ClinVar Miner

List of variants reported as uncertain significance for Pitt-Hopkins syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1157T>C (p.Ile386Thr) rs143594544 0.00003
NM_001083962.2(TCF4):c.1990G>A (p.Ala664Thr) rs755332116 0.00003
NM_001083962.2(TCF4):c.1154G>A (p.Arg385Gln) rs1420909531 0.00002
NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg) rs138570124 0.00002
NM_001083962.2(TCF4):c.1476C>A (p.Asp492Glu) rs1319622679 0.00002
NM_001083962.2(TCF4):c.347C>T (p.Ser116Leu) rs1239308094 0.00002
NM_001083962.2(TCF4):c.836C>T (p.Pro279Leu) rs772975240 0.00002
NM_001083962.2(TCF4):c.1036T>G (p.Ser346Ala) rs2057694590 0.00001
NM_001083962.2(TCF4):c.1105G>A (p.Ala369Thr) rs763311559 0.00001
NM_001083962.2(TCF4):c.1133C>G (p.Pro378Arg) rs1335926142 0.00001
NM_001083962.2(TCF4):c.1234C>T (p.Pro412Ser) rs748075595 0.00001
NM_001083962.2(TCF4):c.1237G>C (p.Gly413Arg) rs768214584 0.00001
NM_001083962.2(TCF4):c.1289T>G (p.Met430Arg) rs1272053360 0.00001
NM_001083962.2(TCF4):c.1291G>T (p.Gly431Cys) rs752176058 0.00001
NM_001083962.2(TCF4):c.1303T>A (p.Ser435Thr) rs1204988086 0.00001
NM_001083962.2(TCF4):c.1307G>C (p.Gly436Ala) rs758564063 0.00001
NM_001083962.2(TCF4):c.1331C>T (p.Ala444Val) rs761498822 0.00001
NM_001083962.2(TCF4):c.1413G>C (p.Gln471His) rs905111725 0.00001
NM_001083962.2(TCF4):c.1418C>T (p.Pro473Leu) rs1214980882 0.00001
NM_001083962.2(TCF4):c.1448C>G (p.Thr483Ser) rs773663759 0.00001
NM_001083962.2(TCF4):c.1598A>G (p.Lys533Arg) rs1568329915 0.00001
NM_001083962.2(TCF4):c.1660G>A (p.Asp554Asn) rs1283841605 0.00001
NM_001083962.2(TCF4):c.1951C>G (p.Pro651Ala) rs549600113 0.00001
NM_001083962.2(TCF4):c.2004G>A (p.Met668Ile) rs2511478327 0.00001
NM_001083962.2(TCF4):c.212A>G (p.Tyr71Cys) rs763349461 0.00001
NM_001083962.2(TCF4):c.242C>G (p.Thr81Ser) rs760934731 0.00001
NM_001083962.2(TCF4):c.280C>T (p.Pro94Ser) rs779916094 0.00001
NM_001083962.2(TCF4):c.369+4A>G rs1221205980 0.00001
NM_001083962.2(TCF4):c.370-3T>C rs778998689 0.00001
NM_001083962.2(TCF4):c.374G>A (p.Ser125Asn) rs1372478845 0.00001
NM_001083962.2(TCF4):c.481C>T (p.Leu161Phe) rs755353080 0.00001
NM_001083962.2(TCF4):c.487A>G (p.Ser163Gly) rs1474917865 0.00001
NM_001083962.2(TCF4):c.496A>G (p.Met166Val) rs1308681272 0.00001
NM_001083962.2(TCF4):c.584A>G (p.Asn195Ser) rs148573556 0.00001
NM_001083962.2(TCF4):c.604C>A (p.Pro202Thr) rs144835402 0.00001
NM_001083962.2(TCF4):c.633C>G (p.Phe211Leu) rs776969005 0.00001
NM_001083962.2(TCF4):c.649A>T (p.Met217Leu) rs768573052 0.00001
NM_001083962.2(TCF4):c.655+4A>T rs748830832 0.00001
NM_001083962.2(TCF4):c.659G>A (p.Gly220Asp) rs1480547602 0.00001
NM_001083962.2(TCF4):c.698T>C (p.Met233Thr) rs1391010086 0.00001
NM_001083962.2(TCF4):c.699G>A (p.Met233Ile) rs1233945994 0.00001
NM_001083962.2(TCF4):c.706C>G (p.Pro236Ala) rs139859596 0.00001
NM_001083962.2(TCF4):c.789G>A (p.Leu263=) rs2512663589 0.00001
NM_001083962.2(TCF4):c.797C>T (p.Pro266Leu) rs201776550 0.00001
NM_001083962.2(TCF4):c.844A>G (p.Thr282Ala) rs771784042 0.00001
NM_001083962.2(TCF4):c.851A>G (p.His284Arg) rs748555967 0.00001
NM_001083962.2(TCF4):c.854G>A (p.Arg285His) rs769123898 0.00001
NM_001083962.2(TCF4):c.865A>G (p.Asn289Asp) rs1182405539 0.00001
NM_001083962.2(TCF4):c.890C>T (p.Thr297Met) rs756279357 0.00001
NM_001083962.2(TCF4):c.904G>A (p.Gly302Arg) rs1341198543 0.00001
NM_001083962.2(TCF4):c.937G>A (p.Gly313Arg) rs767178395 0.00001
NM_001083962.2(TCF4):c.946G>A (p.Gly316Ser) rs993457884 0.00001
NC_000018.10:g.(?_55228205)_(55403734_?)dup
NC_000018.9:g.(?_52895436)_(53303148_?)dup
NC_000018.9:g.(?_52895456)_(53254347_?)dup
NM_001083962.2(TCF4):c.1013A>G (p.Asn338Ser) rs2512251010
NM_001083962.2(TCF4):c.1034C>T (p.Pro345Leu)
NM_001083962.2(TCF4):c.1057C>T (p.Pro353Ser) rs1284661237
NM_001083962.2(TCF4):c.1058C>T (p.Pro353Leu)
NM_001083962.2(TCF4):c.107G>A (p.Gly36Glu) rs2097629411
NM_001083962.2(TCF4):c.1099G>A (p.Gly367Arg) rs1324647610
NM_001083962.2(TCF4):c.1109C>T (p.Ser370Leu) rs1389107188
NM_001083962.2(TCF4):c.110C>T (p.Pro37Leu) rs2511886222
NM_001083962.2(TCF4):c.1138C>T (p.His380Tyr) rs1700284693
NM_001083962.2(TCF4):c.1140C>G (p.His380Gln)
NM_001083962.2(TCF4):c.1147-3C>G rs2056333687
NM_001083962.2(TCF4):c.1147-3C>T rs2056333687
NM_001083962.2(TCF4):c.1166G>A (p.Arg389His)
NM_001083962.2(TCF4):c.1176A>C (p.Arg392Ser)
NM_001083962.2(TCF4):c.1180G>C (p.Asp394His) rs1198693569
NM_001083962.2(TCF4):c.1201C>T (p.Arg401Trp) rs1337772395
NM_001083962.2(TCF4):c.1256A>G (p.His419Arg)
NM_001083962.2(TCF4):c.1267G>C (p.Gly423Arg) rs1555764202
NM_001083962.2(TCF4):c.1288A>G (p.Met430Val) rs2512109844
NM_001083962.2(TCF4):c.1294G>C (p.Gly432Arg) rs2145499073
NM_001083962.2(TCF4):c.1301G>A (p.Gly434Asp)
NM_001083962.2(TCF4):c.1330G>C (p.Ala444Pro) rs2145497511
NM_001083962.2(TCF4):c.1331C>G (p.Ala444Gly)
NM_001083962.2(TCF4):c.1351G>A (p.Val451Met) rs2048852348
NM_001083962.2(TCF4):c.1351G>C (p.Val451Leu) rs2048852348
NM_001083962.2(TCF4):c.1360C>T (p.His454Tyr) rs2511637142
NM_001083962.2(TCF4):c.1363C>T (p.Arg455Cys) rs1244450550
NM_001083962.2(TCF4):c.1364G>A (p.Arg455His)
NM_001083962.2(TCF4):c.136A>G (p.Thr46Ala) rs2097629150
NM_001083962.2(TCF4):c.1372G>A (p.Gly458Ser)
NM_001083962.2(TCF4):c.1406C>T (p.Pro469Leu) rs2144678172
NM_001083962.2(TCF4):c.1417C>G (p.Pro473Ala) rs2048837169
NM_001083962.2(TCF4):c.1417C>T (p.Pro473Ser) rs2048837169
NM_001083962.2(TCF4):c.1420G>C (p.Val474Leu) rs1274036446
NM_001083962.2(TCF4):c.145+3A>G rs2147847929
NM_001083962.2(TCF4):c.146-3T>G rs1341051748
NM_001083962.2(TCF4):c.1460T>C (p.Leu487Pro) rs2511633610
NM_001083962.2(TCF4):c.1487G>C (p.Gly496Ala) rs2144597295
NM_001083962.2(TCF4):c.1491G>A (p.Met497Ile)
NM_001083962.2(TCF4):c.1495C>G (p.Pro499Ala)
NM_001083962.2(TCF4):c.1495C>T (p.Pro499Ser) rs1395053525
NM_001083962.2(TCF4):c.1508G>T (p.Gly503Val) rs2511584373
NM_001083962.2(TCF4):c.1532C>G (p.Ser511Cys) rs1555718228
NM_001083962.2(TCF4):c.1583C>A (p.Ser528Tyr) rs1163623824
NM_001083962.2(TCF4):c.1609G>A (p.Asp537Asn) rs2048187425
NM_001083962.2(TCF4):c.160A>T (p.Ser54Cys) rs2095948260
NM_001083962.2(TCF4):c.1621A>T (p.Ile541Phe) rs2511580412
NM_001083962.2(TCF4):c.1623C>G (p.Ile541Met)
NM_001083962.2(TCF4):c.1650-10T>G rs2511501944
NM_001083962.2(TCF4):c.1650-7C>G rs1208323500
NM_001083962.2(TCF4):c.1665G>C (p.Glu555Asp) rs749911137
NM_001083962.2(TCF4):c.1694G>A (p.Arg565His) rs2511500439
NM_001083962.2(TCF4):c.1736T>C (p.Leu579Pro) rs2511498896
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys) rs2047109965
NM_001083962.2(TCF4):c.1756G>A (p.Glu586Lys) rs1555710544
NM_001083962.2(TCF4):c.1770G>T (p.Glu590Asp) rs2511498112
NM_001083962.2(TCF4):c.1778G>A (p.Arg593His) rs1041108937
NM_001083962.2(TCF4):c.1802G>T (p.Ser601Ile) rs2047098443
NM_001083962.2(TCF4):c.1806C>G (p.Asp602Glu) rs763359401
NM_001083962.2(TCF4):c.1810_1815del (p.Pro604_Gln605del)
NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile) rs2144403104
NM_001083962.2(TCF4):c.182A>G (p.Asn61Ser) rs1555672050
NM_001083962.2(TCF4):c.1831C>A (p.Leu611Ile) rs1555710107
NM_001083962.2(TCF4):c.1879G>C (p.Glu627Gln) rs1555709822
NM_001083962.2(TCF4):c.1929G>C (p.Glu643Asp) rs796053412
NM_001083962.2(TCF4):c.1952C>A (p.Pro651His) rs148802110
NM_001083962.2(TCF4):c.1952dup (p.Leu652fs) rs2144365111
NM_001083962.2(TCF4):c.196A>G (p.Ser66Gly) rs2095947647
NM_001083962.2(TCF4):c.1983G>A (p.Met661Ile)
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser) rs755332116
NM_001083962.2(TCF4):c.207G>A (p.Arg69=) rs759654604
NM_001083962.2(TCF4):c.215G>C (p.Gly72Ala) rs2513639035
NM_001083962.2(TCF4):c.220G>A (p.Gly74Arg) rs2095860701
NM_001083962.2(TCF4):c.224C>T (p.Thr75Ile) rs1603483692
NM_001083962.2(TCF4):c.235C>G (p.His79Asp) rs957698131
NM_001083962.2(TCF4):c.242C>A (p.Thr81Asn) rs760934731
NM_001083962.2(TCF4):c.253C>G (p.Leu85Val)
NM_001083962.2(TCF4):c.259T>C (p.Ser87Pro) rs2513637764
NM_001083962.2(TCF4):c.264T>A (p.His88Gln) rs2144778412
NM_001083962.2(TCF4):c.278C>T (p.Pro93Leu) rs1603483664
NM_001083962.2(TCF4):c.299T>A (p.Ile100Lys) rs2513636940
NM_001083962.2(TCF4):c.304A>C (p.Ser102Arg) rs780638244
NM_001083962.2(TCF4):c.305-3C>G rs2093938143
NM_001083962.2(TCF4):c.305G>A (p.Ser102Asn) rs796053413
NM_001083962.2(TCF4):c.31G>C (p.Gly11Arg) rs2511931715
NM_001083962.2(TCF4):c.320G>C (p.Gly107Ala) rs749677962
NM_001083962.2(TCF4):c.343G>C (p.Glu115Gln) rs867124521
NM_001083962.2(TCF4):c.350A>C (p.Asn117Thr) rs2093935698
NM_001083962.2(TCF4):c.358G>T (p.Gly120Cys) rs1603448353
NM_001083962.2(TCF4):c.359G>A (p.Gly120Asp) rs2512224925
NM_001083962.2(TCF4):c.35C>T (p.Thr12Met) rs2147880798
NM_001083962.2(TCF4):c.369+6_369+7del rs773484932
NM_001083962.2(TCF4):c.376C>T (p.Leu126Phe)
NM_001083962.2(TCF4):c.386G>A (p.Gly129Asp) rs2514752839
NM_001083962.2(TCF4):c.413C>G (p.Thr138Ser) rs796053416
NM_001083962.2(TCF4):c.452A>C (p.Tyr151Ser) rs2514750749
NM_001083962.2(TCF4):c.466C>T (p.Pro156Ser) rs200889338
NM_001083962.2(TCF4):c.476G>A (p.Arg159Lys) rs2144785394
NM_001083962.2(TCF4):c.478C>G (p.Pro160Ala) rs759957286
NM_001083962.2(TCF4):c.489T>A (p.Ser163Arg)
NM_001083962.2(TCF4):c.499+5_499+6dup rs2514749005
NM_001083962.2(TCF4):c.508A>G (p.Thr170Ala) rs796053417
NM_001083962.2(TCF4):c.509C>T (p.Thr170Ile) rs2514731450
NM_001083962.2(TCF4):c.513G>C (p.Lys171Asn) rs2082088013
NM_001083962.2(TCF4):c.529C>T (p.Pro177Ser) rs2144766710
NM_001083962.2(TCF4):c.549+1_549+2dup rs2082082408
NM_001083962.2(TCF4):c.554A>G (p.Tyr185Cys) rs1416409753
NM_001083962.2(TCF4):c.589G>A (p.Asp197Asn) rs762209412
NM_001083962.2(TCF4):c.602_610dup (p.Tyr201_Ser203dup) rs1568652980
NM_001083962.2(TCF4):c.604C>T (p.Pro202Ser) rs144835402
NM_001083962.2(TCF4):c.622A>G (p.Thr208Ala) rs1040642298
NM_001083962.2(TCF4):c.634C>T (p.Pro212Ser) rs1433071956
NM_001083962.2(TCF4):c.643T>G (p.Phe215Val) rs1170209002
NM_001083962.2(TCF4):c.649A>G (p.Met217Val) rs768573052
NM_001083962.2(TCF4):c.650T>C (p.Met217Thr) rs2146263735
NM_001083962.2(TCF4):c.691A>G (p.Ser231Gly) rs2061384063
NM_001083962.2(TCF4):c.695G>A (p.Gly232Glu) rs2061383201
NM_001083962.2(TCF4):c.701A>G (p.Asn234Ser) rs2146147095
NM_001083962.2(TCF4):c.710G>A (p.Gly237Asp) rs559539653
NM_001083962.2(TCF4):c.712T>C (p.Tyr238His) rs2146146536
NM_001083962.2(TCF4):c.715G>A (p.Ala239Thr) rs747361615
NM_001083962.2(TCF4):c.719G>C (p.Gly240Ala) rs758812309
NM_001083962.2(TCF4):c.721A>T (p.Met241Leu) rs2061374229
NM_001083962.2(TCF4):c.723G>A (p.Met241Ile) rs1418103880
NM_001083962.2(TCF4):c.73A>T (p.Met25Leu) rs2097629744
NM_001083962.2(TCF4):c.760T>C (p.Tyr254His) rs1601098241
NM_001083962.2(TCF4):c.776C>T (p.Pro259Leu) rs2512664294
NM_001083962.2(TCF4):c.781G>C (p.Glu261Gln) rs1555796693
NM_001083962.2(TCF4):c.790A>T (p.Ser264Cys) rs2512491883
NM_001083962.2(TCF4):c.802C>T (p.His268Tyr) rs1056402806
NM_001083962.2(TCF4):c.817A>G (p.Ile273Val) rs2059990935
NM_001083962.2(TCF4):c.823T>G (p.Ser275Ala) rs2059990078
NM_001083962.2(TCF4):c.830T>G (p.Leu277Arg)
NM_001083962.2(TCF4):c.839T>C (p.Met280Thr) rs1568580200
NM_001083962.2(TCF4):c.83C>T (p.Pro28Leu) rs2511886495
NM_001083962.2(TCF4):c.850C>T (p.His284Tyr) rs869312695
NM_001083962.2(TCF4):c.869A>G (p.His290Arg) rs2059981842
NM_001083962.2(TCF4):c.896C>T (p.Pro299Leu)
NM_001083962.2(TCF4):c.8A>G (p.His3Arg) rs2097656766
NM_001083962.2(TCF4):c.902A>G (p.Asn301Ser) rs1555789091
NM_001083962.2(TCF4):c.913A>G (p.Ser305Gly) rs2512488990
NM_001083962.2(TCF4):c.914G>A (p.Ser305Asn)
NM_001083962.2(TCF4):c.925A>G (p.Asn309Asp) rs1397255963
NM_001083962.2(TCF4):c.939_947del (p.Ala314_Gly316del) rs2058076417
NM_001083962.2(TCF4):c.941C>T (p.Ala314Val) rs2512295597
NM_001083962.2(TCF4):c.955C>A (p.Gln319Lys) rs2145729894
NM_001083962.2(TCF4):c.995A>G (p.Tyr332Cys) rs1568510320
NM_001083962.2(TCF4):c.9C>G (p.His3Gln) rs1361892226

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