NTHL1 (nth like DNA glycosylase 1) - Rat Genome Database

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Gene: NTHL1 (nth like DNA glycosylase 1) Homo sapiens
Analyze
Symbol: NTHL1
Name: nth like DNA glycosylase 1
RGD ID: 1319554
HGNC Page HGNC:8028
Description: Enables DNA binding activity and catalytic activity, acting on DNA. Involved in base-excision repair, AP site formation and nucleotide-excision repair. Located in nucleus. Implicated in familial adenomatous polyposis 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bifunctional DNA N-glycoslyase/DNA-(apurinic or apyrimidinic site) lyase; bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase; DNA glycoslyase/AP lyase; DNA glycosylase/AP lyase; endonuclease III-like protein 1; FAP3; hNTH1; nth endonuclease III-like 1; nth-like DNA glycosylase 1; NTH1; OCTS3
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
GRCh38162,039,820 - 2,047,834 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl162,039,815 - 2,047,866 (-)EnsemblGRCh38hg38GRCh38
GRCh37162,089,821 - 2,097,835 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,029,817 - 2,037,868 (-)NCBINCBI36Build 36hg18NCBI36
Build 34162,029,816 - 2,037,868NCBI
Celera162,301,923 - 2,309,974 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,014,043 - 2,022,132 (-)NCBIHuRef
CHM1_1162,089,796 - 2,097,842 (-)NCBICHM1_1
T2T-CHM13v2.0162,059,629 - 2,067,643 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Suppression of tumor suppressor Tsc2 and DNA repair glycosylase Nth1 during spontaneous liver tumorigenesis in Long-Evans Cinnamon rats. Sajankila SP, etal., Mol Cell Biochem. 2010 May;338(1-2):233-9. doi: 10.1007/s11010-009-0357-1. Epub 2009 Dec 24.
Additional References at PubMed
PMID:8611553   PMID:8990169   PMID:9045706   PMID:9705289   PMID:9743625   PMID:9831664   PMID:9927729   PMID:10583946   PMID:10882850   PMID:11328882   PMID:11937636   PMID:12140329  
PMID:12144783   PMID:12167705   PMID:12477932   PMID:12519758   PMID:12531031   PMID:14522981   PMID:14734554   PMID:15260972   PMID:15358233   PMID:15489334   PMID:15533839   PMID:15616553  
PMID:16111924   PMID:16446124   PMID:17150535   PMID:17353931   PMID:17923696   PMID:18307537   PMID:18515411   PMID:19414504   PMID:20226869   PMID:20522537   PMID:20574454   PMID:20834067  
PMID:20843780   PMID:20877624   PMID:21048031   PMID:21873635   PMID:22020285   PMID:22465744   PMID:22658674   PMID:22678362   PMID:22939629   PMID:23891004   PMID:24163370   PMID:24332808  
PMID:25938944   PMID:26167880   PMID:26400813   PMID:26496610   PMID:26559593   PMID:27713038   PMID:27839712   PMID:28065597   PMID:28292631   PMID:28514442   PMID:28575236   PMID:28709015  
PMID:29522130   PMID:29610152   PMID:30207305   PMID:30552997   PMID:30554943   PMID:30649547   PMID:30753826   PMID:30804502   PMID:31091453   PMID:31227763   PMID:31470122   PMID:31527615  
PMID:31540324   PMID:32109332   PMID:32239880   PMID:32807901   PMID:32860789   PMID:32949222   PMID:33087284   PMID:33454955   PMID:33961781   PMID:34250384   PMID:34800366   PMID:34871433  
PMID:35271311   PMID:35944360   PMID:36089195   PMID:36244648   PMID:36279116   PMID:36574265   PMID:36581342   PMID:37704626   PMID:37827155   PMID:38036545   PMID:38483510   PMID:39147115  


Genomics

Comparative Map Data
NTHL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,039,820 - 2,047,834 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl162,039,815 - 2,047,866 (-)EnsemblGRCh38hg38GRCh38
GRCh37162,089,821 - 2,097,835 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,029,817 - 2,037,868 (-)NCBINCBI36Build 36hg18NCBI36
Build 34162,029,816 - 2,037,868NCBI
Celera162,301,923 - 2,309,974 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,014,043 - 2,022,132 (-)NCBIHuRef
CHM1_1162,089,796 - 2,097,842 (-)NCBICHM1_1
T2T-CHM13v2.0162,059,629 - 2,067,643 (-)NCBIT2T-CHM13v2.0
Nthl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391724,851,656 - 24,857,812 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1724,851,654 - 24,857,811 (+)EnsemblGRCm39 Ensembl
GRCm381724,632,680 - 24,638,838 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1724,632,680 - 24,638,837 (+)EnsemblGRCm38mm10GRCm38
MGSCv371724,769,627 - 24,775,783 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361724,360,310 - 24,366,437 (+)NCBIMGSCv36mm8
Celera1725,155,083 - 25,161,227 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.42NCBI
Nthl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81014,160,334 - 14,166,502 (+)NCBIGRCr8
mRatBN7.21013,655,791 - 13,661,958 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1013,655,785 - 13,661,957 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1018,402,559 - 18,408,752 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01017,891,405 - 17,897,598 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01013,390,604 - 13,396,797 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01013,996,660 - 14,002,827 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1013,996,645 - 14,002,910 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01013,813,645 - 13,819,807 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41013,883,284 - 13,889,790 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11013,883,284 - 13,889,789 (+)NCBI
Celera1013,335,808 - 13,342,040 (+)NCBICelera
Cytogenetic Map10q12NCBI
Nthl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,217,019 - 15,223,272 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,210,799 - 15,223,272 (+)NCBIChiLan1.0ChiLan1.0
NTHL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2182,298,565 - 2,306,762 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1166,080,263 - 6,088,450 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v016655,433 - 663,521 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1162,127,858 - 2,135,656 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl162,127,858 - 2,135,656 (-)Ensemblpanpan1.1panPan2
NTHL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1638,899,144 - 38,904,637 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl638,899,126 - 38,905,622 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,137,884 - 40,143,376 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0639,207,235 - 39,212,727 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl639,207,226 - 39,212,603 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1638,892,037 - 38,897,529 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0638,864,355 - 38,869,847 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0639,343,154 - 39,348,649 (+)NCBIUU_Cfam_GSD_1.0
Nthl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,709,140 - 104,716,032 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366941,993,443 - 2,000,333 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366941,993,443 - 2,000,323 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NTHL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl339,935,475 - 39,941,712 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1339,935,619 - 39,941,718 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2342,239,826 - 42,245,913 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NTHL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,936,415 - 1,946,468 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl51,936,524 - 1,946,434 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606829,119,815 - 29,128,253 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nthl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624913202,988 - 209,289 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624913203,065 - 209,758 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NTHL1
1355 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002528.7(NTHL1):c.476C>G (p.Thr159Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348695]|not provided [RCV001211985] Chr16:2044679 [GRCh38]
Chr16:2094680 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:2046988-2060016)x3 copy number gain See cases [RCV000050702] Chr16:2046988..2060016 [GRCh38]
Chr16:2096989..2110017 [GRCh37]
Chr16:2036990..2050018 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.203del (p.Gly68fs) deletion Familial adenomatous polyposis 3 [RCV003458204]|Hereditary cancer-predisposing syndrome [RCV004026006]|not provided [RCV000657475] Chr16:2046279 [GRCh38]
Chr16:2096280 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.795del (p.Glu265fs) deletion Familial adenomatous polyposis 3 [RCV003458205]|Hereditary cancer-predisposing syndrome [RCV002424557]|not provided [RCV000657491] Chr16:2040044 [GRCh38]
Chr16:2090045 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.661G>A (p.Ala221Thr) single nucleotide variant Familial adenomatous polyposis 3 [RCV001292862]|Hereditary cancer-predisposing syndrome [RCV002366111] Chr16:2043591 [GRCh38]
Chr16:2093592 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.525+3G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350551]|not provided [RCV001303618] Chr16:2044627 [GRCh38]
Chr16:2094628 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.526-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256733]|not provided [RCV001303110] Chr16:2043729 [GRCh38]
Chr16:2093730 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.-15C>T single nucleotide variant Familial adenomatous polyposis 3 [RCV004570847]|Hereditary cancer-predisposing syndrome [RCV002431983]|not provided [RCV001348752] Chr16:2047838 [GRCh38]
Chr16:2097839 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV000172911]|Hereditary cancer-predisposing syndrome [RCV000850062]|NTHL1-related disorder [RCV003416065]|not provided [RCV000657657] Chr16:2046238 [GRCh38]
Chr16:2096239 [GRCh37]
Chr16:16p13.3		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3 copy number gain See cases [RCV000135695] Chr16:1850978..2116369 [GRCh38]
Chr16:1900979..2166370 [GRCh37]
Chr16:1840980..2106371 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3(chr16:2025885-2088686)x1 copy number loss See cases [RCV000140857] Chr16:2025885..2088686 [GRCh38]
Chr16:2075886..2138687 [GRCh37]
Chr16:2015887..2078688 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
NM_002528.7(NTHL1):c.685+1G>A single nucleotide variant Familial adenomatous polyposis 3 [RCV000202319]|Hereditary cancer-predisposing syndrome [RCV003352802]|not provided [RCV000807122] Chr16:2043566 [GRCh38]
Chr16:2093567 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) single nucleotide variant Familial adenomatous polyposis 3 [RCV000767388]|Hereditary cancer-predisposing syndrome [RCV001023853]|NTHL1-related disorder [RCV003953261]|not provided [RCV000896408]|not specified [RCV001816746] Chr16:2044652 [GRCh38]
Chr16:2094653 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3(chr16:2096989-2135026)x1 copy number loss See cases [RCV000239976] Chr16:2096989..2135026 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2096989-2126539)x1 copy number loss See cases [RCV000239844] Chr16:2096989..2126539 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2096989-2100568)x1 copy number loss See cases [RCV000240588] Chr16:2096989..2100568 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) single nucleotide variant Familial adenomatous polyposis 3 [RCV000765258]|Hereditary cancer-predisposing syndrome [RCV001017807]|NTHL1-related disorder [RCV003945401]|not provided [RCV000592496]|not specified [RCV001800825] Chr16:2046208 [GRCh38]
Chr16:2096209 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.792-7C>A single nucleotide variant not provided [RCV000806092] Chr16:2040054 [GRCh38]
Chr16:2090055 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.620C>T (p.Pro207Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003325216]|Hereditary cancer-predisposing syndrome [RCV001025278]|not provided [RCV000806170] Chr16:2043632 [GRCh38]
Chr16:2093633 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.184G>A (p.Gly62Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014395]|not provided [RCV000806180] Chr16:2046298 [GRCh38]
Chr16:2096299 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_002528.7(NTHL1):c.843C>T (p.Thr281=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293265] Chr16:2039996 [GRCh38]
Chr16:2089997 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.16G>T (p.Ala6Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302009] Chr16:2047808 [GRCh38]
Chr16:2097809 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.345C>T (p.Ala115=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020914]|not provided [RCV000935933]|not specified [RCV002465737] Chr16:2046137 [GRCh38]
Chr16:2096138 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.832G>A (p.Gly278Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV000767389]|Hereditary cancer-predisposing syndrome [RCV001018027]|not provided [RCV000816265] Chr16:2040007 [GRCh38]
Chr16:2090008 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
NM_002528.7(NTHL1):c.437T>G (p.Leu146Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302011] Chr16:2044718 [GRCh38]
Chr16:2094719 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.853G>C (p.Val285Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302012] Chr16:2039986 [GRCh38]
Chr16:2089987 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.469C>T (p.Leu157=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302016] Chr16:2044686 [GRCh38]
Chr16:2094687 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.519C>G (p.Phe173Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293267] Chr16:2044636 [GRCh38]
Chr16:2094637 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.545dup (p.Gln183fs) duplication Familial adenomatous polyposis 1 [RCV004720390]|Hereditary cancer-predisposing syndrome [RCV003293268] Chr16:2043706..2043707 [GRCh38]
Chr16:2093707..2093708 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
NM_002528.7(NTHL1):c.420G>A (p.Ala140=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256412]|not provided [RCV000935721] Chr16:2044735 [GRCh38]
Chr16:2094736 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.526-11_526-10del deletion Hereditary cancer-predisposing syndrome [RCV002256411]|not provided [RCV000915882]|not specified [RCV004596302] Chr16:2043736..2043737 [GRCh38]
Chr16:2093737..2093738 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_002528.7(NTHL1):c.444G>A (p.Ala148=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022899]|NTHL1-related disorder [RCV003962814]|not provided [RCV000935646] Chr16:2044711 [GRCh38]
Chr16:2094712 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.516T>G (p.Gly172=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343151]|not provided [RCV002066639]|not specified [RCV000613064] Chr16:2044639 [GRCh38]
Chr16:2094640 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.115+6G>A single nucleotide variant not provided [RCV000812618]|not specified [RCV000610479] Chr16:2047703 [GRCh38]
Chr16:2097704 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.610G>C (p.Val204Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296429] Chr16:2043642 [GRCh38]
Chr16:2093643 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
NM_002528.7(NTHL1):c.613G>T (p.Ala205Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293269] Chr16:2043639 [GRCh38]
Chr16:2093640 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_002528.7(NTHL1):c.211dup (p.Ala71fs) duplication Familial adenomatous polyposis 3 [RCV001310141]|Hereditary cancer-predisposing syndrome [RCV002256456]|not provided [RCV000657485] Chr16:2046270..2046271 [GRCh38]
Chr16:2096271..2096272 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1 copy number loss not provided [RCV000683746] Chr16:1734363..2285561 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
Single allele inversion Hereditary cancer-predisposing syndrome [RCV000850149] Chr16:1566500..2119769 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1807896-2311160)x3 copy number gain not provided [RCV000738986] Chr16:1807896..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1813658-2319717)x3 copy number gain not provided [RCV000738989] Chr16:1813658..2319717 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2036937-2093576)x1 copy number loss not provided [RCV000751522] Chr16:2036937..2093576 [GRCh37]
Chr16:16p13.3		 benign
NM_002528.7(NTHL1):c.115+10C>T single nucleotide variant not provided [RCV000940213] Chr16:2047699 [GRCh38]
Chr16:2097700 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_002528.7(NTHL1):c.183G>A (p.Glu61=) single nucleotide variant not provided [RCV000938011] Chr16:2046299 [GRCh38]
Chr16:2096300 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.30C>G (p.Thr10=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346122]|not provided [RCV000936067] Chr16:2047794 [GRCh38]
Chr16:2097795 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.450C>T (p.Gly150=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336970]|not provided [RCV000939652] Chr16:2044705 [GRCh38]
Chr16:2094706 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.486C>T (p.Ala162=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023558]|not provided [RCV000936454] Chr16:2044669 [GRCh38]
Chr16:2094670 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV001535451]|Hereditary cancer-predisposing syndrome [RCV001018044]|NTHL1-related disorder [RCV004751695]|not provided [RCV000760534] Chr16:2040004 [GRCh38]
Chr16:2090005 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_002528.7(NTHL1):c.644A>G (p.His215Arg) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467810]|Hereditary cancer-predisposing syndrome [RCV002365736]|not provided [RCV001060886] Chr16:2043608 [GRCh38]
Chr16:2093609 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.88C>G (p.Pro30Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320298]|not provided [RCV001054452] Chr16:2047736 [GRCh38]
Chr16:2097737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.349C>A (p.Pro117Thr) single nucleotide variant Familial adenomatous polyposis 3 [RCV001789786]|Hereditary cancer-predisposing syndrome [RCV002365709]|not provided [RCV001055409]|not specified [RCV002268420] Chr16:2046133 [GRCh38]
Chr16:2096134 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.689_691del (p.Val230del) deletion not provided [RCV001056452] Chr16:2040233..2040235 [GRCh38]
Chr16:2090234..2090236 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.41G>A (p.Ser14Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374937]|not provided [RCV001057848]|not specified [RCV003321791] Chr16:2047783 [GRCh38]
Chr16:2097784 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.298G>A (p.Ala100Thr) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467788]|Hereditary cancer-predisposing syndrome [RCV002258117]|not provided [RCV001058068] Chr16:2046184 [GRCh38]
Chr16:2096185 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.116-9dup duplication Hereditary cancer-predisposing syndrome [RCV002391035]|NTHL1-related disorder [RCV004751847]|not provided [RCV000982549] Chr16:2046370..2046371 [GRCh38]
Chr16:2096371..2096372 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.705C>T (p.His235=) single nucleotide variant not provided [RCV000944892] Chr16:2040219 [GRCh38]
Chr16:2090220 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_002528.7(NTHL1):c.564G>C (p.Leu188=) single nucleotide variant not provided [RCV000944914] Chr16:2043688 [GRCh38]
Chr16:2093689 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.681C>T (p.Gly227=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363457]|not provided [RCV000944989] Chr16:2043571 [GRCh38]
Chr16:2093572 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.54G>C (p.Gly18=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409308]|not provided [RCV000983103] Chr16:2047770 [GRCh38]
Chr16:2097771 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.297T>C (p.Asp99=) single nucleotide variant not provided [RCV000983170] Chr16:2046185 [GRCh38]
Chr16:2096186 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.744C>G (p.Thr248=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400153]|not provided [RCV000982525] Chr16:2040180 [GRCh38]
Chr16:2090181 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.15C>T (p.Ser5=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004639420]|not provided [RCV000975836] Chr16:2047809 [GRCh38]
Chr16:2097810 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.375G>A (p.Leu125=) single nucleotide variant not provided [RCV000943683] Chr16:2044780 [GRCh38]
Chr16:2094781 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.777G>A (p.Glu259=) single nucleotide variant not provided [RCV000976245] Chr16:2040147 [GRCh38]
Chr16:2090148 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.685+9A>G single nucleotide variant not provided [RCV000976305] Chr16:2043558 [GRCh38]
Chr16:2093559 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.366C>T (p.Tyr122=) single nucleotide variant not provided [RCV000944234] Chr16:2044789 [GRCh38]
Chr16:2094790 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.60G>T (p.Gly20=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445135]|not provided [RCV000980995] Chr16:2047764 [GRCh38]
Chr16:2097765 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.526-10T>C single nucleotide variant not provided [RCV000944541] Chr16:2043736 [GRCh38]
Chr16:2093737 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.621G>A (p.Pro207=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258046]|NTHL1-related disorder [RCV004751821]|not provided [RCV000925466]|not specified [RCV002268355] Chr16:2043631 [GRCh38]
Chr16:2093632 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.621G>C (p.Pro207=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025292]|not provided [RCV000983636] Chr16:2043631 [GRCh38]
Chr16:2093632 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.93C>A (p.Leu31=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336984]|not provided [RCV000942516] Chr16:2047731 [GRCh38]
Chr16:2097732 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.336C>G (p.Asp112Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451310]|not provided [RCV001071197] Chr16:2046146 [GRCh38]
Chr16:2096147 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_2039924)_(2048065_?)dup duplication Tuberous sclerosis 2 [RCV001364791]|not provided [RCV001033362] Chr16:2089925..2098066 [GRCh37]
Chr16:16p13.3		 uncertain significance|no classifications from unflagged records
NM_002528.7(NTHL1):c.32G>T (p.Arg11Leu) single nucleotide variant not provided [RCV001037470] Chr16:2047792 [GRCh38]
Chr16:2097793 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.288_290del (p.Asn96del) deletion Hereditary cancer-predisposing syndrome [RCV004031332]|not provided [RCV001043838] Chr16:2046192..2046194 [GRCh38]
Chr16:2096193..2096195 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.187T>G (p.Ser63Ala) single nucleotide variant not provided [RCV001071933] Chr16:2046295 [GRCh38]
Chr16:2096296 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.262C>A (p.Leu88Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436601]|not provided [RCV001050733] Chr16:2046220 [GRCh38]
Chr16:2096221 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.526-10T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255607]|not provided [RCV001039767] Chr16:2043736 [GRCh38]
Chr16:2093737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.574T>G (p.Tyr192Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355039]|NTHL1-related disorder [RCV004553594]|not provided [RCV001053550] Chr16:2043678 [GRCh38]
Chr16:2093679 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_002528.7(NTHL1):c.631C>T (p.Pro211Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363570]|not provided [RCV001040177] Chr16:2043621 [GRCh38]
Chr16:2093622 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.532G>T (p.Val178Leu) single nucleotide variant not provided [RCV001040217] Chr16:2043720 [GRCh38]
Chr16:2093721 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.410A>T (p.Gln137Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467723]|not provided [RCV001040568] Chr16:2044745 [GRCh38]
Chr16:2094746 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.64C>T (p.Arg22Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374965]|not provided [RCV001064256] Chr16:2047760 [GRCh38]
Chr16:2097761 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.232G>A (p.Val78Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160560]|not provided [RCV001068251] Chr16:2046250 [GRCh38]
Chr16:2096251 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.680G>C (p.Gly227Ala) single nucleotide variant not provided [RCV001061555] Chr16:2043572 [GRCh38]
Chr16:2093573 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.304G>A (p.Val102Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256650]|not provided [RCV001041935] Chr16:2046178 [GRCh38]
Chr16:2096179 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.569A>T (p.Gln190Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355016]|not provided [RCV001046371] Chr16:2043683 [GRCh38]
Chr16:2093684 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.416CGG[1] (p.Ala140del) microsatellite Hereditary cancer-predisposing syndrome [RCV002327360]|not provided [RCV001069016] Chr16:2044734..2044736 [GRCh38]
Chr16:2094735..2094737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.380C>T (p.Ser127Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320253]|not provided [RCV001042202] Chr16:2044775 [GRCh38]
Chr16:2094776 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.319A>C (p.Thr107Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451195]|not provided [RCV001048419] Chr16:2046163 [GRCh38]
Chr16:2096164 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.855_856delinsTT (p.His286Tyr) indel Hereditary cancer-predisposing syndrome [RCV003160201]|not provided [RCV001035080] Chr16:2039983..2039984 [GRCh38]
Chr16:2089984..2089985 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.650_653dup (p.Met218fs) duplication Hereditary cancer-predisposing syndrome [RCV004649425]|not provided [RCV001048612] Chr16:2043598..2043599 [GRCh38]
Chr16:2093599..2093600 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_002528.7(NTHL1):c.596C>G (p.Ser199Cys) single nucleotide variant not provided [RCV001071762] Chr16:2043656 [GRCh38]
Chr16:2093657 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_2039924)_(2093096_?)del deletion Tuberous sclerosis 2 [RCV001386091]|not provided [RCV001032167] Chr16:2089925..2143097 [GRCh37]
Chr16:16p13.3		 pathogenic|no classifications from unflagged records
NC_000016.10:g.(?_2039924)_(2082514_?)dup duplication Tuberous sclerosis 2 [RCV001364792]|not provided [RCV001033192] Chr16:2089925..2132515 [GRCh37]
Chr16:16p13.3		 uncertain significance|no classifications from unflagged records
NM_002528.7(NTHL1):c.68G>T (p.Gly23Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374897]|not provided [RCV001049217] Chr16:2047756 [GRCh38]
Chr16:2097757 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.792-3C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416375]|not provided [RCV001049414] Chr16:2040050 [GRCh38]
Chr16:2090051 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.176C>T (p.Ala59Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV004570279]|Hereditary cancer-predisposing syndrome [RCV002418550]|not provided [RCV001066597] Chr16:2046306 [GRCh38]
Chr16:2096307 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_1203718)_(2185710_?)del deletion Tuberous sclerosis 2 [RCV001033886] Chr16:1203718..2185710 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.313C>G (p.Leu105Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004030757]|not provided [RCV001070608] Chr16:2046169 [GRCh38]
Chr16:2096170 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.859C>T (p.Pro287Ser) single nucleotide variant not provided [RCV001049579] Chr16:2039980 [GRCh38]
Chr16:2089981 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.344C>A (p.Ala115Asp) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569638]|Hereditary cancer-predisposing syndrome [RCV002352388]|not provided [RCV000806918] Chr16:2046138 [GRCh38]
Chr16:2096139 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.805G>A (p.Glu269Lys) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569495]|Hereditary cancer-predisposing syndrome [RCV001027375]|not provided [RCV000791544] Chr16:2040034 [GRCh38]
Chr16:2090035 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.359G>A (p.Arg120His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021267]|not provided [RCV000791743] Chr16:2044796 [GRCh38]
Chr16:2094797 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV001784408]|Hereditary cancer-predisposing syndrome [RCV001027136]|not provided [RCV000792395] Chr16:2040142 [GRCh38]
Chr16:2090143 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_002528.7(NTHL1):c.59G>A (p.Gly20Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440734]|not provided [RCV000808918] Chr16:2047765 [GRCh38]
Chr16:2097766 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.354+4G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021121]|NTHL1-related disorder [RCV003892739]|not provided [RCV000813619]|not specified [RCV002465788] Chr16:2046124 [GRCh38]
Chr16:2096125 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.576C>T (p.Tyr192=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024803]|NTHL1-related disorder [RCV003950848]|not provided [RCV000917526]|not specified [RCV004596372] Chr16:2043676 [GRCh38]
Chr16:2093677 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.69G>T (p.Gly23=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372625]|not provided [RCV000941444] Chr16:2047755 [GRCh38]
Chr16:2097756 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.116-9T>C single nucleotide variant not provided [RCV000939709] Chr16:2046375 [GRCh38]
Chr16:2096376 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.6C>T (p.Thr2=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003363018]|not provided [RCV000933087] Chr16:2047818 [GRCh38]
Chr16:2097819 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.870C>T (p.His290=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256624]|not provided [RCV000938650] Chr16:2039969 [GRCh38]
Chr16:2089970 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.100A>C (p.Arg34=) single nucleotide variant not provided [RCV000979110] Chr16:2047724 [GRCh38]
Chr16:2097725 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.66G>C (p.Arg22=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372599]|not provided [RCV000933145] Chr16:2047758 [GRCh38]
Chr16:2097759 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.765C>T (p.Arg255=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256625]|not provided [RCV000938959]|not specified [RCV003321767] Chr16:2040159 [GRCh38]
Chr16:2090160 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.-1C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454154]|not provided [RCV000940328]|not specified [RCV003320223] Chr16:2047824 [GRCh38]
Chr16:2097825 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.432G>A (p.Gln144=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337025]|not provided [RCV000979496] Chr16:2044723 [GRCh38]
Chr16:2094724 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.141G>A (p.Val47=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400009]|not provided [RCV000918526] Chr16:2046341 [GRCh38]
Chr16:2096342 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.115+9G>A single nucleotide variant Familial adenomatous polyposis 3 [RCV002502883]|not provided [RCV000941810] Chr16:2047700 [GRCh38]
Chr16:2097701 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.603C>T (p.Ala201=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363439]|not provided [RCV000940733] Chr16:2043649 [GRCh38]
Chr16:2093650 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.453G>A (p.Leu151=) single nucleotide variant not provided [RCV000937067] Chr16:2044702 [GRCh38]
Chr16:2094703 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.348C>A (p.Pro116=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020986]|NTHL1-related disorder [RCV003895699]|not provided [RCV000937374] Chr16:2046134 [GRCh38]
Chr16:2096135 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.72T>C (p.Cys24=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169419]|not provided [RCV000939707] Chr16:2047752 [GRCh38]
Chr16:2097753 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.489G>A (p.Thr163=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023600]|NTHL1-related disorder [RCV003925836]|not provided [RCV000941155] Chr16:2044666 [GRCh38]
Chr16:2094667 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.6C>G (p.Thr2=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320137]|not provided [RCV000939146] Chr16:2047818 [GRCh38]
Chr16:2097819 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.318G>A (p.Gly106=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004029713]|not provided [RCV000941318] Chr16:2046164 [GRCh38]
Chr16:2096165 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.897G>A (p.Pro299=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019026]|not provided [RCV000936184] Chr16:2039942 [GRCh38]
Chr16:2089943 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.138C>T (p.Pro46=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012491]|not provided [RCV000936329]|not specified [RCV002268366] Chr16:2046344 [GRCh38]
Chr16:2096345 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.556G>T (p.Ala186Ser) single nucleotide variant not provided [RCV002284654] Chr16:2043696 [GRCh38]
Chr16:2093697 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.43C>G (p.Leu15Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569589]|Hereditary cancer-predisposing syndrome [RCV002360957]|not provided [RCV000802537] Chr16:2047781 [GRCh38]
Chr16:2097782 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.897_904del (p.Ala300fs) deletion not provided [RCV000813557] Chr16:2039935..2039942 [GRCh38]
Chr16:2089936..2089943 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.752C>T (p.Pro251Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569509]|Hereditary cancer-predisposing syndrome [RCV001026794]|not provided [RCV000792810] Chr16:2040172 [GRCh38]
Chr16:2090173 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.2T>A (p.Met1Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004028775]|not provided [RCV000812615] Chr16:2047822 [GRCh38]
Chr16:2097823 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.25C>G (p.Leu9Val) single nucleotide variant not provided [RCV000802597] Chr16:2047799 [GRCh38]
Chr16:2097800 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.188C>T (p.Ser63Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014556]|not provided [RCV000822625] Chr16:2046294 [GRCh38]
Chr16:2096295 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.145C>T (p.Arg49Cys) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467434]|Hereditary cancer-predisposing syndrome [RCV002397662]|NTHL1-related disorder [RCV004751723]|not provided [RCV000809525] Chr16:2046337 [GRCh38]
Chr16:2096338 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV003458208]|Hereditary cancer-predisposing syndrome [RCV002352346]|not provided [RCV000799280] Chr16:2044789 [GRCh38]
Chr16:2094790 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.31C>G (p.Arg11Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002345886]|not provided [RCV000819128] Chr16:2047793 [GRCh38]
Chr16:2097794 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.116-37T>C single nucleotide variant not provided [RCV000839416]|not specified [RCV002268336] Chr16:2046403 [GRCh38]
Chr16:2096404 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_002528.7(NTHL1):c.637A>G (p.Met213Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467403]|Hereditary cancer-predisposing syndrome [RCV002360970]|not provided [RCV000804564] Chr16:2043615 [GRCh38]
Chr16:2093616 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.525+131C>T single nucleotide variant not provided [RCV000839474] Chr16:2044499 [GRCh38]
Chr16:2094500 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.792-6C>G single nucleotide variant not provided [RCV000804576] Chr16:2040053 [GRCh38]
Chr16:2090054 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.445C>T (p.Arg149Trp) single nucleotide variant Familial adenomatous polyposis 3 [RCV001535743]|Hereditary cancer-predisposing syndrome [RCV001022917]|not provided [RCV000822885] Chr16:2044710 [GRCh38]
Chr16:2094711 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_002528.7(NTHL1):c.693C>A (p.Asp231Glu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467513]|Hereditary cancer-predisposing syndrome [RCV003307559]|not provided [RCV000822923] Chr16:2040231 [GRCh38]
Chr16:2090232 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.9C>T (p.Ala3=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453912]|NTHL1-related disorder [RCV003892761]|not provided [RCV000828130]|not specified [RCV002465790] Chr16:2047815 [GRCh38]
Chr16:2097816 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.614C>T (p.Ala205Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467337]|Hereditary cancer-predisposing syndrome [RCV001025209]|NTHL1-related disorder [RCV003411745]|not provided [RCV000793824]|not specified [RCV002465780] Chr16:2043638 [GRCh38]
Chr16:2093639 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.62C>A (p.Pro21Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004649338]|not provided [RCV000813233] Chr16:2047762 [GRCh38]
Chr16:2097763 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.746A>G (p.Lys249Arg) single nucleotide variant Familial adenomatous polyposis 3 [RCV003153857]|Hereditary cancer-predisposing syndrome [RCV001026740]|not provided [RCV000815936]|not specified [RCV002268308] Chr16:2040178 [GRCh38]
Chr16:2090179 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.808A>G (p.Ile270Val) single nucleotide variant not provided [RCV000821108] Chr16:2040031 [GRCh38]
Chr16:2090032 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.424G>A (p.Ala142Thr) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569779]|Hereditary cancer-predisposing syndrome [RCV002332719]|not provided [RCV000823171] Chr16:2044731 [GRCh38]
Chr16:2094732 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.764G>A (p.Arg255His) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467378]|Hereditary cancer-predisposing syndrome [RCV001026916]|not provided [RCV000799534] Chr16:2040160 [GRCh38]
Chr16:2090161 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.882C>G (p.Asn294Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370117]|not provided [RCV000801236] Chr16:2039957 [GRCh38]
Chr16:2089958 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp) single nucleotide variant Familial adenomatous polyposis 3 [RCV001535682]|Hereditary cancer-predisposing syndrome [RCV001025970]|not provided [RCV000804775]|not specified [RCV001816871] Chr16:2043572 [GRCh38]
Chr16:2093573 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_002528.7(NTHL1):c.842C>T (p.Thr281Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442755]|not provided [RCV000821199] Chr16:2039997 [GRCh38]
Chr16:2089998 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.863G>A (p.Arg288His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442698]|not provided [RCV000807053] Chr16:2039976 [GRCh38]
Chr16:2089977 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.791+5G>A single nucleotide variant not provided [RCV000794011] Chr16:2040128 [GRCh38]
Chr16:2090129 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV003458206]|Hereditary cancer-predisposing syndrome [RCV001021416]|not provided [RCV000798528] Chr16:2044789 [GRCh38]
Chr16:2094790 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.613G>A (p.Ala205Thr) single nucleotide variant Familial adenomatous polyposis 3 [RCV003461216]|Hereditary cancer-predisposing syndrome [RCV002352424]|not provided [RCV000813666] Chr16:2043639 [GRCh38]
Chr16:2093640 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.282G>C (p.Met94Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442659]|not provided [RCV000801325] Chr16:2046200 [GRCh38]
Chr16:2096201 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.718A>G (p.Arg240Gly) single nucleotide variant not provided [RCV000804850] Chr16:2040206 [GRCh38]
Chr16:2090207 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.22A>C (p.Met8Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467419]|Hereditary cancer-predisposing syndrome [RCV002336647]|not provided [RCV000807336] Chr16:2047802 [GRCh38]
Chr16:2097803 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV003458212]|Hereditary cancer-predisposing syndrome [RCV002332652]|not provided [RCV000807474] Chr16:2044746 [GRCh38]
Chr16:2094747 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.355G>T (p.Val119Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467340]|Hereditary cancer-predisposing syndrome [RCV002352323]|not provided [RCV000794253] Chr16:2044800 [GRCh38]
Chr16:2094801 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.172G>T (p.Val58Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003483727]|Hereditary cancer-predisposing syndrome [RCV002422718]|not provided [RCV000797626] Chr16:2046310 [GRCh38]
Chr16:2096311 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_002528.7(NTHL1):c.907G>C (p.Gly303Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019169]|not provided [RCV000823817] Chr16:2039932 [GRCh38]
Chr16:2089933 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NC_000016.10:g.2047846A>G single nucleotide variant not provided [RCV000793878] Chr16:2047846 [GRCh38]
Chr16:2097847 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.146G>A (p.Arg49His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257970]|not provided [RCV000806226] Chr16:2046336 [GRCh38]
Chr16:2096337 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV003458209]|Hereditary cancer-predisposing syndrome [RCV002336609]|not provided [RCV000801523] Chr16:2044722 [GRCh38]
Chr16:2094723 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.295G>T (p.Asp99Tyr) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569598]|Hereditary cancer-predisposing syndrome [RCV004028138]|not provided [RCV000803262] Chr16:2046187 [GRCh38]
Chr16:2096188 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.896C>T (p.Pro299Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467507]|Hereditary cancer-predisposing syndrome [RCV001019003]|not provided [RCV000821534] Chr16:2039943 [GRCh38]
Chr16:2089944 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.672T>G (p.Thr224=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363423]|not provided [RCV000937388] Chr16:2043580 [GRCh38]
Chr16:2093581 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.671C>T (p.Thr224Ile) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467451]|Hereditary cancer-predisposing syndrome [RCV002363097]|not provided [RCV000811180] Chr16:2043581 [GRCh38]
Chr16:2093582 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.463A>G (p.Ser155Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336640]|not provided [RCV000806528] Chr16:2044692 [GRCh38]
Chr16:2094693 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.806A>T (p.Glu269Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467477]|Hereditary cancer-predisposing syndrome [RCV002427016]|not provided [RCV000816420] Chr16:2040033 [GRCh38]
Chr16:2090034 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.281T>C (p.Met94Thr) single nucleotide variant not provided [RCV000819772] Chr16:2046201 [GRCh38]
Chr16:2096202 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.769G>C (p.Ala257Pro) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467493]|Hereditary cancer-predisposing syndrome [RCV001026981]|not provided [RCV000819782] Chr16:2040155 [GRCh38]
Chr16:2090156 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.526-1G>A single nucleotide variant Familial adenomatous polyposis 3 [RCV002290473]|Hereditary cancer-predisposing syndrome [RCV001024197]|not provided [RCV000824366] Chr16:2043727 [GRCh38]
Chr16:2093728 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.349C>G (p.Pro117Ala) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467346]|Hereditary cancer-predisposing syndrome [RCV002343660]|not provided [RCV000795098] Chr16:2046133 [GRCh38]
Chr16:2096134 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.455C>G (p.Thr152Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336704]|not provided [RCV000819947] Chr16:2044700 [GRCh38]
Chr16:2094701 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.71G>A (p.Cys24Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019545]|NTHL1-related disorder [RCV003413662]|not provided [RCV000824649] Chr16:2047753 [GRCh38]
Chr16:2097754 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.455C>T (p.Thr152Met) single nucleotide variant Familial adenomatous polyposis 3 [RCV003461120]|Hereditary cancer-predisposing syndrome [RCV001023068]|NTHL1-related disorder [RCV003411759]|not provided [RCV000800146] Chr16:2044700 [GRCh38]
Chr16:2094701 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.551C>G (p.Thr184Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569565]|Hereditary cancer-predisposing syndrome [RCV002345782]|not provided [RCV000800150] Chr16:2043701 [GRCh38]
Chr16:2093702 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys) single nucleotide variant Familial adenomatous polyposis 3 [RCV003483742]|Hereditary cancer-predisposing syndrome [RCV001013758]|not provided [RCV000820003] Chr16:2046313 [GRCh38]
Chr16:2096314 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_002528.7(NTHL1):c.95G>A (p.Arg32Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004028719]|not provided [RCV000811166] Chr16:2047729 [GRCh38]
Chr16:2097730 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.-5C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259015]|not provided [RCV000791629] Chr16:2047828 [GRCh38]
Chr16:2097829 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.170G>A (p.Arg57His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013720]|NTHL1-related disorder [RCV003411787]|not provided [RCV000808834] Chr16:2046312 [GRCh38]
Chr16:2096313 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.116-1G>A single nucleotide variant Familial adenomatous polyposis 3 [RCV003458213]|Hereditary cancer-predisposing syndrome [RCV001011341]|not provided [RCV000808897] Chr16:2046367 [GRCh38]
Chr16:2096368 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.395G>C (p.Ser132Thr) single nucleotide variant not provided [RCV000805617] Chr16:2044760 [GRCh38]
Chr16:2094761 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.685+5G>C single nucleotide variant not provided [RCV000822105] Chr16:2043562 [GRCh38]
Chr16:2093563 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV003458215]|Hereditary cancer-predisposing syndrome [RCV002363103]|not provided [RCV000811739] Chr16:2043648 [GRCh38]
Chr16:2093649 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.334G>A (p.Asp112Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257986]|not provided [RCV000820392] Chr16:2046148 [GRCh38]
Chr16:2096149 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.193A>G (p.Ser65Gly) single nucleotide variant not provided [RCV000820414] Chr16:2046289 [GRCh38]
Chr16:2096290 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.344C>T (p.Ala115Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569605]|Hereditary cancer-predisposing syndrome [RCV002345803]|not provided [RCV000804052] Chr16:2046138 [GRCh38]
Chr16:2096139 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.152G>A (p.Arg51Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013093]|not provided [RCV000805683] Chr16:2046330 [GRCh38]
Chr16:2096331 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.457G>T (p.Val153Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467412]|Hereditary cancer-predisposing syndrome [RCV002336636]|not provided [RCV000805696] Chr16:2044698 [GRCh38]
Chr16:2094699 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.768C>T (p.Ala256=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416185]|not provided [RCV000938028] Chr16:2040156 [GRCh38]
Chr16:2090157 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.446G>A (p.Arg149Gln) single nucleotide variant Familial adenomatous polyposis 3 [RCV003461109]|Hereditary cancer-predisposing syndrome [RCV002256512]|not provided [RCV000799034] Chr16:2044709 [GRCh38]
Chr16:2094710 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.823G>A (p.Val275Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017881]|not provided [RCV000802310] Chr16:2040016 [GRCh38]
Chr16:2090017 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV003458217]|Hereditary cancer-predisposing syndrome [RCV004029040]|not provided [RCV000820504] Chr16:2046322 [GRCh38]
Chr16:2096323 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.47G>C (p.Gly16Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370084]|not provided [RCV000795884] Chr16:2047777 [GRCh38]
Chr16:2097778 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.252G>C (p.Trp84Cys) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569680]|Hereditary cancer-predisposing syndrome [RCV002255533]|not provided [RCV000812392] Chr16:2046230 [GRCh38]
Chr16:2096231 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.488C>T (p.Thr163Met) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467490]|Hereditary cancer-predisposing syndrome [RCV002345882]|NTHL1-related disorder [RCV004751737]|not provided [RCV000818852] Chr16:2044667 [GRCh38]
Chr16:2094668 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.81G>C (p.Glu27Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397717]|not provided [RCV000820565] Chr16:2047743 [GRCh38]
Chr16:2097744 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.115+1G>A single nucleotide variant Familial adenomatous polyposis 3 [RCV000989411]|Hereditary cancer-predisposing syndrome [RCV001011335]|not provided [RCV000813400] Chr16:2047708 [GRCh38]
Chr16:2097709 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.682A>G (p.Ile228Val) single nucleotide variant not provided [RCV000815803] Chr16:2043570 [GRCh38]
Chr16:2093571 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.889C>G (p.Leu297Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370108]|not provided [RCV000799505] Chr16:2039950 [GRCh38]
Chr16:2089951 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.68G>A (p.Gly23Glu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467494]|Hereditary cancer-predisposing syndrome [RCV002372336]|not provided [RCV000819939] Chr16:2047756 [GRCh38]
Chr16:2097757 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.50C>A (p.Pro17His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388469]|not provided [RCV000799812] Chr16:2047774 [GRCh38]
Chr16:2097775 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.421G>A (p.Gly141Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569718]|Hereditary cancer-predisposing syndrome [RCV002332684]|not provided [RCV000816444] Chr16:2044734 [GRCh38]
Chr16:2094735 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.700G>A (p.Val234Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307455]|not provided [RCV000800137] Chr16:2040224 [GRCh38]
Chr16:2090225 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.36C>T (p.Ser12=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257995]|not provided [RCV000841459] Chr16:2047788 [GRCh38]
Chr16:2097789 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.686-7C>G single nucleotide variant not provided [RCV000806451] Chr16:2040245 [GRCh38]
Chr16:2090246 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.766G>A (p.Ala256Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422713]|not provided [RCV000796867] Chr16:2040158 [GRCh38]
Chr16:2090159 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.525+1G>A single nucleotide variant not provided [RCV000813282] Chr16:2044629 [GRCh38]
Chr16:2094630 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.686-9T>C single nucleotide variant not provided [RCV000796981] Chr16:2040247 [GRCh38]
Chr16:2090248 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.446G>C (p.Arg149Pro) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569730]|Hereditary cancer-predisposing syndrome [RCV001022934]|not provided [RCV000817467] Chr16:2044709 [GRCh38]
Chr16:2094710 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.350C>T (p.Pro117Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467499]|Hereditary cancer-predisposing syndrome [RCV001021037]|not provided [RCV000820715]|not specified [RCV003321751] Chr16:2046132 [GRCh38]
Chr16:2096133 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.6(NTHL1):c.8G>C (p.Ser3Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370075]|not provided [RCV000794390] Chr16:2047840 [GRCh38]
Chr16:2097841 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.14G>C (p.Ser5Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257974]|not provided [RCV000807679] Chr16:2047810 [GRCh38]
Chr16:2097811 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.712G>A (p.Ala238Thr) single nucleotide variant Familial adenomatous polyposis 3 [RCV003461127]|Hereditary cancer-predisposing syndrome [RCV001026335]|NTHL1-related disorder [RCV003928275]|not provided [RCV000801248] Chr16:2040212 [GRCh38]
Chr16:2090213 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.511G>C (p.Val171Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467518]|Hereditary cancer-predisposing syndrome [RCV002345912]|not provided [RCV000823489] Chr16:2044644 [GRCh38]
Chr16:2094645 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.350dup (p.Val119fs) duplication Familial adenomatous polyposis 3 [RCV003458216]|Hereditary cancer-predisposing syndrome [RCV002363139]|not provided [RCV000817862] Chr16:2046131..2046132 [GRCh38]
Chr16:2096132..2096133 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.797T>C (p.Leu266Pro) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569616]|Hereditary cancer-predisposing syndrome [RCV002424866]|not provided [RCV000804692] Chr16:2040042 [GRCh38]
Chr16:2090043 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.96G>C (p.Arg32=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004029239]|not provided [RCV000842410] Chr16:2047728 [GRCh38]
Chr16:2097729 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.-9G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397741]|not provided [RCV000823897] Chr16:2047832 [GRCh38]
Chr16:2097833 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys) single nucleotide variant Familial adenomatous polyposis 3 [RCV001789784]|Hereditary cancer-predisposing syndrome [RCV001026902]|not provided [RCV000814330] Chr16:2040161 [GRCh38]
Chr16:2090162 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.625G>A (p.Val209Ile) single nucleotide variant Familial adenomatous polyposis 3 [RCV003461289]|Hereditary cancer-predisposing syndrome [RCV002256555]|not provided [RCV000824271] Chr16:2043627 [GRCh38]
Chr16:2093628 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.703C>T (p.His235Tyr) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467339]|Hereditary cancer-predisposing syndrome [RCV002386390]|not provided [RCV000794237] Chr16:2040221 [GRCh38]
Chr16:2090222 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.652A>G (p.Met218Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467389]|Hereditary cancer-predisposing syndrome [RCV001025626]|NTHL1-related disorder [RCV003928276]|not provided [RCV000802228] Chr16:2043600 [GRCh38]
Chr16:2093601 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.149C>T (p.Pro50Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV001535481]|Hereditary cancer-predisposing syndrome [RCV001012937]|not provided [RCV000794648] Chr16:2046333 [GRCh38]
Chr16:2096334 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr) single nucleotide variant Familial adenomatous polyposis 3 [RCV002291703]|Hereditary cancer-predisposing syndrome [RCV001026979]|NTHL1-related disorder [RCV004751726]|not provided [RCV000811178]|not specified [RCV003320216] Chr16:2040155 [GRCh38]
Chr16:2090156 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.349C>T (p.Pro117Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV003472343]|Hereditary cancer-predisposing syndrome [RCV001021012]|NTHL1-related disorder [RCV004751707]|not provided [RCV000794718] Chr16:2046133 [GRCh38]
Chr16:2096134 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.44T>C (p.Leu15Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025785]|NTHL1-related disorder [RCV003396450]|not provided [RCV000822008] Chr16:2047780 [GRCh38]
Chr16:2097781 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.275G>A (p.Arg92His) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569588]|Hereditary cancer-predisposing syndrome [RCV001017892]|Lymphangiomyomatosis [RCV002501079]|NTHL1-related disorder [RCV004751716]|not provided [RCV000802521]|not specified [RCV002268292] Chr16:2046207 [GRCh38]
Chr16:2096208 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.20G>C (p.Arg7Thr) single nucleotide variant Familial adenomatous polyposis 3 [RCV002478924]|Hereditary cancer-predisposing syndrome [RCV002255542]|NTHL1-related disorder [RCV003396453]|not provided [RCV000822195]|not specified [RCV003493744] Chr16:2047804 [GRCh38]
Chr16:2097805 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.431A>G (p.Gln144Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166170]|not provided [RCV000798856] Chr16:2044724 [GRCh38]
Chr16:2094725 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.354+30dup duplication not provided [RCV000839417]|not specified [RCV002268337] Chr16:2046092..2046093 [GRCh38]
Chr16:2096093..2096094 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_002528.7(NTHL1):c.604G>A (p.Glu202Lys) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467344]|Hereditary cancer-predisposing syndrome [RCV002256505]|not provided [RCV000795061]|not specified [RCV004596347] Chr16:2043648 [GRCh38]
Chr16:2093649 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.119C>T (p.Ala40Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003461187]|Hereditary cancer-predisposing syndrome [RCV001011586]|not provided [RCV000809621] Chr16:2046363 [GRCh38]
Chr16:2096364 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.784C>G (p.Leu262Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV004570229]|Hereditary cancer-predisposing syndrome [RCV002418506]|not provided [RCV001057748] Chr16:2040140 [GRCh38]
Chr16:2090141 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.468C>T (p.Ile156=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023276]|not provided [RCV001473380] Chr16:2044687 [GRCh38]
Chr16:2094688 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.655G>C (p.Ala219Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363093]|not provided [RCV000810584] Chr16:2043597 [GRCh38]
Chr16:2093598 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.73A>T (p.Arg25Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381801]|not provided [RCV000810751] Chr16:2047751 [GRCh38]
Chr16:2097752 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.401C>T (p.Thr134Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332599]|not provided [RCV000795750] Chr16:2044754 [GRCh38]
Chr16:2094755 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.460del (p.Asp154fs) deletion Familial adenomatous polyposis 3 [RCV003458211]|Hereditary cancer-predisposing syndrome [RCV002332650]|not provided [RCV000806724] Chr16:2044695 [GRCh38]
Chr16:2094696 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.105G>C (p.Glu35Asp) single nucleotide variant Familial adenomatous polyposis 3 [RCV003325217]|not provided [RCV000806754] Chr16:2047719 [GRCh38]
Chr16:2097720 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.748T>A (p.Ser250Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026764]|NTHL1-related disorder [RCV004751727]|not provided [RCV000812645] Chr16:2040176 [GRCh38]
Chr16:2090177 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.62C>T (p.Pro21Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003362963]|not provided [RCV000808163] Chr16:2047762 [GRCh38]
Chr16:2097763 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.661G>T (p.Ala221Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467444]|Hereditary cancer-predisposing syndrome [RCV002363094]|not provided [RCV000810736] Chr16:2043591 [GRCh38]
Chr16:2093592 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.547C>T (p.Gln183Ter) single nucleotide variant not provided [RCV001052800] Chr16:2043705 [GRCh38]
Chr16:2093706 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.6(NTHL1):c.5G>A (p.Cys2Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352373]|not provided [RCV000803833] Chr16:2047843 [GRCh38]
Chr16:2097844 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.804C>G (p.His268Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424810]|not provided [RCV000794651] Chr16:2040035 [GRCh38]
Chr16:2090036 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.194G>A (p.Ser65Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422698]|not provided [RCV000794751] Chr16:2046288 [GRCh38]
Chr16:2096289 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.42C>G (p.Ser14Arg) single nucleotide variant not provided [RCV001054556] Chr16:2047782 [GRCh38]
Chr16:2097783 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.348C>T (p.Pro116=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020990]|not provided [RCV002069008] Chr16:2046134 [GRCh38]
Chr16:2096135 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.6(NTHL1):c.1A>G (p.Met1Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013979]|not provided [RCV000811579] Chr16:2047847 [GRCh38]
Chr16:2097848 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.89C>G (p.Pro30Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009990]|not provided [RCV000809382] Chr16:2047735 [GRCh38]
Chr16:2097736 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.7G>T (p.Ala3Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV003133619]|Hereditary cancer-predisposing syndrome [RCV001019155]|not provided [RCV000798390] Chr16:2047817 [GRCh38]
Chr16:2097818 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NC_000016.9:g.(?_2089915)_(2110824_?)dup duplication Tuberous sclerosis 2 [RCV000821273] Chr16:2039914..2060823 [GRCh38]
Chr16:2089915..2110824 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.455C>A (p.Thr152Lys) single nucleotide variant Familial adenomatous polyposis 3 [RCV002290452]|Hereditary cancer-predisposing syndrome [RCV002336641]|not provided [RCV000806725] Chr16:2044700 [GRCh38]
Chr16:2094701 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV003458214]|Hereditary cancer-predisposing syndrome [RCV001023343]|not provided [RCV000810184] Chr16:2044683 [GRCh38]
Chr16:2094684 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.802C>T (p.His268Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406832]|not provided [RCV000812351] Chr16:2040037 [GRCh38]
Chr16:2090038 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.392C>T (p.Ser131Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332611]|not provided [RCV000798514] Chr16:2044763 [GRCh38]
Chr16:2094764 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.731C>G (p.Thr244Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569579]|Hereditary cancer-predisposing syndrome [RCV001026563]|not provided [RCV000801792] Chr16:2040193 [GRCh38]
Chr16:2090194 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.268A>G (p.Asn90Asp) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467487]|Hereditary cancer-predisposing syndrome [RCV001017522]|not provided [RCV000818344] Chr16:2046214 [GRCh38]
Chr16:2096215 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.332A>G (p.Tyr111Cys) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467387]|Hereditary cancer-predisposing syndrome [RCV002256518]|not provided [RCV000801950]|not specified [RCV003321744] Chr16:2046150 [GRCh38]
Chr16:2096151 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.807G>A (p.Glu269=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427426]|not provided [RCV000980024] Chr16:2040032 [GRCh38]
Chr16:2090033 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.7G>A (p.Ala3Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325530]|not provided [RCV000798868]|not specified [RCV003320213] Chr16:2047817 [GRCh38]
Chr16:2097818 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.356_359dup (p.Arg121fs) duplication Familial adenomatous polyposis 3 [RCV003458207]|Hereditary cancer-predisposing syndrome [RCV002352342]|not provided [RCV000798872] Chr16:2044795..2044796 [GRCh38]
Chr16:2094796..2094797 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.46G>C (p.Gly16Arg) single nucleotide variant Familial adenomatous polyposis 3 [RCV001294000]|Hereditary cancer-predisposing syndrome [RCV002255539]|not provided [RCV000818618] Chr16:2047778 [GRCh38]
Chr16:2097779 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.370G>T (p.Val124Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021501]|not provided [RCV000802241] Chr16:2044785 [GRCh38]
Chr16:2094786 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.439C>T (p.Arg147Trp) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569543]|Hereditary cancer-predisposing syndrome [RCV002259018]|not provided [RCV000796472] Chr16:2044716 [GRCh38]
Chr16:2094717 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.242C>T (p.Pro81Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467357]|Hereditary cancer-predisposing syndrome [RCV001016262]|NTHL1-related disorder [RCV003413596]|not provided [RCV000796495] Chr16:2046240 [GRCh38]
Chr16:2096241 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.354+2T>C single nucleotide variant Familial adenomatous polyposis 3 [RCV003458210]|not provided [RCV000805618] Chr16:2046126 [GRCh38]
Chr16:2096127 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.731C>T (p.Thr244Ile) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467510]|Hereditary cancer-predisposing syndrome [RCV002390698]|not provided [RCV000822251] Chr16:2040193 [GRCh38]
Chr16:2090194 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.696G>A (p.Thr232=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372619]|not provided [RCV000939744] Chr16:2040228 [GRCh38]
Chr16:2090229 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.589C>G (p.Pro197Ala) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569687]|Hereditary cancer-predisposing syndrome [RCV003353048]|not provided [RCV000813038] Chr16:2043663 [GRCh38]
Chr16:2093664 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.102A>T (p.Arg34Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569591]|Hereditary cancer-predisposing syndrome [RCV001010673]|not provided [RCV000802631] Chr16:2047722 [GRCh38]
Chr16:2097723 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.85G>A (p.Gly29Arg) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569771]|Hereditary cancer-predisposing syndrome [RCV002256547]|NTHL1-related disorder [RCV004751746]|not provided [RCV000822332]|not specified [RCV001816908] Chr16:2047739 [GRCh38]
Chr16:2097740 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.150G>A (p.Pro50=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256626]|not provided [RCV000939120] Chr16:2046332 [GRCh38]
Chr16:2096333 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.103G>C (p.Glu35Gln) single nucleotide variant Familial adenomatous polyposis 3 [RCV003461171]|Hereditary cancer-predisposing syndrome [RCV001010720]|not provided [RCV000807595] Chr16:2047721 [GRCh38]
Chr16:2097722 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NC_000016.9:g.(?_2089915)_(2138621_?)dup duplication Tuberous sclerosis 2 [RCV000795442] Chr16:2039914..2088620 [GRCh38]
Chr16:2089915..2138621 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.611T>G (p.Val204Gly) single nucleotide variant not provided [RCV000802829] Chr16:2043641 [GRCh38]
Chr16:2093642 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467393]|Hereditary cancer-predisposing syndrome [RCV001024999]|NTHL1-related disorder [RCV003947990]|not provided [RCV000802855] Chr16:2047787 [GRCh38]
Chr16:2097788 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.423C>T (p.Gly141=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022546]|not provided [RCV000939974] Chr16:2044732 [GRCh38]
Chr16:2094733 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.499C>G (p.Leu167Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003461175]|not provided [RCV000807961] Chr16:2044656 [GRCh38]
Chr16:2094657 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.440G>A (p.Arg147Gln) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569530]|Hereditary cancer-predisposing syndrome [RCV002334474]|not provided [RCV000794553] Chr16:2044715 [GRCh38]
Chr16:2094716 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.91C>T (p.Leu31Phe) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569715]|Hereditary cancer-predisposing syndrome [RCV002257982]|not provided [RCV000815980] Chr16:2047733 [GRCh38]
Chr16:2097734 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.434G>T (p.Arg145Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336689]|not provided [RCV000816025] Chr16:2044721 [GRCh38]
Chr16:2094722 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.32G>A (p.Arg11Gln) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467330]|Hereditary cancer-predisposing syndrome [RCV001024430]|not provided [RCV000792050] Chr16:2047792 [GRCh38]
Chr16:2097793 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.259C>T (p.Gln87Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003362964]|not provided [RCV000808595] Chr16:2046223 [GRCh38]
Chr16:2096224 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.269A>T (p.Asn90Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440752]|not provided [RCV000811253] Chr16:2046213 [GRCh38]
Chr16:2096214 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.126A>T (p.Lys42Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388499]|not provided [RCV000803402] Chr16:2046356 [GRCh38]
Chr16:2096357 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.443C>T (p.Ala148Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467360]|Hereditary cancer-predisposing syndrome [RCV002334490]|NTHL1-related disorder [RCV003411752]|not provided [RCV000796990]|not specified [RCV003321737] Chr16:2044712 [GRCh38]
Chr16:2094713 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.151C>T (p.Arg51Trp) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467468]|Hereditary cancer-predisposing syndrome [RCV001013001]|NTHL1-related disorder [RCV004751728]|not provided [RCV000813521] Chr16:2046331 [GRCh38]
Chr16:2096332 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.901G>A (p.Ala301Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442653]|not provided [RCV000800193] Chr16:2039938 [GRCh38]
Chr16:2089939 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.747G>C (p.Lys249Asn) single nucleotide variant not provided [RCV000800260] Chr16:2040177 [GRCh38]
Chr16:2090178 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.246_247delinsAT (p.Asp83Tyr) indel Hereditary cancer-predisposing syndrome [RCV002424861]|not provided [RCV000803580] Chr16:2046235..2046236 [GRCh38]
Chr16:2096236..2096237 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.235T>G (p.Trp79Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004028727]|not provided [RCV000811448] Chr16:2046247 [GRCh38]
Chr16:2096248 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.58G>A (p.Gly20Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027384]|not provided [RCV000809021] Chr16:2047766 [GRCh38]
Chr16:2097767 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.416C>T (p.Thr139Met) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467431]|Hereditary cancer-predisposing syndrome [RCV001022441]|not provided [RCV000809098] Chr16:2044739 [GRCh38]
Chr16:2094740 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.556G>A (p.Ala186Thr) single nucleotide variant Familial adenomatous polyposis 3 [RCV004771486]|Hereditary cancer-predisposing syndrome [RCV002352311]|not provided [RCV000792690] Chr16:2043696 [GRCh38]
Chr16:2093697 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.831C>T (p.Phe277=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442772]|not provided [RCV000827272] Chr16:2040008 [GRCh38]
Chr16:2090009 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.29C>G (p.Thr10Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467472]|Hereditary cancer-predisposing syndrome [RCV001024035]|not provided [RCV000814011]|not specified [RCV004596353] Chr16:2047795 [GRCh38]
Chr16:2097796 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.353A>T (p.Lys118Met) single nucleotide variant not provided [RCV000797657] Chr16:2046129 [GRCh38]
Chr16:2096130 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.139G>A (p.Val47Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255529]|NTHL1-related disorder [RCV003947993]|not provided [RCV000804043] Chr16:2046343 [GRCh38]
Chr16:2096344 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.31C>T (p.Arg11Trp) single nucleotide variant Familial adenomatous polyposis 3 [RCV002478928]|Hereditary cancer-predisposing syndrome [RCV001024310]|not provided [RCV000823099] Chr16:2047793 [GRCh38]
Chr16:2097794 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.476C>T (p.Thr159Ile) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467516]|Hereditary cancer-predisposing syndrome [RCV002336719]|not provided [RCV000823124] Chr16:2044679 [GRCh38]
Chr16:2094680 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.792-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027234]|NTHL1-related disorder [RCV003958053]|not provided [RCV000896292]|not specified [RCV002479026] Chr16:2040050 [GRCh38]
Chr16:2090051 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.743C>G (p.Thr248Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397568]|not provided [RCV000792812] Chr16:2040181 [GRCh38]
Chr16:2090182 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.358C>G (p.Arg120Gly) single nucleotide variant Familial adenomatous polyposis 3 [RCV003153859]|Hereditary cancer-predisposing syndrome [RCV001021245]|not provided [RCV000817334] Chr16:2044797 [GRCh38]
Chr16:2094798 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.491T>C (p.Leu164Pro) single nucleotide variant Familial adenomatous polyposis 3 [RCV003461125]|Hereditary cancer-predisposing syndrome [RCV002336604]|not provided [RCV000800987] Chr16:2044664 [GRCh38]
Chr16:2094665 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs) microsatellite Familial adenomatous polyposis 3 [RCV003458218]|Hereditary cancer-predisposing syndrome [RCV002332722]|not provided [RCV000823544] Chr16:2044763..2044764 [GRCh38]
Chr16:2094764..2094765 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.583G>A (p.Asp195Asn) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569699]|Hereditary cancer-predisposing syndrome [RCV001024871]|not provided [RCV000814427] Chr16:2043669 [GRCh38]
Chr16:2093670 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.577G>A (p.Gly193Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV003153862]|Hereditary cancer-predisposing syndrome [RCV001024816]|not provided [RCV000817579]|not specified [RCV002268310] Chr16:2043675 [GRCh38]
Chr16:2093676 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.346C>A (p.Pro116Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020940]|not provided [RCV000804461] Chr16:2046136 [GRCh38]
Chr16:2096137 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.686-99G>A single nucleotide variant not provided [RCV000839475] Chr16:2040337 [GRCh38]
Chr16:2090338 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.792-3C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422705]|not provided [RCV000795639] Chr16:2040050 [GRCh38]
Chr16:2090051 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.877C>G (p.Leu293Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003461223]|Hereditary cancer-predisposing syndrome [RCV001018659]|not provided [RCV000814532] Chr16:2039962 [GRCh38]
Chr16:2089963 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.-8A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258118]|not provided [RCV001060151] Chr16:2047831 [GRCh38]
Chr16:2097832 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3 copy number gain not provided [RCV000845878] Chr16:2070917..2592737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.677C>T (p.Ser226Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467778]|Hereditary cancer-predisposing syndrome [RCV002258111]|not provided [RCV001055126] Chr16:2043575 [GRCh38]
Chr16:2093576 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.232G>C (p.Val78Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307879]|not provided [RCV001056028] Chr16:2046250 [GRCh38]
Chr16:2096251 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.15C>A (p.Ser5Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021615]|not provided [RCV001044455] Chr16:2047809 [GRCh38]
Chr16:2097810 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.390C>G (p.Leu130=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021951]|not provided [RCV001416922] Chr16:2044765 [GRCh38]
Chr16:2094766 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.350C>A (p.Pro117Gln) single nucleotide variant Familial adenomatous polyposis 3 [RCV004570255]|Hereditary cancer-predisposing syndrome [RCV002348448]|not provided [RCV001062099] Chr16:2046132 [GRCh38]
Chr16:2096133 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_1523498)_(2064447_?)del deletion Tuberous sclerosis 2 [RCV001032344] Chr16:1573499..2114448 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.555C>T (p.Ser185=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024538]|not provided [RCV000936266] Chr16:2043697 [GRCh38]
Chr16:2093698 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.483T>C (p.Asp161=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336959]|not provided [RCV000937354] Chr16:2044672 [GRCh38]
Chr16:2094673 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.26T>C (p.Leu9Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023546]|not provided [RCV001766854] Chr16:2047798 [GRCh38]
Chr16:2097799 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.15C>G (p.Ser5Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374926]|not provided [RCV001055224] Chr16:2047809 [GRCh38]
Chr16:2097810 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.815G>C (p.Gly272Ala) single nucleotide variant not provided [RCV001056622] Chr16:2040024 [GRCh38]
Chr16:2090025 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.445dup (p.Arg149fs) duplication Hereditary cancer-predisposing syndrome [RCV001022918]|not provided [RCV003718309] Chr16:2044709..2044710 [GRCh38]
Chr16:2094710..2094711 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.357A>C (p.Val119=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021225]|not provided [RCV001463588] Chr16:2044798 [GRCh38]
Chr16:2094799 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.358C>A (p.Arg120Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021244]|not provided [RCV003679028] Chr16:2044797 [GRCh38]
Chr16:2094798 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.493G>A (p.Gly165Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV004570629]|Hereditary cancer-predisposing syndrome [RCV003365289]|not provided [RCV001246186] Chr16:2044662 [GRCh38]
Chr16:2094663 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.761C>T (p.Thr254Ile) single nucleotide variant Familial adenomatous polyposis 3 [RCV003469341]|Hereditary cancer-predisposing syndrome [RCV004649488]|not provided [RCV001208207] Chr16:2040163 [GRCh38]
Chr16:2090164 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.-11A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393468]|not provided [RCV001208529] Chr16:2047834 [GRCh38]
Chr16:2097835 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.17C>A (p.Ala6Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004033896]|not provided [RCV001213594] Chr16:2047807 [GRCh38]
Chr16:2097808 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.94C>G (p.Arg32Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339660]|not provided [RCV001238757] Chr16:2047730 [GRCh38]
Chr16:2097731 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.686-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002365947]|not provided [RCV001210584] Chr16:2040241 [GRCh38]
Chr16:2090242 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.374T>C (p.Leu125Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004649513]|not provided [RCV001222754] Chr16:2044781 [GRCh38]
Chr16:2094782 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.685+5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366010]|not provided [RCV001224203] Chr16:2043562 [GRCh38]
Chr16:2093563 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.440G>C (p.Arg147Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327528]|not provided [RCV001222990] Chr16:2044715 [GRCh38]
Chr16:2094716 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.487_505delinsC (p.Thr163_Tyr169delinsHis) indel Hereditary cancer-predisposing syndrome [RCV002339672]|not provided [RCV001242759] Chr16:2044650..2044668 [GRCh38]
Chr16:2094651..2094669 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.254A>T (p.Gln85Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003353232]|not provided [RCV001231831] Chr16:2046228 [GRCh38]
Chr16:2096229 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.74G>T (p.Arg25Met) single nucleotide variant not provided [RCV001224653] Chr16:2047750 [GRCh38]
Chr16:2097751 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.869A>G (p.His290Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375199]|not provided [RCV001220479] Chr16:2039970 [GRCh38]
Chr16:2089971 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.670A>C (p.Thr224Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366058]|NTHL1-related disorder [RCV004731108]|not provided [RCV001240161] Chr16:2043582 [GRCh38]
Chr16:2093583 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.387G>A (p.Met129Ile) single nucleotide variant not provided [RCV001227181] Chr16:2044768 [GRCh38]
Chr16:2094769 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.449G>T (p.Gly150Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339571]|not provided [RCV001218094] Chr16:2044706 [GRCh38]
Chr16:2094707 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001227472] Chr16:2047823 [GRCh38]
Chr16:2097824 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.2T>C (p.Met1Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436967]|not provided [RCV001245877] Chr16:2047822 [GRCh38]
Chr16:2097823 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.224A>C (p.Lys75Thr) single nucleotide variant not provided [RCV001218461] Chr16:2046258 [GRCh38]
Chr16:2096259 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.287A>G (p.Asn96Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294055]|not provided [RCV001218531] Chr16:2046195 [GRCh38]
Chr16:2096196 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.237G>C (p.Trp79Cys) single nucleotide variant not provided [RCV001219220] Chr16:2046245 [GRCh38]
Chr16:2096246 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.713C>T (p.Ala238Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003462745]|Hereditary cancer-predisposing syndrome [RCV002379826]|not provided [RCV001219222] Chr16:2040211 [GRCh38]
Chr16:2090212 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.182A>G (p.Glu61Gly) single nucleotide variant not provided [RCV001247492] Chr16:2046300 [GRCh38]
Chr16:2096301 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.296A>C (p.Asp99Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322061]|not provided [RCV001219533] Chr16:2046186 [GRCh38]
Chr16:2096187 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.434G>A (p.Arg145Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022746]|not provided [RCV001065539] Chr16:2044721 [GRCh38]
Chr16:2094722 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.673G>A (p.Val225Met) single nucleotide variant Familial adenomatous polyposis 3 [RCV003230278]|Hereditary cancer-predisposing syndrome [RCV002374956]|not provided [RCV001061913] Chr16:2043579 [GRCh38]
Chr16:2093580 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.342T>G (p.Ser114Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348700]|not provided [RCV001212455] Chr16:2046140 [GRCh38]
Chr16:2096141 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.629G>C (p.Gly210Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002365904]|not provided [RCV001201912] Chr16:2043623 [GRCh38]
Chr16:2093624 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.82C>A (p.Pro28Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003162124]|not provided [RCV003104727] Chr16:2047742 [GRCh38]
Chr16:2097743 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2089925)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV003105246] Chr16:2089925..2115656 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2093558)_(2130388_?)del deletion Tuberous sclerosis 2 [RCV003105247] Chr16:2093558..2130388 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2089925)_(2094811_?)dup duplication not provided [RCV003107710] Chr16:2089925..2094811 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2093854)_(2096278_?)del deletion not provided [RCV003107711] Chr16:2093854..2096278 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.42_43del (p.Leu15fs) deletion Hereditary cancer-predisposing syndrome [RCV003293266] Chr16:2047781..2047782 [GRCh38]
Chr16:2097782..2097783 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.355-277G>A single nucleotide variant not provided [RCV001589327] Chr16:2045077 [GRCh38]
Chr16:2095078 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.*6G>T single nucleotide variant not provided [RCV001587108] Chr16:2039918 [GRCh38]
Chr16:2089919 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.115+4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388611]|not provided [RCV001584661] Chr16:2047705 [GRCh38]
Chr16:2097706 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.234C>G (p.Val78=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004030007]|not provided [RCV000978047] Chr16:2046248 [GRCh38]
Chr16:2096249 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.174G>A (p.Val58=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013966]|not provided [RCV000940324]|not specified [RCV003321768] Chr16:2046308 [GRCh38]
Chr16:2096309 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.684T>C (p.Ile228=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004030082]|not provided [RCV000983606] Chr16:2043568 [GRCh38]
Chr16:2093569 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.456G>T (p.Thr152=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336975]|not provided [RCV000940961] Chr16:2044699 [GRCh38]
Chr16:2094700 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.120G>A (p.Ala40=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390942]|not provided [RCV000930550]|not specified [RCV002268358] Chr16:2046362 [GRCh38]
Chr16:2096363 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.534G>A (p.Val178=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346138]|not provided [RCV000941139] Chr16:2043718 [GRCh38]
Chr16:2093719 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.699T>C (p.His233=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026189]|not provided [RCV000938267] Chr16:2040225 [GRCh38]
Chr16:2090226 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.615G>A (p.Ala205=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363413]|not provided [RCV000936526] Chr16:2043637 [GRCh38]
Chr16:2093638 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.189G>A (p.Ser63=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258066]|not provided [RCV000941315] Chr16:2046293 [GRCh38]
Chr16:2096294 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.222C>G (p.Leu74=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015456]|not provided [RCV000936674]|not specified [RCV003151224] Chr16:2046260 [GRCh38]
Chr16:2096261 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011260]|not provided [RCV000961022]|not specified [RCV002268378] Chr16:2047711 [GRCh38]
Chr16:2097712 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.355-4G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307712]|not provided [RCV000932691] Chr16:2044804 [GRCh38]
Chr16:2094805 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.804C>T (p.His268=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427348]|not provided [RCV000938932] Chr16:2040035 [GRCh38]
Chr16:2090036 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.264G>A (p.Leu88=) single nucleotide variant not provided [RCV000975783] Chr16:2046218 [GRCh38]
Chr16:2096219 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.771C>T (p.Ala257=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416207]|not provided [RCV000941424] Chr16:2040153 [GRCh38]
Chr16:2090154 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.74G>A (p.Arg25Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019876]|NTHL1-related disorder [RCV003955796]|not provided [RCV000879706]|not specified [RCV003321759] Chr16:2047750 [GRCh38]
Chr16:2097751 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.355-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004029653]|not provided [RCV000937256] Chr16:2044804 [GRCh38]
Chr16:2094805 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.66G>A (p.Arg22=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018852]|not provided [RCV000981227] Chr16:2047758 [GRCh38]
Chr16:2097759 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.743C>T (p.Thr248Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026705]|not provided [RCV000937365] Chr16:2040181 [GRCh38]
Chr16:2090182 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.273C>T (p.Ile91=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017757]|not provided [RCV000938455]|not specified [RCV003321766] Chr16:2046209 [GRCh38]
Chr16:2096210 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.264G>T (p.Leu88=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255582]|not provided [RCV000932912] Chr16:2046218 [GRCh38]
Chr16:2096219 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.111A>G (p.Ala37=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382151]|not provided [RCV000940366] Chr16:2047713 [GRCh38]
Chr16:2097714 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_002528.7(NTHL1):c.686-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363368]|not provided [RCV000916805] Chr16:2040242 [GRCh38]
Chr16:2090243 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.66G>T (p.Arg22=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372688]|not provided [RCV000978921] Chr16:2047758 [GRCh38]
Chr16:2097759 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.93C>T (p.Leu31=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336972]|not provided [RCV000940621] Chr16:2047731 [GRCh38]
Chr16:2097732 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.665G>A (p.Trp222Ter) single nucleotide variant not provided [RCV001219000] Chr16:2043587 [GRCh38]
Chr16:2093588 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.354+5G>A single nucleotide variant Familial adenomatous polyposis 3 [RCV003469363]|not provided [RCV001214455] Chr16:2046123 [GRCh38]
Chr16:2096124 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.389T>C (p.Leu130Pro) single nucleotide variant not provided [RCV001203538] Chr16:2044766 [GRCh38]
Chr16:2094767 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.80delinsGG (p.Glu27fs) indel Familial adenomatous polyposis 3 [RCV003458312]|Hereditary cancer-predisposing syndrome [RCV004636743] Chr16:2047744 [GRCh38]
Chr16:2097745 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.58G>C (p.Gly20Arg) single nucleotide variant not provided [RCV001203610] Chr16:2047766 [GRCh38]
Chr16:2097767 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.791+6A>G single nucleotide variant not provided [RCV001227143] Chr16:2040127 [GRCh38]
Chr16:2090128 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.508C>T (p.Pro170Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348707]|not provided [RCV001213444] Chr16:2044647 [GRCh38]
Chr16:2094648 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.52G>A (p.Gly18Arg) single nucleotide variant not provided [RCV001239786] Chr16:2047772 [GRCh38]
Chr16:2097773 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.178T>C (p.Tyr60His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418667]|not provided [RCV001202509] Chr16:2046304 [GRCh38]
Chr16:2096305 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.170G>T (p.Arg57Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003469267]|Hereditary cancer-predisposing syndrome [RCV002418558]|not provided [RCV001071040] Chr16:2046312 [GRCh38]
Chr16:2096313 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.504C>G (p.Ile168Met) single nucleotide variant not provided [RCV001245393] Chr16:2044651 [GRCh38]
Chr16:2094652 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.192C>G (p.Asp64Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003365288]|not provided [RCV001245412] Chr16:2046290 [GRCh38]
Chr16:2096291 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.115+6G>C single nucleotide variant not provided [RCV001216923] Chr16:2047703 [GRCh38]
Chr16:2097704 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.181G>C (p.Glu61Gln) single nucleotide variant Familial adenomatous polyposis 3 [RCV004570542]|Hereditary cancer-predisposing syndrome [RCV002418773]|not provided [RCV001223824] Chr16:2046301 [GRCh38]
Chr16:2096302 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.326A>G (p.His109Arg) single nucleotide variant not provided [RCV001054645] Chr16:2046156 [GRCh38]
Chr16:2096157 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.755A>C (p.Glu252Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411865]|not provided [RCV001234259] Chr16:2040169 [GRCh38]
Chr16:2090170 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_2039924)_(2060823_?)dup duplication not provided [RCV001031073] Chr16:2089925..2110824 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.538T>C (p.Tyr180His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004034768]|not provided [RCV001243945] Chr16:2043714 [GRCh38]
Chr16:2093715 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.887C>T (p.Ala296Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003469466]|Hereditary cancer-predisposing syndrome [RCV002375292]|not provided [RCV001243959] Chr16:2039952 [GRCh38]
Chr16:2089953 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.14G>A (p.Ser5Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002365712]|not provided [RCV001056296] Chr16:2047810 [GRCh38]
Chr16:2097811 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.725G>C (p.Arg242Thr) single nucleotide variant not provided [RCV001224848] Chr16:2040199 [GRCh38]
Chr16:2090200 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.622G>A (p.Gly208Ser) single nucleotide variant not provided [RCV001221197] Chr16:2043630 [GRCh38]
Chr16:2093631 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2092335-2112105) copy number loss Polycystic kidney disease, adult type [RCV001030059] Chr16:2092335..2112105 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.526-8T>A single nucleotide variant not provided [RCV001217987] Chr16:2043734 [GRCh38]
Chr16:2093735 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.123G>T (p.Arg41Ser) single nucleotide variant not provided [RCV001218029] Chr16:2046359 [GRCh38]
Chr16:2096360 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.131A>G (p.His44Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402677]|not provided [RCV001221499] Chr16:2046351 [GRCh38]
Chr16:2096352 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.417G>A (p.Thr139=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332913]|not provided [RCV000935580] Chr16:2044738 [GRCh38]
Chr16:2094739 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.115+10C>A single nucleotide variant NTHL1-related disorder [RCV003913166]|not provided [RCV000935619]|not specified [RCV002268363] Chr16:2047699 [GRCh38]
Chr16:2097700 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.900C>T (p.Ala300=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256614]|not provided [RCV000935663] Chr16:2039939 [GRCh38]
Chr16:2089940 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_002528.7(NTHL1):c.562C>T (p.Leu188=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354801]|not provided [RCV000935637] Chr16:2043690 [GRCh38]
Chr16:2093691 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.189G>C (p.Ser63=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427330]|not provided [RCV000935934] Chr16:2046293 [GRCh38]
Chr16:2096294 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.18G>T (p.Ala6=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332915]|not provided [RCV000935953] Chr16:2047806 [GRCh38]
Chr16:2097807 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.513C>T (p.Val171=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346119]|not provided [RCV000934933] Chr16:2044642 [GRCh38]
Chr16:2094643 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.408C>T (p.Asp136=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022304]|NTHL1-related disorder [RCV003903114]|not provided [RCV000935431] Chr16:2044747 [GRCh38]
Chr16:2094748 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.711C>T (p.Ile237=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256611]|not provided [RCV000935242] Chr16:2040213 [GRCh38]
Chr16:2090214 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.843C>A (p.Thr281=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018170]|not provided [RCV000935285]|not specified [RCV002479081] Chr16:2039996 [GRCh38]
Chr16:2089997 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_002528.7(NTHL1):c.791+10T>G single nucleotide variant NTHL1-related disorder [RCV003970595]|not provided [RCV000935577]|not specified [RCV002268362] Chr16:2040123 [GRCh38]
Chr16:2090124 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.116-10C>G single nucleotide variant Familial adenomatous polyposis 3 [RCV001000828]|NTHL1-related disorder [RCV003970785]|not provided [RCV000957359]|not specified [RCV002268377] Chr16:2046376 [GRCh38]
Chr16:2096377 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_002528.7(NTHL1):c.888C>A (p.Ala296=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372609]|not provided [RCV000935434] Chr16:2039951 [GRCh38]
Chr16:2089952 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.607C>T (p.Leu203=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025134]|not provided [RCV000935464]|not specified [RCV003493759] Chr16:2043645 [GRCh38]
Chr16:2093646 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_002528.7(NTHL1):c.582G>A (p.Gly194=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024859]|not provided [RCV000936022] Chr16:2043670 [GRCh38]
Chr16:2093671 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.510C>T (p.Pro170=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346111]|not provided [RCV000934262] Chr16:2044645 [GRCh38]
Chr16:2094646 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.17C>T (p.Ala6Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022036]|not provided [RCV001207339] Chr16:2047807 [GRCh38]
Chr16:2097808 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.80A>G (p.Glu27Gly) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467774]|Hereditary cancer-predisposing syndrome [RCV003160427]|not provided [RCV001054038] Chr16:2047744 [GRCh38]
Chr16:2097745 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.428T>C (p.Met143Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022648]|not provided [RCV001068969] Chr16:2044727 [GRCh38]
Chr16:2094728 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.88C>T (p.Pro30Ser) single nucleotide variant not provided [RCV001056021] Chr16:2047736 [GRCh38]
Chr16:2097737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.313C>T (p.Leu105=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020142]|not provided [RCV002068989] Chr16:2046169 [GRCh38]
Chr16:2096170 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.502A>G (p.Ile168Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023825]|not provided [RCV003565447] Chr16:2044653 [GRCh38]
Chr16:2094654 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.322G>A (p.Glu108Lys) single nucleotide variant Familial adenomatous polyposis 3 [RCV003461385]|Hereditary cancer-predisposing syndrome [RCV001020379]|not provided [RCV001037264] Chr16:2046160 [GRCh38]
Chr16:2096161 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.350del (p.Pro117fs) deletion Familial adenomatous polyposis 3 [RCV003458220]|Hereditary cancer-predisposing syndrome [RCV001021039]|not provided [RCV001382392] Chr16:2046132 [GRCh38]
Chr16:2096133 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.685+123A>G single nucleotide variant not provided [RCV001581296] Chr16:2043444 [GRCh38]
Chr16:2093445 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.911T>A (p.Leu304His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019218]|not provided [RCV001206335] Chr16:2039928 [GRCh38]
Chr16:2089929 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.355-264A>G single nucleotide variant not provided [RCV001715788] Chr16:2045064 [GRCh38]
Chr16:2095065 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2089477-2135939) copy number loss Polycystic kidney disease, adult type [RCV001030057] Chr16:2089477..2135939 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.327C>G (p.His109Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020505] Chr16:2046155 [GRCh38]
Chr16:2096156 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.269A>G (p.Asn90Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV004570280]|Hereditary cancer-predisposing syndrome [RCV002256676]|not provided [RCV001066658]|not specified [RCV002268429] Chr16:2046213 [GRCh38]
Chr16:2096214 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.116A>C (p.Glu39Ala) single nucleotide variant not provided [RCV001054585] Chr16:2046366 [GRCh38]
Chr16:2096367 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.-3G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015115]|not provided [RCV001066222] Chr16:2047826 [GRCh38]
Chr16:2097827 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.-3G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015117]|not provided [RCV001873260] Chr16:2047826 [GRCh38]
Chr16:2097827 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.698A>G (p.His233Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374930]|not provided [RCV001056242] Chr16:2040226 [GRCh38]
Chr16:2090227 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.39G>C (p.Arg13=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025227]|not provided [RCV001412726] Chr16:2047785 [GRCh38]
Chr16:2097786 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.10:g.(?_2039914)_(2048065_?)dup duplication Tuberous sclerosis 2 [RCV001032335] Chr16:2089915..2098066 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.40A>G (p.Ser14Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025341] Chr16:2047784 [GRCh38]
Chr16:2097785 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.130C>G (p.His44Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012077]|not provided [RCV001040110] Chr16:2046352 [GRCh38]
Chr16:2096353 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.525G>A (p.Arg175=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348470]|not provided [RCV001067945] Chr16:2044630 [GRCh38]
Chr16:2094631 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.-3G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445353]|not provided [RCV001068444] Chr16:2047826 [GRCh38]
Chr16:2097827 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.101G>A (p.Arg34Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010595] Chr16:2047723 [GRCh38]
Chr16:2097724 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.116-17C>T single nucleotide variant NTHL1-related disorder [RCV003921350]|not provided [RCV002077146]|not specified [RCV001700584] Chr16:2046383 [GRCh38]
Chr16:2096384 [GRCh37]
Chr16:16p13.3		 benign
NM_002528.7(NTHL1):c.478G>A (p.Asp160Asn) single nucleotide variant not provided [RCV001064398] Chr16:2044677 [GRCh38]
Chr16:2094678 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.743C>A (p.Thr248Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402476]|not provided [RCV001070275] Chr16:2040181 [GRCh38]
Chr16:2090182 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.164_165del (p.Arg55fs) microsatellite Familial adenomatous polyposis 3 [RCV003458221]|Hereditary cancer-predisposing syndrome [RCV002411615]|not provided [RCV001070357] Chr16:2046317..2046318 [GRCh38]
Chr16:2096318..2096319 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.382C>G (p.Leu128Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467789]|Hereditary cancer-predisposing syndrome [RCV002320308]|not provided [RCV001058306] Chr16:2044773 [GRCh38]
Chr16:2094774 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.203G>A (p.Gly68Asp) single nucleotide variant not provided [RCV001060216] Chr16:2046279 [GRCh38]
Chr16:2096280 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.370G>A (p.Val124Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375162]|not provided [RCV001211529] Chr16:2044785 [GRCh38]
Chr16:2094786 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.275G>C (p.Arg92Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436585]|not provided [RCV001047907] Chr16:2046207 [GRCh38]
Chr16:2096208 [GRCh37]
Chr16:16p13.3		 uncertain significance
NG_008412.1:g.5020A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013979] Chr16:2047847 [GRCh38]
Chr16:2097848 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.5C>T (p.Thr2Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004649423]|not provided [RCV001048330] Chr16:2047819 [GRCh38]
Chr16:2097820 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.730A>G (p.Thr244Ala) single nucleotide variant NTHL1-related disorder [RCV003398947]|not provided [RCV001214526] Chr16:2040194 [GRCh38]
Chr16:2090195 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.605A>T (p.Glu202Val) single nucleotide variant not provided [RCV001214696] Chr16:2043647 [GRCh38]
Chr16:2093648 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.310C>T (p.His104Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320342]|not provided [RCV001067979] Chr16:2046172 [GRCh38]
Chr16:2096173 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.533T>G (p.Val178Gly) single nucleotide variant not provided [RCV001040403] Chr16:2043719 [GRCh38]
Chr16:2093720 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.550A>T (p.Thr184Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348388]|not provided [RCV001048976] Chr16:2043702 [GRCh38]
Chr16:2093703 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.908G>T (p.Gly303Val) single nucleotide variant not provided [RCV001049092] Chr16:2039931 [GRCh38]
Chr16:2089932 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.793G>A (p.Glu265Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027252]|not provided [RCV001061092] Chr16:2040046 [GRCh38]
Chr16:2090047 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.218C>G (p.Pro73Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451605]|not provided [RCV001247107] Chr16:2046264 [GRCh38]
Chr16:2096265 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.224A>G (p.Lys75Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429632]|not provided [RCV001049202] Chr16:2046258 [GRCh38]
Chr16:2096259 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.817C>T (p.Leu273Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004031255]|not provided [RCV001041618] Chr16:2040022 [GRCh38]
Chr16:2090023 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.429G>T (p.Met143Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339256]|not provided [RCV001051180] Chr16:2044726 [GRCh38]
Chr16:2094727 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.710T>C (p.Ile237Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379511]|not provided [RCV001043244] Chr16:2040214 [GRCh38]
Chr16:2090215 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.763C>G (p.Arg255Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256663]|not provided [RCV001051543] Chr16:2040161 [GRCh38]
Chr16:2090162 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.779A>T (p.Glu260Val) single nucleotide variant not provided [RCV001051816] Chr16:2040145 [GRCh38]
Chr16:2090146 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.695C>T (p.Thr232Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375186]|not provided [RCV001216478] Chr16:2040229 [GRCh38]
Chr16:2090230 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.791+2T>C single nucleotide variant Familial adenomatous polyposis 3 [RCV003462750]|Hereditary cancer-predisposing syndrome [RCV002418757]|not provided [RCV001220484] Chr16:2040131 [GRCh38]
Chr16:2090132 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_002528.7(NTHL1):c.548A>G (p.Gln183Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024455]|not provided [RCV001862289] Chr16:2043704 [GRCh38]
Chr16:2093705 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.599_600del (p.Val200fs) microsatellite not provided [RCV001205832] Chr16:2043652..2043653 [GRCh38]
Chr16:2093653..2093654 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NC_000016.10:g.(?_2039924)_(2065645_?)dup duplication Tuberous sclerosis 2 [RCV001345089]|not provided [RCV001031245] Chr16:2089925..2115646 [GRCh37]
Chr16:16p13.3		 uncertain significance|no classifications from unflagged records
NC_000016.10:g.(?_2039924)_(2040248_?)dup duplication not provided [RCV001031382] Chr16:2089925..2090249 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.116-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011346]|not provided [RCV003769444] Chr16:2046369 [GRCh38]
Chr16:2096370 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.547C>A (p.Gln183Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004033936]|not provided [RCV001214684] Chr16:2043705 [GRCh38]
Chr16:2093706 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.541A>G (p.Ile181Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348797]|not provided [RCV001236214] Chr16:2043711 [GRCh38]
Chr16:2093712 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.724A>G (p.Arg242Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391097]|not provided [RCV001036606] Chr16:2040200 [GRCh38]
Chr16:2090201 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.607C>G (p.Leu203Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363594]|not provided [RCV001045286] Chr16:2043645 [GRCh38]
Chr16:2093646 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.21G>T (p.Arg7Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256698]|not provided [RCV001208008] Chr16:2047803 [GRCh38]
Chr16:2097804 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.862C>T (p.Arg288Cys) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467824]|Hereditary cancer-predisposing syndrome [RCV002374968]|not provided [RCV001064467] Chr16:2039977 [GRCh38]
Chr16:2089978 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_2039924)_(2080387_?)del deletion not provided [RCV001032402] Chr16:2089925..2130388 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.(?_2039924)_(2093096_?)dup duplication not provided [RCV001032498] Chr16:2089925..2143097 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_2043557)_(2044810_?)del deletion not provided [RCV001032713] Chr16:2093558..2094811 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.104A>G (p.Glu35Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379490]|not provided [RCV001037901] Chr16:2047720 [GRCh38]
Chr16:2097721 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.358C>T (p.Arg120Cys) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467745]|Hereditary cancer-predisposing syndrome [RCV002363597]|not provided [RCV001045946] Chr16:2044797 [GRCh38]
Chr16:2094798 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.78G>T (p.Glu26Asp) single nucleotide variant not provided [RCV001208148] Chr16:2047746 [GRCh38]
Chr16:2097747 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.577G>C (p.Gly193Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355021]|not provided [RCV001046791] Chr16:2043675 [GRCh38]
Chr16:2093676 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.118G>T (p.Ala40Ser) single nucleotide variant not provided [RCV001202275] Chr16:2046364 [GRCh38]
Chr16:2096365 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.728G>A (p.Trp243Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393598]|not provided [RCV001236415] Chr16:2040196 [GRCh38]
Chr16:2090197 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.572A>G (p.His191Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355084]|not provided [RCV001066291] Chr16:2043680 [GRCh38]
Chr16:2093681 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.751C>G (p.Pro251Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026790] Chr16:2040173 [GRCh38]
Chr16:2090174 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.511G>A (p.Val171Ile) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467705]|Hereditary cancer-predisposing syndrome [RCV002346244]|not provided [RCV001035640] Chr16:2044644 [GRCh38]
Chr16:2094645 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.821T>C (p.Leu274Ser) single nucleotide variant not provided [RCV001035837] Chr16:2040018 [GRCh38]
Chr16:2090019 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.81G>A (p.Glu27=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009809]|not provided [RCV002068810]|not specified [RCV003493770] Chr16:2047743 [GRCh38]
Chr16:2097744 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.179A>G (p.Tyr60Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014166]|not provided [RCV001362920] Chr16:2046303 [GRCh38]
Chr16:2096304 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.354+1G>A single nucleotide variant Familial adenomatous polyposis 3 [RCV003469263]|Hereditary cancer-predisposing syndrome [RCV002258127]|not provided [RCV001070359] Chr16:2046127 [GRCh38]
Chr16:2096128 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.811A>T (p.Asn271Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434438]|not provided [RCV001037612] Chr16:2040028 [GRCh38]
Chr16:2090029 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.116-1_116delinsCT indel not provided [RCV001037818] Chr16:2046366..2046367 [GRCh38]
Chr16:2096367..2096368 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.214G>A (p.Glu72Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015375]|not provided [RCV002549417] Chr16:2046268 [GRCh38]
Chr16:2096269 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.479A>G (p.Asp160Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004034904]|not provided [RCV001247800] Chr16:2044676 [GRCh38]
Chr16:2094677 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.514G>A (p.Gly172Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024021]|not provided [RCV001063799] Chr16:2044641 [GRCh38]
Chr16:2094642 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.232del (p.Val78fs) deletion Familial adenomatous polyposis 3 [RCV003336244]|Hereditary cancer-predisposing syndrome [RCV001015982]|not provided [RCV002551789] Chr16:2046250 [GRCh38]
Chr16:2096251 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.208G>T (p.Gly70Trp) single nucleotide variant not provided [RCV001039558] Chr16:2046274 [GRCh38]
Chr16:2096275 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.82C>T (p.Pro28Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017193]|not provided [RCV002279708] Chr16:2047742 [GRCh38]
Chr16:2097743 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.805G>C (p.Glu269Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427498]|not provided [RCV001039953] Chr16:2040034 [GRCh38]
Chr16:2090035 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.116-9T>A single nucleotide variant Familial adenomatous polyposis 3 [RCV002290650]|not provided [RCV001232265] Chr16:2046375 [GRCh38]
Chr16:2096376 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.812A>G (p.Asn271Ser) single nucleotide variant Familial adenomatous polyposis 3 [RCV003467640]|Hereditary cancer-predisposing syndrome [RCV001017611]|not provided [RCV001067983] Chr16:2040027 [GRCh38]
Chr16:2090028 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.594C>G (p.Ala198=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024983]|not provided [RCV001483652] Chr16:2043658 [GRCh38]
Chr16:2093659 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.37C>A (p.Arg13=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024996] Chr16:2047787 [GRCh38]
Chr16:2097788 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.448G>A (p.Gly150Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339203]|not provided [RCV001040980] Chr16:2044707 [GRCh38]
Chr16:2094708 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.394A>G (p.Ser132Gly) single nucleotide variant not provided [RCV001041118] Chr16:2044761 [GRCh38]
Chr16:2094762 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.359G>T (p.Arg120Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV004570476]|Hereditary cancer-predisposing syndrome [RCV002365969]|not provided [RCV001215684] Chr16:2044796 [GRCh38]
Chr16:2094797 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.-11A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011915]|not provided [RCV001247869] Chr16:2047834 [GRCh38]
Chr16:2097835 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.152G>T (p.Arg51Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402450]|not provided [RCV001064629] Chr16:2046330 [GRCh38]
Chr16:2096331 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.6(NTHL1):c.5G>T (p.Cys2Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354989]|not provided [RCV001038754] Chr16:2047843 [GRCh38]
Chr16:2097844 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.649G>A (p.Ala217Thr) single nucleotide variant Familial adenomatous polyposis 3 [RCV004570053]|Hereditary cancer-predisposing syndrome [RCV001025598]|not provided [RCV001058023] Chr16:2043603 [GRCh38]
Chr16:2093604 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.871G>A (p.Ala291Thr) single nucleotide variant Familial adenomatous polyposis 3 [RCV004569971]|Hereditary cancer-predisposing syndrome [RCV001018550]|NTHL1-related disorder [RCV004751856]|not provided [RCV001036786] Chr16:2039968 [GRCh38]
Chr16:2089969 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2011148-2161281)x3 copy number gain not provided [RCV001259758] Chr16:2011148..2161281 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.129C>G (p.Ser43Arg) single nucleotide variant not provided [RCV001324518] Chr16:2046353 [GRCh38]
Chr16:2096354 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.183G>C (p.Glu61Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420754]|not provided [RCV001349944] Chr16:2046299 [GRCh38]
Chr16:2096300 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.241C>G (p.Pro81Ala) single nucleotide variant Familial adenomatous polyposis 3 [RCV003153980]|Hereditary cancer-predisposing syndrome [RCV002256734]|not provided [RCV001303684] Chr16:2046241 [GRCh38]
Chr16:2096242 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.908G>C (p.Gly303Ala) single nucleotide variant not provided [RCV001319530] Chr16:2039931 [GRCh38]
Chr16:2089932 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.259C>G (p.Gln87Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438726]|not provided [RCV001319571] Chr16:2046223 [GRCh38]
Chr16:2096224 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.530A>G (p.Lys177Arg) single nucleotide variant Familial adenomatous polyposis 3 [RCV003469521]|Hereditary cancer-predisposing syndrome [RCV002350534]|not provided [RCV001298503] Chr16:2043722 [GRCh38]
Chr16:2093723 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.590C>T (p.Pro197Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258195]|not provided [RCV001316470] Chr16:2043662 [GRCh38]
Chr16:2093663 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.883C>G (p.Gln295Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294270]|not provided [RCV001316231] Chr16:2039956 [GRCh38]
Chr16:2089957 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.85G>C (p.Gly29Arg) single nucleotide variant not provided [RCV001298665] Chr16:2047739 [GRCh38]
Chr16:2097740 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.853G>A (p.Val285Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166739]|not provided [RCV001306278] Chr16:2039986 [GRCh38]
Chr16:2089987 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.454A>C (p.Thr152Pro) single nucleotide variant not provided [RCV001296792] Chr16:2044701 [GRCh38]
Chr16:2094702 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.773T>C (p.Leu258Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418929]|not provided [RCV001306398] Chr16:2040151 [GRCh38]
Chr16:2090152 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.693C>G (p.Asp231Glu) single nucleotide variant not provided [RCV001303624] Chr16:2040231 [GRCh38]
Chr16:2090232 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.-7G>T single nucleotide variant not provided [RCV001312820] Chr16:2047830 [GRCh38]
Chr16:2097831 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.79G>C (p.Glu27Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003365303]|not provided [RCV001297281] Chr16:2047745 [GRCh38]
Chr16:2097746 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.61C>T (p.Pro21Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447327]|not provided [RCV001313344] Chr16:2047763 [GRCh38]
Chr16:2097764 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.113C>G (p.Ala38Gly) single nucleotide variant not provided [RCV001343324] Chr16:2047711 [GRCh38]
Chr16:2097712 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.875G>A (p.Cys292Tyr) single nucleotide variant not provided [RCV001302018] Chr16:2039964 [GRCh38]
Chr16:2089965 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.301C>G (p.Pro101Ala) single nucleotide variant not provided [RCV001306104] Chr16:2046181 [GRCh38]
Chr16:2096182 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.906G>C (p.Gln302His) single nucleotide variant not provided [RCV001351633] Chr16:2039933 [GRCh38]
Chr16:2089934 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.12G>C (p.Leu4Phe) single nucleotide variant not provided [RCV001324475] Chr16:2047812 [GRCh38]
Chr16:2097813 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.887C>A (p.Ala296Asp) single nucleotide variant not provided [RCV001307239] Chr16:2039952 [GRCh38]
Chr16:2089953 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.862_874del (p.Arg288fs) deletion not provided [RCV001341424] Chr16:2039965..2039977 [GRCh38]
Chr16:2089966..2089978 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.181G>A (p.Glu61Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418891]|not provided [RCV001297044] Chr16:2046301 [GRCh38]
Chr16:2096302 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.43C>T (p.Leu15=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368298]|not provided [RCV001415450] Chr16:2047781 [GRCh38]
Chr16:2097782 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.285G>A (p.Arg95=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322457]|not provided [RCV001434121] Chr16:2046197 [GRCh38]
Chr16:2096198 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.89C>T (p.Pro30Leu) single nucleotide variant Familial adenomatous polyposis 3 [RCV003469608]|Hereditary cancer-predisposing syndrome [RCV002456572]|not provided [RCV001368551] Chr16:2047735 [GRCh38]
Chr16:2097736 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.731C>A (p.Thr244Asn) single nucleotide variant not provided [RCV001297608] Chr16:2040193 [GRCh38]
Chr16:2090194 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.499C>T (p.Leu167Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341793]|not provided [RCV001368483] Chr16:2044656 [GRCh38]
Chr16:2094657 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.116-10dup duplication not provided [RCV001422713] Chr16:2046375..2046376 [GRCh38]
Chr16:2096376..2096377 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.812A>C (p.Asn271Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437012]|not provided [RCV001297992] Chr16:2040027 [GRCh38]
Chr16:2090028 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.377T>C (p.Leu126Pro) single nucleotide variant Familial adenomatous polyposis 3 [RCV004570910]|Hereditary cancer-predisposing syndrome [RCV002357259]|not provided [RCV001370421] Chr16:2044778 [GRCh38]
Chr16:2094779 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.813T>C (p.Asn271=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255666]|not provided [RCV001433707] Chr16:2040026 [GRCh38]
Chr16:2090027 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.265dup (p.Val89fs) duplication Familial adenomatous polyposis 3 [RCV003458226]|Hereditary cancer-predisposing syndrome [RCV002438888]|not provided [RCV001382571] Chr16:2046216..2046217 [GRCh38]
Chr16:2096217..2096218 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.786G>A (p.Leu262=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420880]|not provided [RCV001396858] Chr16:2040138 [GRCh38]
Chr16:2090139 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.137C>T (p.Pro46Leu) single nucleotide variant not provided [RCV001355289] Chr16:2046345 [GRCh38]
Chr16:2096346 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.419C>T (p.Ala140Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003462871]|Hereditary cancer-predisposing syndrome [RCV002327666]|not provided [RCV001304308] Chr16:2044736 [GRCh38]
Chr16:2094737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.94C>T (p.Arg32Trp) single nucleotide variant Familial adenomatous polyposis 3 [RCV002504459]|Hereditary cancer-predisposing syndrome [RCV002341606]|not provided [RCV001304317] Chr16:2047730 [GRCh38]
Chr16:2097731 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.623G>C (p.Gly208Ala) single nucleotide variant not provided [RCV001371082] Chr16:2043629 [GRCh38]
Chr16:2093630 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.26T>G (p.Leu9Arg) single nucleotide variant not provided [RCV001360416] Chr16:2047798 [GRCh38]
Chr16:2097799 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.723G>A (p.Leu241=) single nucleotide variant not provided [RCV001392056] Chr16:2040201 [GRCh38]
Chr16:2090202 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.846T>C (p.Cys282=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377584]|not provided [RCV001392058] Chr16:2039993 [GRCh38]
Chr16:2089994 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.355-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258224]|not provided [RCV001373105] Chr16:2044803 [GRCh38]
Chr16:2094804 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.562C>G (p.Leu188Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357233]|not provided [RCV001362640] Chr16:2043690 [GRCh38]
Chr16:2093691 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.850C>T (p.Pro284Ser) single nucleotide variant not provided [RCV001301420] Chr16:2039989 [GRCh38]
Chr16:2089990 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.706A>G (p.Arg236Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004036909]|not provided [RCV001364258] Chr16:2040218 [GRCh38]
Chr16:2090219 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.908_909delinsAA (p.Gly303Glu) indel not provided [RCV001305430] Chr16:2039930..2039931 [GRCh38]
Chr16:2089931..2089932 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.437T>A (p.Leu146Gln) single nucleotide variant not provided [RCV001339795] Chr16:2044718 [GRCh38]
Chr16:2094719 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.509C>T (p.Pro170Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350619]|not provided [RCV001340644] Chr16:2044646 [GRCh38]
Chr16:2094647 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.275G>T (p.Arg92Leu) single nucleotide variant not provided [RCV001342090] Chr16:2046207 [GRCh38]
Chr16:2096208 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.500T>G (p.Leu167Arg) single nucleotide variant not provided [RCV001322883] Chr16:2044655 [GRCh38]
Chr16:2094656 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.525+5G>T single nucleotide variant not provided [RCV001326497] Chr16:2044625 [GRCh38]
Chr16:2094626 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.454A>G (p.Thr152Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256744]|not provided [RCV001338611] Chr16:2044701 [GRCh38]
Chr16:2094702 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.422G>A (p.Gly141Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004035092]|not provided [RCV001323001] Chr16:2044733 [GRCh38]
Chr16:2094734 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.32G>C (p.Arg11Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350597]|not provided [RCV001323980] Chr16:2047792 [GRCh38]
Chr16:2097793 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.884A>C (p.Gln295Pro) single nucleotide variant not provided [RCV001324023] Chr16:2039955 [GRCh38]
Chr16:2089956 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.412G>C (p.Val138Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327652]|not provided [RCV001301663] Chr16:2044743 [GRCh38]
Chr16:2094744 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.71G>T (p.Cys24Phe) single nucleotide variant not provided [RCV001346801] Chr16:2047753 [GRCh38]
Chr16:2097754 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.596C>T (p.Ser199Phe) single nucleotide variant not provided [RCV001365248] Chr16:2043656 [GRCh38]
Chr16:2093657 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.98G>A (p.Arg33Lys) single nucleotide variant Familial adenomatous polyposis 3 [RCV003469540]|Hereditary cancer-predisposing syndrome [RCV002375416]|not provided [RCV001318948] Chr16:2047726 [GRCh38]
Chr16:2097727 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.877C>T (p.Leu293Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377473]|not provided [RCV001346984] Chr16:2039962 [GRCh38]
Chr16:2089963 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.373C>A (p.Leu125Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375346]|not provided [RCV001298234] Chr16:2044782 [GRCh38]
Chr16:2094783 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_2039924)_(2093096_?)dup duplication Tuberous sclerosis 2 [RCV001318970] Chr16:2089925..2143097 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV001374070] Chr16:2047823 [GRCh38]
Chr16:2097824 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.515G>A (p.Gly172Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350578]|not provided [RCV001316869] Chr16:2044640 [GRCh38]
Chr16:2094641 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.130C>T (p.His44Tyr) single nucleotide variant not provided [RCV001344144] Chr16:2046352 [GRCh38]
Chr16:2096353 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.422G>C (p.Gly141Ala) single nucleotide variant not provided [RCV001323241] Chr16:2044733 [GRCh38]
Chr16:2094734 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.347C>T (p.Pro116Leu) single nucleotide variant not provided [RCV001323286] Chr16:2046135 [GRCh38]
Chr16:2096136 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.704A>G (p.His235Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169819]|not provided [RCV001363328] Chr16:2040220 [GRCh38]
Chr16:2090221 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.553A>C (p.Ser185Arg) single nucleotide variant not provided [RCV001338207] Chr16:2043699 [GRCh38]
Chr16:2093700 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.785T>C (p.Leu262Pro) single nucleotide variant Familial adenomatous polyposis 3 [RCV004570718]|not provided [RCV001307035] Chr16:2040139 [GRCh38]
Chr16:2090140 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.403A>G (p.Lys135Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327647]|not provided [RCV001300677] Chr16:2044752 [GRCh38]
Chr16:2094753 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.761C>A (p.Thr254Asn) single nucleotide variant not provided [RCV001300757] Chr16:2040163 [GRCh38]
Chr16:2090164 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.32GGAGCC[3] (p.11RS[3]) microsatellite Hereditary cancer-predisposing syndrome [RCV002368119]|not provided [RCV001339196] Chr16:2047780..2047781 [GRCh38]
Chr16:2097781..2097782 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.883C>A (p.Gln295Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447400]|not provided [RCV001341354] Chr16:2039956 [GRCh38]
Chr16:2089957 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.592G>C (p.Ala198Pro) single nucleotide variant Familial adenomatous polyposis 3 [RCV003469575]|not provided [RCV001343095] Chr16:2043660 [GRCh38]
Chr16:2093661 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.720G>C (p.Arg240Ser) single nucleotide variant not provided [RCV001344427] Chr16:2040204 [GRCh38]
Chr16:2090205 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.329G>T (p.Cys110Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456588]|not provided [RCV001373136] Chr16:2046153 [GRCh38]
Chr16:2096154 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.7G>C (p.Ala3Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322335]|not provided [RCV001363843] Chr16:2047817 [GRCh38]
Chr16:2097818 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.632C>T (p.Pro211Leu) single nucleotide variant not provided [RCV001350681] Chr16:2043620 [GRCh38]
Chr16:2093621 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.143A>G (p.Lys48Arg) single nucleotide variant not provided [RCV001325137] Chr16:2046339 [GRCh38]
Chr16:2096340 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.20G>A (p.Arg7Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327643]|not provided [RCV001298868] Chr16:2047804 [GRCh38]
Chr16:2097805 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.308A>G (p.Asp103Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169732]|not provided [RCV001350268] Chr16:2046174 [GRCh38]
Chr16:2096175 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.526-10T>G single nucleotide variant not provided [RCV001421201] Chr16:2043736 [GRCh38]
Chr16:2093737 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_002528.7(NTHL1):c.338C>G (p.Ser113Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456459]|not provided [RCV001326774] Chr16:2046144 [GRCh38]
Chr16:2096145 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.694A>C (p.Thr232Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169851]|not provided [RCV001366230] Chr16:2040230 [GRCh38]
Chr16:2090231 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.249C>G (p.Asp83Glu) single nucleotide variant not provided [RCV001314044] Chr16:2046233 [GRCh38]
Chr16:2096234 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.355-10G>A single nucleotide variant not provided [RCV001366468] Chr16:2044810 [GRCh38]
Chr16:2094811 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.690G>C (p.Val230=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003355466]|not provided [RCV001421625] Chr16:2040234 [GRCh38]
Chr16:2090235 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.492G>A (p.Leu164=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341846]|not provided [RCV001396038] Chr16:2044663 [GRCh38]
Chr16:2094664 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.188C>G (p.Ser63Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420808]|not provided [RCV001366688] Chr16:2046294 [GRCh38]
Chr16:2096295 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.346C>T (p.Pro116Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350614]|not provided [RCV001337805] Chr16:2046136 [GRCh38]
Chr16:2096137 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.257A>C (p.Gln86Pro) single nucleotide variant not provided [RCV001366904] Chr16:2046225 [GRCh38]
Chr16:2096226 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.20_21delinsCA (p.Arg7Thr) indel Hereditary cancer-predisposing syndrome [RCV002329308]|not provided [RCV001338554] Chr16:2047803..2047804 [GRCh38]
Chr16:2097804..2097805 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.623G>T (p.Gly208Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298600]|not provided [RCV001368055] Chr16:2043629 [GRCh38]
Chr16:2093630 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.760A>T (p.Thr254Ser) single nucleotide variant not provided [RCV001368731] Chr16:2040164 [GRCh38]
Chr16:2090165 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.491T>A (p.Leu164Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004651590]|not provided [RCV001327431] Chr16:2044664 [GRCh38]
Chr16:2094665 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_2039924)_(2060823_?)dup duplication Tuberous sclerosis 2 [RCV001318971]|not provided [RCV001031073] Chr16:2089925..2110824 [GRCh37]
Chr16:16p13.3		 uncertain significance|no classifications from unflagged records
NM_002528.7(NTHL1):c.379T>A (p.Ser127Thr) single nucleotide variant not provided [RCV001306087] Chr16:2044776 [GRCh38]
Chr16:2094777 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.863G>C (p.Arg288Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377425]|not provided [RCV001327087]|not specified [RCV004596442] Chr16:2039976 [GRCh38]
Chr16:2089977 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.209G>A (p.Gly70Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447451]|not provided [RCV001359330] Chr16:2046273 [GRCh38]
Chr16:2096274 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.110C>T (p.Ala37Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384386]|not provided [RCV001312444] Chr16:2047714 [GRCh38]
Chr16:2097715 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.201A>C (p.Lys67Asn) single nucleotide variant not provided [RCV001351440] Chr16:2046281 [GRCh38]
Chr16:2096282 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.218C>A (p.Pro73His) single nucleotide variant not provided [RCV001315180] Chr16:2046264 [GRCh38]
Chr16:2096265 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.873del (p.Cys292fs) deletion not provided [RCV001306215] Chr16:2039966 [GRCh38]
Chr16:2089967 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.376C>T (p.Leu126=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377669]|not provided [RCV001421791] Chr16:2044779 [GRCh38]
Chr16:2094780 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.355-7C>T single nucleotide variant not provided [RCV001502174] Chr16:2044807 [GRCh38]
Chr16:2094808 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.789T>G (p.Pro263=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160714]|not provided [RCV001427624] Chr16:2040135 [GRCh38]
Chr16:2090136 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.348C>G (p.Pro116=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350995]|not provided [RCV001483947] Chr16:2046134 [GRCh38]
Chr16:2096135 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.519C>T (p.Phe173=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256814]|not provided [RCV001504313] Chr16:2044636 [GRCh38]
Chr16:2094637 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.792-7C>T single nucleotide variant not provided [RCV001499532] Chr16:2040054 [GRCh38]
Chr16:2090055 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.510del (p.Val171fs) deletion Familial adenomatous polyposis 3 [RCV003458225]|Hereditary cancer-predisposing syndrome [RCV004639609]|not provided [RCV001380318] Chr16:2044645 [GRCh38]
Chr16:2094646 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.795G>A (p.Glu265=) single nucleotide variant not provided [RCV001475282] Chr16:2040044 [GRCh38]
Chr16:2090045 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.686-8C>T single nucleotide variant not provided [RCV001455262] Chr16:2040246 [GRCh38]
Chr16:2090247 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.819C>G (p.Leu273=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004038561]|not provided [RCV001457600] Chr16:2040020 [GRCh38]
Chr16:2090021 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.789T>C (p.Pro263=) single nucleotide variant not provided [RCV001455351] Chr16:2040135 [GRCh38]
Chr16:2090136 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.504C>A (p.Ile168=) single nucleotide variant not provided [RCV001491199] Chr16:2044651 [GRCh38]
Chr16:2094652 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.363G>A (p.Arg121=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368506]|not provided [RCV001492686] Chr16:2044792 [GRCh38]
Chr16:2094793 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.603C>G (p.Ala201=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259134]|not provided [RCV001491520] Chr16:2043649 [GRCh38]
Chr16:2093650 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.693C>T (p.Asp231=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004641662]|not provided [RCV001492819] Chr16:2040231 [GRCh38]
Chr16:2090232 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.105G>A (p.Glu35=) single nucleotide variant not provided [RCV001469446] Chr16:2047719 [GRCh38]
Chr16:2097720 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.495C>G (p.Gly165=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334555]|not provided [RCV001504229] Chr16:2044660 [GRCh38]
Chr16:2094661 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.438G>A (p.Leu146=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329430]|not provided [RCV001403351] Chr16:2044717 [GRCh38]
Chr16:2094718 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.177C>A (p.Ala59=) single nucleotide variant not provided [RCV001468248] Chr16:2046305 [GRCh38]
Chr16:2096306 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.792-9C>T single nucleotide variant not provided [RCV001500790] Chr16:2040056 [GRCh38]
Chr16:2090057 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.696G>C (p.Thr232=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377849]|not provided [RCV001493157] Chr16:2040228 [GRCh38]
Chr16:2090229 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.686-2A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368218]|not provided [RCV001379596] Chr16:2040240 [GRCh38]
Chr16:2090241 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_002528.7(NTHL1):c.27G>A (p.Leu9=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342078]|not provided [RCV001478341] Chr16:2047797 [GRCh38]
Chr16:2097798 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.525+9T>C single nucleotide variant not provided [RCV001440488] Chr16:2044621 [GRCh38]
Chr16:2094622 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.762C>A (p.Thr254=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414192]|not provided [RCV001493527] Chr16:2040162 [GRCh38]
Chr16:2090163 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.498G>A (p.Lys166=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004038441]|not provided [RCV001445895] Chr16:2044657 [GRCh38]
Chr16:2094658 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.456G>A (p.Thr152=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341979]|not provided [RCV001443669] Chr16:2044699 [GRCh38]
Chr16:2094700 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_2089925)_(2114438_?)del deletion Tuberous sclerosis 2 [RCV001386093] Chr16:2089925..2114438 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.186C>T (p.Gly62=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421006]|not provided [RCV001446285] Chr16:2046296 [GRCh38]
Chr16:2096297 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.355-8A>C single nucleotide variant not provided [RCV001402108] Chr16:2044808 [GRCh38]
Chr16:2094809 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.791+10T>C single nucleotide variant NTHL1-related disorder [RCV003920955]|not provided [RCV001444010] Chr16:2040123 [GRCh38]
Chr16:2090124 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.21G>A (p.Arg7=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341867]|not provided [RCV001403389] Chr16:2047803 [GRCh38]
Chr16:2097804 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.161dup (p.Arg55fs) duplication not provided [RCV001389488] Chr16:2046320..2046321 [GRCh38]
Chr16:2096321..2096322 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.573C>T (p.His191=) single nucleotide variant not provided [RCV001441569] Chr16:2043679 [GRCh38]
Chr16:2093680 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.594C>T (p.Ala198=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357341]|not provided [RCV001405686] Chr16:2043658 [GRCh38]
Chr16:2093659 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.685+8G>A single nucleotide variant not provided [RCV001431259] Chr16:2043559 [GRCh38]
Chr16:2093560 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.745A>T (p.Lys249Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV001533141] Chr16:2040179 [GRCh38]
Chr16:2090180 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.736A>T (p.Lys246Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV003316841]|not provided [RCV001390301] Chr16:2040188 [GRCh38]
Chr16:2090189 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.87G>A (p.Gly29=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438917]|not provided [RCV001399945] Chr16:2047737 [GRCh38]
Chr16:2097738 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.791+1G>A single nucleotide variant Familial adenomatous polyposis 3 [RCV003469663]|Hereditary cancer-predisposing syndrome [RCV002420858]|NTHL1-related disorder [RCV004751966]|not provided [RCV001381694] Chr16:2040132 [GRCh38]
Chr16:2090133 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.123G>A (p.Arg41=) single nucleotide variant not provided [RCV001447347] Chr16:2046359 [GRCh38]
Chr16:2096360 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.306G>A (p.Val102=) single nucleotide variant not provided [RCV001423562] Chr16:2046176 [GRCh38]
Chr16:2096177 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.564G>A (p.Leu188=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358921]|not provided [RCV001411376] Chr16:2043688 [GRCh38]
Chr16:2093689 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_002528.7(NTHL1):c.258A>G (p.Gln86=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438953]|not provided [RCV001411476] Chr16:2046224 [GRCh38]
Chr16:2096225 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.84del (p.Pro30fs) deletion Familial adenomatous polyposis 3 [RCV003458227]|Hereditary cancer-predisposing syndrome [RCV004037691]|not provided [RCV001387870] Chr16:2047740 [GRCh38]
Chr16:2097741 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.540C>T (p.Tyr180=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351002]|not provided [RCV001485810] Chr16:2043712 [GRCh38]
Chr16:2093713 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.129C>T (p.Ser43=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405084]|not provided [RCV001461431] Chr16:2046353 [GRCh38]
Chr16:2096354 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.717C>T (p.Asn239=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384823]|not provided [RCV001495349] Chr16:2040207 [GRCh38]
Chr16:2090208 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_002528.7(NTHL1):c.177C>T (p.Ala59=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421080]|not provided [RCV001473086] Chr16:2046305 [GRCh38]
Chr16:2096306 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.255G>A (p.Gln85=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439155]|not provided [RCV001482224] Chr16:2046227 [GRCh38]
Chr16:2096228 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.360C>T (p.Arg120=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160930]|not provided [RCV001476044] Chr16:2044795 [GRCh38]
Chr16:2094796 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.18G>A (p.Ala6=) single nucleotide variant not provided [RCV001503281] Chr16:2047806 [GRCh38]
Chr16:2097807 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.526-8T>C single nucleotide variant not provided [RCV001497280] Chr16:2043734 [GRCh38]
Chr16:2093735 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.819C>T (p.Leu273=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414165]|not provided [RCV001481113] Chr16:2040020 [GRCh38]
Chr16:2090021 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.75G>A (p.Arg25=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384760]|not provided [RCV001471303] Chr16:2047749 [GRCh38]
Chr16:2097750 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.116-10C>T single nucleotide variant not provided [RCV001471333] Chr16:2046376 [GRCh38]
Chr16:2096377 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.87G>C (p.Gly29=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439071]|not provided [RCV001454283] Chr16:2047737 [GRCh38]
Chr16:2097738 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.906G>A (p.Gln302=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377658]|not provided [RCV001419084] Chr16:2039933 [GRCh38]
Chr16:2089934 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.307dup (p.Asp103fs) duplication Hereditary cancer-predisposing syndrome [RCV003169950]|not provided [RCV001387851] Chr16:2046174..2046175 [GRCh38]
Chr16:2096175..2096176 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.447G>T (p.Arg149=) single nucleotide variant not provided [RCV001464221] Chr16:2044708 [GRCh38]
Chr16:2094709 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.168G>A (p.Leu56=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298813]|not provided [RCV001467345] Chr16:2046314 [GRCh38]
Chr16:2096315 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.160_161del (p.Gln54fs) microsatellite Familial adenomatous polyposis 3 [RCV003458228]|Hereditary cancer-predisposing syndrome [RCV003298633]|not provided [RCV001388535] Chr16:2046321..2046322 [GRCh38]
Chr16:2096322..2096323 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.843C>G (p.Thr281=) single nucleotide variant not provided [RCV001465816] Chr16:2039996 [GRCh38]
Chr16:2089997 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.375G>C (p.Leu125=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324115]|not provided [RCV001506357] Chr16:2044780 [GRCh38]
Chr16:2094781 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.159A>G (p.Ala53=) single nucleotide variant not provided [RCV001488567] Chr16:2046323 [GRCh38]
Chr16:2096324 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.115+9G>T single nucleotide variant not provided [RCV001476247] Chr16:2047700 [GRCh38]
Chr16:2097701 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.792-9C>A single nucleotide variant not provided [RCV001482415] Chr16:2040056 [GRCh38]
Chr16:2090057 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.357A>G (p.Val119=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357316]|not provided [RCV001397720] Chr16:2044798 [GRCh38]
Chr16:2094799 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.686-5A>G single nucleotide variant not provided [RCV001461826] Chr16:2040243 [GRCh38]
Chr16:2090244 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.702G>A (p.Val234=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384781]|not provided [RCV001480346] Chr16:2040222 [GRCh38]
Chr16:2090223 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.834C>T (p.Gly278=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449091]|not provided [RCV001397792] Chr16:2040005 [GRCh38]
Chr16:2090006 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_002528.7(NTHL1):c.603C>A (p.Ala201=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004038650]|not provided [RCV001466063] Chr16:2043649 [GRCh38]
Chr16:2093650 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.402C>G (p.Thr134=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329459]|not provided [RCV001419855] Chr16:2044753 [GRCh38]
Chr16:2094754 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_002528.7(NTHL1):c.186C>G (p.Gly62=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421137]|not provided [RCV001496546] Chr16:2046296 [GRCh38]
Chr16:2096297 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.39G>A (p.Arg13=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004037795]|not provided [RCV001398477] Chr16:2047785 [GRCh38]
Chr16:2097786 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.216G>A (p.Glu72=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456702]|not provided [RCV001428039] Chr16:2046266 [GRCh38]
Chr16:2096267 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.858C>T (p.His286=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377696]|not provided [RCV001432930] Chr16:2039981 [GRCh38]
Chr16:2089982 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.69G>A (p.Gly23=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377652]|not provided [RCV001416369] Chr16:2047755 [GRCh38]
Chr16:2097756 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.51C>T (p.Pro17=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396109]|not provided [RCV001468122] Chr16:2047773 [GRCh38]
Chr16:2097774 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.459G>A (p.Val153=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298820]|not provided [RCV001471655] Chr16:2044696 [GRCh38]
Chr16:2094697 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.373C>T (p.Leu125=) single nucleotide variant not provided [RCV001489073] Chr16:2044782 [GRCh38]
Chr16:2094783 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_002528.7(NTHL1):c.792-5del deletion not provided [RCV001512169] Chr16:2040052 [GRCh38]
Chr16:2090053 [GRCh37]
Chr16:16p13.3		 benign
NM_002528.7(NTHL1):c.897G>C (p.Pro299=) single nucleotide variant not provided [RCV001468200] Chr16:2039942 [GRCh38]
Chr16:2089943 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:2089795-2185919) copy number loss Polycystic kidney disease, adult type [RCV001535972] Chr16:2089795..2185919 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2034220)_(2152787_?)del deletion Tuberous sclerosis 2 [RCV003105244] Chr16:2034220..2152787 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2097690)_(2114448_?)del deletion Tuberous sclerosis 2 [RCV003105245] Chr16:2097690..2114448 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.106G>T (p.Ala36Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258604] Chr16:2047718 [GRCh38]
Chr16:2097719 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.614C>A (p.Ala205Glu) single nucleotide variant Familial adenomatous polyposis 3 [RCV002489789]|Hereditary cancer-predisposing syndrome [RCV002361038]|not provided [RCV001755092] Chr16:2043638 [GRCh38]
Chr16:2093639 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.1851807_2093151del deletion Tuberous sclerosis 2 [RCV001257345] Chr16:1851807..2093151 [GRCh38]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.136C>T (p.Pro46Ser) single nucleotide variant not provided [RCV001756795] Chr16:2046346 [GRCh38]
Chr16:2096347 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.525+2T>G single nucleotide variant Familial adenomatous polyposis 3 [RCV003470889]|Hereditary cancer-predisposing syndrome [RCV003355542]|not provided [RCV003238507] Chr16:2044628 [GRCh38]
Chr16:2094629 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.239del (p.Glu80fs) deletion Hereditary cancer-predisposing syndrome [RCV002255965] Chr16:2046243 [GRCh38]
Chr16:2096244 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.241_242insT (p.Pro81fs) insertion Hereditary cancer-predisposing syndrome [RCV002255966] Chr16:2046240..2046241 [GRCh38]
Chr16:2096241..2096242 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.386T>C (p.Met129Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257313] Chr16:2044769 [GRCh38]
Chr16:2094770 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.247del (p.Asp83fs) deletion Hereditary cancer-predisposing syndrome [RCV002258606] Chr16:2046235 [GRCh38]
Chr16:2096236 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.38G>T (p.Arg13Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259248] Chr16:2047786 [GRCh38]
Chr16:2097787 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.539A>G (p.Tyr180Cys) single nucleotide variant not provided [RCV001763627] Chr16:2043713 [GRCh38]
Chr16:2093714 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.384G>C (p.Leu128=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324179]|not provided [RCV001772493] Chr16:2044771 [GRCh38]
Chr16:2094772 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.-8A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414321]|not provided [RCV001769008] Chr16:2047831 [GRCh38]
Chr16:2097832 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.440G>T (p.Arg147Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298981]|not provided [RCV001769045] Chr16:2044715 [GRCh38]
Chr16:2094716 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.585C>T (p.Asp195=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359235]|not provided [RCV001765270] Chr16:2043667 [GRCh38]
Chr16:2093668 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.690G>A (p.Val230=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163858]|not provided [RCV001765457] Chr16:2040234 [GRCh38]
Chr16:2090235 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.220C>T (p.Leu74Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516048] Chr16:2046262 [GRCh38]
Chr16:2096263 [GRCh37]
Chr16:16p13.3		 pathogenic|likely benign
NM_002528.7(NTHL1):c.695C>A (p.Thr232Lys) single nucleotide variant not provided [RCV001757077] Chr16:2040229 [GRCh38]
Chr16:2090230 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.872C>A (p.Ala291Asp) single nucleotide variant not provided [RCV002022458] Chr16:2039967 [GRCh38]
Chr16:2089968 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.167T>C (p.Leu56Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407096]|not provided [RCV001949805] Chr16:2046315 [GRCh38]
Chr16:2096316 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.207G>C (p.Glu69Asp) single nucleotide variant not provided [RCV001915532] Chr16:2046275 [GRCh38]
Chr16:2096276 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2003468)_(2126543_?)del deletion Tuberous sclerosis 2 [RCV001949704] Chr16:2003468..2126543 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.429G>C (p.Met143Ile) single nucleotide variant not provided [RCV001895760] Chr16:2044726 [GRCh38]
Chr16:2094727 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.532G>C (p.Val178Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344170]|not provided [RCV002006251] Chr16:2043720 [GRCh38]
Chr16:2093721 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.115+19T>G single nucleotide variant not provided [RCV001915406] Chr16:2047690 [GRCh38]
Chr16:2097691 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.717C>G (p.Asn239Lys) single nucleotide variant not provided [RCV001910382] Chr16:2040207 [GRCh38]
Chr16:2090208 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.237G>A (p.Trp79Ter) single nucleotide variant not provided [RCV001968034] Chr16:2046245 [GRCh38]
Chr16:2096246 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.25C>A (p.Leu9Met) single nucleotide variant not provided [RCV001895464] Chr16:2047799 [GRCh38]
Chr16:2097800 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.484G>A (p.Ala162Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337125]|not provided [RCV002045045] Chr16:2044671 [GRCh38]
Chr16:2094672 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.526-5T>C single nucleotide variant not provided [RCV001890561] Chr16:2043731 [GRCh38]
Chr16:2093732 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.316G>A (p.Gly106Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164128]|not provided [RCV001874284] Chr16:2046166 [GRCh38]
Chr16:2096167 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.65G>T (p.Arg22Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003289281]|not provided [RCV001969756] Chr16:2047759 [GRCh38]
Chr16:2097760 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.107C>A (p.Ala36Asp) single nucleotide variant not provided [RCV001890964] Chr16:2047717 [GRCh38]
Chr16:2097718 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.55G>A (p.Ala19Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004045331]|not provided [RCV001986125] Chr16:2047769 [GRCh38]
Chr16:2097770 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.11T>A (p.Leu4Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV003458235]|not provided [RCV001909047] Chr16:2047813 [GRCh38]
Chr16:2097814 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.32GGAGCC[1] (p.11RS[1]) microsatellite Hereditary cancer-predisposing syndrome [RCV002259152]|not provided [RCV001891630] Chr16:2047781..2047786 [GRCh38]
Chr16:2097782..2097787 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.912_913dup (p.Ter305SerextTer?) microsatellite Hereditary cancer-predisposing syndrome [RCV002258346]|not provided [RCV001965712] Chr16:2039925..2039926 [GRCh38]
Chr16:2089926..2089927 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.756G>T (p.Glu252Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161166]|not provided [RCV002004271] Chr16:2040168 [GRCh38]
Chr16:2090169 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.257A>G (p.Gln86Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441190]|not provided [RCV002022499] Chr16:2046225 [GRCh38]
Chr16:2096226 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.738G>C (p.Lys246Asn) single nucleotide variant not provided [RCV001968433] Chr16:2040186 [GRCh38]
Chr16:2090187 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.284G>A (p.Arg95Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324230]|not provided [RCV002039485] Chr16:2046198 [GRCh38]
Chr16:2096199 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.172G>A (p.Val58Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003355612]|not provided [RCV001890695] Chr16:2046310 [GRCh38]
Chr16:2096311 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.860C>G (p.Pro287Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370506]|not provided [RCV001909575] Chr16:2039979 [GRCh38]
Chr16:2089980 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.172_175del (p.Val58fs) deletion not provided [RCV001947081] Chr16:2046307..2046310 [GRCh38]
Chr16:2096308..2096311 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.675_676del (p.Ser226fs) microsatellite Familial adenomatous polyposis 3 [RCV004591684]|not provided [RCV002005756] Chr16:2043576..2043577 [GRCh38]
Chr16:2093577..2093578 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.791G>C (p.Arg264Thr) single nucleotide variant not provided [RCV001913695] Chr16:2040133 [GRCh38]
Chr16:2090134 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.21G>C (p.Arg7Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004651914]|not provided [RCV002021502] Chr16:2047803 [GRCh38]
Chr16:2097804 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.526-1G>T single nucleotide variant Familial adenomatous polyposis 3 [RCV003458232]|not provided [RCV001895351] Chr16:2043727 [GRCh38]
Chr16:2093728 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3 copy number gain not provided [RCV001827737] Chr16:1830141..2592737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.709dup (p.Ile237fs) duplication Familial adenomatous polyposis 3 [RCV003458240]|Hereditary cancer-predisposing syndrome [RCV002386918]|not provided [RCV002020931] Chr16:2040214..2040215 [GRCh38]
Chr16:2090215..2090216 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.625_626del (p.Val209fs) microsatellite Familial adenomatous polyposis 3 [RCV003458241]|not provided [RCV002020955] Chr16:2043626..2043627 [GRCh38]
Chr16:2093627..2093628 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.905A>T (p.Gln302Leu) single nucleotide variant not provided [RCV001966929] Chr16:2039934 [GRCh38]
Chr16:2089935 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.586A>C (p.Ile196Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303584]|not provided [RCV001986341] Chr16:2043666 [GRCh38]
Chr16:2093667 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.377T>A (p.Leu126Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004044611]|not provided [RCV001970338] Chr16:2044778 [GRCh38]
Chr16:2094779 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1847662-2653144) copy number gain not specified [RCV002052502] Chr16:1847662..2653144 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.240_248del (p.Glu80_Gln82del) deletion not provided [RCV001913236] Chr16:2046234..2046242 [GRCh38]
Chr16:2096235..2096243 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.543C>G (p.Ile181Met) single nucleotide variant not provided [RCV001948553] Chr16:2043709 [GRCh38]
Chr16:2093710 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.218C>T (p.Pro73Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458855]|not provided [RCV001967672] Chr16:2046264 [GRCh38]
Chr16:2096265 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.295G>A (p.Asp99Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004041580]|not provided [RCV001887320] Chr16:2046187 [GRCh38]
Chr16:2096188 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2096119)_(2143097_?)dup duplication not provided [RCV001940140] Chr16:2096119..2143097 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.568C>T (p.Gln190Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV003458237]|not provided [RCV001999770] Chr16:2043684 [GRCh38]
Chr16:2093685 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.17C>G (p.Ala6Gly) single nucleotide variant not provided [RCV001884701] Chr16:2047807 [GRCh38]
Chr16:2097808 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.508C>G (p.Pro170Ala) single nucleotide variant not provided [RCV001954688] Chr16:2044647 [GRCh38]
Chr16:2094648 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.115G>C (p.Glu39Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388792]|not provided [RCV001922570] Chr16:2047709 [GRCh38]
Chr16:2097710 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.81G>T (p.Glu27Asp) single nucleotide variant not provided [RCV001991382] Chr16:2047743 [GRCh38]
Chr16:2097744 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.75G>C (p.Arg25Ser) single nucleotide variant not provided [RCV001978836] Chr16:2047749 [GRCh38]
Chr16:2097750 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.854T>C (p.Val285Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370451]|not provided [RCV001884392] Chr16:2039985 [GRCh38]
Chr16:2089986 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.645C>G (p.His215Gln) single nucleotide variant not provided [RCV001988951] Chr16:2043607 [GRCh38]
Chr16:2093608 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.319A>G (p.Thr107Ala) single nucleotide variant not provided [RCV002000959] Chr16:2046163 [GRCh38]
Chr16:2096164 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2029297)_(2096295_?)del deletion not provided [RCV001958665] Chr16:2029297..2096295 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.62C>G (p.Pro21Arg) single nucleotide variant not provided [RCV001939838] Chr16:2047762 [GRCh38]
Chr16:2097763 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.236G>T (p.Trp79Leu) single nucleotide variant not provided [RCV001886828] Chr16:2046246 [GRCh38]
Chr16:2096247 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.299C>T (p.Ala100Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003365482]|not provided [RCV001942525] Chr16:2046183 [GRCh38]
Chr16:2096184 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.574T>C (p.Tyr192His) single nucleotide variant not provided [RCV002037467] Chr16:2043678 [GRCh38]
Chr16:2093679 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.840G>T (p.Gln280His) single nucleotide variant not provided [RCV001976354] Chr16:2039999 [GRCh38]
Chr16:2090000 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2096109)_(2100507_?)del deletion Tuberous sclerosis 2 [RCV001942201] Chr16:2096109..2100507 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.524G>A (p.Arg175Lys) single nucleotide variant not provided [RCV001877296] Chr16:2044631 [GRCh38]
Chr16:2094632 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.73A>G (p.Arg25Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370417]|not provided [RCV001900476] Chr16:2047751 [GRCh38]
Chr16:2097752 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.874T>C (p.Cys292Arg) single nucleotide variant not provided [RCV002046629] Chr16:2039965 [GRCh38]
Chr16:2089966 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.382C>A (p.Leu128Met) single nucleotide variant not provided [RCV001917846] Chr16:2044773 [GRCh38]
Chr16:2094774 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.225G>T (p.Lys75Asn) single nucleotide variant not provided [RCV001921200] Chr16:2046257 [GRCh38]
Chr16:2096258 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.712_713delinsTT (p.Ala238Phe) indel Hereditary cancer-predisposing syndrome [RCV003170473]|not provided [RCV002028202] Chr16:2040211..2040212 [GRCh38]
Chr16:2090212..2090213 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.22A>G (p.Met8Val) single nucleotide variant not provided [RCV001974043] Chr16:2047802 [GRCh38]
Chr16:2097803 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.40A>C (p.Ser14Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361172]|not provided [RCV001898122] Chr16:2047784 [GRCh38]
Chr16:2097785 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.388C>G (p.Leu130Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV003464282]|Hereditary cancer-predisposing syndrome [RCV002331518]|not provided [RCV001989959] Chr16:2044767 [GRCh38]
Chr16:2094768 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.196G>A (p.Glu66Lys) single nucleotide variant not provided [RCV001919353] Chr16:2046286 [GRCh38]
Chr16:2096287 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.842C>A (p.Thr281Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370636]|not provided [RCV001977477] Chr16:2039997 [GRCh38]
Chr16:2089998 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter) single nucleotide variant Familial adenomatous polyposis 3 [RCV003458236]|Hereditary cancer-predisposing syndrome [RCV002441011]|not provided [RCV001903865] Chr16:2046226 [GRCh38]
Chr16:2096227 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.271A>G (p.Ile91Val) single nucleotide variant Familial adenomatous polyposis 3 [RCV004571991]|Hereditary cancer-predisposing syndrome [RCV004046883]|not provided [RCV002027257] Chr16:2046211 [GRCh38]
Chr16:2096212 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.783G>C (p.Trp261Cys) single nucleotide variant Familial adenomatous polyposis 3 [RCV004571571]|not provided [RCV001932716] Chr16:2040141 [GRCh38]
Chr16:2090142 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.792-2A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423060]|not provided [RCV001916984] Chr16:2040049 [GRCh38]
Chr16:2090050 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_002528.7(NTHL1):c.330C>T (p.Cys110=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256872]|not provided [RCV001956053] Chr16:2046152 [GRCh38]
Chr16:2096153 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.533T>C (p.Val178Ala) single nucleotide variant not provided [RCV002016439] Chr16:2043719 [GRCh38]
Chr16:2093720 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.754GAG[1] (p.Glu253del) microsatellite not provided [RCV001875284] Chr16:2040165..2040167 [GRCh38]
Chr16:2090166..2090168 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.82C>G (p.Pro28Ala) single nucleotide variant not provided [RCV001917231] Chr16:2047742 [GRCh38]
Chr16:2097743 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.494G>A (p.Gly165Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337167]|not provided [RCV002031237] Chr16:2044661 [GRCh38]
Chr16:2094662 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.35G>A (p.Ser12Asn) single nucleotide variant not provided [RCV002015880] Chr16:2047789 [GRCh38]
Chr16:2097790 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.29C>T (p.Thr10Ile) single nucleotide variant Familial adenomatous polyposis 3 [RCV004571608]|Hereditary cancer-predisposing syndrome [RCV002344032]|not provided [RCV001933063] Chr16:2047795 [GRCh38]
Chr16:2097796 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.282G>A (p.Met94Ile) single nucleotide variant not provided [RCV002046245] Chr16:2046200 [GRCh38]
Chr16:2096201 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2089925)_(2098774_?)del deletion Tuberous sclerosis 2 [RCV001955370] Chr16:2089925..2098774 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2097700)_(2129439_?)dup duplication Tuberous sclerosis 2 [RCV001916096] Chr16:2097700..2129439 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.103G>A (p.Glu35Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004641816]|not provided [RCV001972336] Chr16:2047721 [GRCh38]
Chr16:2097722 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.242C>A (p.Pro81His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004043092]|not provided [RCV001936815] Chr16:2046240 [GRCh38]
Chr16:2096241 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.115+15T>C single nucleotide variant not provided [RCV001954032] Chr16:2047694 [GRCh38]
Chr16:2097695 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.589C>T (p.Pro197Ser) single nucleotide variant not provided [RCV001976501] Chr16:2043663 [GRCh38]
Chr16:2093664 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.790A>G (p.Arg264Gly) single nucleotide variant not provided [RCV001906845] Chr16:2040134 [GRCh38]
Chr16:2090135 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.726del (p.Arg242fs) deletion not provided [RCV001972553] Chr16:2040198 [GRCh38]
Chr16:2090199 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.762C>G (p.Thr254=) single nucleotide variant not provided [RCV001975294] Chr16:2040162 [GRCh38]
Chr16:2090163 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.442G>A (p.Ala148Thr) single nucleotide variant not provided [RCV001957610] Chr16:2044713 [GRCh38]
Chr16:2094714 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2034220)_(2136892_?)del deletion Tuberous sclerosis 2 [RCV001939677] Chr16:2034220..2136892 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2089925)_(2093737_?)del deletion not provided [RCV002048148] Chr16:2089925..2093737 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.698A>T (p.His233Leu) single nucleotide variant not provided [RCV001956708] Chr16:2040226 [GRCh38]
Chr16:2090227 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.674T>C (p.Val225Ala) single nucleotide variant not provided [RCV002018282] Chr16:2043578 [GRCh38]
Chr16:2093579 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.915A>G (p.Ter305Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370359]|not provided [RCV002046945] Chr16:2039924 [GRCh38]
Chr16:2089925 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.305T>G (p.Val102Gly) single nucleotide variant not provided [RCV001878999] Chr16:2046177 [GRCh38]
Chr16:2096178 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.620C>A (p.Pro207Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303671]|not provided [RCV002036203] Chr16:2043632 [GRCh38]
Chr16:2093633 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.469C>G (p.Leu157Val) single nucleotide variant not provided [RCV001975568] Chr16:2044686 [GRCh38]
Chr16:2094687 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.836A>G (p.Gln279Arg) single nucleotide variant not provided [RCV001956892] Chr16:2040003 [GRCh38]
Chr16:2090004 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.686-6C>T single nucleotide variant not provided [RCV001902131] Chr16:2040244 [GRCh38]
Chr16:2090245 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.913T>C (p.Ter305Arg) single nucleotide variant not provided [RCV001885912] Chr16:2039926 [GRCh38]
Chr16:2089927 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.418dup (p.Ala140fs) duplication Familial adenomatous polyposis 3 [RCV004043465]|Hereditary cancer-predisposing syndrome [RCV004043464]|not provided [RCV001932884] Chr16:2044736..2044737 [GRCh38]
Chr16:2094737..2094738 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.833G>A (p.Gly278Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004651846]|not provided [RCV001931658] Chr16:2040006 [GRCh38]
Chr16:2090007 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.457G>A (p.Val153Met) single nucleotide variant not provided [RCV001920986] Chr16:2044698 [GRCh38]
Chr16:2094699 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.653T>C (p.Met218Thr) single nucleotide variant not provided [RCV001883476] Chr16:2043599 [GRCh38]
Chr16:2093600 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.52G>T (p.Gly18Trp) single nucleotide variant not provided [RCV002036370] Chr16:2047772 [GRCh38]
Chr16:2097773 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.290A>C (p.Lys97Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324235]|not provided [RCV002047454] Chr16:2046192 [GRCh38]
Chr16:2096193 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.647T>C (p.Leu216Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003365516]|not provided [RCV001898563] Chr16:2043605 [GRCh38]
Chr16:2093606 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2089925)_(2104451_?)del deletion Tuberous sclerosis 2 [RCV001960628] Chr16:2089925..2104451 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.408C>A (p.Asp136Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331606]|not provided [RCV002011099] Chr16:2044747 [GRCh38]
Chr16:2094748 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.301C>T (p.Pro101Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003289327]|not provided [RCV001975996] Chr16:2046181 [GRCh38]
Chr16:2096182 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.908G>A (p.Gly303Asp) single nucleotide variant not provided [RCV001973451] Chr16:2039931 [GRCh38]
Chr16:2089932 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.2047835G>A single nucleotide variant not provided [RCV001924211] Chr16:2047835 [GRCh38]
Chr16:2097836 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.612_637del (p.Ala205fs) deletion not provided [RCV002011307] Chr16:2043615..2043640 [GRCh38]
Chr16:2093616..2093641 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.395G>A (p.Ser132Asn) single nucleotide variant not provided [RCV001930856] Chr16:2044760 [GRCh38]
Chr16:2094761 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.277G>A (p.Ala93Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004044121]|not provided [RCV001923826] Chr16:2046205 [GRCh38]
Chr16:2096206 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.625G>T (p.Val209Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361110]|not provided [RCV001932076] Chr16:2043627 [GRCh38]
Chr16:2093628 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.107C>G (p.Ala36Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170357]|not provided [RCV001994282] Chr16:2047717 [GRCh38]
Chr16:2097718 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.116-13_172del deletion not provided [RCV002036094] Chr16:2046310..2046379 [GRCh38]
Chr16:2096311..2096380 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.115+4G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004043619]|not provided [RCV001940436] Chr16:2047705 [GRCh38]
Chr16:2097706 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV002036346] Chr16:2047821 [GRCh38]
Chr16:2097822 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.251G>T (p.Trp84Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161238]|not provided [RCV002018632] Chr16:2046231 [GRCh38]
Chr16:2096232 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.634A>C (p.Lys212Gln) single nucleotide variant Familial adenomatous polyposis 3 [RCV003458234]|Hereditary cancer-predisposing syndrome [RCV002370446]|not provided [RCV001905670] Chr16:2043618 [GRCh38]
Chr16:2093619 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_002528.7(NTHL1):c.685+6T>C single nucleotide variant not provided [RCV001925247] Chr16:2043561 [GRCh38]
Chr16:2093562 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.2047843_2047859dup duplication not provided [RCV001898933] Chr16:2047841..2047842 [GRCh38]
Chr16:2097842..2097843 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.170G>C (p.Arg57Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375551]|not provided [RCV002028829] Chr16:2046312 [GRCh38]
Chr16:2096313 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.257A>T (p.Gln86Leu) single nucleotide variant not provided [RCV001973869] Chr16:2046225 [GRCh38]
Chr16:2096226 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.791+12T>C single nucleotide variant not provided [RCV001956520] Chr16:2040121 [GRCh38]
Chr16:2090122 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.890T>C (p.Leu297Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370709]|not provided [RCV002011563]|not specified [RCV003321893] Chr16:2039949 [GRCh38]
Chr16:2089950 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.215A>G (p.Glu72Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443080]|not provided [RCV002031639] Chr16:2046267 [GRCh38]
Chr16:2096268 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.449dup (p.Leu151fs) duplication not provided [RCV001974636] Chr16:2044705..2044706 [GRCh38]
Chr16:2094706..2094707 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.411G>C (p.Gln137His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331639]|not provided [RCV002027326] Chr16:2044744 [GRCh38]
Chr16:2094745 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.792-6C>A single nucleotide variant not provided [RCV001976721] Chr16:2040053 [GRCh38]
Chr16:2090054 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.789dup (p.Arg264Ter) duplication not provided [RCV001973123] Chr16:2040134..2040135 [GRCh38]
Chr16:2090135..2090136 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_002528.7(NTHL1):c.704A>C (p.His235Pro) single nucleotide variant Familial adenomatous polyposis 3 [RCV003464370]|not provided [RCV001991935] Chr16:2040220 [GRCh38]
Chr16:2090221 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.799T>C (p.Trp267Arg) single nucleotide variant not provided [RCV001956717] Chr16:2040040 [GRCh38]
Chr16:2090041 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2089925)_(2090249_?)del deletion not provided [RCV002013604] Chr16:2089925..2090249 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.845G>A (p.Cys282Tyr) single nucleotide variant not provided [RCV001996233] Chr16:2039994 [GRCh38]
Chr16:2089995 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.4A>C (p.Thr2Pro) single nucleotide variant Familial adenomatous polyposis 3 [RCV004571927]|Hereditary cancer-predisposing syndrome [RCV002441174]|not provided [RCV002012638] Chr16:2047820 [GRCh38]
Chr16:2097821 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.791+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423280]|not provided [RCV002030872] Chr16:2040130 [GRCh38]
Chr16:2090131 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.52G>C (p.Gly18Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397984]|not provided [RCV001953321] Chr16:2047772 [GRCh38]
Chr16:2097773 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2089925)_(2098066_?)del deletion Tuberous sclerosis 2 [RCV001900298] Chr16:2089925..2098066 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.791G>A (p.Arg264Lys) single nucleotide variant not provided [RCV001975292] Chr16:2040133 [GRCh38]
Chr16:2090134 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2089925)_(2136390_?)dup duplication Tuberous sclerosis 2 [RCV001880693] Chr16:2089925..2136390 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.142A>G (p.Lys48Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398088]|not provided [RCV002011047] Chr16:2046340 [GRCh38]
Chr16:2096341 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.560T>C (p.Ile187Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359346]|not provided [RCV001921954] Chr16:2043692 [GRCh38]
Chr16:2093693 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.732C>A (p.Thr244=) single nucleotide variant not provided [RCV002190204] Chr16:2040192 [GRCh38]
Chr16:2090193 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.685+17G>A single nucleotide variant not provided [RCV002129925]|not specified [RCV002465923] Chr16:2043550 [GRCh38]
Chr16:2093551 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.526-13C>T single nucleotide variant not provided [RCV002170205] Chr16:2043739 [GRCh38]
Chr16:2093740 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.116-11G>A single nucleotide variant not provided [RCV002187536] Chr16:2046377 [GRCh38]
Chr16:2096378 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.685+13G>C single nucleotide variant not provided [RCV002210279] Chr16:2043554 [GRCh38]
Chr16:2093555 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.685+14G>A single nucleotide variant not provided [RCV002187584] Chr16:2043553 [GRCh38]
Chr16:2093554 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.792-5C>T single nucleotide variant not provided [RCV002148500] Chr16:2040052 [GRCh38]
Chr16:2090053 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.355-14C>T single nucleotide variant not provided [RCV002108929] Chr16:2044814 [GRCh38]
Chr16:2094815 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.115+8C>G single nucleotide variant not provided [RCV002146798] Chr16:2047701 [GRCh38]
Chr16:2097702 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.108T>G (p.Ala36=) single nucleotide variant not provided [RCV002210693] Chr16:2047716 [GRCh38]
Chr16:2097717 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.791+18dup duplication not provided [RCV002129168] Chr16:2040114..2040115 [GRCh38]
Chr16:2090115..2090116 [GRCh37]
Chr16:16p13.3		 benign
NM_002528.7(NTHL1):c.685+11G>T single nucleotide variant not provided [RCV002086253] Chr16:2043556 [GRCh38]
Chr16:2093557 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.33G>T (p.Arg11=) single nucleotide variant not provided [RCV002167344] Chr16:2047791 [GRCh38]
Chr16:2097792 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.720G>A (p.Arg240=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003289415]|not provided [RCV002071046] Chr16:2040204 [GRCh38]
Chr16:2090205 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.354+13C>T single nucleotide variant not provided [RCV002146222] Chr16:2046115 [GRCh38]
Chr16:2096116 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.354+16_354+19dup duplication not provided [RCV002209544]|not specified [RCV002268604] Chr16:2046108..2046109 [GRCh38]
Chr16:2096109..2096110 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.355-9C>T single nucleotide variant not provided [RCV002189826] Chr16:2044809 [GRCh38]
Chr16:2094810 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.63G>A (p.Pro21=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372979]|not provided [RCV002106578] Chr16:2047761 [GRCh38]
Chr16:2097762 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.558C>G (p.Ala186=) single nucleotide variant not provided [RCV002088609] Chr16:2043694 [GRCh38]
Chr16:2093695 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.685+12A>G single nucleotide variant not provided [RCV002071241] Chr16:2043555 [GRCh38]
Chr16:2093556 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.390C>T (p.Leu130=) single nucleotide variant not provided [RCV002073813] Chr16:2044765 [GRCh38]
Chr16:2094766 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.525+17G>A single nucleotide variant not provided [RCV002091851] Chr16:2044613 [GRCh38]
Chr16:2094614 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.249C>T (p.Asp83=) single nucleotide variant not provided [RCV002210713] Chr16:2046233 [GRCh38]
Chr16:2096234 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.354+20G>A single nucleotide variant not provided [RCV002165530] Chr16:2046108 [GRCh38]
Chr16:2096109 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.402C>T (p.Thr134=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331769]|not provided [RCV002074549] Chr16:2044753 [GRCh38]
Chr16:2094754 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.51C>G (p.Pro17=) single nucleotide variant not provided [RCV002084760] Chr16:2047773 [GRCh38]
Chr16:2097774 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.210G>A (p.Gly70=) single nucleotide variant not provided [RCV002168913] Chr16:2046272 [GRCh38]
Chr16:2096273 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.780G>A (p.Glu260=) single nucleotide variant not provided [RCV002206590] Chr16:2040144 [GRCh38]
Chr16:2090145 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.526-16C>G single nucleotide variant not provided [RCV002108043] Chr16:2043742 [GRCh38]
Chr16:2093743 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.528C>T (p.Ser176=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346542]|not provided [RCV002188724] Chr16:2043724 [GRCh38]
Chr16:2093725 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.791+16G>C single nucleotide variant not provided [RCV002109854] Chr16:2040117 [GRCh38]
Chr16:2090118 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.686-15T>C single nucleotide variant not provided [RCV002130062] Chr16:2040253 [GRCh38]
Chr16:2090254 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.561C>T (p.Ile187=) single nucleotide variant not provided [RCV002079625] Chr16:2043691 [GRCh38]
Chr16:2093692 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.646C>T (p.Leu216=) single nucleotide variant not provided [RCV002096836] Chr16:2043606 [GRCh38]
Chr16:2093607 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.525+10G>A single nucleotide variant not provided [RCV002146153] Chr16:2044620 [GRCh38]
Chr16:2094621 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_002528.7(NTHL1):c.792-11del deletion not provided [RCV002212289] Chr16:2040058 [GRCh38]
Chr16:2090059 [GRCh37]
Chr16:16p13.3		 benign
NM_002528.7(NTHL1):c.791+13G>A single nucleotide variant not provided [RCV002191751] Chr16:2040120 [GRCh38]
Chr16:2090121 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.897G>T (p.Pro299=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372855]|not provided [RCV002187292] Chr16:2039942 [GRCh38]
Chr16:2089943 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.116-12T>C single nucleotide variant not provided [RCV002172750] Chr16:2046378 [GRCh38]
Chr16:2096379 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.696G>T (p.Thr232=) single nucleotide variant not provided [RCV002193581] Chr16:2040228 [GRCh38]
Chr16:2090229 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.354+8G>A single nucleotide variant not provided [RCV002071385] Chr16:2046120 [GRCh38]
Chr16:2096121 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.207G>A (p.Glu69=) single nucleotide variant not provided [RCV002085063] Chr16:2046275 [GRCh38]
Chr16:2096276 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.300A>G (p.Ala100=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004641940]|not provided [RCV002196416] Chr16:2046182 [GRCh38]
Chr16:2096183 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.115+17G>A single nucleotide variant not provided [RCV002115021]|not specified [RCV002268624] Chr16:2047692 [GRCh38]
Chr16:2097693 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_002528.7(NTHL1):c.702G>T (p.Val234=) single nucleotide variant not provided [RCV002093253] Chr16:2040222 [GRCh38]
Chr16:2090223 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.-7G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004045841]|not provided [RCV002117146] Chr16:2047830 [GRCh38]
Chr16:2097831 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.234C>T (p.Val78=) single nucleotide variant not provided [RCV002197139] Chr16:2046248 [GRCh38]
Chr16:2096249 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.115+7C>T single nucleotide variant not provided [RCV002216109] Chr16:2047702 [GRCh38]
Chr16:2097703 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.513C>A (p.Val171=) single nucleotide variant not provided [RCV002131527] Chr16:2044642 [GRCh38]
Chr16:2094643 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.116-20C>A single nucleotide variant not provided [RCV002211607] Chr16:2046386 [GRCh38]
Chr16:2096387 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.792-19C>G single nucleotide variant not provided [RCV002173616] Chr16:2040066 [GRCh38]
Chr16:2090067 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.526-11C>T single nucleotide variant not provided [RCV002152329] Chr16:2043737 [GRCh38]
Chr16:2093738 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.791+17G>A single nucleotide variant not provided [RCV002095939] Chr16:2040116 [GRCh38]
Chr16:2090117 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.525+14G>A single nucleotide variant not provided [RCV002150420] Chr16:2044616 [GRCh38]
Chr16:2094617 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.792-16_792-11dup duplication not provided [RCV002115094] Chr16:2040057..2040058 [GRCh38]
Chr16:2090058..2090059 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.791+16G>A single nucleotide variant not provided [RCV002146011] Chr16:2040117 [GRCh38]
Chr16:2090118 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.489G>T (p.Thr163=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161622]|not provided [RCV002129063] Chr16:2044666 [GRCh38]
Chr16:2094667 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.792-11C>A single nucleotide variant not provided [RCV002115261] Chr16:2040058 [GRCh38]
Chr16:2090059 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.792-11C>T single nucleotide variant not provided [RCV002133209] Chr16:2040058 [GRCh38]
Chr16:2090059 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.354+9G>C single nucleotide variant not provided [RCV002195533] Chr16:2046119 [GRCh38]
Chr16:2096120 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.686-11C>T single nucleotide variant not provided [RCV002114045] Chr16:2040249 [GRCh38]
Chr16:2090250 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.888C>T (p.Ala296=) single nucleotide variant not provided [RCV002151950] Chr16:2039951 [GRCh38]
Chr16:2089952 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.686-18C>T single nucleotide variant not provided [RCV002215611] Chr16:2040256 [GRCh38]
Chr16:2090257 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.660G>A (p.Val220=) single nucleotide variant not provided [RCV002194862] Chr16:2043592 [GRCh38]
Chr16:2093593 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.686-17G>C single nucleotide variant not provided [RCV002073850] Chr16:2040255 [GRCh38]
Chr16:2090256 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.355-17T>C single nucleotide variant not provided [RCV002097856] Chr16:2044817 [GRCh38]
Chr16:2094818 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.468C>A (p.Ile156=) single nucleotide variant not provided [RCV002141264] Chr16:2044687 [GRCh38]
Chr16:2094688 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.669C>T (p.Gly223=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361449]|not provided [RCV002200331] Chr16:2043583 [GRCh38]
Chr16:2093584 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.45G>T (p.Leu15=) single nucleotide variant not provided [RCV002221107] Chr16:2047779 [GRCh38]
Chr16:2097780 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.686-17G>A single nucleotide variant not provided [RCV002142704] Chr16:2040255 [GRCh38]
Chr16:2090256 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.234dup (p.Trp79fs) duplication Hereditary cancer-predisposing syndrome [RCV002257312] Chr16:2046247..2046248 [GRCh38]
Chr16:2096248..2096249 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_002528.7(NTHL1):c.135C>T (p.Ser45=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258605] Chr16:2046347 [GRCh38]
Chr16:2096348 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.759G>A (p.Glu253=) single nucleotide variant not provided [RCV002176916] Chr16:2040165 [GRCh38]
Chr16:2090166 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.686-18C>A single nucleotide variant not provided [RCV002153966] Chr16:2040256 [GRCh38]
Chr16:2090257 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.435A>G (p.Arg145=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003355821]|not provided [RCV002154318] Chr16:2044720 [GRCh38]
Chr16:2094721 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.354+11G>A single nucleotide variant not provided [RCV002160125] Chr16:2046117 [GRCh38]
Chr16:2096118 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.42C>T (p.Ser14=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361453]|not provided [RCV002198180] Chr16:2047782 [GRCh38]
Chr16:2097783 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.685+16C>T single nucleotide variant not provided [RCV002139601] Chr16:2043551 [GRCh38]
Chr16:2093552 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.451C>T (p.Leu151=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337364]|not provided [RCV002136074] Chr16:2044704 [GRCh38]
Chr16:2094705 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.685+8G>C single nucleotide variant not provided [RCV002217315] Chr16:2043559 [GRCh38]
Chr16:2093560 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.791+13G>T single nucleotide variant not provided [RCV002084389] Chr16:2040120 [GRCh38]
Chr16:2090121 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.792-14C>T single nucleotide variant not provided [RCV002140171] Chr16:2040061 [GRCh38]
Chr16:2090062 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.115+14G>A single nucleotide variant not provided [RCV002142156] Chr16:2047695 [GRCh38]
Chr16:2097696 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.768C>A (p.Ala256=) single nucleotide variant not provided [RCV002183955] Chr16:2040156 [GRCh38]
Chr16:2090157 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.84C>T (p.Pro28=) single nucleotide variant not provided [RCV002099084] Chr16:2047740 [GRCh38]
Chr16:2097741 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.492G>T (p.Leu164=) single nucleotide variant not provided [RCV002164555] Chr16:2044663 [GRCh38]
Chr16:2094664 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.582G>T (p.Gly194=) single nucleotide variant not provided [RCV002159253] Chr16:2043670 [GRCh38]
Chr16:2093671 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.672T>C (p.Thr224=) single nucleotide variant not provided [RCV002159276] Chr16:2043580 [GRCh38]
Chr16:2093581 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.405A>G (p.Lys135=) single nucleotide variant not provided [RCV002157513] Chr16:2044750 [GRCh38]
Chr16:2094751 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.355-6A>G single nucleotide variant not provided [RCV002157812] Chr16:2044806 [GRCh38]
Chr16:2094807 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.526-12C>A single nucleotide variant not provided [RCV002180516] Chr16:2043738 [GRCh38]
Chr16:2093739 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.116-13G>T single nucleotide variant not provided [RCV002081729] Chr16:2046379 [GRCh38]
Chr16:2096380 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.355-20C>T single nucleotide variant not provided [RCV002100533] Chr16:2044820 [GRCh38]
Chr16:2094821 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.792-19C>T single nucleotide variant not provided [RCV002182991] Chr16:2040066 [GRCh38]
Chr16:2090067 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.171T>C (p.Arg57=) single nucleotide variant not provided [RCV002083932] Chr16:2046311 [GRCh38]
Chr16:2096312 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.685+20G>A single nucleotide variant not provided [RCV002084132] Chr16:2043547 [GRCh38]
Chr16:2093548 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.156A>G (p.Lys52=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004046405]|not provided [RCV002158121] Chr16:2046326 [GRCh38]
Chr16:2096327 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.116-16G>A single nucleotide variant not provided [RCV002179443]|not specified [RCV002268600] Chr16:2046382 [GRCh38]
Chr16:2096383 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.526-12C>G single nucleotide variant not provided [RCV002156118] Chr16:2043738 [GRCh38]
Chr16:2093739 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.231A>G (p.Pro77=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256925]|not provided [RCV002183399] Chr16:2046251 [GRCh38]
Chr16:2096252 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.354+11G>C single nucleotide variant not provided [RCV002159731] Chr16:2046117 [GRCh38]
Chr16:2096118 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.791+13G>C single nucleotide variant not provided [RCV002141719] Chr16:2040120 [GRCh38]
Chr16:2090121 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.355-11T>G single nucleotide variant not provided [RCV002157377] Chr16:2044811 [GRCh38]
Chr16:2094812 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.116-11G>T single nucleotide variant not provided [RCV002139954] Chr16:2046377 [GRCh38]
Chr16:2096378 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.791+14G>A single nucleotide variant not provided [RCV002182267] Chr16:2040119 [GRCh38]
Chr16:2090120 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.738G>A (p.Lys246=) single nucleotide variant not provided [RCV002204459] Chr16:2040186 [GRCh38]
Chr16:2090187 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.372G>A (p.Val124=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352914]|not provided [RCV002138673] Chr16:2044783 [GRCh38]
Chr16:2094784 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2093548)_(2113074_?)del deletion Tuberous sclerosis 2 [RCV003111426] Chr16:2093548..2113074 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2089925)_(2105540_?)del deletion Tuberous sclerosis 2 [RCV003111427] Chr16:2089925..2105540 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2089925)_(2107460_?)del deletion Tuberous sclerosis 2 [RCV003111428] Chr16:2089925..2107460 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2089925)_(2114438_?)dup duplication Tuberous sclerosis 2 [RCV003111437] Chr16:2089925..2114438 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2089925)_(2100497_?)dup duplication Tuberous sclerosis 2 [RCV003111438] Chr16:2089925..2100497 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2089925)_(2131809_?)dup duplication Tuberous sclerosis 2 [RCV003111439] Chr16:2089925..2131809 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2093548)_(2104461_?)dup duplication Tuberous sclerosis 2 [RCV003111440] Chr16:2093548..2104461 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2079753)_(2100460_?)del deletion Tuberous sclerosis 2 [RCV003111445] Chr16:2079753..2100460 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2089925)_(2098067_?)dup duplication Tuberous sclerosis 2 [RCV003105249] Chr16:2089925..2098067 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.616C>T (p.Leu206=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257315]|not provided [RCV003107975] Chr16:2043636 [GRCh38]
Chr16:2093637 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.229C>T (p.Pro77Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257311] Chr16:2046253 [GRCh38]
Chr16:2096254 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002528.7(NTHL1):c.314T>C (p.Leu105Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258607] Chr16:2046168 [GRCh38]
Chr16:2096169 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.749C>T (p.Ser250Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257316] Chr16:2040175 [GRCh38]
Chr16:2090176 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.355-37C>T single nucleotide variant not specified [RCV002269031] Chr16:2044837 [GRCh38]
Chr16:2094838 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.225G>C (p.Lys75Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427745]|not specified [RCV002269033] Chr16:2046257 [GRCh38]
Chr16:2096258 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.2047157_2220112del deletion Tuberous sclerosis 2 [RCV002267195] Chr16:2047157..2220112 [GRCh38]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.*30T>C single nucleotide variant not specified [RCV002269026] Chr16:2039894 [GRCh38]
Chr16:2089895 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.115+24C>T single nucleotide variant not specified [RCV002269034] Chr16:2047685 [GRCh38]
Chr16:2097686 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.1903155_2093402del deletion Tuberous sclerosis 2 [RCV002267197] Chr16:1903155..2093402 [GRCh38]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.526-44G>C single nucleotide variant not specified [RCV002269029] Chr16:2043770 [GRCh38]
Chr16:2093771 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.261G>A (p.Gln87=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435466] Chr16:2046221 [GRCh38]
Chr16:2096222 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.339C>T (p.Ser113=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452416] Chr16:2046143 [GRCh38]
Chr16:2096144 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.778G>A (p.Glu260Lys) single nucleotide variant Familial adenomatous polyposis 3 [RCV003464489]|Hereditary cancer-predisposing syndrome [RCV002419288]|not provided [RCV003560987] Chr16:2040146 [GRCh38]
Chr16:2090147 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.12G>A (p.Leu4=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348908] Chr16:2047812 [GRCh38]
Chr16:2097813 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.341G>C (p.Ser114Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452545]|not provided [RCV003094284] Chr16:2046141 [GRCh38]
Chr16:2096142 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.787C>T (p.Pro263Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421281] Chr16:2040137 [GRCh38]
Chr16:2090138 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.276T>G (p.Arg92=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435775] Chr16:2046206 [GRCh38]
Chr16:2096207 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.246G>A (p.Gln82=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437442] Chr16:2046236 [GRCh38]
Chr16:2096237 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.531G>A (p.Lys177=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351981] Chr16:2043721 [GRCh38]
Chr16:2093722 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.11T>G (p.Leu4Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455198]|not provided [RCV003099609] Chr16:2047813 [GRCh38]
Chr16:2097814 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.526-12_526-11del deletion not specified [RCV002269028] Chr16:2043737..2043738 [GRCh38]
Chr16:2093738..2093739 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.355-34G>A single nucleotide variant not specified [RCV002269030] Chr16:2044834 [GRCh38]
Chr16:2094835 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.309C>T (p.Asp103=) single nucleotide variant not specified [RCV002269032] Chr16:2046173 [GRCh38]
Chr16:2096174 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.643C>T (p.His215Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367005] Chr16:2043609 [GRCh38]
Chr16:2093610 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.334G>T (p.Asp112Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455131] Chr16:2046148 [GRCh38]
Chr16:2096149 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.641C>T (p.Ala214Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366893]|not provided [RCV003098324] Chr16:2043611 [GRCh38]
Chr16:2093612 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.610G>T (p.Val204Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368975] Chr16:2043642 [GRCh38]
Chr16:2093643 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1 copy number loss not provided [RCV002472534] Chr16:2021144..2266791 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002528.7(NTHL1):c.278C>T (p.Ala93Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435984]|not provided [RCV003102989] Chr16:2046204 [GRCh38]
Chr16:2096205 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.6(NTHL1):c.2T>G (p.Met1Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435653]|not provided [RCV003102963] Chr16:2047846 [GRCh38]
Chr16:2097847 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.639G>A (p.Met213Ile) single nucleotide variant Familial adenomatous polyposis 3 [RCV003464477]|Hereditary cancer-predisposing syndrome [RCV002366793]|not provided [RCV003688981] Chr16:2043613 [GRCh38]
Chr16:2093614 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.792-1G>A single nucleotide variant Familial adenomatous polyposis 3 [RCV003471361]|Hereditary cancer-predisposing syndrome [RCV002421437]|not provided [RCV003669292] Chr16:2040048 [GRCh38]
Chr16:2090049 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_002528.7(NTHL1):c.323A>G (p.Glu108Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454624]|not provided [RCV002299324] Chr16:2046159 [GRCh38]
Chr16:2096160 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.354+4G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351142] Chr16:2046124 [GRCh38]
Chr16:2096125 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.725G>A (p.Arg242Lys) single nucleotide variant not provided [RCV002297550] Chr16:2040199 [GRCh38]
Chr16:2090200 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.792-4A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421444] Chr16:2040051 [GRCh38]
Chr16:2090052 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.792-5C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421447]|not provided [RCV003099852] Chr16:2040052 [GRCh38]
Chr16:2090053 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_002528.7(NTHL1):c.792-5C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421448] Chr16:2040052 [GRCh38]
Chr16:2090053 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.646C>G (p.Leu216Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367194] Chr16:2043606 [GRCh38]
Chr16:2093607 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.479ATG[1] (p.Asp161del) microsatellite Hereditary cancer-predisposing syndrome [RCV002351442]|not provided [RCV003688978] Chr16:2044671..2044673 [GRCh38]
Chr16:2094672..2094674 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.30C>A (p.Thr10=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351627]|not provided [RCV003096771] Chr16:2047794 [GRCh38]
Chr16:2097795 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.792G>A (p.Arg264=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421476] Chr16:2040047 [GRCh38]
Chr16:2090048 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.30C>T (p.Thr10=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351634] Chr16:2047794 [GRCh38]
Chr16:2097795 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.526-2A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351678] Chr16:2043728 [GRCh38]
Chr16:2093729 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.604G>C (p.Glu202Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368736] Chr16:2043648 [GRCh38]
Chr16:2093649 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.240G>A (p.Glu80=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453054] Chr16:2046242 [GRCh38]
Chr16:2096243 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.517T>G (p.Phe173Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349494] Chr16:2044638 [GRCh38]
Chr16:2094639 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.343G>C (p.Ala115Pro) single nucleotide variant not provided [RCV002681456] Chr16:2046139 [GRCh38]
Chr16:2096140 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002528.7(NTHL1):c.543C>T (p.Ile181=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347410] Chr16:2043709 [GRCh38]
Chr16:2093710 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.526-36del deletion not specified [RCV002466158] Chr16:2043762 [GRCh38]
Chr16:2093763 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.*31G>A single nucleotide variant not specified [RCV002466155] Chr16:2039893 [GRCh38]
Chr16:2089894 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002528.7(NTHL1):c.436C>T (p.Leu146=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342439] Chr16:2044719 [GRCh38]
Chr16:2094720 [GRCh37]
Chr16:16p13.3		 likely benign