"Ambry Genetics"[submitter] AND "TCF4"[gene] - ClinVar

Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2222601	NM_001083962.2(TCF4):c.2003T>G (p.Met668Arg)	TCF4 (M503R +21 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1047160	NM_001083962.2(TCF4):c.1951C>G (p.Pro651Ala)	TCF4 (P486A +21 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2288293	NM_001083962.2(TCF4):c.1942G>C (p.Glu648Gln)	TCF4 (E488Q +21 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 93544	NM_001083962.2(TCF4):c.1941A>G (p.Ser647=)	TCF4	Single nucleotide variant (synonymous variant)	Corneal dystrophy, Fuchs endothelial, 3 +4 more	GBenign
Select item 93543	NM_001083962.2(TCF4):c.1923G>A (p.Glu641=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome +3 more	GBenign/Likely benign
Select item 139411	NM_001083962.2(TCF4):c.1905G>A (p.Ala635=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome +3 more	GBenign/Likely benign
Select item 430016	NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter)	TCF4 (R626* +21 more)	Single nucleotide variant (nonsense)	Pitt-Hopkins syndrome +2 more	GPathogenic/Likely pathogenic
Select item 520759	NM_001083962.2(TCF4):c.1811_1822del (p.Pro604_Lys607del)	TCF4	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely pathogenic
Select item 985825	NM_001083962.2(TCF4):c.1816A>C (p.Thr606Pro)	TCF4 (T390P +21 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 520970	NM_001083962.2(TCF4):c.1772_1776delinsCT (p.Leu591_Gly592delinsPro)	TCF4	Indel (inframe_indel)	Inborn genetic diseases	GLikely pathogenic
Select item 7370	NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)	TCF4 (R576W +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GPathogenic FDA Recognized database
Select item 93542	NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)	TCF4 (R578H +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GPathogenic FDA Recognized database
Select item 381549	NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln)	TCF4 (R576Q +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GPathogenic FDA Recognized database
Select item 488988	NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)	TCF4 (R576* +21 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 949651	NM_001083962.2(TCF4):c.1720A>G (p.Asn574Asp)	TCF4 (N440D +21 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 207525	NM_001083962.2(TCF4):c.1704G>A (p.Glu568=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome +2 more	GBenign/Likely benign
Select item 589018	NM_001083962.2(TCF4):c.1683G>A (p.Gln561=)	TCF4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2267617	NM_001083962.2(TCF4):c.1628C>T (p.Ser543Leu)	TCF4 (S472L +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1588403	NM_001083962.2(TCF4):c.1608C>T (p.Asp536=)	TCF4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 589812	NM_001083962.2(TCF4):c.1598A>G (p.Lys533Arg)	TCF4 (K533R +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3175154	NM_001083962.2(TCF4):c.1551dup (p.Glu518fs)	TCF4 (E358fs +13 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 139409	NM_001083962.2(TCF4):c.1551C>T (p.Asp517=)	TCF4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 378716	NM_001083962.2(TCF4):c.1545C>T (p.Ser515=)	TCF4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1774424	NM_001083962.2(TCF4):c.1518CTC[1] (p.Ser508del)	TCF4 (S347del +13 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 235851	NM_001083962.2(TCF4):c.1487-5G>A	TCF4	Single nucleotide variant (intron variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 516726	NM_001083962.2(TCF4):c.1486+4G>C	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign FDA Recognized database
Select item 521953	NM_001083962.2(TCF4):c.1486+2T>C	TCF4	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3324967	NM_001083962.2(TCF4):c.1473G>C (p.Gln491His)	TCF4 (Q275H +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 93541	NM_001083962.2(TCF4):c.1419G>C (p.Pro473=)	TCF4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1573333	NM_001083962.2(TCF4):c.1412A>G (p.Gln471Arg)	TCF4 (Q255R +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1771689	NM_001083962.2(TCF4):c.1399_1403del (p.Leu467fs)	TCF4 (L251fs +13 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 852860	NM_001083962.2(TCF4):c.1349T>C (p.Met450Thr)	TCF4 (M320T +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome +1 more	GConflicting classifications of pathogenicity
Select item 520926	NM_001083962.2(TCF4):c.1304C>G (p.Ser435Ter)	TCF4 (S435* +13 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 139407	NM_001083962.2(TCF4):c.1299G>A (p.Leu433=)	TCF4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 574403	NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val)	TCF4 (G428V +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign FDA Recognized database
Select item 520568	NM_001083962.2(TCF4):c.1267_1268del (p.Gly423fs)	TCF4 (G263fs +13 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 194479	NM_001083962.2(TCF4):c.1245T>C (p.His415=)	TCF4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1375234	NM_001083962.2(TCF4):c.1180G>C (p.Asp394His)	TCF4 (D323H +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome +1 more	GUncertain significance
Select item 2504946	NM_001083962.2(TCF4):c.1145T>C (p.Leu382Ser)	TCF4 (L166S +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1731562	NM_001083962.2(TCF4):c.1142_1143del (p.Ser381fs)	TCF4 (S165fs +13 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1783155	NM_001083962.2(TCF4):c.1070-2A>G	TCF4	Single nucleotide variant (splice acceptor variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476430	NM_001083962.2(TCF4):c.1061C>G (p.Ser354Cys)	TCF4 (S194C +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1778723	NM_001083962.2(TCF4):c.1056T>C (p.Pro352=)	TCF4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 536805	NM_001083962.2(TCF4):c.1032C>T (p.Asn344=)	TCF4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1768596	NM_001083962.2(TCF4):c.991-1G>A	TCF4	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3175158	NM_001083962.2(TCF4):c.991-5T>A	TCF4	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 139406	NM_001083962.2(TCF4):c.966T>C (p.Asp322=)	TCF4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 160091	NM_001083962.2(TCF4):c.944C>T (p.Ala315Val)	TCF4 (A315V +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GBenign FDA Recognized database
Select item 139405	NM_001083962.2(TCF4):c.936C>T (p.Ser312=)	TCF4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 520842	NM_001083962.2(TCF4):c.931G>T (p.Gly311Ter)	TCF4 (G311* +11 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2240625	NM_001083962.2(TCF4):c.913A>G (p.Ser305Gly)	LOC126862757, TCF4 (S175G +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373746	NM_001083962.2(TCF4):c.706C>G (p.Pro236Ala)	TCF4 (P236A +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign FDA Recognized database
Select item 1756204	NM_001083962.2(TCF4):c.692G>A (p.Ser231Asn)	TCF4 (S15N +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520978	NM_001083962.2(TCF4):c.680G>A (p.Trp227Ter)	TCF4 (W227* +11 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 520783	NM_001083962.2(TCF4):c.673del (p.Asp225fs)	TCF4 (D65fs +11 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 700451	NM_001083962.2(TCF4):c.660C>T (p.Gly220=)	TCF4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 590129	NM_001083962.2(TCF4):c.649A>T (p.Met217Leu)	TCF4 (M217L +11 more)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins syndrome +2 more	GUncertain significance
Select item 588276	NM_001083962.2(TCF4):c.639C>T (p.Ser213=)	TCF4	Single nucleotide variant (synonymous variant +1 more)	Pitt-Hopkins syndrome +2 more	GBenign/Likely benign
Select item 3175157	NM_001083962.2(TCF4):c.633_634insAAAA (p.Pro212fs)	TCF4 (P187fs +10 more)	Insertion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 985822	NM_001083962.2(TCF4):c.624del (p.Ser209fs)	TCF4 (S138fs +10 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2533743	NM_001083962.2(TCF4):c.579C>G (p.Asp193Glu)	TCF4 (D122E +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1749134	NM_001083962.2(TCF4):c.569G>A (p.Ser190Asn)	TCF4 (S148N +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175156	NM_001083962.2(TCF4):c.505C>T (p.Gln169Ter)	TCF4 (Q127* +8 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 139404	NM_001083962.2(TCF4):c.504A>G (p.Val168=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GBenign FDA Recognized database
Select item 589268	NM_001083962.2(TCF4):c.469del (p.Arg157fs)	TCF4 (R157fs +8 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 664780	NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr)	TCF4 (P258T +8 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign FDA Recognized database
Select item 1741106	NM_001083962.2(TCF4):c.450G>A (p.Gln150=)	TCF4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1339619	NM_001083962.2(TCF4):c.421C>T (p.Pro141Ser)	TCF4 (P116S +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 207532	NM_001083962.2(TCF4):c.413C>G (p.Thr138Ser)	TCF4 (T138S +8 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign FDA Recognized database
Select item 1735806	NM_001083962.2(TCF4):c.387T>C (p.Gly129=)	TCF4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 167730	NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys)	TCF4 (R114K +5 more)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins syndrome +2 more	GConflicting classifications of pathogenicity
Select item 436962	NM_001083962.2(TCF4):c.330A>C (p.Ser110=)	TCF4	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 167731	NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser)	TCF4, TCF4-AS1 (N90S +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GBenign FDA Recognized database
Select item 1791142	NM_001083962.2(TCF4):c.242C>G (p.Thr81Ser)	TCF4, TCF4-AS1 (T183S +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance FDA Recognized database
Select item 3175155	NM_001083962.2(TCF4):c.237C>G (p.His79Gln)	TCF4, TCF4-AS1 (H181Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 160082	NM_001083962.2(TCF4):c.223A>G (p.Thr75Ala)	TCF4, TCF4-AS1 (T75A +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 2478184	NM_001083962.2(TCF4):c.119T>C (p.Leu40Ser)	TCF4 (L16S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1786106	NM_001083962.2(TCF4):c.107G>C (p.Gly36Ala)	TCF4 (G12A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1762821	NM_001083962.2(TCF4):c.82C>T (p.Pro28Ser)	TCF4 (P4S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 139415	NM_001083962.2(TCF4):c.73-3T>C	TCF4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign

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Items: 80