"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "TCF4"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 663412	NC_000018.9:g.(?_52895436)_(53303148_?)dup	LOC109609705, LOC110120867 +16 more	Duplication	Pitt-Hopkins syndrome	GUncertain significance
Select item 468945	NC_000018.10:g.(?_55228205)_(55635917_?)del	LOC130062540, LOC130062541 +16 more	Deletion	Pitt-Hopkins syndrome	GPathogenic
Select item 2789357	NM_001083962.2(TCF4):c.2015A>G (p.Ter672=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2119445	NM_001083962.2(TCF4):c.2004G>A (p.Met668Ile)	TCF4 (M534I +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 139412	NM_001083962.2(TCF4):c.1995G>A (p.Ser665=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome +1 more	GBenign/Likely benign
Select item 468954	NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser)	TCF4 (A664S +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome +1 more	GUncertain significance
Select item 207527	NM_001083962.2(TCF4):c.1990G>A (p.Ala664Thr)	TCF4 (A664T +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GBenignFDA Recognized database
Select item 669241	NM_001083962.2(TCF4):c.1989C>T (p.Asp663=)	TCF4	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2001238	NM_001083962.2(TCF4):c.1976C>T (p.Pro659Leu)	TCF4 (P525L +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1600730	NM_001083962.2(TCF4):c.1969C>G (p.Pro657Ala)	TCF4 (P441A +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GBenign
Select item 833780	NM_001083962.2(TCF4):c.1966G>A (p.Gly656Ser)	TCF4 (G526S +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 508461	NM_001083962.2(TCF4):c.1965C>T (p.Ala655=)	TCF4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2007552	NM_001083962.2(TCF4):c.1952dup (p.Leu652fs)	TCF4 (L487fs +21 more)	Duplication (frameshift variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 889419	NM_001083962.2(TCF4):c.1952C>A (p.Pro651His)	TCF4 (P487H +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2824393	NM_001083962.2(TCF4):c.1951C>A (p.Pro651Thr)	TCF4 (P521T +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign
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 1139580	NM_001083962.2(TCF4):c.1946C>T (p.Pro649Leu)	TCF4 (P433L +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1961594	NM_001083962.2(TCF4):c.1944G>A (p.Glu648=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
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 1148989	NM_001083962.2(TCF4):c.1905G>C (p.Ala635=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 139411	NM_001083962.2(TCF4):c.1905G>A (p.Ala635=)	TCF4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2150738	NM_001083962.2(TCF4):c.1896G>C (p.Pro632=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 512170	NM_001083962.2(TCF4):c.1887T>C (p.Asn629=)	TCF4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2063471	NM_001083962.2(TCF4):c.1880-6C>T	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1648712	NM_001083962.2(TCF4):c.1880-9C>A	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1629897	NM_001083962.2(TCF4):c.1880-13T>C	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1629353	NM_001083962.2(TCF4):c.1880-17G>T	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1951742	NM_001083962.2(TCF4):c.1879+10G>T	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 701302	NM_001083962.2(TCF4):c.1879+10G>C	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2881820	NM_001083962.2(TCF4):c.1879+4A>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1386251	NM_001083962.2(TCF4):c.1879G>C (p.Glu627Gln)	TCF4 (E467Q +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
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 2138157	NM_001083962.2(TCF4):c.1867C>T (p.Gln623Ter)	TCF4 (Q407* +21 more)	Single nucleotide variant (nonsense)	Pitt-Hopkins syndrome	GPathogenic
Select item 378717	NM_001083962.2(TCF4):c.1866G>A (p.Glu622=)	TCF4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2420442	NM_001083962.2(TCF4):c.1848C>A (p.Ala616=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 385368	NM_001083962.2(TCF4):c.1848C>T (p.Ala616=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome +1 more	GLikely benign
Select item 2157765	NM_001083962.2(TCF4):c.1842G>A (p.Ala614=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2143103	NM_001083962.2(TCF4):c.1842G>C (p.Ala614=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 581714	NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val)	TCF4 (A614V +21 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2712054	NM_001083962.2(TCF4):c.1833C>G (p.Leu611=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 468953	NM_001083962.2(TCF4):c.1831C>A (p.Leu611Ile)	TCF4 (L611I +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1164050	NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile)	TCF4 (T390I +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1051229	NM_001083962.2(TCF4):c.1806C>G (p.Asp602Glu)	TCF4 (D386E +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2085606	NM_001083962.2(TCF4):c.1802G>T (p.Ser601Ile)	TCF4 (S436I +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 3016155	NM_001083962.2(TCF4):c.1785G>A (p.Val595=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1005288	NM_001083962.2(TCF4):c.1778G>A (p.Arg593His)	TCF4 (R377H +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 862997	NM_001083962.2(TCF4):c.1777del (p.Arg593fs)	TCF4 (R377fs +21 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 854261	NM_001083962.2(TCF4):c.1772T>C (p.Leu591Pro)	TCF4 (L426P +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 1034603	NM_001083962.2(TCF4):c.1771C>T (p.Leu591Phe)	TCF4 (L375F +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 2838962	NM_001083962.2(TCF4):c.1770G>T (p.Glu590Asp)	TCF4 (E425D +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2730932	NM_001083962.2(TCF4):c.1756G>A (p.Glu586Lys)	TCF4 (E561K +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1003911	NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys)	TCF4 (R366C +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely pathogenicFDA Recognized database
Select item 160079	NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe)	TCF4 (V581F +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely pathogenicFDA Recognized database
Select item 2056884	NM_001083962.2(TCF4):c.1740G>C (p.Arg580=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 7371	NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)	TCF4 (R576Q +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GPathogenicFDA Recognized database
Select item 7370	NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)	TCF4 (R576W +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GPathogenicFDA Recognized database
Select item 2699156	NM_001083962.2(TCF4):c.1736T>C (p.Leu579Pro)	TCF4 (L445P +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1993962	NM_001083962.2(TCF4):c.1734T>C (p.Arg578=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 93542	NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)	TCF4 (R578H +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GPathogenicFDA Recognized database
Select item 1343925	NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys)	TCF4 (R362C +21 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1535173	NM_001083962.2(TCF4):c.1731G>A (p.Glu577=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2753556	NM_001083962.2(TCF4):c.1730A>G (p.Glu577Gly)	TCF4 (E417G +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 1470528	NM_001083962.2(TCF4):c.1727G>T (p.Arg576Leu)	TCF4 (R360L +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely pathogenic
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 1612582	NM_001083962.2(TCF4):c.1725C>T (p.Ala575=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 468952	NM_001083962.2(TCF4):c.1722T>C (p.Asn574=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
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 620020	NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)	TCF4 (R569W +21 more)	Single nucleotide variant (missense variant)	Corneal dystrophy, Fuchs endothelial, 3 +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 2835744	NM_001083962.2(TCF4):c.1694G>A (p.Arg565His)	TCF4 (R349H +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 936054	NM_001083962.2(TCF4):c.1681del (p.Gln561fs)	TCF4 (Q401fs +21 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 468951	NM_001083962.2(TCF4):c.1677A>G (p.Pro559=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1949444	NM_001083962.2(TCF4):c.1674A>C (p.Thr558=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1964475	NM_001083962.2(TCF4):c.1665G>C (p.Glu555Asp)	TCF4 (E421D +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2103397	NM_001083962.2(TCF4):c.1660G>A (p.Asp554Asn)	TCF4 (D389N +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1086561	NM_001083962.2(TCF4):c.1659C>T (p.Asp553=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1112723	NM_001083962.2(TCF4):c.1656T>C (p.Asn552=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1121623	NM_001083962.2(TCF4):c.1650-4A>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1077880	NM_001083962.2(TCF4):c.1650-6C>T	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2881722	NM_001083962.2(TCF4):c.1650-7C>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 577674	NM_001083962.2(TCF4):c.1650-9G>T	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2054183	NM_001083962.2(TCF4):c.1650-10T>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 139410	NM_001083962.2(TCF4):c.1650-14C>T	TCF4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2873743	NM_001083962.2(TCF4):c.1649+9A>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2815617	NM_001083962.2(TCF4):c.1621A>T (p.Ile541Phe)	TCF4 (I380F +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 943528	NM_001083962.2(TCF4):c.1619A>G (p.Asp540Gly)	TCF4 (D515G +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 1133449	NM_001083962.2(TCF4):c.1617G>A (p.Lys539=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 858921	NM_001083962.2(TCF4):c.1609G>A (p.Asp537Asn)	TCF4 (D376N +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1588403	NM_001083962.2(TCF4):c.1608C>T (p.Asp536=)	TCF4	Single nucleotide variant (synonymous variant)	not provided +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 833616	NM_001083962.2(TCF4):c.1594A>G (p.Lys532Glu)	TCF4 (K316E +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GBenign
Select item 2905544	NM_001083962.2(TCF4):c.1593C>T (p.Asp531=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome +1 more	GLikely benign
Select item 385572	NM_001083962.2(TCF4):c.1587G>A (p.Ser529=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome +1 more	GLikely benign
Select item 2769049	NM_001083962.2(TCF4):c.1585del (p.Ser529fs)	TCF4 (S369fs +13 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 2833743	NM_001083962.2(TCF4):c.1583C>A (p.Ser528Tyr)	TCF4 (S398Y +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 3002500	NM_001083962.2(TCF4):c.1578G>A (p.Thr526=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2118624	NM_001083962.2(TCF4):c.1578G>C (p.Thr526=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 515487	NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met)	TCF4 (T526M +13 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 207534	NM_001083962.2(TCF4):c.1570C>T (p.Gln524Ter)	TCF4 (Q524* +13 more)	Single nucleotide variant (nonsense)	Pitt-Hopkins syndrome +1 more	GPathogenic

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