| NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter) |
single nucleotide variant |
Malignant tumor of prostate [RCV000991158]|Prostate cancer, hereditary, 1 [RCV000013878]|RNASEL-related disorder [RCV003914838]|not provided [RCV000954847] |
Chr1:182586014 [GRCh38]
Chr1:182555149 [GRCh37]
Chr1:1q25.3 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_021133.4(RNASEL):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV000013879] |
Chr1:182586804 [GRCh38]
Chr1:182555939 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln) |
single nucleotide variant |
Hereditary cancer [RCV003492293]|Prostate cancer, hereditary, 1 [RCV002279713]|RECLASSIFIED - CDH1 POLYMORPHISM [RCV000013880] |
Chr1:182585422 [GRCh38]
Chr1:182554557 [GRCh37]
Chr1:1q25.3 |
risk factor|likely benign|uncertain significance |
| GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 |
copy number loss |
See cases [RCV000051221] |
Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1 |
pathogenic |
| GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1 |
copy number loss |
See cases [RCV000053949] |
Chr1:182137726..186931125 [GRCh38]
Chr1:182106861..186900257 [GRCh37]
Chr1:180373484..185166880 [NCBI36]
Chr1:1q25.3-31.1 |
pathogenic |
| GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 |
copy number loss |
See cases [RCV000053948] |
Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1 |
pathogenic |
| NM_021133.4(RNASEL):c.1767G>A (p.Trp589Ter) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV001292911] |
Chr1:182582058 [GRCh38]
Chr1:182551193 [GRCh37]
Chr1:1q25.3 |
pathogenic |
| GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 |
copy number loss |
See cases [RCV000134144] |
Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3 |
pathogenic |
| GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 |
copy number gain |
See cases [RCV000134876] |
Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1 |
pathogenic |
| GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 |
copy number loss |
See cases [RCV000142369] |
Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2 |
pathogenic |
| GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 |
copy number loss |
See cases [RCV000143688] |
Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1 |
pathogenic |
| GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1 |
copy number loss |
See cases [RCV000240242] |
Chr1:181572003..191524283 [GRCh37]
Chr1:1q25.3-31.2 |
pathogenic |
| GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 |
copy number loss |
See cases [RCV000447098] |
Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3 |
pathogenic |
| GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 |
copy number loss |
See cases [RCV000445748] |
Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1 |
copy number loss |
See cases [RCV000448646] |
Chr1:179564752..183850820 [GRCh37]
Chr1:1q25.2-25.3 |
pathogenic |
| GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 |
copy number loss |
See cases [RCV000448809] |
Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| GRCh37/hg19 1q25.3(chr1:180830413-183981164)x3 |
copy number gain |
See cases [RCV000448160] |
Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 |
copy number loss |
See cases [RCV000448686] |
Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3 |
pathogenic |
| GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 |
copy number loss |
See cases [RCV000512128] |
Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_021133.4(RNASEL):c.1164A>C (p.Glu388Asp) |
single nucleotide variant |
not specified [RCV004324281] |
Chr1:182585643 [GRCh38]
Chr1:182554778 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1810G>A (p.Asp604Asn) |
single nucleotide variant |
not specified [RCV004298098] |
Chr1:182581320 [GRCh38]
Chr1:182550455 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.2188G>A (p.Ala730Thr) |
single nucleotide variant |
not specified [RCV004298715] |
Chr1:182575430 [GRCh38]
Chr1:182544565 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 |
copy number gain |
See cases [RCV000512520] |
Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3 |
likely pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 |
copy number loss |
not provided [RCV000736735] |
Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1 |
pathogenic |
| GRCh37/hg19 1q25.3(chr1:182538615-182569626)x1 |
copy number loss |
not provided [RCV000749254] |
Chr1:182538615..182569626 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_021133.4(RNASEL):c.1242C>T (p.Asn414=) |
single nucleotide variant |
not provided [RCV000893635] |
Chr1:182585565 [GRCh38]
Chr1:182554700 [GRCh37]
Chr1:1q25.3 |
benign |
| GRCh37/hg19 1q25.3(chr1:181863430-183148056)x1 |
copy number loss |
not provided [RCV000762696] |
Chr1:181863430..183148056 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1591G>A (p.Val531Met) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV003315481] |
Chr1:182582234 [GRCh38]
Chr1:182551369 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.289A>C (p.Ile97Leu) |
single nucleotide variant |
not provided [RCV000994205] |
Chr1:182586518 [GRCh38]
Chr1:182555653 [GRCh37]
Chr1:1q25.3 |
benign|likely benign |
| NC_000001.10:g.172652343_183538289del10885947 |
deletion |
1q24q25 microdeletion syndrome [RCV000785662] |
Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3 |
pathogenic |
| NM_021133.4(RNASEL):c.1567G>A (p.Asp523Asn) |
single nucleotide variant |
not provided [RCV000994204] |
Chr1:182582258 [GRCh38]
Chr1:182551393 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 |
copy number gain |
not provided [RCV000845852] |
Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44 |
pathogenic |
| GRCh37/hg19 1q25.3(chr1:180586428-183178629)x3 |
copy number gain |
not provided [RCV001005158] |
Chr1:180586428..183178629 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1179G>A (p.Thr393=) |
single nucleotide variant |
RNASEL-related disorder [RCV003926013]|not provided [RCV000954846] |
Chr1:182585628 [GRCh38]
Chr1:182554763 [GRCh37]
Chr1:1q25.3 |
benign|conflicting interpretations of pathogenicity |
| NM_021133.4(RNASEL):c.175G>A (p.Gly59Ser) |
single nucleotide variant |
not provided [RCV000954848] |
Chr1:182586632 [GRCh38]
Chr1:182555767 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_021133.4(RNASEL):c.339T>C (p.Ser113=) |
single nucleotide variant |
not provided [RCV000955816] |
Chr1:182586468 [GRCh38]
Chr1:182555603 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_021133.4(RNASEL):c.354C>T (p.Val118=) |
single nucleotide variant |
not provided [RCV000889355] |
Chr1:182586453 [GRCh38]
Chr1:182555588 [GRCh37]
Chr1:1q25.3 |
benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 |
copy number loss |
not provided [RCV001005157] |
Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 |
copy number gain |
not provided [RCV001258487] |
Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3 |
pathogenic |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_021133.4(RNASEL):c.418G>T (p.Ala140Ser) |
single nucleotide variant |
not provided [RCV001356347] |
Chr1:182586389 [GRCh38]
Chr1:182555524 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.221T>C (p.Ile74Thr) |
single nucleotide variant |
not specified [RCV002248157] |
Chr1:182586586 [GRCh38]
Chr1:182555721 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) |
copy number loss |
not specified [RCV002053736] |
Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3 |
pathogenic |
| GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) |
copy number loss |
not specified [RCV002053769] |
Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) |
copy number loss |
not specified [RCV002053780] |
Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1 |
pathogenic |
| GRCh37/hg19 1q25.3(chr1:180830413-183981164) |
copy number gain |
not specified [RCV002053802] |
Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1 |
copy number loss |
not provided [RCV001836604] |
Chr1:178522021..190322133 [GRCh37]
Chr1:1q25.2-31.1 |
pathogenic |
| NC_000001.10:g.(?_179520308)_(183559464_?)dup |
duplication |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002014062] |
Chr1:179520308..183559464 [GRCh37]
Chr1:1q25.2-25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1208G>C (p.Arg403Pro) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279785] |
Chr1:182585599 [GRCh38]
Chr1:182554734 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1418A>C (p.Gln473Pro) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279793] |
Chr1:182585389 [GRCh38]
Chr1:182554524 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1250del (p.Leu417fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279802] |
Chr1:182585557 [GRCh38]
Chr1:182554692 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1252_1253insA (p.Val418fs) |
insertion |
Prostate cancer, hereditary, 1 [RCV002279803] |
Chr1:182585554..182585555 [GRCh38]
Chr1:182554689..182554690 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1285dup (p.His429fs) |
duplication |
Prostate cancer, hereditary, 1 [RCV002279813] |
Chr1:182585521..182585522 [GRCh38]
Chr1:182554656..182554657 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1399_1400insA (p.Ser467fs) |
insertion |
Prostate cancer, hereditary, 1 [RCV002279832] |
Chr1:182585407..182585408 [GRCh38]
Chr1:182554542..182554543 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1263T>C (p.Tyr421=) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279846] |
Chr1:182585544 [GRCh38]
Chr1:182554679 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1368G>T (p.Glu456Asp) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279786] |
Chr1:182585439 [GRCh38]
Chr1:182554574 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1393C>A (p.Leu465Met) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279788] |
Chr1:182585414 [GRCh38]
Chr1:182554549 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1405T>A (p.Phe469Ile) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279789] |
Chr1:182585402 [GRCh38]
Chr1:182554537 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1222del (p.Leu408fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279798] |
Chr1:182585585 [GRCh38]
Chr1:182554720 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1248del (p.Leu417fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279800] |
Chr1:182585559 [GRCh38]
Chr1:182554694 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1268del (p.Ser423fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279810] |
Chr1:182585539 [GRCh38]
Chr1:182554674 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1273dup (p.Ser425fs) |
duplication |
Prostate cancer, hereditary, 1 [RCV002279811] |
Chr1:182585533..182585534 [GRCh38]
Chr1:182554668..182554669 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1293dup (p.Val432fs) |
duplication |
Prostate cancer, hereditary, 1 [RCV002279816] |
Chr1:182585513..182585514 [GRCh38]
Chr1:182554648..182554649 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1300del (p.Val434fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279818] |
Chr1:182585507 [GRCh38]
Chr1:182554642 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1400dup (p.Ile468fs) |
duplication |
Prostate cancer, hereditary, 1 [RCV002279833] |
Chr1:182585406..182585407 [GRCh38]
Chr1:182554541..182554542 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1289T>A (p.Leu430Ter) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279841] |
Chr1:182585518 [GRCh38]
Chr1:182554653 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1270G>C (p.Glu424Gln) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279849] |
Chr1:182585537 [GRCh38]
Chr1:182554672 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1289T>C (p.Leu430Ser) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279850] |
Chr1:182585518 [GRCh38]
Chr1:182554653 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1407T>A (p.Phe469Leu) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279790] |
Chr1:182585400 [GRCh38]
Chr1:182554535 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1412C>T (p.Ala471Val) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279792] |
Chr1:182585395 [GRCh38]
Chr1:182554530 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1422A>T (p.Glu474Asp) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279794] |
Chr1:182585385 [GRCh38]
Chr1:182554520 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1234del (p.Arg412fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279799] |
Chr1:182585573 [GRCh38]
Chr1:182554708 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1250dup (p.Leu417fs) |
duplication |
Prostate cancer, hereditary, 1 [RCV002279801] |
Chr1:182585556..182585557 [GRCh38]
Chr1:182554691..182554692 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1311dup (p.Glu438Ter) |
duplication |
Prostate cancer, hereditary, 1 [RCV002279819] |
Chr1:182585495..182585496 [GRCh38]
Chr1:182554630..182554631 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1364dup (p.Asn455fs) |
duplication |
Prostate cancer, hereditary, 1 [RCV002279826] |
Chr1:182585442..182585443 [GRCh38]
Chr1:182554577..182554578 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1385del (p.Arg462fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279830] |
Chr1:182585422 [GRCh38]
Chr1:182554557 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1407del (p.Phe469fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279835] |
Chr1:182585400 [GRCh38]
Chr1:182554535 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1257A>T (p.Thr419=) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279844] |
Chr1:182585550 [GRCh38]
Chr1:182554685 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1429T>A (p.Leu477Met) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279796] |
Chr1:182585378 [GRCh38]
Chr1:182554513 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1253dup (p.Thr419fs) |
duplication |
Prostate cancer, hereditary, 1 [RCV002279804] |
Chr1:182585553..182585554 [GRCh38]
Chr1:182554688..182554689 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1266dup (p.Ser423fs) |
duplication |
Prostate cancer, hereditary, 1 [RCV002279809] |
Chr1:182585540..182585541 [GRCh38]
Chr1:182554675..182554676 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1279del (p.Arg427fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279812] |
Chr1:182585528 [GRCh38]
Chr1:182554663 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1403del (p.Ile468fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279834] |
Chr1:182585404 [GRCh38]
Chr1:182554539 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1222C>T (p.Leu408=) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279842] |
Chr1:182585585 [GRCh38]
Chr1:182554720 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1257del (p.Phe420fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279807] |
Chr1:182585550 [GRCh38]
Chr1:182554685 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1311del (p.Cys437fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279820] |
Chr1:182585496 [GRCh38]
Chr1:182554631 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1343dup (p.His448fs) |
duplication |
Prostate cancer, hereditary, 1 [RCV002279822] |
Chr1:182585463..182585464 [GRCh38]
Chr1:182554598..182554599 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1358del (p.Val453fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279824] |
Chr1:182585449 [GRCh38]
Chr1:182554584 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1369del (p.Glu457fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279827] |
Chr1:182585438 [GRCh38]
Chr1:182554573 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1256C>A (p.Thr419Lys) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279828] |
Chr1:182585551 [GRCh38]
Chr1:182554686 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1380del (p.Phe460fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279829] |
Chr1:182585427 [GRCh38]
Chr1:182554562 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1395del (p.Ser466fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279831] |
Chr1:182585412 [GRCh38]
Chr1:182554547 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1264G>T (p.Gly422Trp) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279839] |
Chr1:182585543 [GRCh38]
Chr1:182554678 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1430del (p.Leu477fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279840] |
Chr1:182585377 [GRCh38]
Chr1:182554512 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1260C>T (p.Phe420=) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279845] |
Chr1:182585547 [GRCh38]
Chr1:182554682 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1409A>C (p.Lys470Thr) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279791] |
Chr1:182585398 [GRCh38]
Chr1:182554533 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1256del (p.Thr419fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279805] |
Chr1:182585551 [GRCh38]
Chr1:182554686 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1259dup (p.Tyr421fs) |
duplication |
Prostate cancer, hereditary, 1 [RCV002279808] |
Chr1:182585547..182585548 [GRCh38]
Chr1:182554682..182554683 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1286del (p.His429fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279814] |
Chr1:182585521 [GRCh38]
Chr1:182554656 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1287_1288insA (p.Leu430fs) |
insertion |
Prostate cancer, hereditary, 1 [RCV002279815] |
Chr1:182585519..182585520 [GRCh38]
Chr1:182554654..182554655 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1413del (p.Val472fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279837] |
Chr1:182585394 [GRCh38]
Chr1:182554529 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1305C>T (p.Thr435=) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279847] |
Chr1:182585502 [GRCh38]
Chr1:182554637 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1388A>G (p.Asn463Ser) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279787] |
Chr1:182585419 [GRCh38]
Chr1:182554554 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1230C>A (p.Ser410Arg) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279795] |
Chr1:182585577 [GRCh38]
Chr1:182554712 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1219del (p.Cys407fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279797] |
Chr1:182585588 [GRCh38]
Chr1:182554723 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1237G>A (p.Glu413Lys) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279806] |
Chr1:182585570 [GRCh38]
Chr1:182554705 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1243A>G (p.Ser415Gly) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279817] |
Chr1:182585564 [GRCh38]
Chr1:182554699 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1322del (p.Leu441fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279821] |
Chr1:182585485 [GRCh38]
Chr1:182554620 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1351del (p.Glu451fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279823] |
Chr1:182585456 [GRCh38]
Chr1:182554591 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1360del (p.Glu454fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279825] |
Chr1:182585447 [GRCh38]
Chr1:182554582 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1411del (p.Ala471fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279836] |
Chr1:182585396 [GRCh38]
Chr1:182554531 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1414_1415del (p.Val472fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002279838] |
Chr1:182585392..182585393 [GRCh38]
Chr1:182554527..182554528 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1239G>A (p.Glu413=) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279843] |
Chr1:182585568 [GRCh38]
Chr1:182554703 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1416T>C (p.Val472=) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279848] |
Chr1:182585391 [GRCh38]
Chr1:182554526 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1303A>C (p.Thr435Pro) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002279851] |
Chr1:182585504 [GRCh38]
Chr1:182554639 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.3(chr1:182443031-182609230)x1 |
copy number loss |
not provided [RCV002472741] |
Chr1:182443031..182609230 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1033dup (p.Ala345fs) |
duplication |
Prostate cancer, hereditary, 1 [RCV002468872] |
Chr1:182585773..182585774 [GRCh38]
Chr1:182554908..182554909 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 |
copy number loss |
not provided [RCV002473949] |
Chr1:179727182..192260142 [GRCh37]
Chr1:1q25.2-31.2 |
pathogenic |
| NM_021133.4(RNASEL):c.1115C>A (p.Ala372Asp) |
single nucleotide variant |
Ovarian cancer [RCV003154749] |
Chr1:182585692 [GRCh38]
Chr1:182554827 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_021133.4(RNASEL):c.1251G>C (p.Leu417Phe) |
single nucleotide variant |
Ovarian cancer [RCV003154698] |
Chr1:182585556 [GRCh38]
Chr1:182554691 [GRCh37]
Chr1:1q25.3 |
benign |
| GRCh37/hg19 1q25.3(chr1:182442865-182609349)x1 |
copy number loss |
not provided [RCV002475783] |
Chr1:182442865..182609349 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.254C>T (p.Pro85Leu) |
single nucleotide variant |
not specified [RCV004222136] |
Chr1:182586553 [GRCh38]
Chr1:182555688 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 |
copy number gain |
not provided [RCV002475637] |
Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3 |
pathogenic |
| NM_021133.4(RNASEL):c.605G>A (p.Gly202Asp) |
single nucleotide variant |
not specified [RCV004225465] |
Chr1:182586202 [GRCh38]
Chr1:182555337 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1477A>G (p.Ile493Val) |
single nucleotide variant |
not specified [RCV004173108] |
Chr1:182585330 [GRCh38]
Chr1:182554465 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1376A>T (p.Glu459Val) |
single nucleotide variant |
not specified [RCV004151971] |
Chr1:182585431 [GRCh38]
Chr1:182554566 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1823G>A (p.Arg608Gln) |
single nucleotide variant |
not specified [RCV004085847] |
Chr1:182581307 [GRCh38]
Chr1:182550442 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.562C>T (p.Leu188Phe) |
single nucleotide variant |
not specified [RCV004089389] |
Chr1:182586245 [GRCh38]
Chr1:182555380 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.2152C>A (p.Gln718Lys) |
single nucleotide variant |
Ovarian cancer [RCV003154702] |
Chr1:182575466 [GRCh38]
Chr1:182544601 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_021133.4(RNASEL):c.918G>A (p.Met306Ile) |
single nucleotide variant |
Ovarian cancer [RCV003154655] |
Chr1:182585889 [GRCh38]
Chr1:182555024 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_021133.4(RNASEL):c.1469A>G (p.Asn490Ser) |
single nucleotide variant |
Ovarian cancer [RCV003154786] |
Chr1:182585338 [GRCh38]
Chr1:182554473 [GRCh37]
Chr1:1q25.3 |
likely pathogenic |
| NM_021133.4(RNASEL):c.145G>A (p.Ala49Thr) |
single nucleotide variant |
not specified [RCV004259742] |
Chr1:182586662 [GRCh38]
Chr1:182555797 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.2194G>A (p.Gly732Arg) |
single nucleotide variant |
not specified [RCV004249270] |
Chr1:182575424 [GRCh38]
Chr1:182544559 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.976A>G (p.Lys326Glu) |
single nucleotide variant |
not specified [RCV004248569] |
Chr1:182585831 [GRCh38]
Chr1:182554966 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.635G>A (p.Ser212Asn) |
single nucleotide variant |
not specified [RCV004280955] |
Chr1:182586172 [GRCh38]
Chr1:182555307 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_021133.4(RNASEL):c.526G>A (p.Ala176Thr) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV003135777] |
Chr1:182586281 [GRCh38]
Chr1:182555416 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1481-1G>T |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV003135778] |
Chr1:182584167 [GRCh38]
Chr1:182553302 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1696C>T (p.Leu566Phe) |
single nucleotide variant |
not specified [RCV004361564] |
Chr1:182582129 [GRCh38]
Chr1:182551264 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.2039+1del |
deletion |
Prostate cancer, hereditary, 1 [RCV003881675] |
Chr1:182576255 [GRCh38]
Chr1:182545390 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 |
copy number gain |
not specified [RCV003986506] |
Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3 |
pathogenic |
| GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 |
copy number loss |
not specified [RCV003987250] |
Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1 |
pathogenic |
| NM_021133.4(RNASEL):c.880A>G (p.Lys294Glu) |
single nucleotide variant |
RNASEL-related disorder [RCV003954511] |
Chr1:182585927 [GRCh38]
Chr1:182555062 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_021133.4(RNASEL):c.666G>A (p.Thr222=) |
single nucleotide variant |
RNASEL-related disorder [RCV003912035] |
Chr1:182586141 [GRCh38]
Chr1:182555276 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_021133.4(RNASEL):c.2172G>A (p.Lys724=) |
single nucleotide variant |
RNASEL-related disorder [RCV003976601] |
Chr1:182575446 [GRCh38]
Chr1:182544581 [GRCh37]
Chr1:1q25.3 |
benign |
| NM_021133.4(RNASEL):c.270G>A (p.Lys90=) |
single nucleotide variant |
RNASEL-related disorder [RCV003951917] |
Chr1:182586537 [GRCh38]
Chr1:182555672 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_021133.4(RNASEL):c.195C>A (p.Asn65Lys) |
single nucleotide variant |
RNASEL-related disorder [RCV003964514] |
Chr1:182586612 [GRCh38]
Chr1:182555747 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_021133.4(RNASEL):c.1234C>G (p.Arg412Gly) |
single nucleotide variant |
RNASEL-related disorder [RCV003914666] |
Chr1:182585573 [GRCh38]
Chr1:182554708 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_021133.4(RNASEL):c.1127_1129del (p.Glu376del) |
deletion |
Prostate cancer, hereditary, 1 [RCV003991735] |
Chr1:182585678..182585680 [GRCh38]
Chr1:182554813..182554815 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1809C>T (p.Ser603=) |
single nucleotide variant |
not specified [RCV004454220] |
Chr1:182581321 [GRCh38]
Chr1:182550456 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_021133.4(RNASEL):c.52G>A (p.Gly18Ser) |
single nucleotide variant |
not specified [RCV004454226] |
Chr1:182586755 [GRCh38]
Chr1:182555890 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_021133.4(RNASEL):c.938A>T (p.Asp313Val) |
single nucleotide variant |
not specified [RCV004454229] |
Chr1:182585869 [GRCh38]
Chr1:182555004 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.965C>G (p.Ser322Cys) |
single nucleotide variant |
not specified [RCV004454230] |
Chr1:182585842 [GRCh38]
Chr1:182554977 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1220G>A (p.Cys407Tyr) |
single nucleotide variant |
not specified [RCV004454219] |
Chr1:182585587 [GRCh38]
Chr1:182554722 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1883G>A (p.Ser628Asn) |
single nucleotide variant |
not specified [RCV004454221] |
Chr1:182581247 [GRCh38]
Chr1:182550382 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.704G>T (p.Arg235Met) |
single nucleotide variant |
not specified [RCV004454228] |
Chr1:182586103 [GRCh38]
Chr1:182555238 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.1951A>G (p.Arg651Gly) |
single nucleotide variant |
not specified [RCV004454223] |
Chr1:182576344 [GRCh38]
Chr1:182545479 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.443G>C (p.Gly148Ala) |
single nucleotide variant |
not specified [RCV004454225] |
Chr1:182586364 [GRCh38]
Chr1:182555499 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.2000G>A (p.Arg667Gln) |
single nucleotide variant |
not specified [RCV004454224] |
Chr1:182576295 [GRCh38]
Chr1:182545430 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.233T>C (p.Leu78Pro) |
single nucleotide variant |
not specified [RCV004672080] |
Chr1:182586574 [GRCh38]
Chr1:182555709 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NC_000001.10:g.(?_179520308)_(183559464_?)del |
deletion |
not provided [RCV004579068] |
Chr1:179520308..183559464 [GRCh37]
Chr1:1q25.2-25.3 |
pathogenic |
| NM_021133.4(RNASEL):c.818G>T (p.Gly273Val) |
single nucleotide variant |
not specified [RCV004672081] |
Chr1:182585989 [GRCh38]
Chr1:182555124 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_021133.4(RNASEL):c.22A>C (p.Asn8His) |
single nucleotide variant |
not specified [RCV004663359] |
Chr1:182586785 [GRCh38]
Chr1:182555920 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
