ClinVar Miner

List of variants in gene TCF4 reported as likely pathogenic for Pitt-Hopkins syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1066_1067dup (p.Ala357fs) rs1555775233
NM_001083962.2(TCF4):c.1086G>A (p.Trp362Ter) rs398123560
NM_001083962.2(TCF4):c.1136dup (p.Leu379fs) rs1057519592
NM_001083962.2(TCF4):c.1147-255_1350+179del rs1600275237
NM_001083962.2(TCF4):c.1147-2A>G rs2145503668
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys) rs2145503179
NM_001083962.2(TCF4):c.1166G>T (p.Arg389Leu)
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer) rs1555764839
NM_001083962.2(TCF4):c.145+1G>A rs1555782724
NM_001083962.2(TCF4):c.1454_1455del (p.Pro485fs) rs2144676461
NM_001083962.2(TCF4):c.146-1G>A
NM_001083962.2(TCF4):c.1469C>G (p.Pro490Arg) rs1555722023
NM_001083962.2(TCF4):c.1485_1486dup (p.Gly496fs) rs2144675392
NM_001083962.2(TCF4):c.1486+1G>T rs2048816852
NM_001083962.2(TCF4):c.1486+5G>T rs2144674947
NM_001083962.2(TCF4):c.1486G>T (p.Gly496Cys) rs1599570613
NM_001083962.2(TCF4):c.1487-2A>G
NM_001083962.2(TCF4):c.1512_1513insTAGTCCAG (p.Ser505Ter) rs1555718354
NM_001083962.2(TCF4):c.1619A>G (p.Asp540Gly) rs1568329461
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)
NM_001083962.2(TCF4):c.1710G>C (p.Arg570Ser) rs1599377405
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001083962.2(TCF4):c.1727G>T (p.Arg576Leu) rs1057521070
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys) rs2144406630
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
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.1760C>T (p.Ala587Val) rs1555710523
NM_001083962.2(TCF4):c.1771C>T (p.Leu591Phe) rs2047107163
NM_001083962.2(TCF4):c.1772T>C (p.Leu591Pro) rs2047106597
NM_001083962.2(TCF4):c.178G>A (p.Gly60Arg) rs2144897134
NM_001083962.2(TCF4):c.1817_1828del (p.Thr606_Leu609del) rs1555710127
NM_001083962.2(TCF4):c.1826T>C (p.Leu609Pro) rs1057524821
NM_001083962.2(TCF4):c.1840G>C (p.Ala614Pro) rs587784462
NM_001083962.2(TCF4):c.1849G>T (p.Val617Phe) rs1568303086
NM_001083962.2(TCF4):c.1866G>C (p.Glu622Asp) rs140078086
NM_001083962.2(TCF4):c.1871A>C (p.Gln624Pro) rs797046034
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001083962.2(TCF4):c.1879+1G>A rs2144400328
NM_001083962.2(TCF4):c.1916_1917del (p.Arg639fs) rs1555708227
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) rs797046035
NM_001083962.2(TCF4):c.2010_2011del (p.Gln670fs) rs796053429
NM_001083962.2(TCF4):c.329C>T (p.Ser110Leu)
NM_001083962.2(TCF4):c.539del (p.Leu180fs) rs1603282307
NM_001083962.2(TCF4):c.550-12_550-2del rs2146265987
NM_001083962.2(TCF4):c.550-1G>A rs1601260508
NM_001083962.2(TCF4):c.550-2A>G rs863224934
NM_001083962.2(TCF4):c.560dup (p.Ser188fs) rs2146265828
NM_001083962.2(TCF4):c.655+1G>A rs587784465
NM_001083962.2(TCF4):c.655G>C (p.Asp219His)
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter) rs727504175
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg) rs1555796785
NM_001083962.2(TCF4):c.784_785insCA (p.Arg262fs)
NM_001083962.2(TCF4):c.975dup (p.Lys326fs)
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001083962.2(TCF4):c.991-1del rs2145681074
NM_001083962.2(TCF4):c.998C>T (p.Ser333Phe) rs2057699910

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.