]
Chr11:67257804 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.564G>A (p.Arg188=) single nucleotide variant not provided [RCV003733788] Chr11:67490133 [GRCh38]
Chr11:67257604 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.12C>T (p.Ile4=) single nucleotide variant not provided [RCV003679550] Chr11:67483170 [GRCh38]
Chr11:67250641 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.436C>G (p.Gln146Glu) single nucleotide variant not provided [RCV003554414] Chr11:67489423 [GRCh38]
Chr11:67256894 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.657G>A (p.Gly219=) single nucleotide variant not provided [RCV003676394] Chr11:67490327 [GRCh38]
Chr11:67257798 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.787+12G>C single nucleotide variant not provided [RCV003733842] Chr11:67490469 [GRCh38]
Chr11:67257940 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.777C>G (p.Asn259Lys) single nucleotide variant not provided [RCV003709767] Chr11:67490447 [GRCh38]
Chr11:67257918 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.171C>G (p.Gly57=) single nucleotide variant not provided [RCV003733243] Chr11:67487077 [GRCh38]
Chr11:67254548 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.77C>T (p.Pro26Leu) single nucleotide variant not provided [RCV003711669] Chr11:67483235 [GRCh38]
Chr11:67250706 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.839A>G (p.Asn280Ser) single nucleotide variant not provided [RCV003680497] Chr11:67490839 [GRCh38]
Chr11:67258310 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.45A>T (p.Lys15Asn) single nucleotide variant not provided [RCV003678374] Chr11:67483203 [GRCh38]
Chr11:67250674 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.10:g.67482890G>C single nucleotide variant not provided [RCV003550308] Chr11:67482890 [GRCh38]
Chr11:67250361 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.427C>T (p.Gln143Ter) single nucleotide variant not provided [RCV003557618] Chr11:67489414 [GRCh38]
Chr11:67256885 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.816del (p.Lys273fs) deletion not provided [RCV003557620] Chr11:67490816 [GRCh38]
Chr11:67258287 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.73C>G (p.Leu25Val) single nucleotide variant not provided [RCV003680803] Chr11:67483231 [GRCh38]
Chr11:67250702 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.884_889del (p.Asp295_Pro296del) deletion not provided [RCV003684480] Chr11:67490883..67490888 [GRCh38]
Chr11:67258354..67258359 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.920G>C (p.Arg307Pro) single nucleotide variant not provided [RCV003554413] Chr11:67490920 [GRCh38]
Chr11:67258391 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.288C>A (p.Val96=) single nucleotide variant not provided [RCV003734007] Chr11:67489275 [GRCh38]
Chr11:67256746 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.245A>G (p.Glu82Gly) single nucleotide variant not provided [RCV003683830] Chr11:67487151 [GRCh38]
Chr11:67254622 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.936G>C (p.Arg312=) single nucleotide variant not provided [RCV003722554] Chr11:67490936 [GRCh38]
Chr11:67258407 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.645G>C (p.Lys215Asn) single nucleotide variant not provided [RCV003553624] Chr11:67490214 [GRCh38]
Chr11:67257685 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.777C>T (p.Asn259=) single nucleotide variant not provided [RCV003555652] Chr11:67490447 [GRCh38]
Chr11:67257918 [GRCh37]
Chr11:11q13.2		 likely benign
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3		 likely pathogenic
NM_003977.4(AIP):c.361T>C (p.Cys121Arg) single nucleotide variant not provided [RCV003820326] Chr11:67489348 [GRCh38]
Chr11:67256819 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.279+4T>C single nucleotide variant not provided [RCV003707230] Chr11:67487189 [GRCh38]
Chr11:67254660 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.645+19G>C single nucleotide variant not provided [RCV003865642] Chr11:67490233 [GRCh38]
Chr11:67257704 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.610G>C (p.Asp204His) single nucleotide variant not provided [RCV003847267] Chr11:67490179 [GRCh38]
Chr11:67257650 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.544A>T (p.Ile182Phe) single nucleotide variant not provided [RCV003681181] Chr11:67490113 [GRCh38]
Chr11:67257584 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.708C>T (p.Asn236=) single nucleotide variant not provided [RCV003682757] Chr11:67490378 [GRCh38]
Chr11:67257849 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.787+10G>C single nucleotide variant not provided [RCV003682773] Chr11:67490467 [GRCh38]
Chr11:67257938 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.958G>T (p.Asp320Tyr) single nucleotide variant not provided [RCV003709076] Chr11:67490958 [GRCh38]
Chr11:67258429 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.770T>G (p.Ile257Ser) single nucleotide variant not provided [RCV003728455] Chr11:67490440 [GRCh38]
Chr11:67257911 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.70G>A (p.Glu24Lys) single nucleotide variant not provided [RCV003710863] Chr11:67483228 [GRCh38]
Chr11:67250699 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.61G>A (p.Gly21Ser) single nucleotide variant not provided [RCV003731815] Chr11:67483219 [GRCh38]
Chr11:67250690 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.279+20C>T single nucleotide variant not provided [RCV003704354] Chr11:67487205 [GRCh38]
Chr11:67254676 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.99+5G>A single nucleotide variant not provided [RCV003708056] Chr11:67483262 [GRCh38]
Chr11:67250733 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.925C>G (p.Leu309Val) single nucleotide variant not provided [RCV003676234] Chr11:67490925 [GRCh38]
Chr11:67258396 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.141C>T (p.Gly47=) single nucleotide variant not provided [RCV003706822] Chr11:67487047 [GRCh38]
Chr11:67254518 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.279+10C>T single nucleotide variant not provided [RCV003566441] Chr11:67487195 [GRCh38]
Chr11:67254666 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.479C>G (p.Pro160Arg) single nucleotide variant not provided [RCV003731354] Chr11:67490048 [GRCh38]
Chr11:67257519 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.76C>G (p.Pro26Ala) single nucleotide variant not provided [RCV003709622] Chr11:67483234 [GRCh38]
Chr11:67250705 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.147G>C (p.Val49=) single nucleotide variant AIP-related condition [RCV003966866] Chr11:67487053 [GRCh38]
Chr11:67254524 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.-5G>A single nucleotide variant AIP-related condition [RCV003959664] Chr11:67483154 [GRCh38]
Chr11:67250625 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.557G>A (p.Gly186Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358430] Chr11:67490126 [GRCh38]
Chr11:67257597 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.921G>T (p.Arg307=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341899] Chr11:67490921 [GRCh38]
Chr11:67258392 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.919C>A (p.Arg307=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341898] Chr11:67490919 [GRCh38]
Chr11:67258390 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.921G>A (p.Arg307=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341900] Chr11:67490921 [GRCh38]
Chr11:67258392 [GRCh37]
Chr11:11q13.2		 likely benign
NM_003977.4(AIP):c.361_362del (p.Cys121fs) deletion Hereditary cancer-predisposing syndrome [RCV003341902] Chr11:67489348..67489349 [GRCh38]
Chr11:67256819..67256820 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_003977.4(AIP):c.718T>C (p.Cys240Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341901] Chr11:67490388 [GRCh38]
Chr11:67257859 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_003977.4(AIP):c.201G>T (p.Lys67Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341904] Chr11:67487107 [GRCh38]
Chr11:67254578 [GRCh37]
Chr11:11q13.2		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR107hsa-miR-107OncomiRDBexternal_infoNANA22811466

Predicted Target Of
Summary Value
Count of predictions:1231
Count of miRNA genes:708
Interacting mature miRNAs:817
Transcripts:ENST00000279146, ENST00000525341, ENST00000528641, ENST00000529797
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
WI-14069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371167,258,554 - 67,258,703UniSTSGRCh37
Build 361167,015,130 - 67,015,279RGDNCBI36
Celera1164,592,290 - 64,592,439RGD
Cytogenetic Map11q13.3UniSTS
HuRef1163,587,533 - 63,587,682UniSTS
GeneMap99-GB4 RH Map11256.28UniSTS
Whitehead-RH Map11364.1UniSTS
STS-W15227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371167,258,339 - 67,258,549UniSTSGRCh37
Build 361167,014,915 - 67,015,125RGDNCBI36
Celera1164,592,075 - 64,592,285RGD
Cytogenetic Map11q13.3UniSTS
HuRef1163,587,318 - 63,587,528UniSTS
GeneMap99-GB4 RH Map11252.97UniSTS
RH71222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371167,258,303 - 67,258,466UniSTSGRCh37
Build 361167,014,879 - 67,015,042RGDNCBI36
Celera1164,592,039 - 64,592,202RGD
Cytogenetic Map11q13.3UniSTS
HuRef1163,587,282 - 63,587,445UniSTS
RH47507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371167,258,420 - 67,258,545UniSTSGRCh37
Build 361167,014,996 - 67,015,121RGDNCBI36
Celera1164,592,156 - 64,592,281RGD
Cytogenetic Map11q13.3UniSTS
HuRef1163,587,399 - 63,587,524UniSTS
GeneMap99-GB4 RH Map11256.07UniSTS
NCBI RH Map11584.4UniSTS
AIP_2914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371167,258,171 - 67,258,736UniSTSGRCh37
Build 361167,014,747 - 67,015,312RGDNCBI36
Celera1164,591,907 - 64,592,472RGD
HuRef1163,587,150 - 63,587,715UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1
Medium 2439 2960 1721 620 1942 461 4352 2171 3731 418 1459 1612 174 1 1204 2785 6 2
Low 31 5 4 9 4 4 26 3 1 1 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AM236341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM236342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM236343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM236344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG821308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ054206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ420398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU689235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN480874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF066502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF066503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF066504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF066505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF066506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF066507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF066508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF066509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF066510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF158450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF203234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF203235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF203236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF203237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF203238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF203239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF203240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF436256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF437945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF553637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF553638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF553639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF643644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF643645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF643646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF643647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF643648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF643649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF643650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF643651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF660892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU118927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU118928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU183405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU872273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU872274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ514477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ514478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ514479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ403800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ403801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ403802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ403803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ412196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ412197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ847770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ847771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ847773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ847774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ847775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU969040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ316145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY065637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN561683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U31913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000279146   ⟹   ENSP00000279146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,483,026 - 67,491,103 (+)Ensembl
RefSeq Acc Id: ENST00000525341   ⟹   ENSP00000476993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,483,182 - 67,490,997 (+)Ensembl
RefSeq Acc Id: ENST00000528641   ⟹   ENSP00000434982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,483,041 - 67,491,101 (+)Ensembl
RefSeq Acc Id: ENST00000529797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,483,229 - 67,491,077 (+)Ensembl
RefSeq Acc Id: ENST00000682324   ⟹   ENSP00000508017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,483,068 - 67,491,099 (+)Ensembl
RefSeq Acc Id: ENST00000682659   ⟹   ENSP00000507351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,483,155 - 67,491,086 (+)Ensembl
RefSeq Acc Id: ENST00000682699   ⟹   ENSP00000507935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,468,174 - 67,490,946 (+)Ensembl
RefSeq Acc Id: ENST00000683237   ⟹   ENSP00000507343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,483,068 - 67,491,103 (+)Ensembl
RefSeq Acc Id: ENST00000683856   ⟹   ENSP00000507979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,483,488 - 67,491,101 (+)Ensembl
RefSeq Acc Id: ENST00000684006   ⟹   ENSP00000507269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,483,068 - 67,491,102 (+)Ensembl
RefSeq Acc Id: ENST00000684657   ⟹   ENSP00000507961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,483,068 - 67,491,154 (+)Ensembl
RefSeq Acc Id: NM_001302959   ⟹   NP_001289888
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381167,483,516 - 67,491,103 (+)NCBI
CHM1_11167,134,030 - 67,141,623 (+)NCBI
T2T-CHM13v2.01167,477,642 - 67,485,230 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001302960   ⟹   NP_001289889
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381167,483,026 - 67,491,103 (+)NCBI
CHM1_11167,133,543 - 67,141,623 (+)NCBI
T2T-CHM13v2.01167,477,152 - 67,485,230 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003977   ⟹   NP_003968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381167,483,026 - 67,491,103 (+)NCBI
GRCh371167,250,505 - 67,258,579 (+)ENTREZGENE
Build 361167,007,097 - 67,015,150 (+)NCBI Archive
HuRef1163,579,484 - 63,587,558 (+)ENTREZGENE
CHM1_11167,133,543 - 67,141,623 (+)NCBI
T2T-CHM13v2.01167,477,152 - 67,485,230 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054370449   ⟹   XP_054226424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01167,462,305 - 67,485,230 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001289888 (Get FASTA)   NCBI Sequence Viewer  
  NP_001289889 (Get FASTA)   NCBI Sequence Viewer  
  NP_003968 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226424 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB39923 (Get FASTA)   NCBI Sequence Viewer  
  AAB59004 (Get FASTA)   NCBI Sequence Viewer  
  AAI04798 (Get FASTA)   NCBI Sequence Viewer  
  AAI04828 (Get FASTA)   NCBI Sequence Viewer  
  ABK60081 (Get FASTA)   NCBI Sequence Viewer  
  ABK60082 (Get FASTA)   NCBI Sequence Viewer  
  ABK60083 (Get FASTA)   NCBI Sequence Viewer  
  ABK60084 (Get FASTA)   NCBI Sequence Viewer  
  ABO15998 (Get FASTA)   NCBI Sequence Viewer  
  ABO15999 (Get FASTA)   NCBI Sequence Viewer  
  ABO16000 (Get FASTA)   NCBI Sequence Viewer  
  ABO16001 (Get FASTA)   NCBI Sequence Viewer  
  ABO16002 (Get FASTA)   NCBI Sequence Viewer  
  ABO16003 (Get FASTA)   NCBI Sequence Viewer  
  ABQ42344 (Get FASTA)   NCBI Sequence Viewer  
  ABQ45126 (Get FASTA)   NCBI Sequence Viewer  
  ABQ45127 (Get FASTA)   NCBI Sequence Viewer  
  ABQ45128 (Get FASTA)   NCBI Sequence Viewer  
  ABQ50603 (Get FASTA)   NCBI Sequence Viewer  
  ABV03523 (Get FASTA)   NCBI Sequence Viewer  
  ABV03524 (Get FASTA)   NCBI Sequence Viewer  
  ABV03525 (Get FASTA)   NCBI Sequence Viewer  
  ABV03526 (Get FASTA)   NCBI Sequence Viewer  
  ABV03527 (Get FASTA)   NCBI Sequence Viewer  
  ABV03528 (Get FASTA)   NCBI Sequence Viewer  
  ABV26697 (Get FASTA)   NCBI Sequence Viewer  
  ABX82906 (Get FASTA)   NCBI Sequence Viewer  
  ACA01869 (Get FASTA)   NCBI Sequence Viewer  
  ACI41989 (Get FASTA)   NCBI Sequence Viewer  
  ACN38896 (Get FASTA)   NCBI Sequence Viewer  
  ACN38897 (Get FASTA)   NCBI Sequence Viewer  
  ACV21063 (Get FASTA)   NCBI Sequence Viewer  
  ACV41074 (Get FASTA)   NCBI Sequence Viewer  
  ACV41075 (Get FASTA)   NCBI Sequence Viewer  
  ACX54432 (Get FASTA)   NCBI Sequence Viewer  
  ACX54433 (Get FASTA)   NCBI Sequence Viewer  
  ACX54434 (Get FASTA)   NCBI Sequence Viewer  
  ACX54435 (Get FASTA)   NCBI Sequence Viewer  
  ADF49558 (Get FASTA)   NCBI Sequence Viewer  
  ADR74098 (Get FASTA)   NCBI Sequence Viewer  
  AEW31446 (Get FASTA)   NCBI Sequence Viewer  
  CAJ85657 (Get FASTA)   NCBI Sequence Viewer  
  EAW74637 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000279146
  ENSP00000279146.3
  ENSP00000434982.3
  ENSP00000476993.2
  ENSP00000507269.1
  ENSP00000507343
  ENSP00000507343.1
  ENSP00000507351.1
  ENSP00000507935.1
  ENSP00000507961.1
  ENSP00000507979
  ENSP00000507979.1
  ENSP00000508017.1
GenBank Protein O00170 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003968   ⟸   NM_003977
- Peptide Label: isoform 1
- UniProtKB: Q2M3Q2 (UniProtKB/Swiss-Prot),   A0SZW6 (UniProtKB/Swiss-Prot),   A0SZW5 (UniProtKB/Swiss-Prot),   A0SZW4 (UniProtKB/Swiss-Prot),   A0SZW3 (UniProtKB/Swiss-Prot),   Q99606 (UniProtKB/Swiss-Prot),   O00170 (UniProtKB/Swiss-Prot),   G9I2H4 (UniProtKB/TrEMBL),   C0JXB9 (UniProtKB/TrEMBL),   C8CHN4 (UniProtKB/TrEMBL),   C8CK04 (UniProtKB/TrEMBL),   C8CK05 (UniProtKB/TrEMBL),   D0EKE4 (UniProtKB/TrEMBL),   D0EKE6 (UniProtKB/TrEMBL),   D5LTB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289889   ⟸   NM_001302960
- Peptide Label: isoform 3
- UniProtKB: A0A804HJ38 (UniProtKB/TrEMBL),   A0A804HIX8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289888   ⟸   NM_001302959
- Peptide Label: isoform 2
- UniProtKB: A0A804HKL7 (UniProtKB/TrEMBL),   A0A804HKK3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000476993   ⟸   ENST00000525341
RefSeq Acc Id: ENSP00000434982   ⟸   ENST00000528641
RefSeq Acc Id: ENSP00000279146   ⟸   ENST00000279146
RefSeq Acc Id: ENSP00000507961   ⟸   ENST00000684657
RefSeq Acc Id: ENSP00000507343   ⟸   ENST00000683237
RefSeq Acc Id: ENSP00000507351   ⟸   ENST00000682659
RefSeq Acc Id: ENSP00000507269   ⟸   ENST00000684006
RefSeq Acc Id: ENSP00000507979   ⟸   ENST00000683856
RefSeq Acc Id: ENSP00000508017   ⟸   ENST00000682324
RefSeq Acc Id: ENSP00000507935   ⟸   ENST00000682699
RefSeq Acc Id: XP_054226424   ⟸   XM_054370449
- Peptide Label: isoform X1
Protein Domains
PPIase FKBP-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00170-F1-model_v2 AlphaFold O00170 1-330 view protein structure

Promoters
RGD ID:6788434
Promoter ID:HG_KWN:13475
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003977
Position:
Human AssemblyChrPosition (strand)Source
Build 361167,006,791 - 67,007,291 (+)MPROMDB
RGD ID:7221273
Promoter ID:EPDNEW_H16382
Type:initiation region
Name:AIP_1
Description:aryl hydrocarbon receptor interacting protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16383  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381167,483,026 - 67,483,086EPDNEW
RGD ID:7221275
Promoter ID:EPDNEW_H16383
Type:multiple initiation site
Name:AIP_2
Description:aryl hydrocarbon receptor interacting protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16382  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381167,483,135 - 67,483,195EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:358 AgrOrtholog
COSMIC AIP COSMIC
Ensembl Genes ENSG00000110711 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000279146 ENTREZGENE
  ENST00000279146.8 UniProtKB/Swiss-Prot
  ENST00000525341.2 UniProtKB/TrEMBL
  ENST00000528641.7 UniProtKB/TrEMBL
  ENST00000682324.1 UniProtKB/TrEMBL
  ENST00000682659.1 UniProtKB/TrEMBL
  ENST00000682699.1 UniProtKB/TrEMBL
  ENST00000683237 ENTREZGENE
  ENST00000683237.1 UniProtKB/TrEMBL
  ENST00000683856 ENTREZGENE
  ENST00000683856.1 UniProtKB/TrEMBL
  ENST00000684006.1 UniProtKB/TrEMBL
  ENST00000684657.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.50.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110711 GTEx
HGNC ID HGNC:358 ENTREZGENE
Human Proteome Map AIP Human Proteome Map
InterPro AIP/AIPL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPIase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPIase_FKBP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9049 UniProtKB/Swiss-Prot
NCBI Gene 9049 ENTREZGENE
OMIM 605555 OMIM
PANTHER PTHR11242 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11242:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FKBP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24652 PharmGKB
PROSITE FKBP_PPIASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot
Superfamily-SCOP FKBP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A804HIX8 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJ38 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJ46_HUMAN UniProtKB/TrEMBL
  A0A804HKH9_HUMAN UniProtKB/TrEMBL
  A0A804HKK3 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKL7 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKP8_HUMAN UniProtKB/TrEMBL
  A0SZW3 ENTREZGENE
  A0SZW4 ENTREZGENE
  A0SZW5 ENTREZGENE
  A0SZW6 ENTREZGENE
  A3RDR6_HUMAN UniProtKB/TrEMBL
  A3RDR7_HUMAN UniProtKB/TrEMBL
  A3RDR8_HUMAN UniProtKB/TrEMBL
  A3RDR9_HUMAN UniProtKB/TrEMBL
  A3RDS0_HUMAN UniProtKB/TrEMBL
  A3RDS1_HUMAN UniProtKB/TrEMBL
  A5JGZ4_HUMAN UniProtKB/TrEMBL
  A7KS92_HUMAN UniProtKB/TrEMBL
  A7KS93_HUMAN UniProtKB/TrEMBL
  A7KS94_HUMAN UniProtKB/TrEMBL
  A7YDK1_HUMAN UniProtKB/TrEMBL
  A7YDK2_HUMAN UniProtKB/TrEMBL
  A7YDK4_HUMAN UniProtKB/TrEMBL
  A7YDK6_HUMAN UniProtKB/TrEMBL
  A7YDK7_HUMAN UniProtKB/TrEMBL
  A7YDK9_HUMAN UniProtKB/TrEMBL
  A8BQF1_HUMAN UniProtKB/TrEMBL
  AIP_HUMAN UniProtKB/Swiss-Prot
  B7SBB1_HUMAN UniProtKB/TrEMBL
  C0JXB8_HUMAN UniProtKB/TrEMBL
  C0JXB9 ENTREZGENE, UniProtKB/TrEMBL
  C8CHN4 ENTREZGENE, UniProtKB/TrEMBL
  C8CK04 ENTREZGENE, UniProtKB/TrEMBL
  C8CK05 ENTREZGENE, UniProtKB/TrEMBL
  D0EKE4 ENTREZGENE, UniProtKB/TrEMBL
  D0EKE5_HUMAN UniProtKB/TrEMBL
  D0EKE6 ENTREZGENE, UniProtKB/TrEMBL
  D0EKE7_HUMAN UniProtKB/TrEMBL
  D2CVN5_HUMAN UniProtKB/TrEMBL
  D5LTB3 ENTREZGENE, UniProtKB/TrEMBL
  E5L4L0_HUMAN UniProtKB/TrEMBL
  E9PMH2_HUMAN UniProtKB/TrEMBL
  G9I2H4 ENTREZGENE
  O00170 ENTREZGENE
  Q2M3Q2 ENTREZGENE
  Q99606 ENTREZGENE
  V9GYQ3_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0SZW3 UniProtKB/Swiss-Prot
  A0SZW4 UniProtKB/Swiss-Prot
  A0SZW5 UniProtKB/Swiss-Prot
  A0SZW6 UniProtKB/Swiss-Prot
  G9I2H4 UniProtKB/Swiss-Prot
  Q2M3Q2 UniProtKB/Swiss-Prot
  Q99606 UniProtKB/Swiss-Prot