NM_016341.4(PLCE1):c.1400C>T (p.Thr467Ile) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001105569]|not specified [RCV000517387] |
Chr10:94132367 [GRCh38] Chr10:95892124 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.6853_6855GAG[1] (p.Glu2286del) |
microsatellite |
not specified [RCV000517610] |
Chr10:94325022..94325024 [GRCh38] Chr10:96084779..96084781 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1146del (p.Ser383fs) |
deletion |
Nephrotic syndrome, type 3 [RCV000002435] |
Chr10:94032192 [GRCh38] Chr10:95791949 [GRCh37] Chr10:10q23.33 |
pathogenic |
NM_016341.4(PLCE1):c.3846del (p.Leu1283fs) |
deletion |
Nephrotic syndrome, type 3 [RCV000002438] |
Chr10:94262522 [GRCh38] Chr10:96022279 [GRCh37] Chr10:10q23.33 |
pathogenic |
NM_016341.4(PLCE1):c.5764del (p.Glu1922fs) |
deletion |
not provided [RCV000722696] |
Chr10:94306568 [GRCh38] Chr10:96066325 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5172del (p.Cys1725fs) |
deletion |
not provided [RCV000722362] |
Chr10:94298382 [GRCh38] Chr10:96058139 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1477C>T (p.Arg493Ter) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000002436] |
Chr10:94132444 [GRCh38] Chr10:95892201 [GRCh37] Chr10:10q23.33 |
pathogenic |
NM_016341.4(PLCE1):c.3346C>T (p.Arg1116Ter) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000002437] |
Chr10:94254256 [GRCh38] Chr10:96014013 [GRCh37] Chr10:10q23.33 |
pathogenic |
NM_016341.4(PLCE1):c.4846C>T (p.Gln1616Ter) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000002439] |
Chr10:94283840 [GRCh38] Chr10:96043597 [GRCh37] Chr10:10q23.33 |
pathogenic |
NM_016341.4(PLCE1):c.5560C>T (p.Gln1854Ter) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000002440] |
Chr10:94304583 [GRCh38] Chr10:96064340 [GRCh37] Chr10:10q23.33 |
pathogenic |
NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000002441] |
Chr10:94270547 [GRCh38] Chr10:96030304 [GRCh37] Chr10:10q23.33 |
pathogenic |
NM_016341.4(PLCE1):c.6448C>T (p.Arg2150Ter) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000002442] |
Chr10:94322006 [GRCh38] Chr10:96081763 [GRCh37] Chr10:10q23.33 |
pathogenic |
NM_016341.4(PLCE1):c.961C>T (p.Arg321Ter) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000002443] |
Chr10:94032007 [GRCh38] Chr10:95791764 [GRCh37] Chr10:10q23.33 |
pathogenic |
NM_016341.4(PLCE1):c.3736C>T (p.Arg1246Ter) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000002444] |
Chr10:94259072 [GRCh38] Chr10:96018829 [GRCh37] Chr10:10q23.33 |
pathogenic |
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 |
copy number loss |
See cases [RCV000052564] |
Chr10:92626680..97755102 [GRCh38] Chr10:94386437..99514859 [GRCh37] Chr10:94376417..99504849 [NCBI36] Chr10:10q23.33-24.2 |
pathogenic |
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 |
copy number loss |
See cases [RCV000052565] |
Chr10:93181201..101356779 [GRCh38] Chr10:94940958..103116536 [GRCh37] Chr10:94930948..103106526 [NCBI36] Chr10:10q23.33-24.32 |
pathogenic |
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] |
Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3 |
pathogenic |
NM_016341.3(PLCE1):c.252G>A (p.Glu84=) |
single nucleotide variant |
Malignant melanoma [RCV000069086] |
Chr10:94031298 [GRCh38] Chr10:95791055 [GRCh37] Chr10:95781045 [NCBI36] Chr10:10q23.33 |
not provided |
NM_016341.3(PLCE1):c.3896C>T (p.Ser1299Phe) |
single nucleotide variant |
Malignant melanoma [RCV000069087] |
Chr10:94262575 [GRCh38] Chr10:96022332 [GRCh37] Chr10:96012322 [NCBI36] Chr10:10q23.33 |
not provided |
NM_016341.3(PLCE1):c.5200G>A (p.Glu1734Lys) |
single nucleotide variant |
Malignant melanoma [RCV000069088] |
Chr10:94298411 [GRCh38] Chr10:96058168 [GRCh37] Chr10:96048158 [NCBI36] Chr10:10q23.33 |
not provided |
NM_016341.3(PLCE1):c.5885G>A (p.Gly1962Glu) |
single nucleotide variant |
Malignant melanoma [RCV000069089] |
Chr10:94308581 [GRCh38] Chr10:96068338 [GRCh37] Chr10:96058328 [NCBI36] Chr10:10q23.33 |
not provided |
NM_016341.3(PLCE1):c.-365+2292G>T |
single nucleotide variant |
Lung cancer [RCV000109483] |
Chr10:93996550 [GRCh38] Chr10:95756307 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.3(PLCE1):c.1206+31794A>G |
single nucleotide variant |
Lung cancer [RCV000109485] |
Chr10:94064046 [GRCh38] Chr10:95823803 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.3(PLCE1):c.1809+9389A>G |
single nucleotide variant |
Lung cancer [RCV000109486] |
Chr10:94180885 [GRCh38] Chr10:95940642 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5549G>A (p.Cys1850Tyr) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000256376] |
Chr10:94304572 [GRCh38] Chr10:96064329 [GRCh37] Chr10:10q23.33 |
uncertain significance |
GRCh38/hg38 10q23.33(chr10:94298267-95267990)x1 |
copy number loss |
See cases [RCV000134773] |
Chr10:94298267..95267990 [GRCh38] Chr10:96058024..97027747 [GRCh37] Chr10:96048014..97017737 [NCBI36] Chr10:10q23.33 |
uncertain significance |
GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1 |
copy number loss |
See cases [RCV000137919] |
Chr10:92643919..95471137 [GRCh38] Chr10:94403676..97230894 [GRCh37] Chr10:94393656..97220884 [NCBI36] Chr10:10q23.33-24.1 |
pathogenic |
NM_016341.4(PLCE1):c.4935G>A (p.Leu1645=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000313710]|not provided [RCV000264882] |
Chr10:94284865 [GRCh38] Chr10:96044622 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5669C>T (p.Pro1890Leu) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000323870]|not provided [RCV000968188]|not specified [RCV000253540] |
Chr10:94306473 [GRCh38] Chr10:96066230 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.6771G>A (p.Lys2257=) |
single nucleotide variant |
not specified [RCV000241574] |
Chr10:94324942 [GRCh38] Chr10:96084699 [GRCh37] Chr10:10q23.33 |
likely benign |
NM_016341.4(PLCE1):c.3132C>T (p.His1044=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000302643]|not specified [RCV000251373] |
Chr10:94252351 [GRCh38] Chr10:96012108 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.227C>T (p.Ala76Val) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001105466]|not provided [RCV000908925]|not specified [RCV000246633] |
Chr10:94031273 [GRCh38] Chr10:95791030 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.6342+13G>A |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000287754]|not specified [RCV000246653] |
Chr10:94316769 [GRCh38] Chr10:96076526 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.2076A>T (p.Thr692=) |
single nucleotide variant |
not provided [RCV000900368]|not specified [RCV000251676] |
Chr10:94234174 [GRCh38] Chr10:95993931 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.513G>A (p.Val171=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000265853]|not provided [RCV000710173]|not specified [RCV000254009] |
Chr10:94031559 [GRCh38] Chr10:95791316 [GRCh37] Chr10:10q23.33 |
benign|likely benign|uncertain significance |
NM_016341.4(PLCE1):c.6324C>G (p.Val2108=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000384353]|not specified [RCV000241871] |
Chr10:94316738 [GRCh38] Chr10:96076495 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.4902T>C (p.Ala1634=) |
single nucleotide variant |
not specified [RCV000244476] |
Chr10:94283896 [GRCh38] Chr10:96043653 [GRCh37] Chr10:10q23.33 |
likely benign |
NM_016341.4(PLCE1):c.1729G>A (p.Ala577Thr) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000388334]|not specified [RCV000246926] |
Chr10:94171416 [GRCh38] Chr10:95931173 [GRCh37] Chr10:10q23.33 |
benign|uncertain significance |
NM_016341.4(PLCE1):c.5035+12C>A |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000610993]|not specified [RCV000249246] |
Chr10:94284977 [GRCh38] Chr10:96044734 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.1643G>T (p.Arg548Leu) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000616298]|not provided [RCV000712689]|not specified [RCV000242119] |
Chr10:94171330 [GRCh38] Chr10:95931087 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000605019]|not specified [RCV000254331] |
Chr10:94279840 [GRCh38] Chr10:96039597 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000318155]|not provided [RCV000959883]|not specified [RCV000244796] |
Chr10:94265652 [GRCh38] Chr10:96025409 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.4263G>A (p.Ser1421=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000280064]|not provided [RCV000712694]|not specified [RCV000249556] |
Chr10:94265940 [GRCh38] Chr10:96025697 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.651A>G (p.Val217=) |
single nucleotide variant |
not specified [RCV000249798] |
Chr10:94031697 [GRCh38] Chr10:95791454 [GRCh37] Chr10:10q23.33 |
likely benign |
NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000605587]|not specified [RCV000250112] |
Chr10:94306584 [GRCh38] Chr10:96066341 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.5670G>A (p.Pro1890=) |
single nucleotide variant |
not specified [RCV000245334] |
Chr10:94306474 [GRCh38] Chr10:96066231 [GRCh37] Chr10:10q23.33 |
likely benign |
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000302907]|not provided [RCV000710172]|not specified [RCV000250368] |
Chr10:94132372 [GRCh38] Chr10:95892129 [GRCh37] Chr10:10q23.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_016341.4(PLCE1):c.960G>A (p.Glu320=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000610433]|not provided [RCV000712698]|not specified [RCV000252737] |
Chr10:94032006 [GRCh38] Chr10:95791763 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.5330C>T (p.Thr1777Ile) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000616997]|not specified [RCV000245651] |
Chr10:94298541 [GRCh38] Chr10:96058298 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.810T>C (p.Cys270=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000602125]|not provided [RCV000712697]|not specified [RCV000247976] |
Chr10:94031856 [GRCh38] Chr10:95791613 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.5458+7G>A |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000266326]|not specified [RCV000250395] |
Chr10:94298676 [GRCh38] Chr10:96058433 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.2124G>A (p.Val708=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000293995]|not specified [RCV000243452] |
Chr10:94234222 [GRCh38] Chr10:95993979 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.6481G>A (p.Ala2161Thr) |
single nucleotide variant |
not specified [RCV000516839] |
Chr10:94322039 [GRCh38] Chr10:96081796 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4412G>A (p.Arg1471His) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000283512] |
Chr10:94270508 [GRCh38] Chr10:96030265 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.664G>C (p.Gly222Arg) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000344043] |
Chr10:94031710 [GRCh38] Chr10:95791467 [GRCh37] Chr10:10q23.33 |
benign|uncertain significance |
NM_016341.4(PLCE1):c.4810G>T (p.Asp1604Tyr) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000344250] |
Chr10:94283804 [GRCh38] Chr10:96043561 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.2598G>C (p.Thr866=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000394874] |
Chr10:94246123 [GRCh38] Chr10:96005880 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.-287G>A |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000346006] |
Chr10:94030760 [GRCh38] Chr10:95790517 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.3279+12T>C |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000370348] |
Chr10:94252510 [GRCh38] Chr10:96012267 [GRCh37] Chr10:10q23.33 |
benign|uncertain significance |
NM_016341.4(PLCE1):c.-525T>C |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000286008] |
Chr10:93994098 [GRCh38] Chr10:95753855 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.4341G>A (p.Met1447Ile) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000323390] |
Chr10:94268988 [GRCh38] Chr10:96028745 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.441G>A (p.Lys147=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000324524] |
Chr10:94031487 [GRCh38] Chr10:95791244 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.*166G>C |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000398900] |
Chr10:94328109 [GRCh38] Chr10:96087866 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.2635C>T (p.Arg879Cys) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000287364] |
Chr10:94246160 [GRCh38] Chr10:96005917 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.*268T>C |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000304926] |
Chr10:94328211 [GRCh38] Chr10:96087968 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.1290G>A (p.Glu430=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000399913] |
Chr10:94132257 [GRCh38] Chr10:95892014 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.*253C>T |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000400272] |
Chr10:94328196 [GRCh38] Chr10:96087953 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.-165T>C |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000306232] |
Chr10:94030882 [GRCh38] Chr10:95790639 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000327511]|not provided [RCV000514699] |
Chr10:94171182 [GRCh38] Chr10:95930939 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.2323C>T (p.Arg775Trp) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000375481] |
Chr10:94236023 [GRCh38] Chr10:95995780 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1461T>C (p.Phe487=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000272428] |
Chr10:94132428 [GRCh38] Chr10:95892185 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.642A>T (p.Gly214=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000289110] |
Chr10:94031688 [GRCh38] Chr10:95791445 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5840C>T (p.Ala1947Val) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000327449] |
Chr10:94306644 [GRCh38] Chr10:96066401 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.6364G>A (p.Val2122Ile) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000351419] |
Chr10:94321922 [GRCh38] Chr10:96081679 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.-160G>A |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000351779] |
Chr10:94030887 [GRCh38] Chr10:95790644 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.2214+7C>T |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000330308] |
Chr10:94234319 [GRCh38] Chr10:95994076 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4733A>T (p.Asn1578Ile) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000291719] |
Chr10:94279849 [GRCh38] Chr10:96039606 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3579C>T (p.His1193=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000330844] |
Chr10:94258824 [GRCh38] Chr10:96018581 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.296C>T (p.Ala99Val) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000354406] |
Chr10:94031342 [GRCh38] Chr10:95791099 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4341G>C (p.Met1447Ile) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000380300] |
Chr10:94268988 [GRCh38] Chr10:96028745 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.-537G>A |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000380634] |
Chr10:93994086 [GRCh38] Chr10:95753843 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3281G>C (p.Gly1094Ala) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000275815] |
Chr10:94254191 [GRCh38] Chr10:96013948 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.-351T>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000292045] |
Chr10:94030696 [GRCh38] Chr10:95790453 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5168-6G>T |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000355722]|not provided [RCV000980371] |
Chr10:94298373 [GRCh38] Chr10:96058130 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.*28A>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000292908] |
Chr10:94327971 [GRCh38] Chr10:96087728 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.-54G>T |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000312241] |
Chr10:94030993 [GRCh38] Chr10:95790750 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1698T>A (p.Pro566=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000333895] |
Chr10:94171385 [GRCh38] Chr10:95931142 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5139A>T (p.Thr1713=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000312625] |
Chr10:94293611 [GRCh38] Chr10:96053368 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.*220T>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000334988] |
Chr10:94328163 [GRCh38] Chr10:96087920 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.633C>T (p.Asp211=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000384773] |
Chr10:94031679 [GRCh38] Chr10:95791436 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3183C>T (p.Pro1061=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000407932]|not provided [RCV000712692] |
Chr10:94252402 [GRCh38] Chr10:96012159 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.3990C>T (p.Asn1330=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000262951] |
Chr10:94262669 [GRCh38] Chr10:96022426 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.2428A>G (p.Ile810Val) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000336531]|not provided [RCV000884580] |
Chr10:94245953 [GRCh38] Chr10:96005710 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.1090A>G (p.Ile364Val) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000337057] |
Chr10:94032136 [GRCh38] Chr10:95791893 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1383A>G (p.Ser461=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000360972] |
Chr10:94132350 [GRCh38] Chr10:95892107 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.72G>A (p.Ser24=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000263017] |
Chr10:94031118 [GRCh38] Chr10:95790875 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5175T>C (p.Cys1725=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000263203] |
Chr10:94298386 [GRCh38] Chr10:96058143 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1313T>C (p.Val438Ala) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000296944] |
Chr10:94132280 [GRCh38] Chr10:95892037 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.5313G>T (p.Arg1771Ser) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000297333] |
Chr10:94298524 [GRCh38] Chr10:96058281 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.2352C>T (p.Asp784=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000281063]|not provided [RCV000712690] |
Chr10:94236052 [GRCh38] Chr10:95995809 [GRCh37] Chr10:10q23.33 |
benign|likely benign |
NM_016341.4(PLCE1):c.-558A>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000316756] |
Chr10:93994065 [GRCh38] Chr10:95753822 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000364133]|not provided [RCV000948377] |
Chr10:94171254 [GRCh38] Chr10:95931011 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.6720+10A>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000389626] |
Chr10:94324577 [GRCh38] Chr10:96084334 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.2770G>A (p.Gly924Ser) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000390276] |
Chr10:94246295 [GRCh38] Chr10:96006052 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000265307]|not provided [RCV000712695] |
Chr10:94306586 [GRCh38] Chr10:96066343 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.227C>A (p.Ala76Glu) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000299500] |
Chr10:94031273 [GRCh38] Chr10:95791030 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000342370]|not provided [RCV000959882]|not specified [RCV000734018] |
Chr10:94246253 [GRCh38] Chr10:96006010 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.-135G>A |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000391110] |
Chr10:94030912 [GRCh38] Chr10:95790669 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.*219C>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000300956] |
Chr10:94328162 [GRCh38] Chr10:96087919 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3133G>T (p.Ala1045Ser) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000366664] |
Chr10:94252352 [GRCh38] Chr10:96012109 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.-47A>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000367028] |
Chr10:94031000 [GRCh38] Chr10:95790757 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.1389G>A (p.Ser463=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000393553] |
Chr10:94132356 [GRCh38] Chr10:95892113 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4452G>A (p.Ser1484=) |
single nucleotide variant |
not provided [RCV000304538] |
Chr10:94270548 [GRCh38] Chr10:96030305 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.323A>G (p.Asn108Ser) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000260001] |
Chr10:94031369 [GRCh38] Chr10:95791126 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.-616_-615dup |
duplication |
Nephrotic syndrome [RCV000261431] |
Chr10:93994006..93994007 [GRCh38] Chr10:95753763..95753764 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.6518A>G (p.Lys2173Arg) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001104207]|not provided [RCV000490198] |
Chr10:94324365 [GRCh38] Chr10:96084122 [GRCh37] Chr10:10q23.33 |
benign|uncertain significance |
NM_016341.4(PLCE1):c.6081_6082delinsCG (p.Thr2028Ala) |
indel |
not provided [RCV000722964] |
Chr10:94313331..94313332 [GRCh38] Chr10:96073088..96073089 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.6016_6018GAA[1] (p.Glu2007del) |
microsatellite |
not provided [RCV000722980] |
Chr10:94313265..94313267 [GRCh38] Chr10:96073022..96073024 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.*390A>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000361987] |
Chr10:94328333 [GRCh38] Chr10:96088090 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.950G>A (p.Ser317Asn) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000398446] |
Chr10:94031996 [GRCh38] Chr10:95791753 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.-226del |
deletion |
Nephrotic syndrome [RCV000400159] |
Chr10:94030820 [GRCh38] Chr10:95790577 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4924G>A (p.Asp1642Asn) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000400675] |
Chr10:94284854 [GRCh38] Chr10:96044611 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5099T>C (p.Ile1700Thr) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000401505] |
Chr10:94293571 [GRCh38] Chr10:96053328 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3876G>A (p.Ser1292=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000366936] |
Chr10:94262555 [GRCh38] Chr10:96022312 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3279+4G>T |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000306311] |
Chr10:94252502 [GRCh38] Chr10:96012259 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.724A>C (p.Lys242Gln) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000295057] |
Chr10:94031770 [GRCh38] Chr10:95791527 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.*116T>C |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000350209] |
Chr10:94328059 [GRCh38] Chr10:96087816 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.576A>C (p.Glu192Asp) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000320844] |
Chr10:94031622 [GRCh38] Chr10:95791379 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.699T>C (p.Tyr233=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000389346] |
Chr10:94031745 [GRCh38] Chr10:95791502 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4165G>A (p.Glu1389Lys) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000372815] |
Chr10:94265842 [GRCh38] Chr10:96025599 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4447A>G (p.Ile1483Val) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000340765] |
Chr10:94270543 [GRCh38] Chr10:96030300 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.-468A>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000340992] |
Chr10:93994155 [GRCh38] Chr10:95753912 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1421C>T (p.Thr474Ile) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000357669] |
Chr10:94132388 [GRCh38] Chr10:95892145 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.-433G>T |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000377011] |
Chr10:93994190 [GRCh38] Chr10:95753947 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4586A>T (p.Asp1529Val) |
single nucleotide variant |
not provided [RCV000519966] |
Chr10:94273641 [GRCh38] Chr10:96033398 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.459A>G (p.Gln153=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000379064] |
Chr10:94031505 [GRCh38] Chr10:95791262 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001108876]|not provided [RCV000891403]|not specified [RCV000516190] |
Chr10:94227423 [GRCh38] Chr10:95987180 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
NM_016341.4(PLCE1):c.5890C>T (p.Arg1964Ter) |
single nucleotide variant |
not provided [RCV000592054] |
Chr10:94308586 [GRCh38] Chr10:96068343 [GRCh37] Chr10:10q23.33 |
pathogenic |
NM_016341.4(PLCE1):c.4724G>A (p.Arg1575Gln) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001105758]|not provided [RCV000594173] |
Chr10:94279840 [GRCh38] Chr10:96039597 [GRCh37] Chr10:10q23.33 |
uncertain significance |
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)x1 |
copy number loss |
See cases [RCV000447362] |
Chr10:92667881..98970384 [GRCh37] Chr10:10q23.31-24.1 |
pathogenic |
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 |
copy number loss |
PARP Inhibitor response [RCV000431909] |
Chr10:85557432..105804295 [GRCh37] Chr10:10q23.1-25.1 |
pathogenic|drug response |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 |
copy number gain |
See cases [RCV000510972] |
Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1 |
copy number loss |
See cases [RCV000511278] |
Chr10:93186527..95820286 [GRCh37] Chr10:10q23.32-23.33 |
pathogenic |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
PARP Inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 |
copy number loss |
See cases [RCV000512315] |
Chr10:93908171..101809723 [GRCh37] Chr10:10q23.32-24.2 |
pathogenic |
NM_016341.4(PLCE1):c.2960A>G (p.His987Arg) |
single nucleotide variant |
not provided [RCV000681907] |
Chr10:94246485 [GRCh38] Chr10:96006242 [GRCh37] Chr10:10q23.33 |
likely pathogenic |
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 |
copy number gain |
not provided [RCV000683291] |
Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
NM_016341.4(PLCE1):c.2786G>C (p.Ser929Thr) |
single nucleotide variant |
not provided [RCV000712691] |
Chr10:94246311 [GRCh38] Chr10:96006068 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.599C>T (p.Thr200Ile) |
single nucleotide variant |
not provided [RCV000712696] |
Chr10:94031645 [GRCh38] Chr10:95791402 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1201T>C (p.Tyr401His) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103626]|not provided [RCV000712688] |
Chr10:94032247 [GRCh38] Chr10:95792004 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3518C>T (p.Ser1173Phe) |
single nucleotide variant |
not provided [RCV000712693] |
Chr10:94255013 [GRCh38] Chr10:96014770 [GRCh37] Chr10:10q23.33 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_016341.4(PLCE1):c.2995T>C (p.Phe999Leu) |
single nucleotide variant |
not provided [RCV000992631] |
Chr10:94246520 [GRCh38] Chr10:96006277 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4733A>G (p.Asn1578Ser) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001105759]|not provided [RCV000947271] |
Chr10:94279849 [GRCh38] Chr10:96039606 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.5778C>T (p.Phe1926=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001107546]|not provided [RCV000901251] |
Chr10:94306582 [GRCh38] Chr10:96066339 [GRCh37] Chr10:10q23.33 |
benign|uncertain significance |
NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001105670]|not provided [RCV000948378] |
Chr10:94246524 [GRCh38] Chr10:96006281 [GRCh37] Chr10:10q23.33 |
likely benign|uncertain significance |
GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175) |
copy number loss |
not provided [RCV000767566] |
Chr10:94393383..97219175 [GRCh37] Chr10:10q23.33-24.1 |
likely pathogenic |
NM_016341.4(PLCE1):c.6377_6378del (p.Lys2126fs) |
deletion |
Nephrotic syndrome, type 3 [RCV000778294] |
Chr10:94321934..94321935 [GRCh38] Chr10:96081691..96081692 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1228G>A (p.Glu410Lys) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103627]|not provided [RCV000896139] |
Chr10:94132195 [GRCh38] Chr10:95891952 [GRCh37] Chr10:10q23.33 |
likely benign |
NM_016341.4(PLCE1):c.4888G>A (p.Ala1630Thr) |
single nucleotide variant |
not provided [RCV000980308] |
Chr10:94283882 [GRCh38] Chr10:96043639 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000786899] |
Chr10:94132190 [GRCh38] Chr10:95891947 [GRCh37] Chr10:10q23.33 |
likely pathogenic|uncertain significance |
NM_016341.4(PLCE1):c.3058C>T (p.Gln1020Ter) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000985026] |
Chr10:94246583 [GRCh38] Chr10:96006340 [GRCh37] Chr10:10q23.33 |
pathogenic |
NM_016341.4(PLCE1):c.3698T>C (p.Leu1233Pro) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000988437] |
Chr10:94259034 [GRCh38] Chr10:96018791 [GRCh37] Chr10:10q23.33 |
likely pathogenic |
NM_016341.4(PLCE1):c.4974_4977CAGA[1] (p.Gln1660fs) |
microsatellite |
Nephrotic syndrome, type 3 [RCV000785963] |
Chr10:94284904..94284907 [GRCh38] Chr10:96044661..96044664 [GRCh37] Chr10:10q23.33 |
likely pathogenic |
NM_016341.4(PLCE1):c.3065G>A (p.Trp1022Ter) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000790391] |
Chr10:94246590 [GRCh38] Chr10:96006347 [GRCh37] Chr10:10q23.33 |
pathogenic |
GRCh37/hg19 10q23.33(chr10:96018893-96371928)x3 |
copy number gain |
not provided [RCV001006348] |
Chr10:96018893..96371928 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5559T>G (p.Tyr1853Ter) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000991397] |
Chr10:94304582 [GRCh38] Chr10:96064339 [GRCh37] Chr10:10q23.33 |
likely pathogenic |
NM_016341.4(PLCE1):c.-246A>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103529] |
Chr10:94030801 [GRCh38] Chr10:95790558 [GRCh37] Chr10:10q23.33 |
benign |
NM_016341.4(PLCE1):c.-48C>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103531] |
Chr10:94030999 [GRCh38] Chr10:95790756 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.-640C>T |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106504] |
Chr10:93993983 [GRCh38] Chr10:95753740 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1642C>T (p.Arg548Cys) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106712] |
Chr10:94171329 [GRCh38] Chr10:95931086 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3335A>G (p.His1112Arg) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106796] |
Chr10:94254245 [GRCh38] Chr10:96014002 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.6691T>C (p.Phe2231Leu) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001104208] |
Chr10:94324538 [GRCh38] Chr10:96084295 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.-459G>A |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001108690] |
Chr10:93994164 [GRCh38] Chr10:95753921 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001108877]|not provided [RCV001288671] |
Chr10:94234130 [GRCh38] Chr10:95993887 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3184G>A (p.Gly1062Arg) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001105672] |
Chr10:94252403 [GRCh38] Chr10:96012160 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3215A>G (p.Asn1072Ser) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001105673] |
Chr10:94252434 [GRCh38] Chr10:96012191 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1185G>A (p.Leu395=) |
single nucleotide variant |
not provided [RCV000928986] |
Chr10:94032231 [GRCh38] Chr10:95791988 [GRCh37] Chr10:10q23.33 |
likely benign |
NM_016341.4(PLCE1):c.673A>G (p.Lys225Glu) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106614] |
Chr10:94031719 [GRCh38] Chr10:95791476 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1807G>A (p.Glu603Lys) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106713] |
Chr10:94171494 [GRCh38] Chr10:95931251 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1927G>A (p.Ala643Thr) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106714] |
Chr10:94227423 [GRCh38] Chr10:95987180 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.*232A>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106984] |
Chr10:94328175 [GRCh38] Chr10:96087932 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3594C>T (p.Gly1198=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001107432] |
Chr10:94258839 [GRCh38] Chr10:96018596 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3980T>G (p.Leu1327Arg) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001107436] |
Chr10:94262659 [GRCh38] Chr10:96022416 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4050C>T (p.Ile1350=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001107437] |
Chr10:94262729 [GRCh38] Chr10:96022486 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5607A>G (p.Ala1869=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001107545] |
Chr10:94304630 [GRCh38] Chr10:96064387 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV000984912] |
Chr10:94324928 [GRCh38] Chr10:96084685 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5210C>T (p.Ser1737Phe) |
single nucleotide variant |
not provided [RCV000912809] |
Chr10:94298421 [GRCh38] Chr10:96058178 [GRCh37] Chr10:10q23.33 |
likely benign |
NM_016341.4(PLCE1):c.5979T>C (p.Ser1993=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103928] |
Chr10:94308675 [GRCh38] Chr10:96068432 [GRCh37] Chr10:10q23.33 |
likely benign |
NM_016341.4(PLCE1):c.-63C>T |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103530] |
Chr10:94030984 [GRCh38] Chr10:95790741 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.6310A>C (p.Met2104Leu) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103930] |
Chr10:94316724 [GRCh38] Chr10:96076481 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.174C>T (p.Asn58=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001105465] |
Chr10:94031220 [GRCh38] Chr10:95790977 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1496G>A (p.Arg499His) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001105570] |
Chr10:94171183 [GRCh38] Chr10:95930940 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4507-10T>A |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001105757] |
Chr10:94273552 [GRCh38] Chr10:96033309 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.2864C>G (p.Thr955Ser) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001105669] |
Chr10:94246389 [GRCh38] Chr10:96006146 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3098A>C (p.Glu1033Ala) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001105671] |
Chr10:94252317 [GRCh38] Chr10:96012074 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3583C>T (p.Arg1195Trp) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106798] |
Chr10:94258828 [GRCh38] Chr10:96018585 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5035+6A>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106875] |
Chr10:94284971 [GRCh38] Chr10:96044728 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.-257G>T |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001108691] |
Chr10:94030790 [GRCh38] Chr10:95790547 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.634G>A (p.Asp212Asn) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106613] |
Chr10:94031680 [GRCh38] Chr10:95791437 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1569C>T (p.Ile523=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106711] |
Chr10:94171256 [GRCh38] Chr10:95931013 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3281G>T (p.Gly1094Val) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106795] |
Chr10:94254191 [GRCh38] Chr10:96013948 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5274G>A (p.Ser1758=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001107544] |
Chr10:94298485 [GRCh38] Chr10:96058242 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.756G>T (p.Gln252His) |
single nucleotide variant |
Glomerulonephritis (disease) [RCV001195710] |
Chr10:94031802 [GRCh38] Chr10:95791559 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1180C>T (p.Arg394Cys) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103624] |
Chr10:94032226 [GRCh38] Chr10:95791983 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.2827G>T (p.Ala943Ser) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103722] |
Chr10:94246352 [GRCh38] Chr10:96006109 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4435C>T (p.Leu1479=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103813] |
Chr10:94270531 [GRCh38] Chr10:96030288 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.6155T>A (p.Ile2052Asn) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103929] |
Chr10:94316569 [GRCh38] Chr10:96076326 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3814+13T>G |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001107434] |
Chr10:94259163 [GRCh38] Chr10:96018920 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.713T>C (p.Met238Thr) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001108774] |
Chr10:94031759 [GRCh38] Chr10:95791516 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1081T>C (p.Trp361Arg) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001108777] |
Chr10:94032127 [GRCh38] Chr10:95791884 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.2157C>T (p.Gly719=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001108878] |
Chr10:94234255 [GRCh38] Chr10:95994012 [GRCh37] Chr10:10q23.33 |
likely benign |
NM_016341.4(PLCE1):c.2184G>A (p.Pro728=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001108880] |
Chr10:94234282 [GRCh38] Chr10:95994039 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.1193C>G (p.Ala398Gly) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103625] |
Chr10:94032239 [GRCh38] Chr10:95791996 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.4127A>T (p.Asp1376Val) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103812] |
Chr10:94265804 [GRCh38] Chr10:96025561 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.6446C>T (p.Pro2149Leu) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001104206] |
Chr10:94322004 [GRCh38] Chr10:96081761 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.*5G>C |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001104209] |
Chr10:94325085 [GRCh38] Chr10:96084842 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3449A>G (p.His1150Arg) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106797] |
Chr10:94254944 [GRCh38] Chr10:96014701 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.5168-6G>C |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106876] |
Chr10:94298373 [GRCh38] Chr10:96058130 [GRCh37] Chr10:10q23.33 |
likely benign |
NM_016341.4(PLCE1):c.*196A>C |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001106983] |
Chr10:94328139 [GRCh38] Chr10:96087896 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3719A>G (p.Tyr1240Cys) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001107433] |
Chr10:94259055 [GRCh38] Chr10:96018812 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.3930T>C (p.Asn1310=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001107435] |
Chr10:94262609 [GRCh38] Chr10:96022366 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.2842C>T (p.His948Tyr) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001103723] |
Chr10:94246367 [GRCh38] Chr10:96006124 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.748C>A (p.Gln250Lys) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001108775] |
Chr10:94031794 [GRCh38] Chr10:95791551 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.927T>C (p.Asp309=) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001108776] |
Chr10:94031973 [GRCh38] Chr10:95791730 [GRCh37] Chr10:10q23.33 |
uncertain significance |
NM_016341.4(PLCE1):c.2164G>A (p.Gly722Ser) |
single nucleotide variant |
Nephrotic syndrome, type 3 [RCV001108879] |
Chr10:94234262 [GRCh38] Chr10:95994019 [GRCh37] Chr10:10q23.33 |
uncertain significance |