LOC130004273 (ATAC-STARR-seq lymphoblastoid silent region 2585) - Rat Genome Database

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Gene: LOC130004273 (ATAC-STARR-seq lymphoblastoid silent region 2585) Homo sapiens
Analyze
Symbol: LOC130004273
Name: ATAC-STARR-seq lymphoblastoid silent region 2585
RGD ID: 329838636
Description: This genomic sequence represents an accessible chromatin region that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381087,863,380 - 87,863,689 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01088,747,283 - 88,747,592 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Prostate cancer  (IAGP)
Seizure  (IAGP)
References
Additional References at PubMed
PMID:35858748  


Genomics

Variants

.
Variants in LOC130004273
248 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000314.8(PTEN):c.-814G>A single nucleotide variant not provided [RCV000215181]|not specified [RCV002222453] Chr10:87863656 [GRCh38]
Chr10:89623413 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-903G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371971]|PTEN hamartoma tumor syndrome [RCV000710303]|not provided [RCV000760054]|not specified [RCV000127650] Chr10:87863566 [GRCh38]
Chr10:89623323 [GRCh37]
Chr10:10q23.31		 benign|uncertain significance
NM_000314.6(PTEN):c.-909T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000115576]|Macrocephaly-autism syndrome [RCV002490774]|PTEN hamartoma tumor syndrome [RCV000758225]|not provided [RCV000589607]|not specified [RCV000258978] Chr10:87863560 [GRCh38]
Chr10:89623317 [GRCh37]
Chr10:10q23.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001126049.2(KLLN):c.-973G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016977]|not specified [RCV000506383] Chr10:87863460 [GRCh38]
Chr10:89623217 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-871C>T single nucleotide variant not provided [RCV001352919] Chr10:87863598 [GRCh38]
Chr10:89623355 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-995G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164742]|not provided [RCV000507283] Chr10:87863482 [GRCh38]
Chr10:89623239 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1035C>T single nucleotide variant not provided [RCV001570378] Chr10:87863522 [GRCh38]
Chr10:89623279 [GRCh37]
Chr10:10q23.31		 likely benign
NM_000314.6(PTEN):c.-920G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256091]|PTEN hamartoma tumor syndrome [RCV000709127]|not provided [RCV000590720]|not specified [RCV001526862] Chr10:87863549 [GRCh38]
Chr10:89623306 [GRCh37]
Chr10:10q23.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001126049.2(KLLN):c.-1031G>A single nucleotide variant not specified [RCV001192922] Chr10:87863518 [GRCh38]
Chr10:89623275 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-994G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383921]|not specified [RCV000481923] Chr10:87863481 [GRCh38]
Chr10:89623238 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.87863568G>C single nucleotide variant not provided [RCV001794741] Chr10:87863568 [GRCh38]
Chr10:89623325 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1007C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000115580]|PTEN hamartoma tumor syndrome [RCV000790889]|Seizure [RCV000781947]|not provided [RCV000589059]|not specified [RCV000252011] Chr10:87863494 [GRCh38]
Chr10:89623251 [GRCh37]
Chr10:10q23.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000314.8(PTEN):c.-815T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256400]|not provided [RCV000579369] Chr10:87863655 [GRCh38]
Chr10:89623412 [GRCh37]
Chr10:10q23.31		 likely benign|uncertain significance
NC_000010.11:g.87863601G>A single nucleotide variant not provided [RCV002267534] Chr10:87863601 [GRCh38]
Chr10:89623358 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1007C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256044]|PTEN hamartoma tumor syndrome [RCV001078168]|not provided [RCV000587663]|not specified [RCV001818272] Chr10:87863494 [GRCh38]
Chr10:89623251 [GRCh37]
Chr10:10q23.31		 benign|likely benign|uncertain significance
NM_000314.6(PTEN):c.-1059C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003482138]|PTEN hamartoma tumor syndrome [RCV000710302]|not provided [RCV000588148] Chr10:87863410 [GRCh38]
Chr10:89623167 [GRCh37]
Chr10:10q23.31		 benign|likely benign|uncertain significance
NC_000010.11:g.87863554C>A single nucleotide variant not provided [RCV001586903] Chr10:87863554 [GRCh38]
Chr10:89623311 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-822G>C single nucleotide variant not provided [RCV000115570] Chr10:87863648 [GRCh38]
Chr10:89623405 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-856C>G single nucleotide variant not provided [RCV000760051]|not specified [RCV001193508] Chr10:87863613 [GRCh38]
Chr10:89623370 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-832G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130301] Chr10:87863638 [GRCh38]
Chr10:89623395 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-836T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130962] Chr10:87863634 [GRCh38]
Chr10:89623391 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.87863553G>C single nucleotide variant not provided [RCV001753320] Chr10:87863553 [GRCh38]
Chr10:89623310 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-962G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009727]|not specified [RCV000487327] Chr10:87863449 [GRCh38]
Chr10:89623206 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-930G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130338]|PTEN hamartoma tumor syndrome [RCV002286570]|not provided [RCV001284224] Chr10:87863539 [GRCh38]
Chr10:89623296 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.87863567G>T single nucleotide variant not provided [RCV001769556] Chr10:87863567 [GRCh38]
Chr10:89623324 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-956G>T single nucleotide variant Cowden syndrome 4 [RCV001803005]|Hereditary cancer-predisposing syndrome [RCV002258808]|PTEN hamartoma tumor syndrome [RCV000710301]|not provided [RCV001723700]|not specified [RCV000127649] Chr10:87863443 [GRCh38]
Chr10:89623200 [GRCh37]
Chr10:10q23.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000314.6(PTEN):c.-927C>G single nucleotide variant not specified [RCV001193510] Chr10:87863542 [GRCh38]
Chr10:89623299 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-920G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009793]|not specified [RCV000482449] Chr10:87863407 [GRCh38]
Chr10:89623164 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-949CAGGG[4] microsatellite Hereditary cancer-predisposing syndrome [RCV000129145]|not provided [RCV000760046]|not specified [RCV003488396] Chr10:87863421..87863422 [GRCh38]
Chr10:89623178..89623179 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-899_-878dup duplication Hereditary cancer-predisposing syndrome [RCV002370017]|not provided [RCV000760053] Chr10:87863566..87863567 [GRCh38]
Chr10:89623323..89623324 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1009A>C single nucleotide variant not provided [RCV000760056] Chr10:87863496 [GRCh38]
Chr10:89623253 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-902G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130194]|not provided [RCV000759323] Chr10:87863389 [GRCh38]
Chr10:89623146 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-862G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129879]|not provided [RCV002051812] Chr10:87863607 [GRCh38]
Chr10:89623364 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-835C>T single nucleotide variant Cowden syndrome 1 [RCV000662492]|Hereditary cancer-predisposing syndrome [RCV000115571]|Macrocephaly-autism syndrome [RCV002477277]|PTEN hamartoma tumor syndrome [RCV002286567]|not provided [RCV000732321]|not specified [RCV001193512] Chr10:87863635 [GRCh38]
Chr10:89623392 [GRCh37]
Chr10:10q23.31		 likely benign|uncertain significance
NM_000314.8(PTEN):c.-840C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130269] Chr10:87863630 [GRCh38]
Chr10:89623387 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-851C>A single nucleotide variant not provided [RCV001806491]|not specified [RCV003479354] Chr10:87863619 [GRCh38]
Chr10:89623376 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-908C>T single nucleotide variant not provided [RCV000759322] Chr10:87863395 [GRCh38]
Chr10:89623152 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-849G>A single nucleotide variant not provided [RCV003328073] Chr10:87863620 [GRCh38]
Chr10:89623377 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-952G>A single nucleotide variant not specified [RCV003317726] Chr10:87863439 [GRCh38]
Chr10:89623196 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-951G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009730]|not specified [RCV000481916] Chr10:87863438 [GRCh38]
Chr10:89623195 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1037C>T single nucleotide variant not provided [RCV001507279]|not specified [RCV000484771] Chr10:87863524 [GRCh38]
Chr10:89623281 [GRCh37]
Chr10:10q23.31		 uncertain significance|no classifications from unflagged records
NM_001126049.2(KLLN):c.-1007C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019726]|not specified [RCV000484836] Chr10:87863494 [GRCh38]
Chr10:89623251 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.87863553G>A single nucleotide variant not provided [RCV001570389] Chr10:87863553 [GRCh38]
Chr10:89623310 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-912T>C single nucleotide variant not provided [RCV000579322]|not specified [RCV001192924] Chr10:87863557 [GRCh38]
Chr10:89623314 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-929G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377199]|not provided [RCV000578958]|not specified [RCV001194182] Chr10:87863540 [GRCh38]
Chr10:89623297 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-906C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130575]|not provided [RCV000258976] Chr10:87863393 [GRCh38]
Chr10:89623150 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-897C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130379]|not provided [RCV000578749] Chr10:87863572 [GRCh38]
Chr10:89623329 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-901delG deletion Hereditary cancer-predisposing syndrome [RCV001018685]|not provided [RCV003235447] Chr10:87863566 [GRCh38]
Chr10:89623323 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1032C>T single nucleotide variant not provided [RCV003152281] Chr10:87863519 [GRCh38]
Chr10:89623276 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1010G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129678]|not provided [RCV000578949] Chr10:87863497 [GRCh38]
Chr10:89623254 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1034G>A single nucleotide variant not provided [RCV001840920] Chr10:87863521 [GRCh38]
Chr10:89623278 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-935G>T single nucleotide variant not provided [RCV000589665] Chr10:87863422 [GRCh38]
Chr10:89623179 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-933G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377240]|not provided [RCV000598726] Chr10:87863536 [GRCh38]
Chr10:89623293 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-918A>G single nucleotide variant not provided [RCV000599019] Chr10:87863405 [GRCh38]
Chr10:89623162 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-913G>A single nucleotide variant not specified [RCV000594955] Chr10:87863400 [GRCh38]
Chr10:89623157 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-914_-889del deletion Hereditary cancer-predisposing syndrome [RCV000169828]|PTEN-related condition [RCV003416056]|not provided [RCV000588635] Chr10:87863376..87863401 [GRCh38]
Chr10:89623133..89623158 [GRCh37]
Chr10:10q23.31		 likely benign|uncertain significance
NM_000314.6(PTEN):c.-904C>A single nucleotide variant not provided [RCV000588831] Chr10:87863565 [GRCh38]
Chr10:89623322 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-963G>A single nucleotide variant not provided [RCV000586253] Chr10:87863450 [GRCh38]
Chr10:89623207 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-799G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000115569]|PTEN hamartoma tumor syndrome [RCV000232535]|not provided [RCV000258981]|not specified [RCV001804844] Chr10:87863671 [GRCh38]
Chr10:89623428 [GRCh37]
Chr10:10q23.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000314.8(PTEN):c.-844T>C single nucleotide variant Bannayan-Riley-Ruvalcaba syndrome [RCV003483475]|PTEN hamartoma tumor syndrome [RCV001854554]|not provided [RCV000115572] Chr10:87863626 [GRCh38]
Chr10:89623383 [GRCh37]
Chr10:10q23.31		 uncertain significance|not provided
NM_001126049.2(KLLN):c.-1029G>C single nucleotide variant not provided [RCV000590579] Chr10:87863516 [GRCh38]
Chr10:89623273 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.7(PTEN):c.-933G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166717]|not specified [RCV001818393] Chr10:87863536 [GRCh38]
Chr10:89623293 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-934G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166883] Chr10:87863535 [GRCh38]
Chr10:89623292 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.7(PTEN):c.-861G>T single nucleotide variant Cowden syndrome 1 [RCV000008295]|PTEN hamartoma tumor syndrome [RCV000790894] Chr10:87863608 [GRCh38]
Chr10:89623365 [GRCh37]
Chr10:10q23.31		 pathogenic|uncertain significance
NM_000314.8(PTEN):c.-821C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027285] Chr10:87863649 [GRCh38]
Chr10:89623406 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-856C>T single nucleotide variant not provided [RCV000586330] Chr10:87863613 [GRCh38]
Chr10:89623370 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-917G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018962]|not provided [RCV000588712] Chr10:87863552 [GRCh38]
Chr10:89623309 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1027G>C single nucleotide variant not provided [RCV000599071] Chr10:87863514 [GRCh38]
Chr10:89623271 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-987G>A single nucleotide variant not provided [RCV000599388] Chr10:87863474 [GRCh38]
Chr10:89623231 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-903G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164983] Chr10:87863390 [GRCh38]
Chr10:89623147 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-887T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000132343] Chr10:87863582 [GRCh38]
Chr10:89623339 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-921G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000167087]|not provided [RCV001800504]|not specified [RCV000583400] Chr10:87863548 [GRCh38]
Chr10:89623305 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-995_-985dup duplication Hereditary cancer-predisposing syndrome [RCV000132374]|not provided [RCV000598692] Chr10:87863471..87863472 [GRCh38]
Chr10:89623228..89623229 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-858C>G single nucleotide variant not provided [RCV000587857] Chr10:87863611 [GRCh38]
Chr10:89623368 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-901G>A single nucleotide variant not provided [RCV000586797] Chr10:87863568 [GRCh38]
Chr10:89623325 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-972G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016990]|not provided [RCV000586367] Chr10:87863459 [GRCh38]
Chr10:89623216 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-802G>A single nucleotide variant PTEN hamartoma tumor syndrome [RCV000988410]|not specified [RCV000222615] Chr10:87863668 [GRCh38]
Chr10:89623425 [GRCh37]
Chr10:10q23.31		 likely benign|uncertain significance
NM_001126049.2(KLLN):c.-907T>G single nucleotide variant not provided [RCV000578975] Chr10:87863394 [GRCh38]
Chr10:89623151 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-898G>C single nucleotide variant not provided [RCV000579030] Chr10:87863385 [GRCh38]
Chr10:89623142 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-899C>A single nucleotide variant not provided [RCV000579364] Chr10:87863386 [GRCh38]
Chr10:89623143 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.(?_86755016)_(87965482_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000818563] Chr10:86755016..87965482 [GRCh38]
Chr10:88514773..89725239 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic
NM_001126049.2(KLLN):c.-993A>G single nucleotide variant not provided [RCV000169869] Chr10:87863480 [GRCh38]
Chr10:89623237 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-902G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009844] Chr10:87863389 [GRCh38]
Chr10:89623146 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-892T>C single nucleotide variant not provided [RCV000169883] Chr10:87863577 [GRCh38]
Chr10:89623334 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-868G>T single nucleotide variant not provided [RCV000169885] Chr10:87863601 [GRCh38]
Chr10:89623358 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-854A>T single nucleotide variant not provided [RCV000579128] Chr10:87863615 [GRCh38]
Chr10:89623372 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-903_-882dup duplication PTEN-related condition [RCV003416057]|not provided [RCV000169829]|not specified [RCV001731501] Chr10:87863562..87863563 [GRCh38]
Chr10:89623319..89623320 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-949CAGGG[1] microsatellite Hereditary cancer-predisposing syndrome [RCV001017110] Chr10:87863422..87863431 [GRCh38]
Chr10:89623179..89623188 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-930G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017144] Chr10:87863417 [GRCh38]
Chr10:89623174 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-862G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018104] Chr10:87863607 [GRCh38]
Chr10:89623364 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.(?_87863171)_(87864558_?)del deletion PTEN hamartoma tumor syndrome [RCV000708458] Chr10:87863171..87864558 [GRCh38]
Chr10:89622928..89624315 [GRCh37]
Chr10:10q23.31		 pathogenic
NM_000314.6(PTEN):c.-902G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018686] Chr10:87863567 [GRCh38]
Chr10:89623324 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-903_-902insACTCTTTATGCGCTGCGGCAG insertion Hereditary cancer-predisposing syndrome [RCV001018687] Chr10:87863565..87863566 [GRCh38]
Chr10:89623322..89623323 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-903_-882del22 deletion Hereditary cancer-predisposing syndrome [RCV001018698] Chr10:87863563..87863584 [GRCh38]
Chr10:89623320..89623341 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-906G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018793]|not provided [RCV001759702] Chr10:87863563 [GRCh38]
Chr10:89623320 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1025C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019509] Chr10:87863512 [GRCh38]
Chr10:89623269 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1022G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019552] Chr10:87863509 [GRCh38]
Chr10:89623266 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1013G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019633] Chr10:87863500 [GRCh38]
Chr10:89623257 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1003G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019762] Chr10:87863490 [GRCh38]
Chr10:89623247 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1003G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019764] Chr10:87863490 [GRCh38]
Chr10:89623247 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-939C>A single nucleotide variant not provided [RCV000578620] Chr10:87863426 [GRCh38]
Chr10:89623183 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-932G>A single nucleotide variant not provided [RCV000578716]|not specified [RCV001821692] Chr10:87863537 [GRCh38]
Chr10:89623294 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001304717.4(PTEN):c.-332G>A single nucleotide variant not provided [RCV000215157]|not specified [RCV003401154] Chr10:87863618 [GRCh38]
Chr10:89623375 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-977G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016963] Chr10:87863464 [GRCh38]
Chr10:89623221 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-850C>T single nucleotide variant not provided [RCV000218385]|not specified [RCV003387814] Chr10:87863619 [GRCh38]
Chr10:89623376 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-862G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372236]|not provided [RCV000216376] Chr10:87863607 [GRCh38]
Chr10:89623364 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-819A>G single nucleotide variant not provided [RCV000579026]|not specified [RCV003155238] Chr10:87863651 [GRCh38]
Chr10:89623408 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-915C>T single nucleotide variant not provided [RCV000578914] Chr10:87863554 [GRCh38]
Chr10:89623311 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1027G>T single nucleotide variant not provided [RCV000579033]|not specified [RCV001821693] Chr10:87863514 [GRCh38]
Chr10:89623271 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-923C>T single nucleotide variant not provided [RCV000169881]|not specified [RCV001582666] Chr10:87863546 [GRCh38]
Chr10:89623303 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-797G>T single nucleotide variant not provided [RCV000169888] Chr10:87863673 [GRCh38]
Chr10:89623430 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-795C>G single nucleotide variant not provided [RCV000169889] Chr10:87863675 [GRCh38]
Chr10:89623432 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-905dup duplication Hereditary cancer-predisposing syndrome [RCV001018775] Chr10:87863562..87863563 [GRCh38]
Chr10:89623319..89623320 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-864C>T single nucleotide variant not provided [RCV000578517] Chr10:87863605 [GRCh38]
Chr10:89623362 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1027G>A single nucleotide variant not provided [RCV000578642]|not specified [RCV001532972] Chr10:87863514 [GRCh38]
Chr10:89623271 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-925G>A single nucleotide variant not provided [RCV000578833] Chr10:87863544 [GRCh38]
Chr10:89623301 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1025C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019508] Chr10:87863512 [GRCh38]
Chr10:89623269 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-991G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019892] Chr10:87863478 [GRCh38]
Chr10:89623235 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-863T>C single nucleotide variant not provided [RCV000579228] Chr10:87863606 [GRCh38]
Chr10:89623363 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1040C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372062]|not provided [RCV000169880] Chr10:87863527 [GRCh38]
Chr10:89623284 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-868_-846dup duplication Hereditary cancer-predisposing syndrome [RCV000169830] Chr10:87863594..87863595 [GRCh38]
Chr10:89623351..89623352 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-903G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018697] Chr10:87863566 [GRCh38]
Chr10:89623323 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-925G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019097] Chr10:87863544 [GRCh38]
Chr10:89623301 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1009A>T single nucleotide variant not provided [RCV000578813] Chr10:87863496 [GRCh38]
Chr10:89623253 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-852T>A single nucleotide variant not provided [RCV000578845] Chr10:87863617 [GRCh38]
Chr10:89623374 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-872G>A single nucleotide variant not provided [RCV000578916] Chr10:87863597 [GRCh38]
Chr10:89623354 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-990C>G single nucleotide variant not provided [RCV000579025] Chr10:87863477 [GRCh38]
Chr10:89623234 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-997C>T single nucleotide variant not provided [RCV000579378] Chr10:87863484 [GRCh38]
Chr10:89623241 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-897A>G single nucleotide variant PTEN hamartoma tumor syndrome [RCV000210516] Chr10:87863384 [GRCh38]
Chr10:89623141 [GRCh37]
Chr10:10q23.31		 benign
NM_001126049.2(KLLN):c.-1021del deletion Hereditary cancer-predisposing syndrome [RCV001019571] Chr10:87863508 [GRCh38]
Chr10:89623265 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-920G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009819] Chr10:87863407 [GRCh38]
Chr10:89623164 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-940G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009782] Chr10:87863427 [GRCh38]
Chr10:89623184 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-956G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017016] Chr10:87863443 [GRCh38]
Chr10:89623200 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-945G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017097] Chr10:87863432 [GRCh38]
Chr10:89623189 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-925A>C single nucleotide variant not provided [RCV000578559] Chr10:87863412 [GRCh38]
Chr10:89623169 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-908C>G single nucleotide variant not provided [RCV000578616] Chr10:87863395 [GRCh38]
Chr10:89623152 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-912G>A single nucleotide variant not provided [RCV000578824] Chr10:87863399 [GRCh38]
Chr10:89623156 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-927C>T single nucleotide variant not provided [RCV000578981] Chr10:87863542 [GRCh38]
Chr10:89623299 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-866C>T single nucleotide variant not specified [RCV000578577] Chr10:87863603 [GRCh38]
Chr10:89623360 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-848C>T single nucleotide variant not provided [RCV000578807] Chr10:87863621 [GRCh38]
Chr10:89623378 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-925A>T single nucleotide variant PTEN-related condition [RCV003983131]|not provided [RCV000578665] Chr10:87863412 [GRCh38]
Chr10:89623169 [GRCh37]
Chr10:10q23.31		 likely benign|uncertain significance
NM_000314.6(PTEN):c.-890C>T single nucleotide variant not provided [RCV000578680] Chr10:87863579 [GRCh38]
Chr10:89623336 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1019G>C single nucleotide variant not provided [RCV000578863] Chr10:87863506 [GRCh38]
Chr10:89623263 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-861G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018093]|not provided [RCV001800926] Chr10:87863608 [GRCh38]
Chr10:89623365 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-938A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003482137]|not provided [RCV000169863] Chr10:87863425 [GRCh38]
Chr10:89623182 [GRCh37]
Chr10:10q23.31		 likely benign|uncertain significance
NM_001126049.2(KLLN):c.-1037C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019371]|not provided [RCV000579184] Chr10:87863524 [GRCh38]
Chr10:89623281 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-869C>T single nucleotide variant not provided [RCV000169884] Chr10:87863600 [GRCh38]
Chr10:89623357 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-861G>C single nucleotide variant not provided [RCV000169886] Chr10:87863608 [GRCh38]
Chr10:89623365 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1042G>A single nucleotide variant not provided [RCV000579127] Chr10:87863529 [GRCh38]
Chr10:89623286 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-980G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009637]|not provided [RCV000579122] Chr10:87863467 [GRCh38]
Chr10:89623224 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-917G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378896] Chr10:87863552 [GRCh38]
Chr10:89623309 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-959GAGGG[3] microsatellite not provided [RCV000598727] Chr10:87863436..87863437 [GRCh38]
Chr10:89623193..89623194 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-780_-765dup duplication not provided [RCV000598869] Chr10:87863681..87863682 [GRCh38]
Chr10:89623438..89623439 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-862_-847del16 deletion Hereditary cancer-predisposing syndrome [RCV002371177] Chr10:87863602..87863617 [GRCh38]
Chr10:89623359..89623374 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-936G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405622] Chr10:87863423 [GRCh38]
Chr10:89623180 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-977G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412951] Chr10:87863464 [GRCh38]
Chr10:89623221 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-977G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413021] Chr10:87863464 [GRCh38]
Chr10:89623221 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1022G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385311] Chr10:87863509 [GRCh38]
Chr10:89623266 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1021G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385336] Chr10:87863508 [GRCh38]
Chr10:89623265 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-943_-914del deletion Hereditary cancer-predisposing syndrome [RCV002407998] Chr10:87863401..87863430 [GRCh38]
Chr10:89623158..89623187 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-998G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387292] Chr10:87863485 [GRCh38]
Chr10:89623242 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-933G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400903] Chr10:87863420 [GRCh38]
Chr10:89623177 [GRCh37]
Chr10:10q23.31		 benign
NM_000314.8(PTEN):c.-798A>G single nucleotide variant not provided [RCV000586431] Chr10:87863672 [GRCh38]
Chr10:89623429 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1011A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387040] Chr10:87863498 [GRCh38]
Chr10:89623255 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1030G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374243] Chr10:87863517 [GRCh38]
Chr10:89623274 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-989G>C single nucleotide variant not provided [RCV000115581] Chr10:87863476 [GRCh38]
Chr10:89623233 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-840C>T single nucleotide variant not provided [RCV000578812] Chr10:87863630 [GRCh38]
Chr10:89623387 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-828G>A single nucleotide variant not provided [RCV000578882] Chr10:87863642 [GRCh38]
Chr10:89623399 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-922G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404189] Chr10:87863409 [GRCh38]
Chr10:89623166 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1026C>G single nucleotide variant not provided [RCV000115578] Chr10:87863513 [GRCh38]
Chr10:89623270 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-784G>T single nucleotide variant not provided [RCV000587779] Chr10:87863686 [GRCh38]
Chr10:89623443 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-844_-842delinsCTT indel not provided [RCV000598848] Chr10:87863626..87863628 [GRCh38]
Chr10:89623383..89623385 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-860delG deletion Hereditary cancer-predisposing syndrome [RCV002449596] Chr10:87863607 [GRCh38]
Chr10:89623364 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.4(PTEN):c.-1032-222_-366del889 deletion Hereditary cancer-predisposing syndrome [RCV002396540] Chr10:87863215..87864103 [GRCh38]
Chr10:89622972..89623860 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-934G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450087] Chr10:87863535 [GRCh38]
Chr10:89623292 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-934G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398514] Chr10:87863421 [GRCh38]
Chr10:89623178 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-789G>A single nucleotide variant not provided [RCV000579041] Chr10:87863681 [GRCh38]
Chr10:89623438 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-806G>A single nucleotide variant not provided [RCV000579134] Chr10:87863664 [GRCh38]
Chr10:89623421 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1030G>C single nucleotide variant not provided [RCV001801052] Chr10:87863517 [GRCh38]
Chr10:89623274 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1022G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374361] Chr10:87863509 [GRCh38]
Chr10:89623266 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-812A>G single nucleotide variant not provided [RCV000578633] Chr10:87863658 [GRCh38]
Chr10:89623415 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-785C>T single nucleotide variant not provided [RCV000598735] Chr10:87863685 [GRCh38]
Chr10:89623442 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-951G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381118] Chr10:87863438 [GRCh38]
Chr10:89623195 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-933G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371671] Chr10:87863536 [GRCh38]
Chr10:89623293 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-838C>G single nucleotide variant not provided [RCV000599438] Chr10:87863632 [GRCh38]
Chr10:89623389 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-901_-883dup duplication not provided [RCV000599573] Chr10:87863563..87863564 [GRCh38]
Chr10:89623320..89623321 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1018C>T single nucleotide variant not specified [RCV001526998] Chr10:87863505 [GRCh38]
Chr10:89623262 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-902G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376457] Chr10:87863567 [GRCh38]
Chr10:89623324 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1013G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376608] Chr10:87863500 [GRCh38]
Chr10:89623257 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1002G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376808] Chr10:87863489 [GRCh38]
Chr10:89623246 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-905delG deletion Hereditary cancer-predisposing syndrome [RCV002378545] Chr10:87863563 [GRCh38]
Chr10:89623320 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.87863570C>G single nucleotide variant not provided [RCV001551068] Chr10:87863570 [GRCh38]
Chr10:89623327 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-875C>T single nucleotide variant not provided [RCV003442232] Chr10:87863594 [GRCh38]
Chr10:89623351 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-826T>C single nucleotide variant not provided [RCV001556707] Chr10:87863644 [GRCh38]
Chr10:89623401 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-971A>C single nucleotide variant not specified [RCV003388551] Chr10:87863458 [GRCh38]
Chr10:89623215 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-859delA deletion not provided [RCV002488672] Chr10:87863610 [GRCh38]
Chr10:89623367 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-816A>G single nucleotide variant not provided [RCV001564985] Chr10:87863654 [GRCh38]
Chr10:89623411 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.87863572C>T single nucleotide variant not provided [RCV001352683] Chr10:87863572 [GRCh38]
Chr10:89623329 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.87863609G>A single nucleotide variant not provided [RCV001547876] Chr10:87863609 [GRCh38]
Chr10:89623366 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-881A>C single nucleotide variant not specified [RCV002510294] Chr10:87863588 [GRCh38]
Chr10:89623345 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-797G>A single nucleotide variant not specified [RCV003388510] Chr10:87863673 [GRCh38]
Chr10:89623430 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-931_-914dup duplication PTEN-related condition [RCV003983355] Chr10:87863536..87863537 [GRCh38]
Chr10:89623293..89623294 [GRCh37]
Chr10:10q23.31		 likely benign
GRCh38/hg38 10q23.31(chr10:87830830-88617225)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626428] Chr10:87830830..88617225 [GRCh38]
Chr10:89590587..90376982 [GRCh37]
Chr10:10q23.31		 drug response
NM_001126049.2(KLLN):c.-954G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017056]|not specified [RCV000479545] Chr10:87863441 [GRCh38]
Chr10:89623198 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-918G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018986]|not specified [RCV000485388] Chr10:87863551 [GRCh38]
Chr10:89623308 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-796C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026998]|not provided [RCV001800815]|not specified [RCV001192784] Chr10:87863674 [GRCh38]
Chr10:89623431 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-868G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130678]|Macrocephaly-autism syndrome [RCV000763682]|PTEN hamartoma tumor syndrome [RCV000988408]|not provided [RCV000588328]|not specified [RCV001526858] Chr10:87863601 [GRCh38]
Chr10:89623358 [GRCh37]
Chr10:10q23.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_001126049.2(KLLN):c.-1039G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000115577]|Macrocephaly-autism syndrome [RCV000763681]|PTEN hamartoma tumor syndrome [RCV002286568]|not provided [RCV000258977]|not specified [RCV001175018] Chr10:87863526 [GRCh38]
Chr10:89623283 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-906G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018779]|not provided [RCV002466517]|not specified [RCV000483863] Chr10:87863563 [GRCh38]
Chr10:89623320 [GRCh37]
Chr10:10q23.31		 uncertain significance|no classifications from unflagged records
NM_000314.8(PTEN):c.-910T>G single nucleotide variant not provided [RCV000578852]|not specified [RCV001174695] Chr10:87863560 [GRCh38]
Chr10:89623317 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-950G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009735]|not specified [RCV000478461] Chr10:87863437 [GRCh38]
Chr10:89623194 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.87863621C>G single nucleotide variant not provided [RCV001757288] Chr10:87863621 [GRCh38]
Chr10:89623378 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.87863609G>C single nucleotide variant not provided [RCV001757726] Chr10:87863609 [GRCh38]
Chr10:89623366 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1036G>A single nucleotide variant not provided [RCV000213464]|not specified [RCV001358713] Chr10:87863523 [GRCh38]
Chr10:89623280 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.87863624A>G single nucleotide variant not provided [RCV001824487] Chr10:87863624 [GRCh38]
Chr10:89623381 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1002GGAGGCG[1] microsatellite not provided [RCV001768259] Chr10:87863476..87863482 [GRCh38]
Chr10:89623233..89623239 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-859A>G single nucleotide variant Macrocephaly-autism syndrome [RCV002506389]|not provided [RCV000579213]|not specified [RCV001251385] Chr10:87863610 [GRCh38]
Chr10:89623367 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1017C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019607]|not specified [RCV000485528] Chr10:87863504 [GRCh38]
Chr10:89623261 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1042G>T single nucleotide variant not provided [RCV003323199] Chr10:87863529 [GRCh38]
Chr10:89623286 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1030G>T single nucleotide variant not specified [RCV000486258] Chr10:87863517 [GRCh38]
Chr10:89623274 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-957G>C single nucleotide variant not provided [RCV001670194] Chr10:87863444 [GRCh38]
Chr10:89623201 [GRCh37]
Chr10:10q23.31		 benign
NC_000010.11:g.87863597G>C single nucleotide variant not provided [RCV001777049] Chr10:87863597 [GRCh38]
Chr10:89623354 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-921G>A single nucleotide variant not specified [RCV000478995] Chr10:87863408 [GRCh38]
Chr10:89623165 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1040C>A single nucleotide variant not specified [RCV003330479] Chr10:87863527 [GRCh38]
Chr10:89623284 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-903G>C single nucleotide variant not provided [RCV001284222]|not specified [RCV000485599] Chr10:87863566 [GRCh38]
Chr10:89623323 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-877T>C single nucleotide variant not provided [RCV003313476] Chr10:87863592 [GRCh38]
Chr10:89623349 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-953A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129515] Chr10:87863440 [GRCh38]
Chr10:89623197 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-892delT deletion not provided [RCV000598709]|not specified [RCV003117370] Chr10:87863577 [GRCh38]
Chr10:89623334 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-926G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129475]|not provided [RCV000579143] Chr10:87863413 [GRCh38]
Chr10:89623170 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-903G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130927] Chr10:87863390 [GRCh38]
Chr10:89623147 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.87863604G>T single nucleotide variant not provided [RCV002210968] Chr10:87863604 [GRCh38]
Chr10:89623361 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-949CAGGG[2] microsatellite Hereditary cancer-predisposing syndrome [RCV000130184]|not provided [RCV000412675] Chr10:87863422..87863426 [GRCh38]
Chr10:89623179..89623183 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-912G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130223]|not provided [RCV000578731] Chr10:87863399 [GRCh38]
Chr10:89623156 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1026C>T single nucleotide variant not provided [RCV003237109] Chr10:87863513 [GRCh38]
Chr10:89623270 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-899C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130868] Chr10:87863386 [GRCh38]
Chr10:89623143 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-796C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416894] Chr10:87863674 [GRCh38]
Chr10:89623431 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1046C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019223]|PTEN-related condition [RCV003952934]|not provided [RCV000588590] Chr10:87863533 [GRCh38]
Chr10:89623290 [GRCh37]
Chr10:10q23.31		 likely benign|uncertain significance
NM_001126049.2(KLLN):c.-922G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000115554]|not specified [RCV000247050] Chr10:87863409 [GRCh38]
Chr10:89623166 [GRCh37]
Chr10:10q23.31		 benign|likely benign|uncertain significance|conflicting data from submitters
NM_001126049.2(KLLN):c.-949CAGGG[5] microsatellite not specified [RCV000599102] Chr10:87863421..87863422 [GRCh38]
Chr10:89623178..89623179 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-904_-903delCGinsGA indel not provided [RCV000599108] Chr10:87863565..87863566 [GRCh38]
Chr10:89623322..89623323 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-796C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026996] Chr10:87863674 [GRCh38]
Chr10:89623431 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-821C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027283]|not specified [RCV003226419] Chr10:87863649 [GRCh38]
Chr10:89623406 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-844T>G single nucleotide variant not specified [RCV003317727] Chr10:87863626 [GRCh38]
Chr10:89623383 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-955G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162383]|PTEN hamartoma tumor syndrome [RCV000380108]|not specified [RCV000241658] Chr10:87863442 [GRCh38]
Chr10:89623199 [GRCh37]
Chr10:10q23.31		 benign|likely benign
NM_001126049.2(KLLN):c.-898G>A single nucleotide variant Cowden syndrome 1 [RCV000662713]|Cowden syndrome 4 [RCV003654199]|Hereditary cancer-predisposing syndrome [RCV000115555]|Macrocephaly-autism syndrome [RCV002498494]|PTEN hamartoma tumor syndrome [RCV000229583]|not provided [RCV000586614]|not specified [RCV000201312] Chr10:87863385 [GRCh38]
Chr10:89623142 [GRCh37]
Chr10:10q23.31		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000314.6(PTEN):c.-869_-863delCGGCGCT deletion not provided [RCV000598583] Chr10:87863595..87863601 [GRCh38]
Chr10:89623352..89623358 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-821C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027281]|not specified [RCV000485410] Chr10:87863649 [GRCh38]
Chr10:89623406 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1003G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166885] Chr10:87863490 [GRCh38]
Chr10:89623247 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-980G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165302] Chr10:87863467 [GRCh38]
Chr10:89623224 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-924G>C single nucleotide variant not provided [RCV000586727] Chr10:87863411 [GRCh38]
Chr10:89623168 [GRCh37]
Chr10:10q23.31		 benign
NM_000314.6(PTEN):c.-935G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257174] Chr10:87863534 [GRCh38]
Chr10:89623291 [GRCh37]
Chr10:10q23.31		 likely benign
NM_000314.8(PTEN):c.-837C>T single nucleotide variant PTEN hamartoma tumor syndrome [RCV001078170]|not provided [RCV000589842]|not specified [RCV001192785] Chr10:87863633 [GRCh38]
Chr10:89623390 [GRCh37]
Chr10:10q23.31		 likely benign|uncertain significance
NM_000314.6(PTEN):c.-921G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019029]|not provided [RCV001558619]|not specified [RCV000521985] Chr10:87863548 [GRCh38]
Chr10:89623305 [GRCh37]
Chr10:10q23.31		 uncertain significance|no classifications from unflagged records
NM_000314.8(PTEN):c.-791G>A single nucleotide variant not provided [RCV000213565] Chr10:87863679 [GRCh38]
Chr10:89623436 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-822G>T single nucleotide variant Macrocephaly-autism syndrome [RCV000763684]|not provided [RCV000215190] Chr10:87863648 [GRCh38]
Chr10:89623405 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-797G>C single nucleotide variant not specified [RCV003324346] Chr10:87863673 [GRCh38]
Chr10:89623430 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1044C>T single nucleotide variant not provided [RCV002292150] Chr10:87863531 [GRCh38]
Chr10:89623288 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-845A>C single nucleotide variant PTEN hamartoma tumor syndrome [RCV000988409]|not provided [RCV000169800] Chr10:87863624 [GRCh38]
Chr10:89623381 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-985dup duplication not provided [RCV000215111] Chr10:87863471..87863472 [GRCh38]
Chr10:89623228..89623229 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-985G>C single nucleotide variant not provided [RCV000218999] Chr10:87863472 [GRCh38]
Chr10:89623229 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-859A>C single nucleotide variant not provided [RCV000219185] Chr10:87863610 [GRCh38]
Chr10:89623367 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.(?_86875868)_(87894129_?)del deletion PTEN hamartoma tumor syndrome [RCV000817289] Chr10:86875868..87894129 [GRCh38]
Chr10:88635625..89653886 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic
NM_001126049.2(KLLN):c.-993_-992= variation not provided [RCV000986008] Chr10:87863479..87863480 [GRCh38]
Chr10:89623236..89623237 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-895_-894delTT deletion Hereditary cancer-predisposing syndrome [RCV001018552] Chr10:87863573..87863574 [GRCh38]
Chr10:89623330..89623331 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-781G>C single nucleotide variant not provided [RCV003135157] Chr10:87863689 [GRCh38]
Chr10:89623446 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-996G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003482139]|not provided [RCV000221319] Chr10:87863483 [GRCh38]
Chr10:89623240 [GRCh37]
Chr10:10q23.31		 likely benign|uncertain significance
NM_001126049.2(KLLN):c.-972G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325777] Chr10:87863459 [GRCh38]
Chr10:89623216 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-838C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164420]|not provided [RCV000986005]|not specified [RCV000581555] Chr10:87863632 [GRCh38]
Chr10:89623389 [GRCh37]
Chr10:10q23.31		 likely benign|uncertain significance
NC_000010.11:g.(?_86838866)_(87965482_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000801362] Chr10:86838866..87965482 [GRCh38]
Chr10:88598623..89725239 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic
NC_000010.10:g.(?_89622918)_(89624325_?)dup duplication PTEN hamartoma tumor syndrome [RCV000708136] Chr10:87863161..87864568 [GRCh38]
Chr10:89622918..89624325 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-914G>C single nucleotide variant not provided [RCV000578567] Chr10:87863555 [GRCh38]
Chr10:89623312 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-969C>A single nucleotide variant not provided [RCV000169868] Chr10:87863456 [GRCh38]
Chr10:89623213 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-846C>T single nucleotide variant not provided [RCV000169799] Chr10:87863623 [GRCh38]
Chr10:89623380 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-801_-787del deletion Hereditary cancer-predisposing syndrome [RCV002419216] Chr10:87863666..87863680 [GRCh38]
Chr10:89623423..89623437 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-935G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398302] Chr10:87863422 [GRCh38]
Chr10:89623179 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-907T>G single nucleotide variant not provided [RCV000115575] Chr10:87863562 [GRCh38]
Chr10:89623319 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-973_-867del107 deletion Hereditary cancer-predisposing syndrome [RCV002376751] Chr10:87863491..87863597 [GRCh38]
Chr10:89623248..89623354 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-961G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416632] Chr10:87863448 [GRCh38]
Chr10:89623205 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.8(PTEN):c.-833C>T single nucleotide variant not provided [RCV000579048] Chr10:87863637 [GRCh38]
Chr10:89623394 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-911G>A single nucleotide variant not provided [RCV002469923] Chr10:87863558 [GRCh38]
Chr10:89623315 [GRCh37]
Chr10:10q23.31		 uncertain significance
NC_000010.11:g.87863548G>T single nucleotide variant not provided [RCV001284223] Chr10:87863548 [GRCh38]
Chr10:89623305 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_000314.6(PTEN):c.-917G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378897] Chr10:87863552 [GRCh38]
Chr10:89623309 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-941G>C single nucleotide variant not provided [RCV000221871] Chr10:87863428 [GRCh38]
Chr10:89623185 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-1025C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385234] Chr10:87863512 [GRCh38]
Chr10:89623269 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001126049.2(KLLN):c.-956G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385417] Chr10:87863443 [GRCh38]
Chr10:89623200 [GRCh37]
Chr10:10q23.31		 uncertain significance
GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3 copy number gain See cases [RCV000053559] Chr10:84434981..89150802 [GRCh38]
Chr10:86194737..90910559 [GRCh37]
Chr10:86184717..90900539 [NCBI36]
Chr10:10q23.1-23.31		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130004273 COSMIC
GTEx LOC130004273 GTEx
Human Proteome Map LOC130004273 Human Proteome Map
NCBI Gene LOC130004273 ENTREZGENE