Related gene-specific medical variations for Gene (Select 6925) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066000	NM_001083962.2(TCF4):c.831del (p.Pro278fs)	LOC126862757, TCF4 (P118fs +11 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 3065179	NM_001083962.2(TCF4):c.1534G>T (p.Glu512Ter)	TCF4 (E296* +13 more)	Single nucleotide variant (nonsense)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 3063552	GRCh37/hg19 18q21.2(chr18:52978878-53100587)x1	TCF4	Copy number loss	not specified	GPathogenic
Select item 3063548	GRCh37/hg19 18q21.2(chr18:52903599-53084300)x1	TCF4	Copy number loss	not specified	GPathogenic
Select item 3062372	GRCh37/hg19 18q21.2(chr18:53089162-53292031)x1	TCF4	Copy number loss	not specified	GPathogenic
Select item 3013491	NM_001083962.2(TCF4):c.160A>T (p.Ser54Cys)	TCF4-AS1, TCF4 (S12C +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2996306	NM_001083962.2(TCF4):c.263A>G (p.His88Arg)	TCF4, TCF4-AS1 (H88R +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2983854	NM_001083962.2(TCF4):c.201G>T (p.Pro67=)	TCF4, TCF4-AS1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2916498	NM_001083962.2(TCF4):c.304A>T (p.Ser102Cys)	TCF4, TCF4-AS1 (S102C +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2900433	NM_001083962.2(TCF4):c.817A>G (p.Ile273Val)	LOC126862757, TCF4 (I202V +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2900415	NM_001083962.2(TCF4):c.844A>G (p.Thr282Ala)	LOC126862757, TCF4 (T240A +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2887622	NM_001083962.2(TCF4):c.1363C>T (p.Arg455Cys)	LOC121627832, TCF4 (R413C +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2885933	NM_001083962.2(TCF4):c.180G>A (p.Gly60=)	TCF4, TCF4-AS1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2867284	NM_001083962.2(TCF4):c.1360C>T (p.His454Tyr)	LOC121627832, TCF4 (H293Y +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2863200	NM_001083962.2(TCF4):c.208-13A>G	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2851285	NM_001083962.2(TCF4):c.1356G>T (p.Gly452=)	LOC121627832, TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2846666	NM_001083962.2(TCF4):c.146-1G>A	TCF4, TCF4-AS1	Single nucleotide variant (splice acceptor variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 2824148	NM_001083962.2(TCF4):c.259T>C (p.Ser87Pro)	TCF4, TCF4-AS1 (S189P +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2766003	NM_001083962.2(TCF4):c.802C>T (p.His268Tyr)	LOC126862757, TCF4 (H243Y +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2757484	NM_001083962.2(TCF4):c.1351G>C (p.Val451Leu)	LOC121627832, TCF4 (V235L +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2726334	NM_001083962.2(TCF4):c.207+16C>A	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2718894	NM_001083962.2(TCF4):c.299T>A (p.Ile100Lys)	TCF4, TCF4-AS1 (I202K +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2718694	NM_001083962.2(TCF4):c.1351-10G>A	LOC121627832, TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2696350	NM_001083962.2(TCF4):c.922+12A>G	LOC126862757, TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2665084	NM_001083962.2(TCF4):c.1487-2A>G	TCF4	Single nucleotide variant (splice acceptor variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 2663154	NM_001083962.2(TCF4):c.304+1G>A	TCF4, TCF4-AS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2648737	NM_001083962.2(TCF4):c.305-18943A>G	LOC110120867, TCF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2581009	NM_001083962.2:c.304+24622_369+779del	TCF4	Deletion	Pitt-Hopkins syndrome	GPathogenic
Select item 2576080	NM_001083962.2(TCF4):c.655+54C>T	TCF4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2437023	NM_001083962.2(TCF4):c.1207_1208delinsAT (p.His403Ile)	TCF4 (H187I +13 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2437022	NM_001083962.2(TCF4):c.959C>T (p.Thr320Ile)	TCF4 (T104I +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434098	NM_001083962.2(TCF4):c.898del (p.Ala300fs)	LOC126862757, TCF4 (A140fs +11 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2430065	NM_001083962.2(TCF4):c.1499G>T (p.Gly500Val)	TCF4 (G284V +13 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2429817	NM_001083962.2(TCF4):c.1717A>G (p.Asn573Asp)	TCF4 (N357D +21 more)	Single nucleotide variant (missense variant)	Developmental disorder	GPathogenic
Select item 2421530	NM_001083962.2(TCF4):c.1370A>G (p.Asp457Gly)	LOC121627832, TCF4 (D241G +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2420519	NM_001083962.2(TCF4):c.291T>C (p.Asn97=)	TCF4, TCF4-AS1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2412760	NM_001083962.2(TCF4):c.840_841insGAGAAAG (p.Ser281fs)	LOC126862757, TCF4 (S210fs +11 more)	Insertion (frameshift variant)	Pitt-Hopkins syndrome	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 2198003	NM_001083962.2(TCF4):c.922+20A>G	LOC126862757, TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2181062	NM_001083962.2(TCF4):c.146-13C>T	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2122510	NM_001083962.2(TCF4):c.878C>A (p.Thr293Asn)	LOC126862757, TCF4 (T163N +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GBenign
Select item 2121661	NM_001083962.2(TCF4):c.854G>A (p.Arg285His)	LOC126862757, TCF4 (R214H +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2095964	NM_001083962.2(TCF4):c.189A>G (p.Gly63=)	TCF4, TCF4-AS1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2067482	NM_001083962.2(TCF4):c.146-11C>T	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2057463	NM_001083962.2(TCF4):c.798A>G (p.Pro266=)	LOC126862757, TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2041550	NM_001083962.2(TCF4):c.1351-10G>T	LOC121627832, TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2005866	NM_001083962.2(TCF4):c.790A>T (p.Ser264Cys)	LOC126862757, TCF4 (S104C +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1971056	NM_001083962.2(TCF4):c.207+8T>A	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1951189	NM_001083962.2(TCF4):c.196A>G (p.Ser66Gly)	TCF4, TCF4-AS1 (S64G +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1930940	NM_001083962.2(TCF4):c.215G>C (p.Gly72Ala)	TCF4, TCF4-AS1 (G30A +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1922283	NM_001083962.2(TCF4):c.1374C>T (p.Gly458=)	LOC121627832, TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1809777	NM_001083962.2(TCF4):c.879del (p.Ser294fs)	LOC126862757, TCF4 (S134fs +11 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 1806121	NM_001083962.2(TCF4):c.1356del (p.Thr453fs)	LOC121627832, TCF4 (T237fs +13 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
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 +1 more	GConflicting classifications of pathogenicity
Select item 1722852	NM_001083962.2(TCF4):c.146-6C>T	TCF4-AS1, TCF4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1722322	NM_001083962.2(TCF4):c.1166G>T (p.Arg389Leu)	TCF4 (R173L +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 1711453	NM_001083962.2(TCF4):c.922+1G>A	LOC126862757, TCF4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1709057	NM_001083962.2(TCF4):c.1351-1G>C	LOC121627832, TCF4	Single nucleotide variant (splice acceptor variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 1673075	NM_001083962.2(TCF4):c.900C>A (p.Ala300=)	LOC126862757, TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1660575	NM_001083962.2(TCF4):c.922+15del	LOC126862757, TCF4	Deletion (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1655050	NM_001083962.2(TCF4):c.186A>T (p.Gly62=)	TCF4, TCF4-AS1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1622827	NM_001083962.2(TCF4):c.208-16G>T	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1601385	NM_001083962.2(TCF4):c.790-17del	LOC126862757, TCF4	Deletion (intron variant)	Pitt-Hopkins syndrome	GBenign
Select item 1574297	NM_001083962.2(TCF4):c.304+13T>C	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1543998	NM_001083962.2(TCF4):c.146-20A>G	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1533071	NM_001083962.2(TCF4):c.837G>A (p.Pro279=)	LOC126862757, TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1531179	NM_001083962.2(TCF4):c.146-13C>G	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 1526626	GRCh37/hg19 18q21.2(chr18:53289889-53383013)	TCF4	Copy number loss	not specified	GLikely pathogenic
Select item 1526625	GRCh37/hg19 18q21.2(chr18:53277008-53428347)	TCF4	Copy number loss	not specified	GLikely pathogenic
Select item 1515261	NM_001083962.2(TCF4):c.790-1G>A	LOC126862757, TCF4	Single nucleotide variant (splice acceptor variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 1490538	NM_001083962.2(TCF4):c.207G>A (p.Arg69=)	TCF4, TCF4-AS1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1485528	NM_001083962.2(TCF4):c.178G>A (p.Gly60Arg)	TCF4, TCF4-AS1 (G36R +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 1480392	NM_001083962.2(TCF4):c.264T>A (p.His88Gln)	TCF4, TCF4-AS1 (H190Q +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1454032	NM_001083962.2(TCF4):c.887del (p.Cys296fs)	LOC126862757, TCF4 (C166fs +11 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 1412517	NM_001083962.2(TCF4):c.188del (p.Gly63fs)	TCF4, TCF4-AS1 (G165fs +4 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 1371877	NM_001083962.2(TCF4):c.246C>T (p.Ser82=)	TCF4, TCF4-AS1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GBenign
Select item 1348818	NM_001083962.2(TCF4):c.865A>G (p.Asn289Asp)	LOC126862757, TCF4 (N218D +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1342597	NM_001083962.2(TCF4):c.549+23042C>T	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1334774	NM_001083962.2(TCF4):c.667A>G (p.Ser223Gly)	TCF4 (S152G +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 1331336	NM_001083962.2(TCF4):c.235C>G (p.His79Asp)	TCF4, TCF4-AS1 (H181D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1326873	Single allele	TCF4	Deletion	Intellectual disability, mild	GPathogenic
Select item 1325180	NM_001083962.2(TCF4):c.755del (p.Ser252fs)	TCF4 (S122fs +11 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1325179	NM_001083962.2(TCF4):c.1481dup (p.Tyr494Ter)	TCF4 (Y278* +13 more)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 1319339	NM_001083962.2(TCF4):c.715G>C (p.Ala239Pro)	TCF4 (A109P +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312388	NM_001083962.2(TCF4):c.245G>A (p.Ser82Asn)	TCF4, TCF4-AS1 (S184N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1290941	NM_001083962.2(TCF4):c.146-120G>T	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286311	NM_001083962.2(TCF4):c.207+73TC[14]	TCF4, TCF4-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1266619	NM_001083962.2(TCF4):c.208-122C>A	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263422	NM_001083962.2(TCF4):c.207+98CA[18]	TCF4, TCF4-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1262314	NM_001083962.2(TCF4):c.207+98_207+99insCTCA	TCF4, TCF4-AS1	Insertion (intron variant)	not provided	GBenign
Select item 1256736	NM_001083962.2(TCF4):c.207+98CA[17]	TCF4, TCF4-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1228191	NM_001083962.2(TCF4):c.207+97_207+104del	TCF4, TCF4-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1223506	NM_001083962.2(TCF4):c.207+129_207+130insAC	TCF4, TCF4-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 1220053	NM_001083962.2(TCF4):c.207+97_207+102del	TCF4, TCF4-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1204043	NM_001083962.2(TCF4):c.922+3G>T	LOC126862757, TCF4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 1203941	NM_001083962.2(TCF4):c.146-275A>T	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203277	NM_001083962.2(TCF4):c.207+94C>G	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196885	NM_001083962.2(TCF4):c.200C>T (p.Pro67Leu)	TCF4, TCF4-AS1 (P169L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1196498	NM_001083962.2(TCF4):c.207+98CA[16]	TCF4, TCF4-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1191687	NM_001083962.2(TCF4):c.1351-153G>C	LOC121627832, TCF4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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