| NM_030667.3(PTPRO):c.2627+1G>T |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV000023015] |
Chr12:15557524 [GRCh38]
Chr12:15710458 [GRCh37]
Chr12:12p12.3 |
pathogenic |
| NM_030667.3(PTPRO):c.2829+1G>A |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV000023016] |
Chr12:15569499 [GRCh38]
Chr12:15722433 [GRCh37]
Chr12:12p12.3 |
pathogenic |
| GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 |
copy number loss |
See cases [RCV000052776] |
Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22 |
pathogenic |
| GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1 |
copy number loss |
See cases [RCV000052780] |
Chr12:12388842..15540422 [GRCh38]
Chr12:12541776..15693356 [GRCh37]
Chr12:12433043..15584623 [NCBI36]
Chr12:12p13.2-12.3 |
pathogenic |
| GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 |
copy number gain |
See cases [RCV000053662] |
Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 |
copy number gain |
See cases [RCV000053666] |
Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 |
copy number gain |
See cases [RCV000053660] |
Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_030667.2(PTPRO):c.2560G>A (p.Glu854Lys) |
single nucleotide variant |
Malignant melanoma [RCV000062460]|Malignant melanoma of skin [RCV000149664] |
Chr12:15557456 [GRCh38]
Chr12:15710390 [GRCh37]
Chr12:15601657 [NCBI36]
Chr12:12p12.3 |
not provided |
| NM_030667.2(PTPRO):c.2814T>G (p.Phe938Leu) |
single nucleotide variant |
Malignant melanoma [RCV000062461]|Malignant melanoma of skin [RCV000149665] |
Chr12:15569483 [GRCh38]
Chr12:15722417 [GRCh37]
Chr12:15613684 [NCBI36]
Chr12:12p12.3 |
not provided |
| NM_030667.2(PTPRO):c.3363C>T (p.Val1121=) |
single nucleotide variant |
Malignant melanoma [RCV000062462] |
Chr12:15587004 [GRCh38]
Chr12:15739938 [GRCh37]
Chr12:15631205 [NCBI36]
Chr12:12p12.3 |
not provided |
| NM_030667.2(PTPRO):c.3364C>T (p.Arg1122Ter) |
single nucleotide variant |
Malignant melanoma [RCV000062463]|Malignant melanoma of skin [RCV000149667] |
Chr12:15587005 [GRCh38]
Chr12:15739939 [GRCh37]
Chr12:15631206 [NCBI36]
Chr12:12p12.3 |
not provided |
| NM_030667.2(PTPRO):c.75+43564A>G |
single nucleotide variant |
Lung cancer [RCV000110819] |
Chr12:15366365 [GRCh38]
Chr12:15519299 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.2(PTPRO):c.76-53311A>T |
single nucleotide variant |
Lung cancer [RCV000110820] |
Chr12:15430663 [GRCh38]
Chr12:15583597 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.2(PTPRO):c.76-1932G>T |
single nucleotide variant |
Lung cancer [RCV000110821] |
Chr12:15482042 [GRCh38]
Chr12:15634976 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.2(PTPRO):c.839C>A (p.Ser280Tyr) |
single nucleotide variant |
Malignant melanoma of skin [RCV000149658] |
Chr12:15501797 [GRCh38]
Chr12:15654731 [GRCh37] |
not provided |
| NM_030667.1:c.1106-9T>A |
single nucleotide variant |
Malignant melanoma of skin [RCV000149659] |
Chr12:12p12.3 |
not provided |
| NM_030667.3(PTPRO):c.1110C>G (p.Asn370Lys) |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV002503236]|not provided [RCV001755353] |
Chr12:15503912 [GRCh38]
Chr12:15656846 [GRCh37]
Chr12:12p12.3 |
benign|likely benign|not provided |
| NM_030667.2(PTPRO):c.2302C>T (p.Gln768Ter) |
single nucleotide variant |
Malignant melanoma of skin [RCV000149662] |
Chr12:15546706 [GRCh38]
Chr12:15699640 [GRCh37] |
not provided |
| GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 |
copy number gain |
See cases [RCV000136611] |
Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 |
copy number gain |
See cases [RCV000139052] |
Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 |
copy number gain |
See cases [RCV000139787] |
Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p12.3(chr12:15592098-16120442)x3 |
copy number gain |
See cases [RCV000139544] |
Chr12:15592098..16120442 [GRCh38]
Chr12:15745032..16273376 [GRCh37]
Chr12:15636299..16164643 [NCBI36]
Chr12:12p12.3 |
likely benign |
| GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 |
copy number gain |
See cases [RCV000141905] |
Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 |
copy number gain |
See cases [RCV000142149] |
Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1 |
copy number loss |
See cases [RCV000142882] |
Chr12:11121039..15908154 [GRCh38]
Chr12:11273638..16061088 [GRCh37]
Chr12:11164905..15952355 [NCBI36]
Chr12:12p13.2-12.3 |
likely pathogenic |
| NM_030667.2(PTPRO):c.1444G>A (p.Glu482Lys) |
single nucleotide variant |
Malignant melanoma of skin [RCV000149661] |
Chr12:15508747 [GRCh38]
Chr12:15661681 [GRCh37] |
not provided |
| NM_030667.2(PTPRO):c.2321C>T (p.Ser774Phe) |
single nucleotide variant |
Malignant melanoma of skin [RCV000149663] |
Chr12:15549110 [GRCh38]
Chr12:15702044 [GRCh37] |
not provided |
| NM_030667.2(PTPRO):c.3223G>A (p.Asp1075Asn) |
single nucleotide variant |
Malignant melanoma of skin [RCV000149666] |
Chr12:15581769 [GRCh38]
Chr12:15734703 [GRCh37] |
not provided |
| NM_030667.2(PTPRO):c.3506C>T (p.Ser1169Leu) |
single nucleotide variant |
Malignant melanoma of skin [RCV000149668] |
Chr12:15589550 [GRCh38]
Chr12:15742484 [GRCh37] |
not provided |
| GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 |
copy number gain |
See cases [RCV000240164] |
Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
| chr12:10074776-18800953 complex variant |
complex |
Ductal breast carcinoma [RCV000207105] |
Chr12:10074776..18800953 [GRCh37]
Chr12:12p13.31-12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.948_951dup (p.Pro318fs) |
duplication |
not provided [RCV000722228] |
Chr12:15501904..15501905 [GRCh38]
Chr12:15654838..15654839 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| GRCh37/hg19 12p12.3(chr12:15034827-15677320)x1 |
copy number loss |
See cases [RCV000240366] |
Chr12:15034827..15677320 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 |
copy number gain |
See cases [RCV000240487] |
Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 |
copy number gain |
See cases [RCV000449191] |
Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11 |
pathogenic |
| GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 |
copy number gain |
See cases [RCV000449287] |
Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 |
copy number gain |
See cases [RCV000447551] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 |
copy number gain |
See cases [RCV000446050] |
Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) |
copy number gain |
See cases [RCV000446017] |
Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 |
copy number gain |
See cases [RCV000511580] |
Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
likely pathogenic |
| GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 |
copy number gain |
See cases [RCV000510961] |
Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22 |
pathogenic |
| NM_030667.3(PTPRO):c.844G>A (p.Gly282Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003240514] |
Chr12:15501802 [GRCh38]
Chr12:15654736 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3513G>A (p.Met1171Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003263559] |
Chr12:15589557 [GRCh38]
Chr12:15742491 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 |
copy number gain |
not provided [RCV000683478] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 |
copy number gain |
not provided [RCV000683479] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 |
copy number gain |
not provided [RCV000683480] |
Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 |
copy number gain |
not provided [RCV000750245] |
Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21 |
pathogenic |
| NM_030667.3(PTPRO):c.2438-335G>A |
single nucleotide variant |
not provided [RCV001691675] |
Chr12:15551216 [GRCh38]
Chr12:15704150 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2712-140_2712-139insTTAA |
insertion |
not provided [RCV001648628] |
Chr12:15565450..15565451 [GRCh38]
Chr12:15718384..15718385 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1586-144A>G |
single nucleotide variant |
not provided [RCV001679398] |
Chr12:15516619 [GRCh38]
Chr12:15669553 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1268-263A>G |
single nucleotide variant |
not provided [RCV001680805] |
Chr12:15508308 [GRCh38]
Chr12:15661242 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3411-64_3411-63del |
deletion |
not provided [RCV001680922] |
Chr12:15589380..15589381 [GRCh38]
Chr12:15742314..15742315 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2304+130C>G |
single nucleotide variant |
not provided [RCV001707366] |
Chr12:15546838 [GRCh38]
Chr12:15699772 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1586-152_1586-145dup |
duplication |
not provided [RCV001668742] |
Chr12:15516606..15516607 [GRCh38]
Chr12:15669540..15669541 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2100C>T (p.Asn700=) |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV002502988]|not provided [RCV000957668] |
Chr12:15526198 [GRCh38]
Chr12:15679132 [GRCh37]
Chr12:12p12.3 |
benign|likely benign |
| NM_030667.3(PTPRO):c.663C>T (p.Ala221=) |
single nucleotide variant |
not provided [RCV000905004] |
Chr12:15501621 [GRCh38]
Chr12:15654555 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1572G>A (p.Val524=) |
single nucleotide variant |
not provided [RCV000912573] |
Chr12:15515605 [GRCh38]
Chr12:15668539 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3222C>T (p.Asp1074=) |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV002479057]|not provided [RCV000912948] |
Chr12:15581768 [GRCh38]
Chr12:15734702 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2256T>C (p.Phe752=) |
single nucleotide variant |
not provided [RCV000881643] |
Chr12:15546660 [GRCh38]
Chr12:15699594 [GRCh37]
Chr12:12p12.3 |
benign|likely benign |
| NM_030667.3(PTPRO):c.2829+8G>A |
single nucleotide variant |
not provided [RCV000881644] |
Chr12:15569506 [GRCh38]
Chr12:15722440 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3470G>A (p.Arg1157Gln) |
single nucleotide variant |
not provided [RCV000882217] |
Chr12:15589514 [GRCh38]
Chr12:15742448 [GRCh37]
Chr12:12p12.3 |
benign|likely benign |
| NM_030667.3(PTPRO):c.2164+10G>A |
single nucleotide variant |
not provided [RCV000932888] |
Chr12:15526272 [GRCh38]
Chr12:15679206 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1327G>A (p.Val443Ile) |
single nucleotide variant |
not provided [RCV000953461] |
Chr12:15508630 [GRCh38]
Chr12:15661564 [GRCh37]
Chr12:12p12.3 |
benign|likely benign |
| NM_030667.3(PTPRO):c.1465-9G>T |
single nucleotide variant |
not provided [RCV000954866] |
Chr12:15515489 [GRCh38]
Chr12:15668423 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1776C>T (p.Ser592=) |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV002479132]|not provided [RCV000970473] |
Chr12:15516953 [GRCh38]
Chr12:15669887 [GRCh37]
Chr12:12p12.3 |
benign|likely benign |
| NM_030667.3(PTPRO):c.1973C>T (p.Thr658Met) |
single nucleotide variant |
not provided [RCV000827062] |
Chr12:15524895 [GRCh38]
Chr12:15677829 [GRCh37]
Chr12:12p12.3 |
likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 12p12.3(chr12:15745414-15961746)x3 |
copy number gain |
not provided [RCV000849630] |
Chr12:15745414..15961746 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 |
copy number gain |
not provided [RCV000847209] |
Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1 |
copy number loss |
not provided [RCV001006482] |
Chr12:11737824..16780886 [GRCh37]
Chr12:12p13.2-12.3 |
pathogenic |
| GRCh37/hg19 12p12.3(chr12:15630989-16090925)x3 |
copy number gain |
not provided [RCV000847632] |
Chr12:15630989..16090925 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1874C>T (p.Thr625Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003240212] |
Chr12:15520295 [GRCh38]
Chr12:15673229 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2437+43AT[7] |
microsatellite |
not provided [RCV003313525] |
Chr12:15549269..15549270 [GRCh38]
Chr12:15702203..15702204 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1586-244AAAAG[4] |
microsatellite |
not provided [RCV001638700] |
Chr12:15516518..15516519 [GRCh38]
Chr12:15669452..15669453 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1586-200G>A |
single nucleotide variant |
not provided [RCV001596244] |
Chr12:15516563 [GRCh38]
Chr12:15669497 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2830-63_2830-62insG |
insertion |
not provided [RCV001615894] |
Chr12:15578790..15578791 [GRCh38]
Chr12:15731724..15731725 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2628-70A>G |
single nucleotide variant |
not provided [RCV001598894] |
Chr12:15560123 [GRCh38]
Chr12:15713057 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.661+123T>C |
single nucleotide variant |
not provided [RCV001648626] |
Chr12:15499717 [GRCh38]
Chr12:15652651 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2164+12G>A |
single nucleotide variant |
not provided [RCV001672122] |
Chr12:15526274 [GRCh38]
Chr12:15679208 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3133-327G>T |
single nucleotide variant |
not provided [RCV001639216] |
Chr12:15581352 [GRCh38]
Chr12:15734286 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1586-283AG[2] |
microsatellite |
not provided [RCV001611800] |
Chr12:15516480..15516483 [GRCh38]
Chr12:15669414..15669417 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2088C>A (p.Gly696=) |
single nucleotide variant |
not provided [RCV001670886] |
Chr12:15526186 [GRCh38]
Chr12:15679120 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3410+309C>A |
single nucleotide variant |
not provided [RCV001683768] |
Chr12:15587360 [GRCh38]
Chr12:15740294 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2830-254T>C |
single nucleotide variant |
not provided [RCV001537563] |
Chr12:15578599 [GRCh38]
Chr12:15731533 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.682A>G (p.Ile228Val) |
single nucleotide variant |
not provided [RCV000879324] |
Chr12:15501640 [GRCh38]
Chr12:15654574 [GRCh37]
Chr12:12p12.3 |
benign|likely benign |
| NM_030667.3(PTPRO):c.3546+10T>C |
single nucleotide variant |
not provided [RCV000906861] |
Chr12:15589600 [GRCh38]
Chr12:15742534 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2841G>A (p.Leu947=) |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV002488035]|not provided [RCV000952978] |
Chr12:15578864 [GRCh38]
Chr12:15731798 [GRCh37]
Chr12:12p12.3 |
benign|likely benign |
| NM_030667.3(PTPRO):c.3547-132A>G |
single nucleotide variant |
not provided [RCV001766309] |
Chr12:15594805 [GRCh38]
Chr12:15747739 [GRCh37]
Chr12:12p12.3 |
likely benign |
| GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 |
copy number gain |
not provided [RCV001006470] |
Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11 |
pathogenic |
| NM_030667.3(PTPRO):c.2305-176G>A |
single nucleotide variant |
not provided [RCV001594687] |
Chr12:15548918 [GRCh38]
Chr12:15701852 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3133-134_3133-133insGTATT |
insertion |
not provided [RCV001660879] |
Chr12:15581543..15581544 [GRCh38]
Chr12:15734477..15734478 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3255+321A>C |
single nucleotide variant |
not provided [RCV001595366] |
Chr12:15582122 [GRCh38]
Chr12:15735056 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1780-32C>T |
single nucleotide variant |
not provided [RCV001643607] |
Chr12:15520169 [GRCh38]
Chr12:15673103 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.108T>C (p.Asp36=) |
single nucleotide variant |
not provided [RCV001620591] |
Chr12:15484006 [GRCh38]
Chr12:15636940 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.509-156A>G |
single nucleotide variant |
not provided [RCV001530676] |
Chr12:15499286 [GRCh38]
Chr12:15652220 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1586-112T>G |
single nucleotide variant |
not provided [RCV001654125] |
Chr12:15516651 [GRCh38]
Chr12:15669585 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1268-231G>A |
single nucleotide variant |
not provided [RCV001596819] |
Chr12:15508340 [GRCh38]
Chr12:15661274 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2438-60G>T |
single nucleotide variant |
not provided [RCV001596682] |
Chr12:15551491 [GRCh38]
Chr12:15704425 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1465-280G>A |
single nucleotide variant |
not provided [RCV001595476] |
Chr12:15515218 [GRCh38]
Chr12:15668152 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2997+67T>A |
single nucleotide variant |
not provided [RCV001720908] |
Chr12:15580182 [GRCh38]
Chr12:15733116 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.349+211C>A |
single nucleotide variant |
not provided [RCV001619387] |
Chr12:15484458 [GRCh38]
Chr12:15637392 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.509-46T>C |
single nucleotide variant |
not provided [RCV001636515] |
Chr12:15499396 [GRCh38]
Chr12:15652330 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3255+65G>A |
single nucleotide variant |
not provided [RCV001621555] |
Chr12:15581866 [GRCh38]
Chr12:15734800 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2829+123A>G |
single nucleotide variant |
not provided [RCV001617550] |
Chr12:15569621 [GRCh38]
Chr12:15722555 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1105+160T>G |
single nucleotide variant |
not provided [RCV001670852] |
Chr12:15502223 [GRCh38]
Chr12:15655157 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1779+290A>C |
single nucleotide variant |
not provided [RCV001676334] |
Chr12:15517246 [GRCh38]
Chr12:15670180 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2830-248T>C |
single nucleotide variant |
not provided [RCV001618203] |
Chr12:15578605 [GRCh38]
Chr12:15731539 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2043+239A>G |
single nucleotide variant |
not provided [RCV001638203] |
Chr12:15525204 [GRCh38]
Chr12:15678138 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3255+320C>A |
single nucleotide variant |
not provided [RCV001650723] |
Chr12:15582121 [GRCh38]
Chr12:15735055 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1268-281A>T |
single nucleotide variant |
not provided [RCV001678296] |
Chr12:15508290 [GRCh38]
Chr12:15661224 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2830-43C>T |
single nucleotide variant |
not provided [RCV001635843] |
Chr12:15578810 [GRCh38]
Chr12:15731744 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1586-144_1586-143insGGAAGGG |
insertion |
not provided [RCV001610878] |
Chr12:15516619..15516620 [GRCh38]
Chr12:15669553..15669554 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1586-145dup |
duplication |
not provided [RCV001707112] |
Chr12:15516616..15516617 [GRCh38]
Chr12:15669550..15669551 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1268-64A>G |
single nucleotide variant |
not provided [RCV001685711] |
Chr12:15508507 [GRCh38]
Chr12:15661441 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3411-63del |
deletion |
not provided [RCV001707146] |
Chr12:15589380 [GRCh38]
Chr12:15742314 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.349+155C>T |
single nucleotide variant |
not provided [RCV001541583] |
Chr12:15484402 [GRCh38]
Chr12:15637336 [GRCh37]
Chr12:12p12.3 |
benign |
| Single allele |
single nucleotide variant |
not provided [RCV001684060] |
Chr12:15322293 [GRCh38]
Chr12:15475227 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3036G>A (p.Gly1012=) |
single nucleotide variant |
not provided [RCV001671236] |
Chr12:15580735 [GRCh38]
Chr12:15733669 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2997+200A>T |
single nucleotide variant |
not provided [RCV001534052] |
Chr12:15580315 [GRCh38]
Chr12:15733249 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3255+83C>T |
single nucleotide variant |
not provided [RCV001668669] |
Chr12:15581884 [GRCh38]
Chr12:15734818 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.350-280T>C |
single nucleotide variant |
not provided [RCV001527815] |
Chr12:15496965 [GRCh38]
Chr12:15649899 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1464+284G>A |
single nucleotide variant |
not provided [RCV001690557] |
Chr12:15509051 [GRCh38]
Chr12:15661985 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.349+219T>G |
single nucleotide variant |
not provided [RCV001669716] |
Chr12:15484466 [GRCh38]
Chr12:15637400 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2305-21C>T |
single nucleotide variant |
not provided [RCV001651627] |
Chr12:15549073 [GRCh38]
Chr12:15702007 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2747+199A>G |
single nucleotide variant |
not provided [RCV001641559] |
Chr12:15565827 [GRCh38]
Chr12:15718761 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3497G>C (p.Gly1166Ala) |
single nucleotide variant |
Corticosteroids response [RCV001261438]|not provided [RCV002541579] |
Chr12:15589541 [GRCh38]
Chr12:15742475 [GRCh37]
Chr12:12p12.3 |
likely benign|drug response |
| NM_030667.3(PTPRO):c.1626T>C (p.Gly542=) |
single nucleotide variant |
not provided [RCV001676023]|not specified [RCV001528650] |
Chr12:15516803 [GRCh38]
Chr12:15669737 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1106-10T>A |
single nucleotide variant |
Corticosteroids response [RCV001261437]|not provided [RCV001683757]|not specified [RCV001528296] |
Chr12:15503898 [GRCh38]
Chr12:15656832 [GRCh37]
Chr12:12p12.3 |
benign|drug response |
| NM_030667.3(PTPRO):c.1733C>T (p.Thr578Ile) |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV001330074] |
Chr12:15516910 [GRCh38]
Chr12:15669844 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1792C>G (p.Leu598Val) |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV001334288] |
Chr12:15520213 [GRCh38]
Chr12:15673147 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3132+147A>C |
single nucleotide variant |
not provided [RCV001666418] |
Chr12:15580978 [GRCh38]
Chr12:15733912 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2829+243C>T |
single nucleotide variant |
not provided [RCV001682304] |
Chr12:15569741 [GRCh38]
Chr12:15722675 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2559-119C>G |
single nucleotide variant |
not provided [RCV001693737] |
Chr12:15557336 [GRCh38]
Chr12:15710270 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2921-18T>C |
single nucleotide variant |
not provided [RCV001688523] |
Chr12:15580021 [GRCh38]
Chr12:15732955 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2043+93A>T |
single nucleotide variant |
not provided [RCV001687241] |
Chr12:15525058 [GRCh38]
Chr12:15677992 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.662-165T>C |
single nucleotide variant |
not provided [RCV001615917] |
Chr12:15501455 [GRCh38]
Chr12:15654389 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1464+269T>A |
single nucleotide variant |
not provided [RCV001684719] |
Chr12:15509036 [GRCh38]
Chr12:15661970 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1779+298T>C |
single nucleotide variant |
not provided [RCV001682106] |
Chr12:15517254 [GRCh38]
Chr12:15670188 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.*16+29C>T |
single nucleotide variant |
not provided [RCV001671806] |
Chr12:15595086 [GRCh38]
Chr12:15748020 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.3255+226T>C |
single nucleotide variant |
not provided [RCV001647816] |
Chr12:15582027 [GRCh38]
Chr12:15734961 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.661+284T>C |
single nucleotide variant |
not provided [RCV001696338] |
Chr12:15499878 [GRCh38]
Chr12:15652812 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2712-2del |
deletion |
not provided [RCV001379852] |
Chr12:15565591 [GRCh38]
Chr12:15718525 [GRCh37]
Chr12:12p12.3 |
likely pathogenic |
| NM_030667.3(PTPRO):c.2055T>C (p.Asn685=) |
single nucleotide variant |
not provided [RCV003108794] |
Chr12:15526153 [GRCh38]
Chr12:15679087 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1892-173_1892-172insCTTGTTGTA |
insertion |
not provided [RCV001759135] |
Chr12:15524640..15524641 [GRCh38]
Chr12:15677574..15677575 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2997+223G>A |
single nucleotide variant |
not provided [RCV001768036] |
Chr12:15580338 [GRCh38]
Chr12:15733272 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1892-177_1892-176insTAT |
insertion |
not provided [RCV001768103] |
Chr12:15524637..15524638 [GRCh38]
Chr12:15677571..15677572 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.508+19G>A |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV002503242]|not provided [RCV001769520] |
Chr12:15497422 [GRCh38]
Chr12:15650356 [GRCh37]
Chr12:12p12.3 |
benign|likely benign |
| NM_030667.3(PTPRO):c.2712-92T>A |
single nucleotide variant |
not provided [RCV001774996] |
Chr12:15565501 [GRCh38]
Chr12:15718435 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2748-273T>C |
single nucleotide variant |
not provided [RCV001774998] |
Chr12:15569144 [GRCh38]
Chr12:15722078 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1464+278G>A |
single nucleotide variant |
not provided [RCV001769800] |
Chr12:15509045 [GRCh38]
Chr12:15661979 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2998-204A>C |
single nucleotide variant |
not provided [RCV001769955] |
Chr12:15580493 [GRCh38]
Chr12:15733427 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2165-5C>A |
single nucleotide variant |
not provided [RCV001767939] |
Chr12:15546564 [GRCh38]
Chr12:15699498 [GRCh37]
Chr12:12p12.3 |
benign|likely benign |
| NM_030667.3(PTPRO):c.3410+248T>C |
single nucleotide variant |
not provided [RCV001769804] |
Chr12:15587299 [GRCh38]
Chr12:15740233 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.3256-168dup |
duplication |
not provided [RCV001769809] |
Chr12:15586719..15586720 [GRCh38]
Chr12:15739653..15739654 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2712-157T>C |
single nucleotide variant |
not provided [RCV001769915] |
Chr12:15565436 [GRCh38]
Chr12:15718370 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2748-105C>T |
single nucleotide variant |
not provided [RCV001774997] |
Chr12:15569312 [GRCh38]
Chr12:15722246 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1105+29A>T |
single nucleotide variant |
not provided [RCV001800027] |
Chr12:15502092 [GRCh38]
Chr12:15655026 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1892-58G>A |
single nucleotide variant |
not provided [RCV001759136] |
Chr12:15524756 [GRCh38]
Chr12:15677690 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2438-199C>G |
single nucleotide variant |
not provided [RCV001759182] |
Chr12:15551352 [GRCh38]
Chr12:15704286 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2558+328A>T |
single nucleotide variant |
not provided [RCV001759184] |
Chr12:15551999 [GRCh38]
Chr12:15704933 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2165-266T>G |
single nucleotide variant |
not provided [RCV001759325] |
Chr12:15546303 [GRCh38]
Chr12:15699237 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2043+151G>A |
single nucleotide variant |
not provided [RCV001759137] |
Chr12:15525116 [GRCh38]
Chr12:15678050 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2997+227A>G |
single nucleotide variant |
not provided [RCV001759186] |
Chr12:15580342 [GRCh38]
Chr12:15733276 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1586-124G>A |
single nucleotide variant |
not provided [RCV001753062] |
Chr12:15516639 [GRCh38]
Chr12:15669573 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.3411-76G>A |
single nucleotide variant |
not provided [RCV001768094] |
Chr12:15589379 [GRCh38]
Chr12:15742313 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.3546+130A>G |
single nucleotide variant |
not provided [RCV001769522] |
Chr12:15589720 [GRCh38]
Chr12:15742654 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1586-241del |
deletion |
not provided [RCV001769521] |
Chr12:15516518 [GRCh38]
Chr12:15669452 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2044-241A>C |
single nucleotide variant |
not provided [RCV001769824] |
Chr12:15525901 [GRCh38]
Chr12:15678835 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2437+19_2437+20insAAA |
insertion |
not provided [RCV001759183] |
Chr12:15549245..15549246 [GRCh38]
Chr12:15702179..15702180 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2437+24A>T |
single nucleotide variant |
not provided [RCV001759185] |
Chr12:15549250 [GRCh38]
Chr12:15702184 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1585+90G>A |
single nucleotide variant |
not provided [RCV001767940] |
Chr12:15515708 [GRCh38]
Chr12:15668642 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.3411-155C>T |
single nucleotide variant |
not provided [RCV001768035] |
Chr12:15589300 [GRCh38]
Chr12:15742234 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2437+20_2437+21insCTGGTCTTTGGAAGTTCTTTCCATATTTTTTTCC |
insertion |
not provided [RCV001768157] |
Chr12:15549246..15549247 [GRCh38]
Chr12:15702180..15702181 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.3132+133G>A |
single nucleotide variant |
not provided [RCV001776605] |
Chr12:15580964 [GRCh38]
Chr12:15733898 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.76-109A>G |
single nucleotide variant |
not provided [RCV001757283] |
Chr12:15483865 [GRCh38]
Chr12:15636799 [GRCh37]
Chr12:12p12.3 |
likely benign |
| GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) |
copy number gain |
not specified [RCV002052955] |
Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) |
copy number gain |
not specified [RCV002052957] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_030667.3(PTPRO):c.1085A>G (p.His362Arg) |
single nucleotide variant |
not provided [RCV002021423] |
Chr12:15502043 [GRCh38]
Chr12:15654977 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) |
copy number gain |
not specified [RCV002052958] |
Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11 |
pathogenic |
| NM_030667.3(PTPRO):c.497T>C (p.Met166Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003269104]|Nephrotic syndrome, type 6 [RCV002486734]|not provided [RCV002026932] |
Chr12:15497392 [GRCh38]
Chr12:15650326 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3053G>C (p.Arg1018Thr) |
single nucleotide variant |
not provided [RCV001867105] |
Chr12:15580752 [GRCh38]
Chr12:15733686 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.998C>T (p.Ser333Leu) |
single nucleotide variant |
not provided [RCV002035874] |
Chr12:15501956 [GRCh38]
Chr12:15654890 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3104T>G (p.Met1035Arg) |
single nucleotide variant |
not provided [RCV002019172] |
Chr12:15580803 [GRCh38]
Chr12:15733737 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2437+19_2437+20insAAATCTGGTCTTTGGAAGTTCTTTCCATATTTTTTTC |
insertion |
not provided [RCV002047721] |
Chr12:15549245..15549246 [GRCh38]
Chr12:15702179..15702180 [GRCh37]
Chr12:12p12.3 |
likely benign|uncertain significance |
| NM_030667.3(PTPRO):c.1611G>T (p.Met537Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002573478]|Nephrotic syndrome, type 6 [RCV002497935]|not provided [RCV001998448] |
Chr12:15516788 [GRCh38]
Chr12:15669722 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NC_000012.11:g.(?_14849146)_(15669910_?)dup |
duplication |
not provided [RCV001978819] |
Chr12:14849146..15669910 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NC_000012.11:g.(?_11803062)_(15835885_?)dup |
duplication |
Intellectual disability, autosomal dominant 6 [RCV001931714]|not provided [RCV001946435] |
Chr12:11803062..15835885 [GRCh37]
Chr12:12p13.2-12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3261C>T (p.Asp1087=) |
single nucleotide variant |
not provided [RCV002124670] |
Chr12:15586902 [GRCh38]
Chr12:15739836 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2406T>C (p.Ser802=) |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV002499963]|not provided [RCV002107544] |
Chr12:15549195 [GRCh38]
Chr12:15702129 [GRCh37]
Chr12:12p12.3 |
benign|likely benign |
| NM_030667.3(PTPRO):c.3222C>A (p.Asp1074Glu) |
single nucleotide variant |
not provided [RCV002090836] |
Chr12:15581768 [GRCh38]
Chr12:15734702 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.612C>T (p.Thr204=) |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV002498182]|not provided [RCV002190013] |
Chr12:15499545 [GRCh38]
Chr12:15652479 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2437+20T>C |
single nucleotide variant |
not provided [RCV002116217] |
Chr12:15549246 [GRCh38]
Chr12:15702180 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.31G>T (p.Ala11Ser) |
single nucleotide variant |
not provided [RCV002078877] |
Chr12:15322757 [GRCh38]
Chr12:15475691 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2997+18del |
deletion |
Nephrotic syndrome, type 6 [RCV002500178]|not provided [RCV002132557] |
Chr12:15580124 [GRCh38]
Chr12:15733058 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2103C>T (p.Leu701=) |
single nucleotide variant |
not provided [RCV002203825] |
Chr12:15526201 [GRCh38]
Chr12:15679135 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.661+9C>T |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV002508068]|not provided [RCV002099207] |
Chr12:15499603 [GRCh38]
Chr12:15652537 [GRCh37]
Chr12:12p12.3 |
benign|likely benign |
| NM_030667.3(PTPRO):c.336C>T (p.Ile112=) |
single nucleotide variant |
not provided [RCV003110553] |
Chr12:15484234 [GRCh38]
Chr12:15637168 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.3262G>A (p.Glu1088Lys) |
single nucleotide variant |
not provided [RCV003115257] |
Chr12:15586903 [GRCh38]
Chr12:15739837 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3043C>T (p.Pro1015Ser) |
single nucleotide variant |
Corticosteroids response [RCV002271961] |
Chr12:15580742 [GRCh38]
Chr12:15733676 [GRCh37]
Chr12:12p12.3 |
drug response |
| Single allele |
microsatellite |
not provided [RCV002286055] |
Chr12:15322057..15322058 [GRCh38]
Chr12:15474991..15474992 [GRCh37]
Chr12:12p12.3 |
likely benign |
| GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1 |
copy number loss |
not provided [RCV002292878] |
Chr12:10853887..24103810 [GRCh37]
Chr12:12p13.2-12.1 |
pathogenic |
| NM_030667.3(PTPRO):c.47C>G (p.Pro16Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002772850] |
Chr12:15322773 [GRCh38]
Chr12:15475707 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.22A>C (p.Ile8Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002879693] |
Chr12:15322748 [GRCh38]
Chr12:15475682 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2128G>A (p.Gly710Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002754704] |
Chr12:15526226 [GRCh38]
Chr12:15679160 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2747+18T>G |
single nucleotide variant |
not provided [RCV002839208] |
Chr12:15565646 [GRCh38]
Chr12:15718580 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2421A>C (p.Ile807=) |
single nucleotide variant |
not provided [RCV002730892] |
Chr12:15549210 [GRCh38]
Chr12:15702144 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2976C>T (p.Tyr992=) |
single nucleotide variant |
not provided [RCV002756693] |
Chr12:15580094 [GRCh38]
Chr12:15733028 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1859G>T (p.Cys620Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002793737] |
Chr12:15520280 [GRCh38]
Chr12:15673214 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.111TAA[1] (p.Asn39del) |
microsatellite |
not provided [RCV002971088] |
Chr12:15484008..15484010 [GRCh38]
Chr12:15636942..15636944 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2519C>T (p.Thr840Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002616505]|not provided [RCV002628181] |
Chr12:15551632 [GRCh38]
Chr12:15704566 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2410C>T (p.Pro804Ser) |
single nucleotide variant |
not provided [RCV003017116] |
Chr12:15549199 [GRCh38]
Chr12:15702133 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.73A>G (p.Lys25Glu) |
single nucleotide variant |
not provided [RCV002613510] |
Chr12:15322799 [GRCh38]
Chr12:15475733 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3463C>G (p.His1155Asp) |
single nucleotide variant |
not provided [RCV002994400] |
Chr12:15589507 [GRCh38]
Chr12:15742441 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1491A>G (p.Glu497=) |
single nucleotide variant |
not provided [RCV002999355] |
Chr12:15515524 [GRCh38]
Chr12:15668458 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2165-20A>T |
single nucleotide variant |
not provided [RCV002781454] |
Chr12:15546549 [GRCh38]
Chr12:15699483 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1639G>A (p.Val547Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002762603] |
Chr12:15516816 [GRCh38]
Chr12:15669750 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.856T>C (p.Phe286Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002887948] |
Chr12:15501814 [GRCh38]
Chr12:15654748 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1551T>G (p.Ile517Met) |
single nucleotide variant |
not provided [RCV002636794] |
Chr12:15515584 [GRCh38]
Chr12:15668518 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.946G>A (p.Val316Ile) |
single nucleotide variant |
not provided [RCV002912758] |
Chr12:15501904 [GRCh38]
Chr12:15654838 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.843C>T (p.Ser281=) |
single nucleotide variant |
not provided [RCV002909841] |
Chr12:15501801 [GRCh38]
Chr12:15654735 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.751T>A (p.Ser251Thr) |
single nucleotide variant |
not provided [RCV002569793] |
Chr12:15501709 [GRCh38]
Chr12:15654643 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3414T>C (p.Ala1138=) |
single nucleotide variant |
not provided [RCV002913412] |
Chr12:15589458 [GRCh38]
Chr12:15742392 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.23T>C (p.Ile8Thr) |
single nucleotide variant |
not provided [RCV003036338] |
Chr12:15322749 [GRCh38]
Chr12:15475683 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1262A>G (p.Tyr421Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002911147] |
Chr12:15504064 [GRCh38]
Chr12:15656998 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1905G>A (p.Pro635=) |
single nucleotide variant |
not provided [RCV002619151] |
Chr12:15524827 [GRCh38]
Chr12:15677761 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.956T>C (p.Met319Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002888517] |
Chr12:15501914 [GRCh38]
Chr12:15654848 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.60C>G (p.Leu20=) |
single nucleotide variant |
not provided [RCV003080799] |
Chr12:15322786 [GRCh38]
Chr12:15475720 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.109G>A (p.Asp37Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002870209] |
Chr12:15484007 [GRCh38]
Chr12:15636941 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2305-1G>C |
single nucleotide variant |
not provided [RCV003035283] |
Chr12:15549093 [GRCh38]
Chr12:15702027 [GRCh37]
Chr12:12p12.3 |
likely pathogenic |
| NM_030667.3(PTPRO):c.75+9G>C |
single nucleotide variant |
not provided [RCV002596235] |
Chr12:15322810 [GRCh38]
Chr12:15475744 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.561T>C (p.Tyr187=) |
single nucleotide variant |
not provided [RCV002918882] |
Chr12:15499494 [GRCh38]
Chr12:15652428 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2209A>G (p.Thr737Ala) |
single nucleotide variant |
not provided [RCV003007721] |
Chr12:15546613 [GRCh38]
Chr12:15699547 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.550G>C (p.Gly184Arg) |
single nucleotide variant |
not provided [RCV002932910] |
Chr12:15499483 [GRCh38]
Chr12:15652417 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2751G>A (p.Pro917=) |
single nucleotide variant |
not provided [RCV003007324] |
Chr12:15569420 [GRCh38]
Chr12:15722354 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3519A>G (p.Ser1173=) |
single nucleotide variant |
not provided [RCV002575633] |
Chr12:15589563 [GRCh38]
Chr12:15742497 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1578T>C (p.Phe526=) |
single nucleotide variant |
not provided [RCV002931905] |
Chr12:15515611 [GRCh38]
Chr12:15668545 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.3271G>C (p.Asp1091His) |
single nucleotide variant |
Inborn genetic diseases [RCV002764111] |
Chr12:15586912 [GRCh38]
Chr12:15739846 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2997+17A>T |
single nucleotide variant |
not provided [RCV002574001] |
Chr12:15580132 [GRCh38]
Chr12:15733066 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.3133-12T>C |
single nucleotide variant |
not provided [RCV002790076] |
Chr12:15581667 [GRCh38]
Chr12:15734601 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2748-12T>C |
single nucleotide variant |
not provided [RCV002594145] |
Chr12:15569405 [GRCh38]
Chr12:15722339 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.639C>T (p.His213=) |
single nucleotide variant |
not provided [RCV003004979] |
Chr12:15499572 [GRCh38]
Chr12:15652506 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2284A>G (p.Ser762Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002696450] |
Chr12:15546688 [GRCh38]
Chr12:15699622 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1668C>T (p.Gly556=) |
single nucleotide variant |
not provided [RCV003082060] |
Chr12:15516845 [GRCh38]
Chr12:15669779 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3598A>C (p.Lys1200Gln) |
single nucleotide variant |
not provided [RCV002667443] |
Chr12:15594988 [GRCh38]
Chr12:15747922 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1586-19C>A |
single nucleotide variant |
not provided [RCV002790902] |
Chr12:15516744 [GRCh38]
Chr12:15669678 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.1241C>G (p.Ser414Ter) |
single nucleotide variant |
not provided [RCV003042161] |
Chr12:15504043 [GRCh38]
Chr12:15656977 [GRCh37]
Chr12:12p12.3 |
pathogenic |
| NM_030667.3(PTPRO):c.901G>C (p.Asp301His) |
single nucleotide variant |
Inborn genetic diseases [RCV003274038]|not provided [RCV002790634] |
Chr12:15501859 [GRCh38]
Chr12:15654793 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1255A>G (p.Ser419Gly) |
single nucleotide variant |
not provided [RCV002900406] |
Chr12:15504057 [GRCh38]
Chr12:15656991 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3371A>G (p.Gln1124Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002719242] |
Chr12:15587012 [GRCh38]
Chr12:15739946 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.953C>T (p.Pro318Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002961000] |
Chr12:15501911 [GRCh38]
Chr12:15654845 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1222G>C (p.Glu408Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002668679] |
Chr12:15504024 [GRCh38]
Chr12:15656958 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2558+20T>C |
single nucleotide variant |
not provided [RCV002578760] |
Chr12:15551691 [GRCh38]
Chr12:15704625 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1912A>G (p.Thr638Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002921368] |
Chr12:15524834 [GRCh38]
Chr12:15677768 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3162G>A (p.Thr1054=) |
single nucleotide variant |
not provided [RCV002961894] |
Chr12:15581708 [GRCh38]
Chr12:15734642 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.120C>T (p.Ile40=) |
single nucleotide variant |
not provided [RCV002720377] |
Chr12:15484018 [GRCh38]
Chr12:15636952 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2757A>G (p.Gln919=) |
single nucleotide variant |
not provided [RCV002938478] |
Chr12:15569426 [GRCh38]
Chr12:15722360 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.3133-18G>T |
single nucleotide variant |
not provided [RCV002601660] |
Chr12:15581661 [GRCh38]
Chr12:15734595 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.822T>A (p.Ile274=) |
single nucleotide variant |
not provided [RCV003089967] |
Chr12:15501780 [GRCh38]
Chr12:15654714 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1128G>A (p.Met376Ile) |
single nucleotide variant |
not provided [RCV002962139] |
Chr12:15503930 [GRCh38]
Chr12:15656864 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.689T>C (p.Val230Ala) |
single nucleotide variant |
not provided [RCV003088451] |
Chr12:15501647 [GRCh38]
Chr12:15654581 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1289A>C (p.Glu430Ala) |
single nucleotide variant |
not provided [RCV002720138] |
Chr12:15508592 [GRCh38]
Chr12:15661526 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.3533T>C (p.Met1178Thr) |
single nucleotide variant |
not provided [RCV002966730] |
Chr12:15589577 [GRCh38]
Chr12:15742511 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2473G>A (p.Val825Met) |
single nucleotide variant |
not provided [RCV002649811] |
Chr12:15551586 [GRCh38]
Chr12:15704520 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1875C>T (p.Thr625=) |
single nucleotide variant |
not provided [RCV002899043] |
Chr12:15520296 [GRCh38]
Chr12:15673230 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1777G>A (p.Val593Met) |
single nucleotide variant |
not provided [RCV003086079] |
Chr12:15516954 [GRCh38]
Chr12:15669888 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.350-14_350-9del |
deletion |
not provided [RCV002584264] |
Chr12:15497231..15497236 [GRCh38]
Chr12:15650165..15650170 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2226G>A (p.Leu742=) |
single nucleotide variant |
not provided [RCV003067682] |
Chr12:15546630 [GRCh38]
Chr12:15699564 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_030667.3(PTPRO):c.2920+9G>A |
single nucleotide variant |
not provided [RCV003069483] |
Chr12:15578952 [GRCh38]
Chr12:15731886 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.1949del (p.Ser650fs) |
deletion |
not provided [RCV003032016] |
Chr12:15524871 [GRCh38]
Chr12:15677805 [GRCh37]
Chr12:12p12.3 |
pathogenic |
| NM_030667.3(PTPRO):c.2299C>G (p.Leu767Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002656553] |
Chr12:15546703 [GRCh38]
Chr12:15699637 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1705A>G (p.Asn569Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003167457]|not provided [RCV002608284] |
Chr12:15516882 [GRCh38]
Chr12:15669816 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2044-8T>A |
single nucleotide variant |
not provided [RCV002610642] |
Chr12:15526134 [GRCh38]
Chr12:15679068 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2628-13T>A |
single nucleotide variant |
not provided [RCV002586473] |
Chr12:15560180 [GRCh38]
Chr12:15713114 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_030667.3(PTPRO):c.2279G>A (p.Gly760Asp) |
single nucleotide variant |
not provided [RCV003071240] |
Chr12:15546683 [GRCh38]
Chr12:15699617 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1961G>C (p.Gly654Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002722346] |
Chr12:15524883 [GRCh38]
Chr12:15677817 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1885A>G (p.Ile629Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002722708] |
Chr12:15520306 [GRCh38]
Chr12:15673240 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1631C>A (p.Thr544Lys) |
single nucleotide variant |
not provided [RCV002590209] |
Chr12:15516808 [GRCh38]
Chr12:15669742 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 |
copy number gain |
Pallister-Killian syndrome [RCV003154827] |
Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_030667.3(PTPRO):c.2083C>G (p.Pro695Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003218386] |
Chr12:15526181 [GRCh38]
Chr12:15679115 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.31G>A (p.Ala11Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003191527] |
Chr12:15322757 [GRCh38]
Chr12:15475691 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.1100G>A (p.Arg367Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003210368] |
Chr12:15502058 [GRCh38]
Chr12:15654992 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2750C>T (p.Pro917Leu) |
single nucleotide variant |
Nephrotic syndrome, type 6 [RCV003135164] |
Chr12:15569419 [GRCh38]
Chr12:15722353 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_030667.3(PTPRO):c.2580T>A (p.Phe860Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003196150] |
Chr12:15557476 [GRCh38]
Chr12:15710410 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
