List of variants in gene TCF4 reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 113

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HGVS	dbSNP	gnomAD frequency
NC_000018.10:g.(?_55234528)_(55234703_?)del
NC_000018.9:g.(?_52888562)_53256860del
NC_000018.9:g.(?_52895456)_(53254347_?)del
NC_000018.9:g.(?_52921708)_(53070769_?)del
NC_000018.9:g.(?_52921708)_(53254347_?)del
NC_000018.9:g.(?_52927160)_(53254347_?)del
NC_000018.9:g.(?_53017570)_(53070769_?)del
NC_000018.9:g.(?_53017570)_(53131388_?)del
NC_000018.9:g.(?_53017570)_(53254347_?)del
NC_000018.9:g.(?_53070665)_(53070769_?)del
NC_000018.9:g.(?_53128230)_(53131388_?)del
NM_001083962.2(TCF4):c.1034del (p.Pro345fs)	rs1568509890
NM_001083962.2(TCF4):c.1067C>A (p.Ser356Ter)	rs1600504872
NM_001083962.2(TCF4):c.1069+1052G>A
NM_001083962.2(TCF4):c.1069+1G>C
NM_001083962.2(TCF4):c.1069+1G>T	rs797045072
NM_001083962.2(TCF4):c.1086del (p.Trp362fs)	rs2145600541
NM_001083962.2(TCF4):c.1135_1138dup (p.His380fs)	rs2145598769
NM_001083962.2(TCF4):c.1144_1145insC (p.Leu382fs)
NM_001083962.2(TCF4):c.1146+1G>A	rs587784458
NM_001083962.2(TCF4):c.1146+3A>G	rs1568490874
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)	rs121909122
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys)	rs2145503179
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer)	rs1555764839
NM_001083962.2(TCF4):c.1171G>T (p.Glu391Ter)	rs1555764797
NM_001083962.2(TCF4):c.1203del (p.Asn402fs)	rs2056315077
NM_001083962.2(TCF4):c.1239_1246del (p.Gly416fs)
NM_001083962.2(TCF4):c.1249del (p.Asp417fs)	rs2145500473
NM_001083962.2(TCF4):c.1292del (p.Gly431fs)	rs1568471940
NM_001083962.2(TCF4):c.1328C>G (p.Ser443Ter)	rs1600285757
NM_001083962.2(TCF4):c.1337_1340del (p.Arg446fs)
NM_001083962.2(TCF4):c.1411C>T (p.Gln471Ter)	rs797046033
NM_001083962.2(TCF4):c.1422del (p.Pro475fs)
NM_001083962.2(TCF4):c.1424dup (p.Gln476fs)
NM_001083962.2(TCF4):c.1438C>T (p.Gln480Ter)	rs727505396
NM_001083962.2(TCF4):c.1481_1482insAA (p.Tyr494Ter)	rs2048818361
NM_001083962.2(TCF4):c.1486+1G>T	rs2048816852
NM_001083962.2(TCF4):c.1486+2T>G	rs1555721921
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser)	rs1599570613
NM_001083962.2(TCF4):c.1498G>T (p.Gly500Ter)	rs587784459
NM_001083962.2(TCF4):c.1504C>T (p.Gln502Ter)	rs1555718410
NM_001083962.2(TCF4):c.1504del (p.Gln502fs)	rs1555718426
NM_001083962.2(TCF4):c.1505dup (p.Gln504fs)	rs2144596313
NM_001083962.2(TCF4):c.1527del (p.Ser510fs)	rs1568331766
NM_001083962.2(TCF4):c.1552G>T (p.Glu518Ter)	rs1555718063
NM_001083962.2(TCF4):c.1557del (p.Asp520fs)	rs1555717982
NM_001083962.2(TCF4):c.1570C>T (p.Gln524Ter)	rs796053418
NM_001083962.2(TCF4):c.1585del (p.Ser529fs)
NM_001083962.2(TCF4):c.1650-2A>G	rs1555711245
NM_001083962.2(TCF4):c.1681del (p.Gln561fs)	rs2047128609
NM_001083962.2(TCF4):c.1699_1701del (p.Lys567del)	rs2144408449
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)
NM_001083962.2(TCF4):c.1706G>A (p.Arg569Gln)
NM_001083962.2(TCF4):c.1719_1722dup (p.Ala575fs)	rs1057518848
NM_001083962.2(TCF4):c.1720A>G (p.Asn574Asp)	rs2047119736
NM_001083962.2(TCF4):c.1721A>G (p.Asn574Ser)	rs796053430
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)	rs1555710726
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln)	rs1057521070
NM_001083962.2(TCF4):c.1730A>G (p.Glu577Gly)
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys)	rs2144406630
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)	rs121909123
NM_001083962.2(TCF4):c.1733G>C (p.Arg578Pro)	rs121909123
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)	rs121909120
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)	rs121909121
NM_001083962.2(TCF4):c.1739G>T (p.Arg580Leu)
NM_001083962.2(TCF4):c.1745G>C (p.Arg582Pro)
NM_001083962.2(TCF4):c.1777del (p.Arg593fs)	rs2047103931
NM_001083962.2(TCF4):c.1813C>T (p.Gln605Ter)	rs1555710223
NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile)	rs2144403104
NM_001083962.2(TCF4):c.1834del (p.His612fs)	rs1555710069
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val)	rs1568303352
NM_001083962.2(TCF4):c.1867C>T (p.Gln623Ter)
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter)	rs1131691735
NM_001083962.2(TCF4):c.188del (p.Gly63fs)	rs2144896799
NM_001083962.2(TCF4):c.1957_1958del (p.Ser653fs)	rs1135401807
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs)	rs797046035
NM_001083962.2(TCF4):c.294del (p.Arg99fs)	rs1603483654
NM_001083962.2(TCF4):c.306_307del (p.Ser102fs)
NM_001083962.2(TCF4):c.327C>A (p.Tyr109Ter)	rs1418586166
NM_001083962.2(TCF4):c.415del (p.Leu139fs)	rs587784463
NM_001083962.2(TCF4):c.41_62del (p.Lys14fs)
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter)	rs587784464
NM_001083962.2(TCF4):c.469del (p.Arg157fs)	rs1569138023
NM_001083962.2(TCF4):c.500-1G>A	rs1057518864
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs)	rs398123561
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter)	rs878853149
NM_001083962.2(TCF4):c.555T>A (p.Tyr185Ter)
NM_001083962.2(TCF4):c.622_628dup (p.Thr210fs)	rs2146264329
NM_001083962.2(TCF4):c.637_639delinsCTTCATGCAACCAGCACTT (p.Ser213fs)	rs2062114611
NM_001083962.2(TCF4):c.652C>T (p.Gln218Ter)	rs1064796853
NM_001083962.2(TCF4):c.655+1G>A	rs587784465
NM_001083962.2(TCF4):c.655+1G>T	rs587784465
NM_001083962.2(TCF4):c.655+1_655+2dup	rs797046036
NM_001083962.2(TCF4):c.656-1G>C	rs587784466
NM_001083962.2(TCF4):c.670del (p.Ser224fs)	rs2146148271
NM_001083962.2(TCF4):c.677del (p.Pro226fs)	rs2146147977
NM_001083962.2(TCF4):c.696del (p.Gly232_Met233insTer)	rs1568622225
NM_001083962.2(TCF4):c.710_711insT (p.Tyr238fs)
NM_001083962.2(TCF4):c.717del (p.Gly240fs)	rs2061376825
NM_001083962.2(TCF4):c.740dup (p.His247fs)	rs1568620774
NM_001083962.2(TCF4):c.742_743del (p.Ile248fs)	rs1568620706
NM_001083962.2(TCF4):c.762del (p.Cys255fs)	rs2061366129
NM_001083962.2(TCF4):c.770dup (p.His258fs)	rs2146144310
NM_001083962.2(TCF4):c.923-1G>A
NM_001083962.2(TCF4):c.923-2A>G	rs1600578193
NM_001083962.2(TCF4):c.937_941del (p.Gly313fs)	rs1568523662
NM_001083962.2(TCF4):c.968C>T (p.Ala323Val)	rs797045003
NM_001083962.2(TCF4):c.978delinsGG (p.Ala327fs)	rs863223404
NM_001083962.2(TCF4):c.990+1G>T	rs2145729217
NM_001083962.2(TCF4):c.990G>A (p.Ser330=)	rs587784469
NM_001083962.2(TCF4):c.991-2A>G	rs587784470
NM_001083962.2:c.304+24622_369+779del
NM_001243226.3(TCF4):c.286+1G>A

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