ClinVar Miner

List of variants reported as uncertain significance for Perlman syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 257
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HGVS dbSNP
NC_000002.12:g.(?_232163439)_(232163652_?)dup
NC_000002.12:g.(?_232163449)_(232163642_?)dup
NC_000002.12:g.(?_232163449)_(232336640_?)dup
NC_000002.12:g.(?_232163459)_(232163632_?)dup
NC_000002.12:g.(?_232329807)_(232333993_?)dup
NC_000002.12:g.(?_232333834)_(232336636_?)dup
NM_152383.4(DIS3L2):c.1033T>C (p.Ser345Pro) rs373488862
NM_152383.4(DIS3L2):c.1084A>G (p.Thr362Ala)
NM_152383.4(DIS3L2):c.1087A>G (p.Ile363Val) rs540563766
NM_152383.4(DIS3L2):c.1097A>C (p.Glu366Ala) rs765929142
NM_152383.4(DIS3L2):c.1115G>C (p.Arg372Thr) rs1553612391
NM_152383.4(DIS3L2):c.1125-6T>G rs764758535
NM_152383.4(DIS3L2):c.1126A>G (p.Lys376Glu)
NM_152383.4(DIS3L2):c.1135A>G (p.Ile379Val)
NM_152383.4(DIS3L2):c.1163G>A (p.Arg388Gln)
NM_152383.4(DIS3L2):c.1188C>T (p.Cys396=) rs145607185
NM_152383.4(DIS3L2):c.1192C>T (p.Pro398Ser)
NM_152383.4(DIS3L2):c.1198G>A (p.Ala400Thr) rs1342000775
NM_152383.4(DIS3L2):c.1204+4G>A rs1268142936
NM_152383.4(DIS3L2):c.1205-3C>T rs774283939
NM_152383.4(DIS3L2):c.1237G>A (p.Val413Met) rs1553539253
NM_152383.4(DIS3L2):c.1254G>A (p.Pro418=) rs764213505
NM_152383.4(DIS3L2):c.1258G>A (p.Gly420Arg) rs752118757
NM_152383.4(DIS3L2):c.1277T>G (p.Val426Gly) rs1553539258
NM_152383.4(DIS3L2):c.1285G>A (p.Glu429Lys) rs750852437
NM_152383.4(DIS3L2):c.128G>A (p.Arg43Gln) rs767837521
NM_152383.4(DIS3L2):c.1294A>G (p.Thr432Ala) rs1553539264
NM_152383.4(DIS3L2):c.1298G>A (p.Ser433Asn) rs1449339410
NM_152383.4(DIS3L2):c.1300G>A (p.Val434Ile) rs758366698
NM_152383.4(DIS3L2):c.1337G>T (p.Arg446Met) rs369290389
NM_152383.4(DIS3L2):c.1378G>A (p.Asp460Asn) rs776359062
NM_152383.4(DIS3L2):c.1385T>C (p.Leu462Pro) rs1415584731
NM_152383.4(DIS3L2):c.1390T>C (p.Phe464Leu) rs199879981
NM_152383.4(DIS3L2):c.1399A>T (p.Ile467Phe)
NM_152383.4(DIS3L2):c.1401C>G (p.Ile467Met) rs767658588
NM_152383.4(DIS3L2):c.1406C>T (p.Thr469Ile)
NM_152383.4(DIS3L2):c.1418A>G (p.Glu473Gly)
NM_152383.4(DIS3L2):c.141G>T (p.Lys47Asn) rs766516846
NM_152383.4(DIS3L2):c.1429C>T (p.Leu477Phe) rs1060503031
NM_152383.4(DIS3L2):c.1430T>G (p.Leu477Arg) rs201719374
NM_152383.4(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544
NM_152383.4(DIS3L2):c.1472A>G (p.Lys491Arg) rs776040852
NM_152383.4(DIS3L2):c.1483G>A (p.Glu495Lys) rs376140965
NM_152383.4(DIS3L2):c.1501A>T (p.Ile501Phe) rs1060503036
NM_152383.4(DIS3L2):c.1502T>C (p.Ile501Thr) rs1060503027
NM_152383.4(DIS3L2):c.1507A>T (p.Ser503Cys)
NM_152383.4(DIS3L2):c.1525C>T (p.Pro509Ser) rs191662777
NM_152383.4(DIS3L2):c.1529C>G (p.Ala510Gly)
NM_152383.4(DIS3L2):c.1540C>T (p.Pro514Ser) rs1463177673
NM_152383.4(DIS3L2):c.1544C>T (p.Pro515Leu) rs756176597
NM_152383.4(DIS3L2):c.1564A>G (p.Ser522Gly)
NM_152383.4(DIS3L2):c.1566C>T (p.Ser522=)
NM_152383.4(DIS3L2):c.1567G>A (p.Glu523Lys) rs745936781
NM_152383.4(DIS3L2):c.1585G>A (p.Val529Ile) rs773893129
NM_152383.4(DIS3L2):c.1597C>A (p.His533Asn)
NM_152383.4(DIS3L2):c.1600G>A (p.Gly534Arg) rs375517001
NM_152383.4(DIS3L2):c.1609A>G (p.Lys537Glu) rs954655897
NM_152383.4(DIS3L2):c.1618C>T (p.Arg540Cys) rs573031156
NM_152383.4(DIS3L2):c.1627C>T (p.Arg543Cys)
NM_152383.4(DIS3L2):c.1628G>A (p.Arg543His) rs1018058365
NM_152383.4(DIS3L2):c.1641C>T (p.Gly547=)
NM_152383.4(DIS3L2):c.1649G>A (p.Arg550His) rs566287761
NM_152383.4(DIS3L2):c.164C>A (p.Ser55Tyr)
NM_152383.4(DIS3L2):c.1656T>A (p.Asp552Glu) rs1553541570
NM_152383.4(DIS3L2):c.1659+5_1659+7delGTA
NM_152383.4(DIS3L2):c.1675A>C (p.Thr559Pro) rs755569735
NM_152383.4(DIS3L2):c.1684C>T (p.His562Tyr) rs748574652
NM_152383.4(DIS3L2):c.1693G>A (p.Gly565Arg) rs770702636
NM_152383.4(DIS3L2):c.1695A>T (p.Gly565=) rs961617765
NM_152383.4(DIS3L2):c.1703A>G (p.Gln568Arg) rs1296826867
NM_152383.4(DIS3L2):c.1712A>T (p.His571Leu) rs1438379709
NM_152383.4(DIS3L2):c.1721A>C (p.Glu574Ala) rs1553546491
NM_152383.4(DIS3L2):c.1721A>G (p.Glu574Gly) rs1553546491
NM_152383.4(DIS3L2):c.1722G>T (p.Glu574Asp) rs191608083
NM_152383.4(DIS3L2):c.1726C>T (p.Arg576Cys) rs374385308
NM_152383.4(DIS3L2):c.1727G>A (p.Arg576His) rs200386096
NM_152383.4(DIS3L2):c.1727_1728delGCinsCA (p.Arg576Pro) rs1553546498
NM_152383.4(DIS3L2):c.1728C>T (p.Arg576=) rs763819831
NM_152383.4(DIS3L2):c.1729G>A (p.Glu577Lys)
NM_152383.4(DIS3L2):c.172G>C (p.Asp58His) rs1000963300
NM_152383.4(DIS3L2):c.1740-3C>T rs1553550742
NM_152383.4(DIS3L2):c.1740G>T (p.Lys580Asn) rs555184370
NM_152383.4(DIS3L2):c.1748A>G (p.Glu583Gly)
NM_152383.4(DIS3L2):c.1756A>G (p.Met586Val) rs1224235194
NM_152383.4(DIS3L2):c.1769A>G (p.Asn590Ser) rs774192220
NM_152383.4(DIS3L2):c.1774G>T (p.Ala592Ser) rs183714146
NM_152383.4(DIS3L2):c.1775C>T (p.Ala592Val) rs753955550
NM_152383.4(DIS3L2):c.1795C>T (p.Arg599Cys) rs370448481
NM_152383.4(DIS3L2):c.1804C>G (p.Pro602Ala) rs1553550758
NM_152383.4(DIS3L2):c.1807G>A (p.Glu603Lys)
NM_152383.4(DIS3L2):c.1825C>T (p.Arg609Trp) rs370822831
NM_152383.4(DIS3L2):c.1826G>A (p.Arg609Gln) rs774228906
NM_152383.4(DIS3L2):c.1855A>G (p.Ser619Gly)
NM_152383.4(DIS3L2):c.1862T>C (p.Leu621Pro)
NM_152383.4(DIS3L2):c.1876G>A (p.Asp626Asn) rs374482102
NM_152383.4(DIS3L2):c.1894G>A (p.Val632Met) rs754433044
NM_152383.4(DIS3L2):c.1909G>A (p.Ala637Thr) rs543360422
NM_152383.4(DIS3L2):c.1913G>A (p.Gly638Glu)
NM_152383.4(DIS3L2):c.1915G>A (p.Ala639Thr) rs762363254
NM_152383.4(DIS3L2):c.1915G>C (p.Ala639Pro) rs762363254
NM_152383.4(DIS3L2):c.1922A>G (p.Asn641Ser) rs769948942
NM_152383.4(DIS3L2):c.1923+3G>A rs763148451
NM_152383.4(DIS3L2):c.1923T>C (p.Asn641=) rs775814377
NM_152383.4(DIS3L2):c.1924-3T>C rs768575329
NM_152383.4(DIS3L2):c.1945G>A (p.Gly649Arg) rs1274927583
NM_152383.4(DIS3L2):c.1954A>G (p.Lys652Glu) rs1553550922
NM_152383.4(DIS3L2):c.1969C>T (p.Arg657Cys) rs113330536
NM_152383.4(DIS3L2):c.1989C>A (p.Asn663Lys)
NM_152383.4(DIS3L2):c.1991T>A (p.Met664Lys) rs1553550935
NM_152383.4(DIS3L2):c.1994G>A (p.Cys665Tyr) rs778990530
NM_152383.4(DIS3L2):c.2000G>A (p.Arg667Gln) rs1060503034
NM_152383.4(DIS3L2):c.2005A>G (p.Met669Val) rs1553550940
NM_152383.4(DIS3L2):c.2011-4G>T rs767597086
NM_152383.4(DIS3L2):c.2011A>G (p.Met671Val) rs1553551554
NM_152383.4(DIS3L2):c.2013G>A (p.Met671Ile)
NM_152383.4(DIS3L2):c.2020T>C (p.Tyr674His)
NM_152383.4(DIS3L2):c.2030C>T (p.Ser677Leu) rs753558985
NM_152383.4(DIS3L2):c.2031G>A (p.Ser677=) rs370261055
NM_152383.4(DIS3L2):c.2036T>C (p.Leu679Pro) rs777508887
NM_152383.4(DIS3L2):c.2051C>T (p.Ala684Val)
NM_152383.4(DIS3L2):c.2059C>T (p.Arg687Trp) rs372762400
NM_152383.4(DIS3L2):c.2060G>A (p.Arg687Gln) rs749596505
NM_152383.4(DIS3L2):c.2065T>C (p.Tyr689His) rs1060503039
NM_152383.4(DIS3L2):c.2068G>A (p.Ala690Thr) rs916866725
NM_152383.4(DIS3L2):c.2076T>G (p.Asn692Lys) rs767082193
NM_152383.4(DIS3L2):c.2077G>A (p.Val693Met) rs1553551585
NM_152383.4(DIS3L2):c.2078T>C (p.Val693Ala)
NM_152383.4(DIS3L2):c.2080C>T (p.Pro694Ser) rs886055771
NM_152383.4(DIS3L2):c.210+10_210+17dupATCTACTG rs1553601267
NM_152383.4(DIS3L2):c.210G>C (p.Gln70His) rs1236280328
NM_152383.4(DIS3L2):c.2125G>C (p.Val709Leu) rs199537907
NM_152383.4(DIS3L2):c.2136C>A (p.His712Gln) rs566391334
NM_152383.4(DIS3L2):c.2137C>T (p.Arg713Cys)
NM_152383.4(DIS3L2):c.2152G>A (p.Ala718Thr)
NM_152383.4(DIS3L2):c.2162A>G (p.Tyr721Cys) rs371864654
NM_152383.4(DIS3L2):c.2167G>A (p.Glu723Lys)
NM_152383.4(DIS3L2):c.2171G>A (p.Arg724Gln)
NM_152383.4(DIS3L2):c.2179A>G (p.Met727Val) rs1060503030
NM_152383.4(DIS3L2):c.2181G>A (p.Met727Ile) rs1553551756
NM_152383.4(DIS3L2):c.2183C>T (p.Ala728Val) rs753952840
NM_152383.4(DIS3L2):c.2192C>A (p.Thr731Asn) rs1553551762
NM_152383.4(DIS3L2):c.2194C>G (p.Leu732Val) rs1215542783
NM_152383.4(DIS3L2):c.2204A>G (p.Gln735Arg) rs746574719
NM_152383.4(DIS3L2):c.2207C>T (p.Ala736Val) rs780625125
NM_152383.4(DIS3L2):c.2210A>G (p.Asp737Gly) rs769764733
NM_152383.4(DIS3L2):c.2212C>G (p.His738Asp) rs1553551779
NM_152383.4(DIS3L2):c.2227C>T (p.Arg743Cys) rs765865656
NM_152383.4(DIS3L2):c.2229C>T (p.Arg743=)
NM_152383.4(DIS3L2):c.222A>C (p.Arg74Ser) rs1553601861
NM_152383.4(DIS3L2):c.2233G>A (p.Ala745Thr) rs758837060
NM_152383.4(DIS3L2):c.2234C>T (p.Ala745Val)
NM_152383.4(DIS3L2):c.2242C>T (p.Arg748Cys) rs372560799
NM_152383.4(DIS3L2):c.2243_2248delGCGTGCinsACATGA (p.Arg748_Gln750delinsHisMetLys) rs1553551794
NM_152383.4(DIS3L2):c.2245G>A (p.Val749Met) rs755574750
NM_152383.4(DIS3L2):c.2254C>T (p.Leu752Phe)
NM_152383.4(DIS3L2):c.2266C>G (p.Leu756Val)
NM_152383.4(DIS3L2):c.2269T>C (p.Phe757Leu) rs1298748971
NM_152383.4(DIS3L2):c.2290-5delT rs1553551847
NM_152383.4(DIS3L2):c.2309C>T (p.Ser770Leu) rs1553551852
NM_152383.4(DIS3L2):c.2329A>G (p.Ile777Val) rs2697798
NM_152383.4(DIS3L2):c.2356G>A (p.Val786Met) rs569638131
NM_152383.4(DIS3L2):c.2356G>T (p.Val786Leu) rs569638131
NM_152383.4(DIS3L2):c.2363G>A (p.Arg788His)
NM_152383.4(DIS3L2):c.2368G>A (p.Gly790Ser)
NM_152383.4(DIS3L2):c.2371G>A (p.Val791Met) rs374080052
NM_152383.4(DIS3L2):c.2381G>A (p.Arg794His)
NM_152383.4(DIS3L2):c.2394C>T (p.Asn798=) rs773602107
NM_152383.4(DIS3L2):c.2401G>A (p.Ala801Thr) rs1359847466
NM_152383.4(DIS3L2):c.2407C>T (p.Arg803Trp) rs866926882
NM_152383.4(DIS3L2):c.2408G>A (p.Arg803Gln) rs764157950
NM_152383.4(DIS3L2):c.2417_2418delAC (p.His806Leufs)
NM_152383.4(DIS3L2):c.2421C>G (p.Phe807Leu) rs757128931
NM_152383.4(DIS3L2):c.2425A>C (p.Lys809Gln) rs1060503032
NM_152383.4(DIS3L2):c.2426A>G (p.Lys809Arg) rs775531488
NM_152383.4(DIS3L2):c.2428G>A (p.Val810Met) rs1553552092
NM_152383.4(DIS3L2):c.2450C>T (p.Thr817Met) rs376816858
NM_152383.4(DIS3L2):c.2485C>T (p.Pro829Ser) rs1275058351
NM_152383.4(DIS3L2):c.2503A>G (p.Thr835Ala) rs1060503035
NM_152383.4(DIS3L2):c.2504C>G (p.Thr835Ser)
NM_152383.4(DIS3L2):c.2551C>T (p.Leu851Phe) rs1060503033
NM_152383.4(DIS3L2):c.2560A>T (p.Ser854Cys) rs774490217
NM_152383.4(DIS3L2):c.2563G>A (p.Ala855Thr) rs547016377
NM_152383.4(DIS3L2):c.2576G>C (p.Arg859Pro) rs570999208
NM_152383.4(DIS3L2):c.2585C>T (p.Thr862Ile) rs778725551
NM_152383.4(DIS3L2):c.2588A>G (p.Gln863Arg) rs777191235
NM_152383.4(DIS3L2):c.2590G>A (p.Gly864Ser)
NM_152383.4(DIS3L2):c.2591G>A (p.Gly864Asp) rs746507960
NM_152383.4(DIS3L2):c.2593C>T (p.His865Tyr)
NM_152383.4(DIS3L2):c.2605G>A (p.Glu869Lys) rs369664231
NM_152383.4(DIS3L2):c.2608A>G (p.Lys870Glu) rs775252407
NM_152383.4(DIS3L2):c.2608_2610delAAG (p.Lys870del) rs779485524
NM_152383.4(DIS3L2):c.2620_2621invGA (p.Glu874Ser)
NM_152383.4(DIS3L2):c.2620_2622delGAG (p.Glu874del) rs745307654
NM_152383.4(DIS3L2):c.2620_2622dup (p.Glu874_Ser875insGlu)
NM_152383.4(DIS3L2):c.2629G>C (p.Gly877Arg)
NM_152383.4(DIS3L2):c.2638G>A (p.Glu880Lys)
NM_152383.4(DIS3L2):c.2649C>G (p.Ser883Arg) rs1553552367
NM_152383.4(DIS3L2):c.301G>T (p.Ala101Ser) rs199857926
NM_152383.4(DIS3L2):c.305G>A (p.Arg102His)
NM_152383.4(DIS3L2):c.305G>C (p.Arg102Pro) rs372013568
NM_152383.4(DIS3L2):c.31C>T (p.Arg11Trp)
NM_152383.4(DIS3L2):c.327T>A (p.Asp109Glu)
NM_152383.4(DIS3L2):c.33_34delGCinsAA (p.Pro12Thr)
NM_152383.4(DIS3L2):c.371T>C (p.Val124Ala)
NM_152383.4(DIS3L2):c.376C>T (p.Pro126Ser) rs1553606103
NM_152383.4(DIS3L2):c.407C>T (p.Ala136Val)
NM_152383.4(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073
NM_152383.4(DIS3L2):c.419A>G (p.Asp140Gly) rs367831290
NM_152383.4(DIS3L2):c.424C>A (p.Pro142Thr) rs878855227
NM_152383.4(DIS3L2):c.43A>G (p.Thr15Ala)
NM_152383.4(DIS3L2):c.461C>T (p.Ser154Phe)
NM_152383.4(DIS3L2):c.469A>G (p.Ser157Gly) rs1553606121
NM_152383.4(DIS3L2):c.484C>A (p.Pro162Thr) rs1478569468
NM_152383.4(DIS3L2):c.485C>T (p.Pro162Leu)
NM_152383.4(DIS3L2):c.491_514delTCATTGTAGAGGCTCAGTTTGATG (p.Val164_Asp171del) rs1553606124
NM_152383.4(DIS3L2):c.502G>T (p.Ala168Ser) rs1553606126
NM_152383.4(DIS3L2):c.524C>T (p.Ser175Leu)
NM_152383.4(DIS3L2):c.540C>T (p.Gly180=) rs369500890
NM_152383.4(DIS3L2):c.542T>C (p.Ile181Thr) rs1060503029
NM_152383.4(DIS3L2):c.563A>T (p.Asp188Val) rs1553606133
NM_152383.4(DIS3L2):c.565G>A (p.Gly189Ser) rs1553606137
NM_152383.4(DIS3L2):c.566G>C (p.Gly189Ala)
NM_152383.4(DIS3L2):c.566G>T (p.Gly189Val) rs755258805
NM_152383.4(DIS3L2):c.587G>A (p.Cys196Tyr)
NM_152383.4(DIS3L2):c.594T>A (p.Ser198=)
NM_152383.4(DIS3L2):c.607G>C (p.Glu203Gln)
NM_152383.4(DIS3L2):c.620C>T (p.Ala207Val) rs1553609835
NM_152383.4(DIS3L2):c.623C>A (p.Pro208Gln)
NM_152383.4(DIS3L2):c.623C>T (p.Pro208Leu) rs1022276697
NM_152383.4(DIS3L2):c.639G>T (p.Glu213Asp) rs1553609842
NM_152383.4(DIS3L2):c.64G>C (p.Val22Leu) rs183463487
NM_152383.4(DIS3L2):c.662C>G (p.Thr221Arg) rs201020526
NM_152383.4(DIS3L2):c.666A>C (p.Arg222Ser) rs751721861
NM_152383.4(DIS3L2):c.674C>T (p.Ser225Leu) rs201453807
NM_152383.4(DIS3L2):c.67G>C (p.Ala23Pro) rs886288172
NM_152383.4(DIS3L2):c.685C>G (p.Leu229Val) rs73003124
NM_152383.4(DIS3L2):c.690A>G (p.Gln230=)
NM_152383.4(DIS3L2):c.695C>T (p.Ser232Leu)
NM_152383.4(DIS3L2):c.742A>G (p.Thr248Ala)
NM_152383.4(DIS3L2):c.763G>A (p.Ala255Thr)
NM_152383.4(DIS3L2):c.777C>A (p.Ser259Arg)
NM_152383.4(DIS3L2):c.79G>C (p.Asp27His) rs780747005
NM_152383.4(DIS3L2):c.86G>A (p.Gly29Asp) rs369080386
NM_152383.4(DIS3L2):c.871G>A (p.Ala291Thr) rs753115829
NM_152383.4(DIS3L2):c.871G>C (p.Ala291Pro) rs753115829
NM_152383.4(DIS3L2):c.874C>T (p.Arg292Trp) rs182004457
NM_152383.4(DIS3L2):c.880A>G (p.Lys294Glu) rs570981537
NM_152383.4(DIS3L2):c.905T>A (p.Ile302Asn)
NM_152383.4(DIS3L2):c.910C>T (p.Arg304Cys) rs149157216
NM_152383.4(DIS3L2):c.919G>C (p.Asp307His) rs780127954
NM_152383.4(DIS3L2):c.928G>A (p.Glu310Lys)
NM_152383.4(DIS3L2):c.92C>T (p.Ser31Leu) rs901797759
NM_152383.4(DIS3L2):c.938A>G (p.Asn313Ser) rs768529345
NM_152383.4(DIS3L2):c.951-6C>G rs1322713450
NM_152383.4(DIS3L2):c.953A>G (p.Gln318Arg) rs1060503038
NM_152383.4(DIS3L2):c.964A>G (p.Ser322Gly)
NM_152383.4(DIS3L2):c.965G>T (p.Ser322Ile) rs1553612374

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