HNF1B (HNF1 homeobox B) - Rat Genome Database

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Gene: HNF1B (HNF1 homeobox B) Homo sapiens
Analyze
Symbol: HNF1B
Name: HNF1 homeobox B
RGD ID: 69136
HGNC Page HGNC:11630
Description: Enables several functions, including DNA-binding transcription factor activity; protein homodimerization activity; and transcription coregulator binding activity. Involved in several processes, including genitalia development; positive regulation of transcription initiation by RNA polymerase II; and pronephros development. Located in nucleoplasm. Implicated in kidney disease; maturity-onset diabetes of the young type 5; pancreas disease; renal cell carcinoma; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADTKD3; FJHN; hepatocyte nuclear factor 1-beta; HNF-1-beta; HNF-1B; HNF1 beta A; HNF1beta; HNF2; homeoprotein LFB3; HPC11; LF-B3; LFB3; MODY5; RCAD; T2D; TCF-2; TCF2; transcription factor 2; transcription factor 2, hepatic; variant hepatic nuclear factor 1; VHNF1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381737,686,431 - 37,745,059 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1737,686,431 - 37,745,059 (-)EnsemblGRCh38hg38GRCh38
GRCh371736,046,434 - 36,105,050 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361733,120,547 - 33,179,209 (-)NCBINCBI36Build 36hg18NCBI36
Build 341733,162,728 - 33,179,182NCBI
Celera1732,869,487 - 32,928,989 (-)NCBICelera
Cytogenetic Map17q12ENTREZGENE
HuRef1731,984,120 - 32,042,660 (-)NCBIHuRef
CHM1_11736,077,994 - 36,136,668 (-)NCBICHM1_1
T2T-CHM13v2.01738,673,401 - 38,732,032 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
2-palmitoylglycerol  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (ISO)
clothianidin  (EXP)
cobalt dichloride  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diazinon  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
diquat  (ISO)
elemental selenium  (ISO)
enzalutamide  (EXP)
fenthion  (ISO)
folic acid  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
glucose  (EXP)
inulin  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
LY294002  (ISO)
methidathion  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
nickel atom  (EXP)
ozone  (ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
PhIP  (EXP)
potassium dichromate  (ISO)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
selenium atom  (ISO)
sodium arsenite  (EXP)
tacrolimus hydrate  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ development  (IEA)
anterior/posterior pattern specification  (IEA,ISO)
apoptotic process  (IEA,ISO)
branching morphogenesis of an epithelial tube  (IEA,ISO)
circadian regulation of gene expression  (ISO)
embryonic digestive tract morphogenesis  (IEA,ISO)
embryonic morphogenesis  (ISO)
endocrine pancreas development  (IMP)
endoderm development  (IEA,ISO)
endodermal cell fate specification  (IEA,ISO)
epithelial cell proliferation  (IEA,ISO)
epithelium development  (IEA,ISO)
genitalia development  (IMP)
hepatoblast differentiation  (IEA,ISO)
hepatocyte differentiation  (ISO)
hindbrain development  (IEA,ISO)
inner cell mass cell differentiation  (IEA,ISO)
insulin secretion  (IEA,ISO)
kidney development  (IDA,IEA,IMP,ISO)
kidney morphogenesis  (IEA,ISO)
liver development  (IEA,ISO)
mesenchymal cell apoptotic process involved in metanephros development  (IEA,ISO)
mesonephric duct development  (IEA,ISO)
mesonephric duct formation  (IEA,ISO)
mesonephric tubule development  (IEA,ISO)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis  (IEA,ISO)
negative regulation of mesenchymal cell apoptotic process involved in metanephros development  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
nephric duct development  (IEA,ISO)
nephric duct formation  (IEA,ISO)
Notch signaling pathway  (IEA,ISO)
pancreas development  (IEA)
positive regulation of DNA-templated transcription  (IDA,IEA,ISO)
positive regulation of gene expression  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
positive regulation of transcription initiation by RNA polymerase II  (IDA)
pronephric nephron tubule development  (IGI)
pronephros development  (IMP)
protein-DNA complex assembly  (ISO)
regulation of branch elongation involved in ureteric bud branching  (IEA,ISO)
regulation of pronephros size  (IMP)
regulation of transcription by RNA polymerase II  (IBA,IEA)
regulation of Wnt signaling pathway  (IEA,ISO)
response to biphenyl  (ISO)
response to carbohydrate  (ISO)
response to glucose  (IEA,ISO)
response to xenobiotic stimulus  (ISO)
system development  (IEA)
ureteric bud elongation  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal renal morphology  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormality of alkaline phosphatase level  (IAGP)
Abnormality of endocrine pancreas physiology  (IAGP)
Abnormality of exocrine pancreas physiology  (IAGP)
Abnormality of the genital system  (IAGP)
Abnormality of the kidney  (IAGP)
Absent vas deferens  (IAGP)
Acute kidney injury  (IAGP)
Aplasia/Hypoplasia of the pancreas  (IAGP)
Aplasia/hypoplasia of the uterus  (IAGP)
Arthritis  (IAGP)
Atretic vas deferens  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Azoospermia  (IAGP)
Bicornuate uterus  (IAGP)
Biliary tract abnormality  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Clear cell renal cell carcinoma  (IAGP)
Cryptorchidism  (IAGP)
Decreased numbers of nephrons  (IAGP)
Diabetes mellitus  (IAGP)
Distal renal tubular acidosis  (IAGP)
Ectopic kidney  (IAGP)
Elevated circulating creatinine concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Epididymal cyst  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Feeding difficulties  (IAGP)
Global developmental delay  (IAGP)
Glomerulopathy  (IAGP)
Glucose intolerance  (IAGP)
Glycosuria  (IAGP)
Gout  (IAGP)
Hearing impairment  (IAGP)
Hematuria  (IAGP)
Hemihypertrophy  (IAGP)
Hepatic steatosis  (IAGP)
Horseshoe kidney  (IAGP)
Hypercalciuria  (IAGP)
Hyperechogenic kidneys  (IAGP)
Hyperuricemia  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Impaired glucose tolerance  (IAGP)
Increased waist to hip ratio  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Jaundice  (IAGP)
Joint hypermobility  (IAGP)
Language impairment  (IAGP)
Large fontanelles  (IAGP)
Late onset  (IAGP)
Low posterior hairline  (IAGP)
Mandibular prognathia  (IAGP)
Maturity-onset diabetes of the young  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Multiple glomerular cysts  (IAGP)
Nephrolithiasis  (IAGP)
Oligohydramnios  (IAGP)
Ovarian neoplasm  (IAGP)
Pancreatic aplasia  (IAGP)
Pancreatic atrophy  (IAGP)
Pancreatic hypoplasia  (IAGP)
Papillary cystadenoma of the epididymis  (IAGP)
Polydipsia  (IAGP)
Proteinuria  (IAGP)
Pyloric stenosis  (IAGP)
Reduced sperm motility  (IAGP)
Renal agenesis  (IAGP)
Renal cell carcinoma  (IAGP)
Renal cyst  (IAGP)
Renal dysplasia  (IAGP)
Renal Fanconi syndrome  (IAGP)
Renal hypoplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Shawl scrotum  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Sporadic  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Subcortical cerebral atrophy  (IAGP)
Type II diabetes mellitus  (IAGP)
Unilateral renal agenesis  (IAGP)
Ureterocele  (IAGP)
Ureteropelvic junction obstruction  (IAGP)
Vertebral segmentation defect  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Bellanne-Chantelot C, etal., Ann Intern Med. 2004 Apr 6;140(7):510-7.
2. Mutations in MODY genes are not common cause of early-onset type 2 diabetes in Mexican families. Dominguez-Lopez A, etal., JOP. 2005 May 10;6(3):238-45.
3. Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease. Edghill EL, etal., Nephrol Dial Transplant. 2008 Feb;23(2):627-35. Epub 2007 Oct 30.
4. Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus. Iwasaki N, etal., Diabetologia. 2001 Mar;44(3):387-8.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. Raile K, etal., J Clin Endocrinol Metab. 2009 Jul;94(7):2658-64. Epub 2009 May 5.
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. Weber S, etal., J Am Soc Nephrol. 2006 Oct;17(10):2864-70. Epub 2006 Sep 13.
Additional References at PubMed
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PMID:19924231   PMID:19959718   PMID:19998368   PMID:20025686   PMID:20075150   PMID:20155289   PMID:20161779   PMID:20203524   PMID:20211142   PMID:20215779   PMID:20301750   PMID:20378641  
PMID:20379614   PMID:20384434   PMID:20450899   PMID:20460480   PMID:20526366   PMID:20538322   PMID:20543213   PMID:20571754   PMID:20581827   PMID:20590552   PMID:20628086   PMID:20633866  
PMID:20668890   PMID:20676098   PMID:20682687   PMID:20690139   PMID:20712903   PMID:20717903   PMID:20878950   PMID:20879858   PMID:20889853   PMID:21071540   PMID:21130072   PMID:21160077  
PMID:21163139   PMID:21281489   PMID:21380624   PMID:21438902   PMID:21496868   PMID:21499250   PMID:21576123   PMID:21743057   PMID:21775974   PMID:21873635   PMID:21982019   PMID:22034641  
PMID:22051731   PMID:22060211   PMID:22114815   PMID:22160269   PMID:22269832   PMID:22299039   PMID:22495362   PMID:22587559   PMID:22591187   PMID:22641569   PMID:22730461   PMID:22747504  
PMID:22961080   PMID:23193118   PMID:23203386   PMID:23237209   PMID:23300827   PMID:23535649   PMID:23535730   PMID:23539225   PMID:23704921   PMID:23725647   PMID:23945395   PMID:23979948  
PMID:24040285   PMID:24071869   PMID:24103020   PMID:24105991   PMID:24119877   PMID:24204001   PMID:24254850   PMID:24332637   PMID:24387224   PMID:24509480   PMID:24698406   PMID:24740154  
PMID:24804869   PMID:24897035   PMID:24953961   PMID:24968817   PMID:25052070   PMID:25177939   PMID:25256560   PMID:25324567   PMID:25367728   PMID:25378557   PMID:25441779   PMID:25500806  
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Genomics

Comparative Map Data
HNF1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381737,686,431 - 37,745,059 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1737,686,431 - 37,745,059 (-)EnsemblGRCh38hg38GRCh38
GRCh371736,046,434 - 36,105,050 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361733,120,547 - 33,179,209 (-)NCBINCBI36Build 36hg18NCBI36
Build 341733,162,728 - 33,179,182NCBI
Celera1732,869,487 - 32,928,989 (-)NCBICelera
Cytogenetic Map17q12ENTREZGENE
HuRef1731,984,120 - 32,042,660 (-)NCBIHuRef
CHM1_11736,077,994 - 36,136,668 (-)NCBICHM1_1
T2T-CHM13v2.01738,673,401 - 38,732,032 (-)NCBIT2T-CHM13v2.0
Hnf1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391183,741,035 - 83,796,743 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1183,740,889 - 83,796,645 (+)EnsemblGRCm39 Ensembl
GRCm381183,850,209 - 83,905,917 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1183,850,063 - 83,905,819 (+)EnsemblGRCm38mm10GRCm38
MGSCv371183,664,371 - 83,719,317 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361183,667,244 - 83,721,542 (+)NCBIMGSCv36mm8
Celera1193,455,173 - 93,510,691 (+)NCBICelera
Cytogenetic Map11CNCBI
cM Map1151.23NCBI
Hnf1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81069,233,377 - 69,287,360 (+)NCBIGRCr8
mRatBN7.21068,735,894 - 68,789,888 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1068,735,894 - 68,789,888 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1073,355,884 - 73,409,885 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01072,860,897 - 72,914,896 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01068,325,325 - 68,379,318 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01071,159,863 - 71,218,902 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1071,159,869 - 71,218,902 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01070,778,492 - 70,829,745 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41072,081,091 - 72,187,014 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11072,095,460 - 72,201,382 (+)NCBI
Celera1067,668,848 - 67,719,403 (+)NCBICelera
Cytogenetic Map10q26NCBI
Hnf1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955451320,283 - 371,420 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955451320,283 - 371,420 (+)NCBIChiLan1.0ChiLan1.0
HNF1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21927,010,609 - 27,069,149 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11728,894,053 - 28,952,591 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01719,333,485 - 19,392,147 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11719,633,424 - 19,691,863 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1719,633,424 - 19,691,863 (+)Ensemblpanpan1.1panPan2
HNF1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1937,437,992 - 37,493,200 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl937,438,583 - 37,492,993 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha936,661,511 - 36,717,034 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0938,248,175 - 38,303,484 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl938,248,763 - 38,303,129 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1937,029,129 - 37,084,643 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0937,316,583 - 37,372,144 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0937,403,808 - 37,459,176 (-)NCBIUU_Cfam_GSD_1.0
Hnf1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560236,371,915 - 36,425,499 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936490649,546 - 702,672 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936490649,551 - 702,448 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HNF1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1239,143,121 - 39,201,631 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11239,143,119 - 39,201,631 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21240,788,316 - 40,846,557 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HNF1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11630,033,486 - 30,097,106 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1630,036,766 - 30,097,088 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666077760,378 - 820,920 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hnf1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248714,661,669 - 4,712,960 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248714,662,104 - 4,713,125 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HNF1B
540 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000458.4(HNF1B):c.1046-12G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464235]|Renal cysts and diabetes syndrome [RCV002481673]|not provided [RCV002525037]|not specified [RCV000516957] Chr17:37710675 [GRCh38]
Chr17:36070683 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.61G>A (p.Val21Ile) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464245]|not provided [RCV000519912] Chr17:37744824 [GRCh38]
Chr17:36104815 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
NM_000458.4(HNF1B):c.-14dup duplication Maturity onset diabetes mellitus in young [RCV002464082]|Renal cysts and diabetes syndrome [RCV000030517] Chr17:37744897..37744898 [GRCh38]
Chr17:36104888..36104889 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr) single nucleotide variant HNF1B-related disorder [RCV003398576]|Renal cysts and diabetes syndrome [RCV000030518]|not provided [RCV001852605] Chr17:37731634 [GRCh38]
Chr17:36091625 [GRCh37]
Chr17:17q12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.1045+12T>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465494]|Renal cysts and diabetes syndrome [RCV000030519]|not provided [RCV003114206]|not specified [RCV000420033] Chr17:37731583 [GRCh38]
Chr17:36091574 [GRCh37]
Chr17:17q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464083]|Renal cysts and diabetes syndrome [RCV000030520] Chr17:37704931 [GRCh38]
Chr17:36064938 [GRCh37]
Chr17:17q12		 likely pathogenic|likely risk allele
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787252]|Renal cysts and diabetes syndrome [RCV002490424]|not provided [RCV000730643]|not specified [RCV000030521] Chr17:37744745 [GRCh38]
Chr17:36104736 [GRCh37]
Chr17:17q12		 likely pathogenic|uncertain significance
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) single nucleotide variant HNF1B-related disorder [RCV003891448]|Maturity onset diabetes mellitus in young [RCV002390125]|Nonpapillary renal cell carcinoma [RCV003315520]|Renal cysts and diabetes syndrome [RCV000030522]|not provided [RCV001719702]|not specified [RCV000247064] Chr17:37701104 [GRCh38]
Chr17:36061109 [GRCh37]
Chr17:17q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC indel Maturity onset diabetes mellitus in young [RCV002464084]|Renal cysts and diabetes syndrome [RCV000030523]|not specified [RCV000516222] Chr17:37687401..37687403 [GRCh38]
Chr17:36047404..36047406 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.1654-22= single nucleotide variant Renal cysts and diabetes syndrome [RCV000030524]|not provided [RCV001668145] Chr17:37687414 [GRCh38]
Chr17:36047417 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.1654-4G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002399347]|Renal cysts and diabetes syndrome [RCV000030525]|not provided [RCV000728201] Chr17:37687396 [GRCh38]
Chr17:36047399 [GRCh37]
Chr17:17q12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000030526] Chr17:37744664 [GRCh38]
Chr17:36104655 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464085]|Renal cysts and diabetes syndrome [RCV000030527] Chr17:37744541 [GRCh38]
Chr17:36104532 [GRCh37]
Chr17:17q12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.345-19C>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464086]|Nonpapillary renal cell carcinoma [RCV003315521]|Renal cysts and diabetes syndrome [RCV000030528]|not provided [RCV000993278]|not specified [RCV000175611] Chr17:37739658 [GRCh38]
Chr17:36099649 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.345-1G>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464087]|Renal cysts and diabetes syndrome [RCV000030529] Chr17:37739640 [GRCh38]
Chr17:36099631 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer) deletion Renal cysts and diabetes syndrome [RCV000030530]|Renal cysts and diabetes syndrome [RCV002477029]|not provided [RCV002513268] Chr17:37739507 [GRCh38]
Chr17:36099498 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg) single nucleotide variant Renal cysts and diabetes syndrome [RCV000030531] Chr17:37739473 [GRCh38]
Chr17:36099464 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp) single nucleotide variant Renal cysts and diabetes syndrome [RCV000030532]|not provided [RCV001852606] Chr17:37733663 [GRCh38]
Chr17:36093656 [GRCh37]
Chr17:17q12		 likely pathogenic|uncertain significance
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002250467]|Nonpapillary renal cell carcinoma [RCV003315522]|Renal cysts and diabetes syndrome [RCV000030533]|not provided [RCV002054524]|not specified [RCV000345835] Chr17:37744812 [GRCh38]
Chr17:36104803 [GRCh37]
Chr17:17q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464088]|Renal cysts and diabetes syndrome [RCV000030534]|not provided [RCV000727488]|not specified [RCV000244023] Chr17:37733616 [GRCh38]
Chr17:36093609 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser) single nucleotide variant Renal cysts and diabetes syndrome [RCV000030535]|not provided [RCV001852607] Chr17:37731691 [GRCh38]
Chr17:36091682 [GRCh37]
Chr17:17q12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002371795]|Renal cysts and diabetes syndrome [RCV000030536]|Renal cysts and diabetes syndrome [RCV002490425]|not provided [RCV000993284]|not specified [RCV000283890] Chr17:37731689 [GRCh38]
Chr17:36091680 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844804]|Renal cysts and diabetes syndrome [RCV000030537] Chr17:37731678 [GRCh38]
Chr17:36091669 [GRCh37]
Chr17:17q12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000013470]|Renal cysts and diabetes syndrome [RCV002496342]|not provided [RCV001851826] Chr17:37739455 [GRCh38]
Chr17:36099446 [GRCh37]
Chr17:17q12		 pathogenic|uncertain significance
HNF1B, 75-BP DEL, NT409 deletion Renal cysts and diabetes syndrome [RCV000013471] Chr17:17q12 pathogenic
HNF1B, 5-BP DEL deletion Renal cysts and diabetes syndrome [RCV000013472] Chr17:17q12 pathogenic
NM_000458.4(HNF1B):c.301G>T (p.Glu101Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000013473] Chr17:37744584 [GRCh38]
Chr17:36104575 [GRCh37]
Chr17:17q12		 pathogenic
HNF1B, 1-BP DEL deletion Renal cysts and diabetes syndrome [RCV000013474] Chr17:17q12 pathogenic
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter) single nucleotide variant Autosomal dominant medullary cystic kidney disease with or without hyperuricemia [RCV001328308]|Maturity onset diabetes mellitus in young [RCV004689416]|Renal cysts and diabetes syndrome [RCV000013475]|Renal cysts and diabetes syndrome [RCV002496343]|not provided [RCV002472930] Chr17:37731814 [GRCh38]
Chr17:36091805 [GRCh37]
Chr17:17q12		 pathogenic|uncertain significance
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg) single nucleotide variant Ovarian cancer [RCV003153303]|Renal cysts and diabetes syndrome [RCV001124747]|Type 2 diabetes mellitus [RCV000013476] Chr17:37701122 [GRCh38]
Chr17:36061127 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter) duplication Renal cysts and diabetes syndrome [RCV000013477] Chr17:37710653..37710654 [GRCh38]
Chr17:36070661..36070662 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.544+1G>A single nucleotide variant Renal cysts and diabetes syndrome [RCV000013478]|Renal cysts and diabetes syndrome [RCV002504781]|not provided [RCV001794444] Chr17:37739439 [GRCh38]
Chr17:36099430 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.544+1G>T single nucleotide variant HNF1B-related disorder [RCV003390678]|Renal cysts and diabetes syndrome [RCV000013479]|not provided [RCV002266902] Chr17:37739439 [GRCh38]
Chr17:36099430 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp) single nucleotide variant Renal cysts and diabetes syndrome [RCV000013480]|not provided [RCV001551662] Chr17:37739541 [GRCh38]
Chr17:36099532 [GRCh37]
Chr17:17q12		 pathogenic
HNF1B, EX5DUP duplication Renal cysts and diabetes syndrome [RCV000013481] Chr17:17q12 pathogenic
NM_000458.4(HNF1B):c.494G>A (p.Arg165His) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002051783]|Renal cysts and diabetes syndrome [RCV000013482]|Renal cysts and diabetes syndrome [RCV002482860]|Type 2 diabetes mellitus [RCV002466400]|not provided [RCV001659694] Chr17:37739490 [GRCh38]
Chr17:36099481 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.46del (p.Leu16fs) deletion Chromophobe renal cell carcinoma [RCV000013483]|Renal cysts and diabetes syndrome [RCV000787258] Chr17:37744839 [GRCh38]
Chr17:36104830 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.298A>G (p.Thr100Ala) single nucleotide variant not provided [RCV000729928] Chr17:37744587 [GRCh38]
Chr17:36104578 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.58G>A (p.Gly20Arg) single nucleotide variant not provided [RCV000723017]|not specified [RCV003235374] Chr17:37744827 [GRCh38]
Chr17:36104818 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.1336C>G (p.Gln446Glu) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464298]|not provided [RCV000728275] Chr17:37704920 [GRCh38]
Chr17:36064927 [GRCh37]
Chr17:17q12		 likely risk allele|uncertain significance
NM_000458.4(HNF1B):c.146C>G (p.Ser49Cys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465697]|not provided [RCV000519198] Chr17:37744739 [GRCh38]
Chr17:36104730 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
NM_000458.4(HNF1B):c.1338A>G (p.Gln446=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464299]|not provided [RCV000729056] Chr17:37704918 [GRCh38]
Chr17:36064925 [GRCh37]
Chr17:17q12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.1654-9T>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464300]|not provided [RCV000729098]|not specified [RCV001816796] Chr17:37687401 [GRCh38]
Chr17:36047404 [GRCh37]
Chr17:17q12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.1614C>T (p.Ser538=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465761]|not provided [RCV000729107] Chr17:37699115 [GRCh38]
Chr17:36059121 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.344+1G>A single nucleotide variant Renal cysts and diabetes syndrome [RCV000787228]|not provided [RCV000517166] Chr17:37744540 [GRCh38]
Chr17:36104531 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34508117-36248918)x3 copy number gain See cases [RCV000050286] Chr17:34508117..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting data from submitters
GRCh37/hg19 17q12(chr17:34856055-36248918)x1 copy number loss See cases [RCV000050449] Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36500215-37889296)x3 copy number gain See cases [RCV000050448] Chr17:36500215..37889296 [GRCh38]
Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh37/hg19 17q12(chr17:34611352-36248918)x3 copy number gain See cases [RCV000051076] Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 17q12(chr17:36357258-37889296)x1 copy number loss See cases [RCV000051077] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001328309]|HNF1B-related disorder [RCV003947459]|Nonpapillary renal cell carcinoma [RCV003316074]|Renal cysts and diabetes syndrome [RCV000369522]|not provided [RCV000993276]|not specified [RCV000173138] Chr17:37744659 [GRCh38]
Chr17:36104650 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17q12(chr17:36422657-37890225)x1 copy number loss See cases [RCV000054376] Chr17:36422657..37890225 [GRCh38]
Chr17:34768966..36263019 [GRCh37]
Chr17:31843079..33373530 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36493974-37890225)x1 copy number loss See cases [RCV000054378] Chr17:36493974..37890225 [GRCh38]
Chr17:34849818..36263019 [GRCh37]
Chr17:31923931..33346418 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36500015-37889437)x3 copy number gain See cases [RCV000054380] Chr17:36500015..37889437 [GRCh38]
Chr17:34855855..36249059 [GRCh37]
Chr17:31929968..33323172 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34855855-36249059)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054381]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054381]|See cases [RCV000054381] Chr17:34855855..36249059 [GRCh37]
Chr17:31929968..33323172 [NCBI36]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.499G>C (p.Ala167Pro) single nucleotide variant Monogenic diabetes [RCV000664146] Chr17:37739485 [GRCh38]
Chr17:36099476 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465749]|Monogenic diabetes [RCV000664145]|Renal cysts and diabetes syndrome [RCV001124748]|not provided [RCV001557526] Chr17:37701144 [GRCh38]
Chr17:36061149 [GRCh37]
Chr17:17q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844814]|HNF1B-related disorder [RCV003937545]|Maturity onset diabetes mellitus in young [RCV002444693]|Monogenic diabetes [RCV001174365]|Renal cysts and diabetes syndrome [RCV000314789]|not provided [RCV000724384]|not specified [RCV000173137] Chr17:37744641 [GRCh38]
Chr17:36104632 [GRCh37]
Chr17:17q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.1535-44G>C single nucleotide variant not provided [RCV001545358] Chr17:37699238 [GRCh38]
Chr17:36059244 [GRCh37]
Chr17:17q12		 likely benign
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh37/hg19 17q12(chr17:34450405-36248918)x1 copy number loss See cases [RCV000133661] Chr17:34450405..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:35076189-36248926)x1 copy number loss See cases [RCV000134125] Chr17:35076189..36248926 [GRCh37]
Chr17:32150302..33323039 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34508117-36248918)x3 copy number gain See cases [RCV000148166] Chr17:34508117..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36188700)x1 copy number loss See cases [RCV000137917] Chr17:34817422..36188700 [GRCh37]
Chr17:31891535..33262813 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36446545-38225796)x1 copy number loss See cases [RCV000137918] Chr17:36446545..38225796 [GRCh38]
Chr17:34817422..36263019 [GRCh37]
Chr17:31891535..33635633 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36357258-38225796)x3 copy number gain See cases [RCV000138816] Chr17:36357258..38225796 [GRCh38]
Chr17:34611352..36263019 [GRCh37]
Chr17:31635465..33635633 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh38/hg38 17q12(chr17:36500465-37889304)x1 copy number loss See cases [RCV000138632] Chr17:36500465..37889304 [GRCh38]
Chr17:34856305..36248926 [GRCh37]
Chr17:31930418..33323039 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36461608-37889296)x3 copy number gain See cases [RCV000138608] Chr17:36461608..37889296 [GRCh38]
Chr17:34817422..36248918 [GRCh37]
Chr17:31891535..33323031 [NCBI36]
Chr17:17q12		 likely pathogenic|uncertain significance
GRCh37/hg19 17q12(chr17:34817422-36248918)x1 copy number loss See cases [RCV000138609] Chr17:34817422..36248918 [GRCh37]
Chr17:31891535..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting data from submitters
GRCh37/hg19 17q12(chr17:34360168-36248859)x1 copy number loss See cases [RCV000140228] Chr17:34360168..36248859 [GRCh37]
Chr17:31384281..33322972 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248859)x3 copy number gain See cases [RCV000141116] Chr17:34856055..36248859 [GRCh37]
Chr17:31930168..33322972 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248859)x1 copy number loss See cases [RCV000141117] Chr17:34856055..36248859 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36393628)x1 copy number loss See cases [RCV000142004] Chr17:34822466..36393628 [GRCh37]
Chr17:31896579..33647435 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34437482-36244358)x3 copy number gain See cases [RCV000141832] Chr17:34437482..36244358 [GRCh37]
Chr17:31461595..33318471 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh38/hg38 17q12(chr17:36566143-37808105)x3 copy number gain See cases [RCV000141558] Chr17:36566143..37808105 [GRCh38]
Chr17:34817452..36168075 [GRCh37]
Chr17:31891565..33242188 [NCBI36]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34822466-36307773)x1 copy number loss See cases [RCV000142028] Chr17:34822466..36307773 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36350005)x3 copy number gain See cases [RCV000142072] Chr17:34822465..36350005 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36283612)x1 copy number loss See cases [RCV000142090] Chr17:34822466..36283612 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36316161)x1 copy number loss See cases [RCV000142104] Chr17:34822466..36316161 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:36059104-36244358)x3 copy number gain See cases [RCV000142124] Chr17:36059104..36244358 [GRCh37]
Chr17:33133217..33318471 [NCBI36]
Chr17:17q12		 likely benign|uncertain significance
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss See cases [RCV000142180] Chr17:34822465..36283807 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283612)x3 copy number gain See cases [RCV000143663] Chr17:34822465..36283612 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh38/hg38 17q12(chr17:36357258-37889296)x1 copy number loss See cases [RCV000148256] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36500215-37889296)x1 copy number loss See cases [RCV000148120] Chr17:36500215..37889296 [GRCh38]
Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36357258-37889296)x3 copy number gain See cases [RCV000148124] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248918)x3 copy number gain See cases [RCV000148172] Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic
NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del deletion Chromosome 17q12 deletion syndrome [RCV000191150] Chr17:34437475..36214026 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.974G>A (p.Ser325Asn) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465555]|not provided [RCV000178104] Chr17:37731666 [GRCh38]
Chr17:36091657 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
GRCh37/hg19 17q12(chr17:35958761-36224189)x3 copy number gain See cases [RCV000052478] Chr17:35958761..36224189 [GRCh37]
Chr17:33032874..33298302 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34508117-36173763)x1 copy number loss See cases [RCV000054375] Chr17:34508117..36173763 [GRCh37]
Chr17:31474518..33247876 [NCBI36]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464160]|Renal cysts and diabetes syndrome [RCV000399259]|Renal cysts and diabetes syndrome [RCV002494897]|not provided [RCV000374880] Chr17:37705049 [GRCh38]
Chr17:36065056 [GRCh37]
Chr17:17q12		 likely risk allele|uncertain significance
GRCh37/hg19 17q12(chr17:34849849-36151346)x1 copy number loss See cases [RCV000240223] Chr17:34849849..36151346 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34899836-36177728)x1 copy number loss See cases [RCV000051228] Chr17:34899836..36177728 [GRCh37]
Chr17:31973949..33251841 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34310998-36297053)x3 copy number gain See cases [RCV000051912] Chr17:34310998..36297053 [GRCh37]
Chr17:31335111..33373530 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34360168-36209228)x3 copy number gain See cases [RCV000051914] Chr17:34360168..36209228 [GRCh37]
Chr17:31384281..33283341 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815184-36209228)x3 copy number gain See cases [RCV000051915] Chr17:34815184..36209228 [GRCh37]
Chr17:31889297..33283341 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36173763)x3 copy number gain See cases [RCV000051916] Chr17:34817422..36173763 [GRCh37]
Chr17:31891535..33247876 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36168104)x1 copy number loss See cases [RCV000054377] Chr17:34817422..36168104 [GRCh37]
Chr17:31891535..33242217 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34851537-36173763)x1 copy number loss See cases [RCV000054379] Chr17:34851537..36173763 [GRCh37]
Chr17:31925650..33247876 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34899836-36224189)x1 copy number loss See cases [RCV000054382] Chr17:34899836..36224189 [GRCh37]
Chr17:31973949..33298302 [NCBI36]
Chr17:17q12		 pathogenic
Single allele duplication Autism spectrum disorder [RCV000225391] Chr17:34815551..36249800 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
GRCh37/hg19 17q12(chr17:34815551-36220373)x3 copy number gain Premature ovarian failure [RCV000225163] Chr17:34815551..36220373 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34849849-36151346)x3 copy number gain See cases [RCV000240094] Chr17:34849849..36151346 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.810-17C>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465604]|not specified [RCV000249186] Chr17:37731847 [GRCh38]
Chr17:36091838 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002374415]|Renal cysts and diabetes syndrome [RCV000354402]|not provided [RCV000993280]|not specified [RCV000252224] Chr17:37733682 [GRCh38]
Chr17:36093675 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.1339+17G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464239]|not provided [RCV002527480]|not specified [RCV000517980] Chr17:37704900 [GRCh38]
Chr17:36064907 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.3(HNF1B):c.-178G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464188]|Renal cysts and diabetes syndrome [RCV000268055]|not provided [RCV001582965]|not specified [RCV001820964] Chr17:37745062 [GRCh38]
Chr17:36105053 [GRCh37]
Chr17:17q12		 benign|likely benign|uncertain significance
NM_000458.4(HNF1B):c.*88A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464181]|Renal cysts and diabetes syndrome [RCV000288118] Chr17:37687284 [GRCh38]
Chr17:36047287 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.*274= single nucleotide variant Renal cysts and diabetes syndrome [RCV000291962]|not provided [RCV001725165] Chr17:37687098 [GRCh38]
Chr17:36047101 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.*683G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464176]|Renal cysts and diabetes syndrome [RCV000261500] Chr17:37686689 [GRCh38]
Chr17:36046692 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.*938A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464170]|Renal cysts and diabetes syndrome [RCV000342129] Chr17:37686434 [GRCh38]
Chr17:36046437 [GRCh37]
Chr17:17q12		 benign|likely benign|uncertain significance
NM_000458.4(HNF1B):c.*47T>G single nucleotide variant Monogenic diabetes [RCV000445437]|Renal cysts and diabetes syndrome [RCV000343034]|not provided [RCV001613036] Chr17:37687325 [GRCh38]
Chr17:36047328 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.-31C>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464184]|Renal cysts and diabetes syndrome [RCV000365617]|not specified [RCV000419828] Chr17:37744915 [GRCh38]
Chr17:36104906 [GRCh37]
Chr17:17q12		 benign|likely benign|uncertain significance
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464013]|Renal cysts and diabetes syndrome [RCV000391830]|not provided [RCV001536935]|not specified [RCV001820963] Chr17:37739540 [GRCh38]
Chr17:36099531 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.-36del deletion Maturity onset diabetes mellitus in young [RCV002464185]|Renal cysts and diabetes syndrome [RCV000271049] Chr17:37744920 [GRCh38]
Chr17:36104911 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.721G>A (p.Ala241Thr) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787155]|not provided [RCV000270959] Chr17:37733645 [GRCh38]
Chr17:36093638 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.1663C>A (p.Gln555Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464159]|not provided [RCV000377100] Chr17:37687383 [GRCh38]
Chr17:36047386 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
NM_000458.4(HNF1B):c.*444= single nucleotide variant Renal cysts and diabetes syndrome [RCV000276793] Chr17:37686928 [GRCh38]
Chr17:36046931 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.*445A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464178]|Renal cysts and diabetes syndrome [RCV000371238]|not provided [RCV004694321] Chr17:37686927 [GRCh38]
Chr17:36046930 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.*804T>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464171]|Renal cysts and diabetes syndrome [RCV000307247] Chr17:37686568 [GRCh38]
Chr17:36046571 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.-67C>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464186]|Nonpapillary renal cell carcinoma [RCV003316483]|Renal cysts and diabetes syndrome [RCV000326594] Chr17:37744951 [GRCh38]
Chr17:36104942 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.*924C>G single nucleotide variant Renal cysts and diabetes syndrome [RCV000398593] Chr17:37686448 [GRCh38]
Chr17:37686448..37686449 [GRCh38]
Chr17:36046451 [GRCh37]
Chr17:36046451..36046452 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465609]|Renal cysts and diabetes syndrome [RCV001125734]|not provided [RCV000386201]|not specified [RCV001820823] Chr17:37731615 [GRCh38]
Chr17:36091606 [GRCh37]
Chr17:17q12		 likely benign|uncertain risk allele|uncertain significance
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser) single nucleotide variant Renal cysts and diabetes syndrome [RCV000284726]|Renal cysts and diabetes syndrome [RCV002504095]|not provided [RCV002056574] Chr17:37701043 [GRCh38]
Chr17:36061048 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) single nucleotide variant HNF1B-related disorder [RCV003897736]|Maturity onset diabetes mellitus in young [RCV002464183]|Renal cysts and diabetes syndrome [RCV000329672]|not provided [RCV000593558] Chr17:37744849 [GRCh38]
Chr17:36104840 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.*100= single nucleotide variant Renal cysts and diabetes syndrome [RCV000328277]|not provided [RCV001712110]|not specified [RCV001529221] Chr17:37687272 [GRCh38]
Chr17:36047275 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.1414G>A (p.Val472Ile) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465610]|not provided [RCV000353769] Chr17:37701103 [GRCh38]
Chr17:36061108 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.*403A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464179]|Renal cysts and diabetes syndrome [RCV000331682] Chr17:37686969 [GRCh38]
Chr17:36046972 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.884G>A (p.Arg295His) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787122]|Renal cysts and diabetes syndrome [RCV001535983]|not provided [RCV000713806] Chr17:37731756 [GRCh38]
Chr17:36091747 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.*691A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464175]|Renal cysts and diabetes syndrome [RCV000356378] Chr17:37686681 [GRCh38]
Chr17:36046684 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.*99C>A single nucleotide variant Renal cysts and diabetes syndrome [RCV000382593]|not provided [RCV001712044] Chr17:37687273 [GRCh38]
Chr17:36047276 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.*777G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464173]|Renal cysts and diabetes syndrome [RCV000407279] Chr17:37686595 [GRCh38]
Chr17:36046598 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.406dup (p.Gln136fs) duplication Maturity onset diabetes mellitus in young [RCV002464156]|Renal cysts and diabetes syndrome [RCV000787216]|not provided [RCV000378370] Chr17:37739577..37739578 [GRCh38]
Chr17:36099568..36099569 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.300C>T (p.Thr100=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465608]|not provided [RCV000326763] Chr17:37744585 [GRCh38]
Chr17:36104576 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.*384A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464180]|Renal cysts and diabetes syndrome [RCV000386172] Chr17:37686988 [GRCh38]
Chr17:36046991 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.809+1G>T single nucleotide variant Renal cysts and diabetes syndrome [RCV000787141]|not provided [RCV000265224] Chr17:37733556 [GRCh38]
Chr17:36093549 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.479T>G (p.Met160Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464157]|not provided [RCV000369991] Chr17:37739505 [GRCh38]
Chr17:36099496 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=) single nucleotide variant HNF1B-related disorder [RCV003980094]|Maturity onset diabetes mellitus in young [RCV002465733]|not provided [RCV000597649] Chr17:37701029 [GRCh38]
Chr17:36061034 [GRCh37]
Chr17:17q12		 benign|likely benign|uncertain significance
NM_000458.4(HNF1B):c.657C>G (p.Ser219=) single nucleotide variant HNF1B-related disorder [RCV003900336]|not provided [RCV000597746] Chr17:37733709 [GRCh38]
Chr17:36093702 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) single nucleotide variant HNF1B-related disorder [RCV003945429]|Maturity onset diabetes mellitus in young [RCV002465734]|Renal cysts and diabetes syndrome [RCV001124746]|not provided [RCV000593911] Chr17:37699151 [GRCh38]
Chr17:36059157 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.-82G>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464187]|Renal cysts and diabetes syndrome [RCV000381255] Chr17:37744966 [GRCh38]
Chr17:36104957 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.1654-14CT[4] microsatellite Maturity onset diabetes mellitus in young [RCV002464182]|Renal cysts and diabetes syndrome [RCV000400021]|not provided [RCV001561140] Chr17:37687397..37687398 [GRCh38]
Chr17:36047400..36047401 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.*789T>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464172]|Renal cysts and diabetes syndrome [RCV000364284] Chr17:37686583 [GRCh38]
Chr17:36046586 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.*585T>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464177]|Renal cysts and diabetes syndrome [RCV000316748] Chr17:37686787 [GRCh38]
Chr17:36046790 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.3(HNF1B):c.-232C>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464192]|Renal cysts and diabetes syndrome [RCV000360560] Chr17:37745116 [GRCh38]
Chr17:36105107 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.1418A>G (p.Gln473Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465617]|Renal cysts and diabetes syndrome [RCV000339781] Chr17:37701099 [GRCh38]
Chr17:36061104 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.1207-7C>T single nucleotide variant HNF1B-related disorder [RCV003979925]|Maturity onset diabetes mellitus in young [RCV002464237]|not provided [RCV003698795]|not specified [RCV000518787] Chr17:37705056 [GRCh38]
Chr17:36065063 [GRCh37]
Chr17:17q12		 benign|likely benign|uncertain significance
NM_000458.4(HNF1B):c.*701G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464174]|Renal cysts and diabetes syndrome [RCV000301593] Chr17:37686671 [GRCh38]
Chr17:36046674 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.325G>A (p.Glu109Lys) single nucleotide variant not provided [RCV000591875] Chr17:37744560 [GRCh38]
Chr17:36104551 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.1396C>G (p.Leu466Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465731]|not provided [RCV000592618] Chr17:37701121 [GRCh38]
Chr17:36061126 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.1339+12T>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464238]|not specified [RCV000517060] Chr17:37704905 [GRCh38]
Chr17:36064912 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
GRCh37/hg19 17q12(chr17:34611352-36248918) copy number gain Elevated circulating creatine kinase concentration [RCV000626519] Chr17:34611352..36248918 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1206+42_1206+46del microsatellite Maturity onset diabetes mellitus in young [RCV002464236]|not provided [RCV000517557] Chr17:37710457..37710461 [GRCh38]
Chr17:36070465..36070469 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465732]|not provided [RCV000595948]|not specified [RCV001662642] Chr17:37701128 [GRCh38]
Chr17:36061133 [GRCh37]
Chr17:17q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.723G>A (p.Ala241=) single nucleotide variant HNF1B-related disorder [RCV003935695]|Maturity onset diabetes mellitus in young [RCV002464269]|Renal cysts and diabetes syndrome [RCV002491275]|not provided [RCV003558464]|not specified [RCV000605602] Chr17:37733643 [GRCh38]
Chr17:36093636 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.778G>A (p.Glu260Lys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465758]|not provided [RCV000722709] Chr17:37733588 [GRCh38]
Chr17:36093581 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
NM_000458.4(HNF1B):c.96G>A (p.Glu32=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV003126924]|Renal cysts and diabetes syndrome [RCV001122068]|not provided [RCV000730604] Chr17:37744789 [GRCh38]
Chr17:36104780 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.1561del (p.Gln521fs) deletion not provided [RCV000731011] Chr17:37699168 [GRCh38]
Chr17:36059174 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.1116C>A (p.Ser372Arg) single nucleotide variant not provided [RCV000734332] Chr17:37710593 [GRCh38]
Chr17:36070601 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.430G>A (p.Gly144Ser) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464301]|not provided [RCV000729612] Chr17:37739554 [GRCh38]
Chr17:36099545 [GRCh37]
Chr17:17q12		 likely risk allele|uncertain significance
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002422628]|Renal cysts and diabetes syndrome [RCV001125735]|not provided [RCV000731270] Chr17:37731634 [GRCh38]
Chr17:36091625 [GRCh37]
Chr17:17q12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.819T>C (p.Cys273=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465760]|not provided [RCV000728481] Chr17:37731821 [GRCh38]
Chr17:36091812 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.254A>G (p.Asp85Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465763]|not provided [RCV000730141]|not specified [RCV002249441] Chr17:37744631 [GRCh38]
Chr17:36104622 [GRCh37]
Chr17:17q12		 likely risk allele|uncertain significance
NM_000458.4(HNF1B):c.1085C>T (p.Ser362Phe) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465764]|not provided [RCV000730286] Chr17:37710624 [GRCh38]
Chr17:36070632 [GRCh37]
Chr17:17q12		 likely risk allele|uncertain significance
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002397504]|not provided [RCV000728863] Chr17:37699190 [GRCh38]
Chr17:36059196 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464303]|Renal cysts and diabetes syndrome [RCV002485915]|Renal cysts and diabetes syndrome [RCV004546560]|not provided [RCV000732396] Chr17:37710592 [GRCh38]
Chr17:36070600 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp) single nucleotide variant HNF1B-related disorder [RCV003424324]|Maturity onset diabetes mellitus in young [RCV004027087]|Renal cysts and diabetes syndrome [RCV000787147]|not provided [RCV000734628]|not specified [RCV001288507] Chr17:37733586 [GRCh38]
Chr17:36093579 [GRCh37]
Chr17:17q12		 benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q12(chr17:34815072-36192492)x1 deletion Chromosome 17q12 deletion syndrome [RCV000416291] Chr17:34815072..36192492 [GRCh37]
Chr17:17q12		 pathogenic|uncertain significance
NM_000458.4(HNF1B):c.1591G>C (p.Ala531Pro) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465766]|not provided [RCV000733332] Chr17:37699138 [GRCh38]
Chr17:36059144 [GRCh37]
Chr17:17q12		 likely risk allele|uncertain significance
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys) single nucleotide variant HNF1B-related disorder [RCV003965545]|not provided [RCV000734047]|not specified [RCV001816806] Chr17:37744572 [GRCh38]
Chr17:36104563 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.345-4C>T single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464304]|Renal cysts and diabetes syndrome [RCV001127839]|not provided [RCV000734774] Chr17:37739643 [GRCh38]
Chr17:36099634 [GRCh37]
Chr17:17q12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.1058G>C (p.Ser353Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464305]|not provided [RCV000734793] Chr17:37710651 [GRCh38]
Chr17:36070659 [GRCh37]
Chr17:17q12		 likely risk allele|uncertain significance
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) single nucleotide variant HNF1B-related disorder [RCV003928222]|Maturity onset diabetes mellitus in young [RCV002465762]|Renal cysts and diabetes syndrome [RCV002468028]|not provided [RCV000729657] Chr17:37699135 [GRCh38]
Chr17:36059141 [GRCh37]
Chr17:17q12		 likely risk allele|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.364G>A (p.Ala122Thr) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464302]|not provided [RCV000731660] Chr17:37739620 [GRCh38]
Chr17:36099611 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
NM_000458.4(HNF1B):c.473C>T (p.Thr158Ile) single nucleotide variant not provided [RCV000730762] Chr17:37739511 [GRCh38]
Chr17:36099502 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787056]|not provided [RCV000730771] Chr17:37699149 [GRCh38]
Chr17:36059155 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.339G>A (p.Met113Ile) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465765]|not provided [RCV000732964] Chr17:37744546 [GRCh38]
Chr17:36104537 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002348127]|Renal cysts and diabetes syndrome [RCV000787179]|not provided [RCV000413356] Chr17:37739443 [GRCh38]
Chr17:36099434 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1057A>G (p.Ser353Gly) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465759]|not provided [RCV000728097] Chr17:37710652 [GRCh38]
Chr17:36070660 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
GRCh37/hg19 17q12(chr17:34822465-36307773)x3 copy number gain See cases [RCV000449357] Chr17:34822465..36307773 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36351919)x3 copy number gain See cases [RCV000449434] Chr17:34822465..36351919 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815551-36208392)x1 copy number loss VATER association [RCV000522672] Chr17:34815551..36208392 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34849849-36151287)x3 copy number gain See cases [RCV000446641] Chr17:34849849..36151287 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:36045719-36067413)x3 copy number gain See cases [RCV000447505] Chr17:36045719..36067413 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34822465-36283612)x1 copy number loss See cases [RCV000447417] Chr17:34822465..36283612 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.983C>T (p.Pro328Leu) single nucleotide variant not provided [RCV003766318]|not specified [RCV000437757] Chr17:37731657 [GRCh38]
Chr17:36091648 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.1006C>A (p.His336Asn) single nucleotide variant not provided [RCV000421527] Chr17:37731634 [GRCh38]
Chr17:36091625 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser) single nucleotide variant HNF1B-related disorder [RCV003922733]|Maturity onset diabetes mellitus in young [RCV002450971]|Renal cysts and diabetes syndrome [RCV000787092]|Renal cysts and diabetes syndrome [RCV002467781]|not provided [RCV000429473]|not specified [RCV002282139] Chr17:37710601 [GRCh38]
Chr17:36070609 [GRCh37]
Chr17:17q12		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.1561C>T (p.Gln521Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464197]|Renal cysts and diabetes syndrome [RCV000787057]|not provided [RCV000429830] Chr17:37699168 [GRCh38]
Chr17:36059174 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844831]|Maturity onset diabetes mellitus in young [RCV004022349]|Monogenic diabetes [RCV000664148]|Renal cysts and diabetes syndrome [RCV001127842]|not provided [RCV002062432]|not specified [RCV000440404] Chr17:37744703 [GRCh38]
Chr17:36104694 [GRCh37]
Chr17:17q12		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.948C>T (p.Asp316=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465650]|not provided [RCV002521524]|not specified [RCV000441061] Chr17:37731692 [GRCh38]
Chr17:36091683 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.1132dup (p.Gln378fs) duplication Renal cysts and diabetes syndrome [RCV000416588] Chr17:37710576..37710577 [GRCh38]
Chr17:36070584..36070585 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss See cases [RCV000448533] Chr17:34822465..36283807 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34425362-36410559)x3 copy number gain See cases [RCV000447719] Chr17:34425362..36410559 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244358)x3 copy number gain See cases [RCV000512116] Chr17:34822465..36244358 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787150]|not provided [RCV000479017] Chr17:37733611 [GRCh38]
Chr17:36093604 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822465-36300630)x1 copy number loss See cases [RCV000510401] Chr17:34822465..36300630 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36244358)x1 copy number loss See cases [RCV000510257] Chr17:34822466..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34437482-36404555)x3 copy number gain See cases [RCV000510217] Chr17:34437482..36404555 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822465-36316161)x1 copy number loss See cases [RCV000510588] Chr17:34822465..36316161 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.*37G>A single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464229]|Type 2 diabetes mellitus [RCV000505626] Chr17:37687335 [GRCh38]
Chr17:36047338 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
GRCh37/hg19 17q12(chr17:34822467-36307773)x1 copy number loss See cases [RCV000511448] Chr17:34822467..36307773 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34437482-36350584)x3 copy number gain See cases [RCV000511415] Chr17:34437482..36350584 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36410559)x3 copy number gain See cases [RCV000511856] Chr17:34822465..36410559 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36300466)x1 copy number loss See cases [RCV000511202] Chr17:34822466..36300466 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36397323)x1 copy number loss See cases [RCV000511069] Chr17:34822465..36397323 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36225988)x3 copy number gain See cases [RCV000511229] Chr17:34822465..36225988 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36404136)x1 copy number loss See cases [RCV000511092] Chr17:34822466..36404136 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36351934)x1 copy number loss See cases [RCV000510732] Chr17:34822466..36351934 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34447113-36283612)x1 copy number loss See cases [RCV000510761] Chr17:34447113..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34475679-36283612)x1 copy number loss See cases [RCV000510867] Chr17:34475679..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244358)x1 copy number loss See cases [RCV000511282] Chr17:34822465..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36316144)x1 copy number loss See cases [RCV000510825] Chr17:34822465..36316144 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002368072]|Renal cysts and diabetes syndrome [RCV001125737]|Renal cysts and diabetes syndrome [RCV002483690]|not provided [RCV000713804]|not specified [RCV000601597] Chr17:37733709 [GRCh38]
Chr17:36093702 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr) single nucleotide variant HNF1B-related disorder [RCV003403395]|Maturity onset diabetes mellitus in young [RCV004619349]|Renal cysts and diabetes syndrome [RCV000787052]|Renal cysts and diabetes syndrome [RCV002497268]|not provided [RCV000594491] Chr17:37687389 [GRCh38]
Chr17:36047392 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.230_233del (p.Asp77fs) deletion Hyperuricemic nephropathy, familial juvenile type 3 [RCV000515142]|Maturity onset diabetes mellitus in young [RCV002465696]|Renal cysts and diabetes syndrome [RCV000787243] Chr17:37744652..37744655 [GRCh38]
Chr17:36104643..36104646 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815551-36244358)x1 copy number loss See cases [RCV000515600] Chr17:34815551..36244358 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1008C>T (p.His336=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465736]|not provided [RCV000595024] Chr17:37731632 [GRCh38]
Chr17:36091623 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer) deletion Maturity onset diabetes mellitus in young [RCV002465738]|Renal cysts and diabetes syndrome [RCV000625564] Chr17:37744764 [GRCh38]
Chr17:36104755 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NC_000017.10:g.(?_36046433)_(36105070_?)del deletion Maturity onset diabetes mellitus in young [RCV003317747] Chr17:36046433..36105070 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36307773)x1 copy number loss See cases [RCV000512367] Chr17:34822465..36307773 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36283807)x1 copy number loss See cases [RCV000512433] Chr17:34822466..36283807 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.402C>T (p.Ile134=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464263]|not provided [RCV000597016] Chr17:37739582 [GRCh38]
Chr17:36099573 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=) single nucleotide variant HNF1B-related disorder [RCV003409864]|Maturity onset diabetes mellitus in young [RCV002464264]|not provided [RCV000597229] Chr17:37687378 [GRCh38]
Chr17:36047381 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.420C>T (p.Val140=) single nucleotide variant HNF1B-related disorder [RCV003980119]|Maturity onset diabetes mellitus in young [RCV002464266]|not provided [RCV000597529] Chr17:37739564 [GRCh38]
Chr17:36099555 [GRCh37]
Chr17:17q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs) duplication Renal cysts and diabetes syndrome [RCV000787168]|not provided [RCV000713803] Chr17:37733730..37733731 [GRCh38]
Chr17:36093723..36093724 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.262A>G (p.Thr88Ala) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465750]|Monogenic diabetes [RCV000664147] Chr17:37744623 [GRCh38]
Chr17:36104614 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464283]|Renal cysts and diabetes syndrome [RCV002493068]|not provided [RCV000658054] Chr17:37733774 [GRCh38]
Chr17:36093767 [GRCh37]
Chr17:17q12		 uncertain risk allele|uncertain significance
NM_000458.4(HNF1B):c.473C>A (p.Thr158Asn) single nucleotide variant Renal cysts and diabetes syndrome [RCV003313973]|not provided [RCV000713801] Chr17:37739511 [GRCh38]
Chr17:36099502 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34425362-36283612)x3 copy number gain not provided [RCV000683920] Chr17:34425362..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34426244-36225988)x3 copy number gain not provided [RCV000683921] Chr17:34426244..36225988 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34475679-36311009)x1 copy number loss not provided [RCV000683922] Chr17:34475679..36311009 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34477385-36404555)x1 copy number loss not provided [RCV000683923] Chr17:34477385..36404555 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244332)x3 copy number gain not provided [RCV000683924] Chr17:34822465..36244332 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244358)x1 copy number loss not provided [RCV000683925] Chr17:34822465..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss not provided [RCV000683927] Chr17:34822465..36283807 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36316161)x3 copy number gain not provided [RCV000683929] Chr17:34822465..36316161 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36351919)x3 copy number gain not provided [RCV000683930] Chr17:34822465..36351919 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36371146)x3 copy number gain not provided [RCV000683931] Chr17:34822465..36371146 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283612)x3 copy number gain not provided [RCV000683926] Chr17:34822465..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36404136)x1 copy number loss not provided [RCV000683932] Chr17:34822465..36404136 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787129]|not provided [RCV000681856] Chr17:37731787 [GRCh38]
Chr17:36091778 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822465-36307773)x1 copy number loss not provided [RCV000683928] Chr17:34822465..36307773 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer) deletion Renal cysts and diabetes syndrome [RCV000787144]|not provided [RCV000713805] Chr17:37733577 [GRCh38]
Chr17:36093570 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787211]|not provided [RCV000713800] Chr17:37739545 [GRCh38]
Chr17:36099536 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002343589]|Renal cysts and diabetes syndrome [RCV001281137]|Renal cysts and diabetes syndrome [RCV002499296]|Type 2 diabetes mellitus [RCV003227842]|not provided [RCV000713802] Chr17:37739440 [GRCh38]
Chr17:36099431 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.11:g.(?_36357256)_(37995300_?)del deletion Schizophrenia [RCV000754204] Chr17:36357256..37995300 [GRCh38]
Chr17:17q12		 pathogenic
NC_000017.11:g.(?_36143765)_(37995300_?)del deletion Autism [RCV000754203] Chr17:36143765..37995300 [GRCh38]
Chr17:17q12		 pathogenic
Single allele duplication Autism [RCV000754205] Chr17:36357256..37995300 [GRCh38]
Chr17:17q12		 likely pathogenic
NC_000017.11:g.(?_36446252)_(37887875_?)del deletion Autism [RCV000754206] Chr17:36446252..37887875 [GRCh38]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1046-279G>A single nucleotide variant not provided [RCV001645780] Chr17:37710942 [GRCh38]
Chr17:36070950 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.1207-54G>A single nucleotide variant not provided [RCV001584958] Chr17:37705103 [GRCh38]
Chr17:36065110 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.1535-102A>G single nucleotide variant not provided [RCV001648639] Chr17:37699296 [GRCh38]
Chr17:36059302 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.1339+27T>C single nucleotide variant not provided [RCV001693301] Chr17:37704890 [GRCh38]
Chr17:36064897 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.100C>T (p.Leu34=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV001249062]|not provided [RCV000761950] Chr17:37744785 [GRCh38]
Chr17:36104776 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787187]|not provided [RCV000760403] Chr17:37739471 [GRCh38]
Chr17:36099462 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34812294-36272082)x3 copy number gain not provided [RCV000752026] Chr17:34812294..36272082 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34813067-36223325)x3 copy number gain not provided [RCV000752027] Chr17:34813067..36223325 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34815551-36244358)x1 copy number loss not provided [RCV000752028] Chr17:34815551..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815551-36307189)x1 copy number loss not provided [RCV000752029] Chr17:34815551..36307189 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1504G>A (p.Ala502Thr) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787062] Chr17:37701013 [GRCh38]
Chr17:36061018 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs) duplication Maturity onset diabetes mellitus in young [RCV002465772]|Renal cysts and diabetes syndrome [RCV000787066] Chr17:37701103..37701104 [GRCh38]
Chr17:36061108..36061109 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.1136C>A (p.Ser379Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787090] Chr17:37710573 [GRCh38]
Chr17:36070581 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.982_986del (p.Pro328fs) deletion Renal cysts and diabetes syndrome [RCV000787107] Chr17:37731654..37731658 [GRCh38]
Chr17:36091645..36091649 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.513G>C (p.Trp171Cys) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787186] Chr17:37739471 [GRCh38]
Chr17:36099462 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.466A>G (p.Lys156Glu) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787204] Chr17:37739518 [GRCh38]
Chr17:36099509 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.457C>A (p.His153Asn) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787206] Chr17:37739527 [GRCh38]
Chr17:36099518 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.372G>T (p.Met124Ile) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787222] Chr17:37739612 [GRCh38]
Chr17:36099603 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.1253A>C (p.Asn418Thr) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787079] Chr17:37705003 [GRCh38]
Chr17:36065010 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001254704]|Renal cysts and diabetes syndrome [RCV000787100]|not specified [RCV003994116] Chr17:37731616 [GRCh38]
Chr17:36091607 [GRCh37]
Chr17:17q12		 likely pathogenic|uncertain significance
NM_000458.4(HNF1B):c.886G>T (p.Val296Phe) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787120] Chr17:37731754 [GRCh38]
Chr17:36091745 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys) single nucleotide variant Maturity onset diabetes mellitus in young [RCV004629323]|Renal cysts and diabetes syndrome [RCV000787123]|not provided [RCV003106061] Chr17:37731757 [GRCh38]
Chr17:36091748 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.869T>A (p.Leu290Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787124] Chr17:37731771 [GRCh38]
Chr17:36091762 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.854G>A (p.Gly285Asp) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787128]|not provided [RCV003480814] Chr17:37731786 [GRCh38]
Chr17:36091777 [GRCh37]
Chr17:17q12		 pathogenic|uncertain significance
NM_000458.4(HNF1B):c.737T>C (p.Leu246Ser) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787152] Chr17:37733629 [GRCh38]
Chr17:36093622 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787163]|not provided [RCV001775999] Chr17:37733662 [GRCh38]
Chr17:36093655 [GRCh37]
Chr17:17q12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.499G>A (p.Ala167Thr) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787191] Chr17:37739485 [GRCh38]
Chr17:36099476 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.460C>T (p.Leu154Phe) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787205] Chr17:37739524 [GRCh38]
Chr17:36099515 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.452C>G (p.Ser151Cys) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787207] Chr17:37739532 [GRCh38]
Chr17:36099523 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.395A>C (p.His132Pro) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787218] Chr17:37739589 [GRCh38]
Chr17:36099580 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.391C>T (p.Gln131Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787220] Chr17:37739593 [GRCh38]
Chr17:36099584 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.335G>C (p.Arg112Pro) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787232] Chr17:37744550 [GRCh38]
Chr17:36104541 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.329T>G (p.Val110Gly) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787233] Chr17:37744556 [GRCh38]
Chr17:36104547 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.130G>A (p.Glu44Lys) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787253] Chr17:37744755 [GRCh38]
Chr17:36104746 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34819191-36104803) copy number gain Chromosome 17q12 duplication syndrome [RCV000767659] Chr17:34819191..36104803 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1045+330G>C single nucleotide variant not provided [RCV000826375] Chr17:37731265 [GRCh38]
Chr17:36091256 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.1640C>T (p.Ser547Phe) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787054] Chr17:37699089 [GRCh38]
Chr17:36059095 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.1610C>A (p.Thr537Asn) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787055]|not provided [RCV003130034] Chr17:37699119 [GRCh38]
Chr17:36059125 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.1429C>T (p.Gln477Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787065] Chr17:37701088 [GRCh38]
Chr17:36061093 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1310C>T (p.Pro437Leu) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787075] Chr17:37704946 [GRCh38]
Chr17:36064953 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.1253A>T (p.Asn418Ile) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787078] Chr17:37705003 [GRCh38]
Chr17:36065010 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.1118_1147del (p.Ala373_Gln383delinsGlu) deletion Renal cysts and diabetes syndrome [RCV000787087] Chr17:37710562..37710591 [GRCh38]
Chr17:36070570..36070599 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1144C>T (p.Gln382Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787088] Chr17:37710565 [GRCh38]
Chr17:36070573 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs) deletion Renal cysts and diabetes syndrome [RCV000787093]|not provided [RCV001873208] Chr17:37710610..37710613 [GRCh38]
Chr17:36070618..36070621 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1055A>G (p.Tyr352Cys) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787094] Chr17:37710654 [GRCh38]
Chr17:36070662 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.940G>A (p.Ala314Thr) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787115] Chr17:37731700 [GRCh38]
Chr17:36091691 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.906C>A (p.Asn302Lys) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787117] Chr17:37731734 [GRCh38]
Chr17:36091725 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro) single nucleotide variant Renal cysts and diabetes syndrome [RCV000991307]|not provided [RCV003156290] Chr17:37731756 [GRCh38]
Chr17:36091747 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.860G>T (p.Gly287Val) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787126] Chr17:37731780 [GRCh38]
Chr17:36091771 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly) single nucleotide variant HNF1B-related disorder [RCV003411728]|Renal cysts and diabetes syndrome [RCV000787133] Chr17:37731814 [GRCh38]
Chr17:36091805 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.823C>T (p.Gln275Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787136] Chr17:37731817 [GRCh38]
Chr17:36091808 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.818G>C (p.Cys273Ser) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787137] Chr17:37731822 [GRCh38]
Chr17:36091813 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.818G>A (p.Cys273Tyr) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787138] Chr17:37731822 [GRCh38]
Chr17:36091813 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.791T>C (p.Leu264Ser) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787143] Chr17:37733575 [GRCh38]
Chr17:36093568 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.786_787dup (p.Ala263fs) duplication Renal cysts and diabetes syndrome [RCV000787145] Chr17:37733578..37733579 [GRCh38]
Chr17:36093571..36093572 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.742C>T (p.Gln248Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787151] Chr17:37733624 [GRCh38]
Chr17:36093617 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.728A>C (p.Gln243Pro) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787153] Chr17:37733638 [GRCh38]
Chr17:36093631 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.719_720dup (p.Ala241fs) duplication Maturity onset diabetes mellitus in young [RCV002464317]|Renal cysts and diabetes syndrome [RCV000787156] Chr17:37733645..37733646 [GRCh38]
Chr17:36093638..36093639 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.716G>A (p.Gly239Glu) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787159] Chr17:37733650 [GRCh38]
Chr17:36093643 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.698G>A (p.Arg233His) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787165] Chr17:37733668 [GRCh38]
Chr17:36093661 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.589A>C (p.Ser197Arg) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787169] Chr17:37733777 [GRCh38]
Chr17:36093770 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.522_525del (p.Arg174fs) deletion Renal cysts and diabetes syndrome [RCV000787183] Chr17:37739459..37739462 [GRCh38]
Chr17:36099450..36099453 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.517G>C (p.Val173Leu) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787184] Chr17:37739467 [GRCh38]
Chr17:36099458 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.505T>C (p.Tyr169His) single nucleotide variant Renal cysts and diabetes syndrome [RCV001281136] Chr17:37739479 [GRCh38]
Chr17:36099470 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.499_504delinsCCCCT (p.Ala167fs) indel Maturity onset diabetes mellitus in young [RCV002464318]|Renal cysts and diabetes syndrome [RCV000787190] Chr17:37739480..37739485 [GRCh38]
Chr17:36099471..36099476 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys) single nucleotide variant HNF1B-related disorder [RCV003411729]|Renal cysts and diabetes syndrome [RCV000787194]|not provided [RCV003884729] Chr17:37739491 [GRCh38]
Chr17:36099482 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.478A>G (p.Met160Val) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787199]|not provided [RCV001869186] Chr17:37739506 [GRCh38]
Chr17:36099497 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.476C>T (p.Pro159Leu) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787202] Chr17:37739508 [GRCh38]
Chr17:36099499 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.472_473insTGCAGCCC (p.Thr158fs) insertion Renal cysts and diabetes syndrome [RCV000787203] Chr17:37739511..37739512 [GRCh38]
Chr17:36099502..36099503 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.451T>C (p.Ser151Pro) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787208] Chr17:37739533 [GRCh38]
Chr17:36099524 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.406C>T (p.Gln136Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787214]|not provided [RCV002535750] Chr17:37739578 [GRCh38]
Chr17:36099569 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.406C>G (p.Gln136Glu) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787215] Chr17:37739578 [GRCh38]
Chr17:36099569 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.335_342del (p.Arg112fs) deletion Renal cysts and diabetes syndrome [RCV000787230] Chr17:37744543..37744550 [GRCh38]
Chr17:36104534..36104541 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.274C>T (p.Leu92Phe) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787236] Chr17:37744611 [GRCh38]
Chr17:36104602 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.248G>A (p.Gly83Asp) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787240] Chr17:37744637 [GRCh38]
Chr17:36104628 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.234G>C (p.Glu78Asp) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787242] Chr17:37744651 [GRCh38]
Chr17:36104642 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787244]|Renal cysts and diabetes syndrome [RCV002501025]|Type 2 diabetes mellitus [RCV001029833] Chr17:37744653 [GRCh38]
Chr17:36104644 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe) single nucleotide variant Maturity onset diabetes mellitus in young [RCV001248883]|Renal cysts and diabetes syndrome [RCV000787256]|Renal cysts and diabetes syndrome [RCV002487621]|not provided [RCV002535751] Chr17:37744778 [GRCh38]
Chr17:36104769 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000458.4(HNF1B):c.458A>G (p.His153Arg) single nucleotide variant Hyperuricemic nephropathy, familial juvenile type 3 [RCV000787937]|Maturity onset diabetes mellitus in young [RCV002464321]|not provided [RCV001856215] Chr17:37739526 [GRCh38]
Chr17:36099517 [GRCh37]
Chr17:17q12		 likely pathogenic|likely risk allele|uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787391] Chr17:34815172..36249799 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34437475-36214026) copy number gain Chromosome 17q12 duplication syndrome [RCV000767740] Chr17:34437475..36214026 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1299del (p.Ile434fs) deletion Renal cysts and diabetes syndrome [RCV000787077] Chr17:37704957 [GRCh38]
Chr17:36064964 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1138del (p.Val380fs) deletion Renal cysts and diabetes syndrome [RCV000787089] Chr17:37710571 [GRCh38]
Chr17:36070579 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1006dup (p.His336fs) duplication Maturity onset diabetes mellitus in young [RCV002465774]|Renal cysts and diabetes syndrome [RCV000787106] Chr17:37731633..37731634 [GRCh38]
Chr17:36091624..36091625 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.967dup (p.Thr323fs) duplication Renal cysts and diabetes syndrome [RCV000787110] Chr17:37731672..37731673 [GRCh38]
Chr17:36091663..36091664 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.850del (p.His284fs) deletion Renal cysts and diabetes syndrome [RCV000787130] Chr17:37731790 [GRCh38]
Chr17:36091781 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.717dup (p.Pro240fs) duplication Renal cysts and diabetes syndrome [RCV000787158]|Type 2 diabetes mellitus [RCV003884728] Chr17:37733648..37733649 [GRCh38]
Chr17:36093641..36093642 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.544+3_544+4insT insertion Renal cysts and diabetes syndrome [RCV000787171] Chr17:37739436..37739437 [GRCh38]
Chr17:36099427..36099428 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.544+1G>C single nucleotide variant Hyperechogenic kidneys [RCV003106063]|Renal cysts and diabetes syndrome [RCV000787176] Chr17:37739439 [GRCh38]
Chr17:36099430 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.471del (p.Thr158fs) deletion Renal cysts and diabetes syndrome [RCV000787200] Chr17:37739513 [GRCh38]
Chr17:36099504 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.345-1G>A single nucleotide variant Renal cysts and diabetes syndrome [RCV000787226] Chr17:37739640 [GRCh38]
Chr17:36099631 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.3:c.1_1045del deletion Renal cysts and diabetes syndrome [RCV000787267] Chr17:17q12 pathogenic
GRCh37/hg19 17q12(chr17:34819191-36194230) copy number loss Chromosome 17q12 deletion syndrome [RCV000767697] Chr17:34819191..36194230 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1484T>A (p.Met495Lys) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787063]|not specified [RCV001816836] Chr17:37701033 [GRCh38]
Chr17:36061038 [GRCh37]
Chr17:17q12		 likely pathogenic|uncertain significance
NM_000458.4(HNF1B):c.1408C>T (p.Gln470Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787067] Chr17:37701109 [GRCh38]
Chr17:36061114 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1360C>T (p.Gln454Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787071] Chr17:37701157 [GRCh38]
Chr17:36061162 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.931C>T (p.Gln311Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787116] Chr17:37731709 [GRCh38]
Chr17:36091700 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787148]|not provided [RCV000993282] Chr17:37733600 [GRCh38]
Chr17:36093593 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.758A>C (p.Gln253Pro) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787149] Chr17:37733608 [GRCh38]
Chr17:36093601 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.715G>C (p.Gly239Arg) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787160] Chr17:37733651 [GRCh38]
Chr17:36093644 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.708C>T (p.Phe236=) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787162] Chr17:37733658 [GRCh38]
Chr17:36093651 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.494G>C (p.Arg165Pro) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787192] Chr17:37739490 [GRCh38]
Chr17:36099481 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.436A>G (p.Asn146Asp) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787212] Chr17:37739548 [GRCh38]
Chr17:36099539 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.398A>G (p.Asn133Ser) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787217] Chr17:37739586 [GRCh38]
Chr17:36099577 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.374T>C (p.Ile125Thr) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787221] Chr17:37739610 [GRCh38]
Chr17:36099601 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.356G>A (p.Trp119Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787223] Chr17:37739628 [GRCh38]
Chr17:36099619 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.207_211del (p.His69fs) deletion Renal cysts and diabetes syndrome [RCV000787248] Chr17:37744674..37744678 [GRCh38]
Chr17:36104665..36104669 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe) single nucleotide variant HNF1B-related disorder [RCV003413581]|Maturity onset diabetes mellitus in young [RCV004629324]|Renal cysts and diabetes syndrome [RCV000787259]|not provided [RCV002259370] Chr17:37744851 [GRCh38]
Chr17:36104842 [GRCh37]
Chr17:17q12		 likely pathogenic|uncertain significance
NM_000458.4(HNF1B):c.3G>A (p.Met1Ile) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787262] Chr17:37744882 [GRCh38]
Chr17:36104873 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.3:c.545_1045del deletion Renal cysts and diabetes syndrome [RCV000787265] Chr17:17q12 pathogenic
GRCh37/hg19 17q12(chr17:34848678-36194230) copy number gain Chromosome 17q12 duplication syndrome [RCV000767620] Chr17:34848678..36194230 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34842059-36214026) copy number gain Chromosome 17q12 duplication syndrome [RCV000767688] Chr17:34842059..36214026 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.809+109A>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465801]|not provided [RCV000838002] Chr17:37733448 [GRCh38]
Chr17:36093441 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.738G>T (p.Leu246Phe) single nucleotide variant not provided [RCV000993281] Chr17:37733628 [GRCh38]
Chr17:36093621 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.1535-46T>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465794]|not provided [RCV000833676] Chr17:37699240 [GRCh38]
Chr17:36059246 [GRCh37]
Chr17:17q12		 benign
NM_000458.3:c.1046_*941del deletion Renal cysts and diabetes syndrome [RCV000787266] Chr17:17q12 pathogenic
NM_000458.4(HNF1B):c.1360_1361del (p.Gln454fs) microsatellite Renal cysts and diabetes syndrome [RCV000787070] Chr17:37701156..37701157 [GRCh38]
Chr17:36061161..36061162 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1046-2A>G single nucleotide variant Renal cysts and diabetes syndrome [RCV000787098] Chr17:37710665 [GRCh38]
Chr17:36070673 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.809+1G>A single nucleotide variant Renal cysts and diabetes syndrome [RCV000787142]|Renal cysts and diabetes syndrome [RCV002487620]|not provided [RCV003546602] Chr17:37733556 [GRCh38]
Chr17:36093549 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.544+2dup duplication Renal cysts and diabetes syndrome [RCV000787173] Chr17:37739437..37739438 [GRCh38]
Chr17:36099428..36099429 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.484del (p.Thr162fs) deletion Renal cysts and diabetes syndrome [RCV000787197] Chr17:37739500 [GRCh38]
Chr17:36099491 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.353del (p.Pro118fs) deletion Renal cysts and diabetes syndrome [RCV000787224] Chr17:37739631 [GRCh38]
Chr17:36099622 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.18del (p.Ser7fs) deletion Renal cysts and diabetes syndrome [RCV000787260] Chr17:37744867 [GRCh38]
Chr17:36104858 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.852C>T (p.His284=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465818]|not provided [RCV000993283] Chr17:37731788 [GRCh38]
Chr17:36091779 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.1007A>G (p.His336Arg) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787102] Chr17:37731633 [GRCh38]
Chr17:36091624 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.856C>G (p.Leu286Val) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787127] Chr17:37731784 [GRCh38]
Chr17:36091775 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787134]|not provided [RCV002535749] Chr17:37731813 [GRCh38]
Chr17:36091804 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.781A>G (p.Arg261Gly) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787146]|not provided [RCV002508256] Chr17:37733585 [GRCh38]
Chr17:36093578 [GRCh37]
Chr17:17q12		 likely pathogenic|uncertain significance
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val) single nucleotide variant Maturity onset diabetes mellitus in young [RCV001248889]|Renal cysts and diabetes syndrome [RCV000787167]|not provided [RCV001869184] Chr17:37733704 [GRCh38]
Chr17:36093697 [GRCh37]
Chr17:17q12		 benign|uncertain significance
NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787182] Chr17:37739458 [GRCh38]
Chr17:36099449 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile) single nucleotide variant Maturity onset diabetes mellitus in young [RCV001248885]|Renal cysts and diabetes syndrome [RCV001125738] Chr17:37739467 [GRCh38]
Chr17:36099458 [GRCh37]
Chr17:17q12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000458.4(HNF1B):c.324_340del (p.Glu109fs) deletion Maturity onset diabetes mellitus in young [RCV002465776]|Renal cysts and diabetes syndrome [RCV000787231] Chr17:37744545..37744561 [GRCh38]
Chr17:36104536..36104552 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.281_284dup (p.Gln96fs) duplication Renal cysts and diabetes syndrome [RCV000787237] Chr17:37744600..37744601 [GRCh38]
Chr17:36104591..36104592 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.3G>T (p.Met1Ile) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787261] Chr17:37744882 [GRCh38]
Chr17:36104873 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1517del (p.Gln506fs) deletion Renal cysts and diabetes syndrome [RCV000787061] Chr17:37701000 [GRCh38]
Chr17:36061005 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.1302del (p.Ile434_Met435insTer) deletion Renal cysts and diabetes syndrome [RCV000787076] Chr17:37704954 [GRCh38]
Chr17:36064961 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.949del (p.Ala317fs) deletion Renal cysts and diabetes syndrome [RCV000787113] Chr17:37731691 [GRCh38]
Chr17:36091682 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.840dup (p.Ser281fs) duplication Maturity onset diabetes mellitus in young [RCV002465775]|Renal cysts and diabetes syndrome [RCV000787132] Chr17:37731799..37731800 [GRCh38]
Chr17:36091790..36091791 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.727del (p.Gln243fs) deletion Renal cysts and diabetes syndrome [RCV000787154] Chr17:37733639 [GRCh38]
Chr17:36093632 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.717del (p.Ala241fs) deletion Renal cysts and diabetes syndrome [RCV000787157] Chr17:37733649 [GRCh38]
Chr17:36093642 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.3:c.1046_1674del deletion Renal cysts and diabetes syndrome [RCV000787264] Chr17:17q12 pathogenic
NM_000458.4(HNF1B):c.1561dup (p.Gln521fs) duplication Renal cysts and diabetes syndrome [RCV000787058] Chr17:37699167..37699168 [GRCh38]
Chr17:36059173..36059174 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.3(HNF1B):c.1046del deletion Renal cysts and diabetes syndrome [RCV000787097] Chr17:37710663 [GRCh38]
Chr17:36070671 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.811_1045+1del deletion Renal cysts and diabetes syndrome [RCV000787099] Chr17:37731594..37731829 [GRCh38]
Chr17:36091585..36091820 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.983del (p.Pro328fs) deletion Renal cysts and diabetes syndrome [RCV000787108] Chr17:37731657 [GRCh38]
Chr17:36091648 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.953dup (p.Tyr318Ter) duplication Renal cysts and diabetes syndrome [RCV000787112] Chr17:37731686..37731687 [GRCh38]
Chr17:36091677..36091678 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.810-2A>C single nucleotide variant Renal cysts and diabetes syndrome [RCV000787139] Chr17:37731832 [GRCh38]
Chr17:36091823 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.810-4C>G single nucleotide variant Renal cysts and diabetes syndrome [RCV000787140] Chr17:37731834 [GRCh38]
Chr17:36091825 [GRCh37]
Chr17:17q12		 likely benign
NM_000458.4(HNF1B):c.487del (p.Gln163fs) deletion Renal cysts and diabetes syndrome [RCV000787196] Chr17:37739497 [GRCh38]
Chr17:36099488 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.70del (p.Glu24fs) deletion Renal cysts and diabetes syndrome [RCV000787257] Chr17:37744815 [GRCh38]
Chr17:36104806 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.3:c.1046_*941del deletion Renal cysts and diabetes syndrome [RCV000787266] Chr17:17q12 pathogenic
NM_000458.4(HNF1B):c.1534+252G>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465792]|not provided [RCV000831955] Chr17:37700731 [GRCh38]
Chr17:36060736 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.344+228G>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465800]|not provided [RCV000836402] Chr17:37744313 [GRCh38]
Chr17:36104304 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.345-228C>G single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464337]|not provided [RCV000836403] Chr17:37739867 [GRCh38]
Chr17:36099858 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.344+256G>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002464332]|not provided [RCV000832707] Chr17:37744285 [GRCh38]
Chr17:36104276 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000458.4(HNF1B):c.699C>T (p.Arg233=) single nucleotide variant HNF1B-related disorder [RCV003983214]|Maturity onset diabetes mellitus in young [RCV002464331]|not provided [RCV000827597] Chr17:37733667 [GRCh38]
Chr17:36093660 [GRCh37]
Chr17:17q12		 likely benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
NM_000458.4(HNF1B):c.1540G>A (p.Ala514Thr) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787059] Chr17:37699189 [GRCh38]
Chr17:36059195 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.1538A>G (p.Tyr513Cys) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787060] Chr17:37699191 [GRCh38]
Chr17:36059197 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.1351T>A (p.Ser451Thr) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787072] Chr17:37701166 [GRCh38]
Chr17:36061171 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.1119_1147del (p.Met374fs) deletion Maturity onset diabetes mellitus in young [RCV002464316]|Renal cysts and diabetes syndrome [RCV000787086] Chr17:37710562..37710590 [GRCh38]
Chr17:36070570..36070598 [GRCh37]
Chr17:17q12		 pathogenic|likely risk allele
NM_000458.4(HNF1B):c.904A>G (p.Asn302Asp) single nucleotide variant HNF1B-related disorder [RCV003396364]|Renal cysts and diabetes syndrome [RCV000787118] Chr17:37731736 [GRCh38]
Chr17:36091727 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.895T>G (p.Trp299Gly) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787119] Chr17:37731745 [GRCh38]
Chr17:36091736 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp) single nucleotide variant Hyperechogenic kidneys [RCV003106062]|Renal cysts and diabetes syndrome [RCV000787125]|Renal cysts and diabetes syndrome [RCV002493434] Chr17:37731775 [GRCh38]
Chr17:36091766 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.712T>C (p.Trp238Arg) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787161] Chr17:37733654 [GRCh38]
Chr17:36093647 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787174]|not provided [RCV001869185] Chr17:37739442 [GRCh38]
Chr17:36099433 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000458.4(HNF1B):c.490A>C (p.Lys164Gln) single nucleotide variant Renal cysts and diabetes syndrome [RCV001281301] Chr17:37739494 [GRCh38]
Chr17:36099485 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001328307]|Renal cysts and diabetes syndrome [RCV001281300]|Renal cysts and diabetes syndrome [RCV002501024]|not provided [RCV001785725] Chr17:37739541 [GRCh38]
Chr17:36099532 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000458.4(HNF1B):c.434T>A (p.Leu145Gln) single nucleotide variant Renal cysts and diabetes syndrome [RCV000787213] Chr17:37739550 [GRCh38]
Chr17:36099541 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000458.4(HNF1B):c.386_392del (p.Met129fs) deletion Renal cysts and diabetes syndrome [RCV000787219] Chr17:37739592..37739598 [GRCh38]
Chr17:36099583..36099589 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.211_217del (p.Lys71fs) deletion Renal cysts and diabetes syndrome [RCV000787247] Chr17:37744668..37744674 [GRCh38]
Chr17:36104659..36104665 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.206_207del (p.His69fs) deletion Renal cysts and diabetes syndrome [RCV000787250] Chr17:37744678..37744679 [GRCh38]
Chr17:36104669..36104670 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.715_717del (p.Gly239del) deletion Renal cysts and diabetes syndrome [RCV000787263] Chr17:37733649..37733651 [GRCh38]
Chr17:36093642..36093644 [GRCh37]
Chr17:17q12		 pathogenic
NM_000458.4(HNF1B):c.545-73TCTG[7] microsatellite not provided [RCV000836344] Chr17:37733870..37733871 [GRCh38]
Chr17:36093863..36093864 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.1535-225_1535-224insC insertion Maturity onset diabetes mellitus in young [RCV002465798]|not provided [RCV000836345] Chr17:37699418..37699419 [GRCh38]
Chr17:36059424..36059425 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.1535-177T>C single nucleotide variant Maturity onset diabetes mellitus in young [RCV002465799]|not provided [RCV000836347] Chr17:37699371 [GRCh38]
Chr17:36059377 [GRCh37]
Chr17:17q12		 benign
NM_000458.4(HNF1B):c.1207-247_1207-246insGG insertion Maturity onset diabetes mellitus in young [RCV002464336]|not provided [RCV000836374] Chr17:37705295..37705296 [GRCh38]
Chr17:36065302..36065303 [GRCh37]
Chr17:17q12		 benign