TCF7L2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	ACSL5, ADD3 +318 more	Copy number loss	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	LOC130004776, LOC130004777 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	VAX1, VENTX +679 more	Copy number gain	See cases	GPathogenic
Select item 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	ABLIM1, ACSL5 +109 more	Copy number loss	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	DCLRE1A, ABLIM1 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 1260356	NC_000010.11:g.112950166C>T	TCF7L2	Single nucleotide variant	not provided	GBenign
Select item 1222749	NM_001367943.1(TCF7L2):c.-497G>T	TCF7L2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1276639	NM_001367943.1(TCF7L2):c.-345del	TCF7L2	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1274713	NM_001367943.1(TCF7L2):c.-294dup	TCF7L2	Duplication (5 prime UTR variant)	not provided	GBenign
Select item 780893	NM_001367943.1(TCF7L2):c.45C>T (p.Asn15=)	TCF7L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2640837	NM_001367943.1(TCF7L2):c.82G>C (p.Glu28Gln)	TCF7L2 (E28Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049660	NM_001367943.1(TCF7L2):c.84G>C (p.Glu28Asp)	TCF7L2 (E28D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708494	NM_001367943.1(TCF7L2):c.84G>A (p.Glu28=)	TCF7L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604598	NM_001367943.1(TCF7L2):c.150T>A (p.Asn50Lys)	TCF7L2 (N50K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1282021	NM_001367943.1(TCF7L2):c.190-89del	TCF7L2	Deletion (intron variant)	not provided	GBenign
Select item 2640838	NM_001367943.1(TCF7L2):c.200G>A (p.Arg67Gln)	TCF7L2 (R67Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748403	NM_001367943.1(TCF7L2):c.219A>G (p.Glu73=)	TCF7L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2674594	NM_001367943.1(TCF7L2):c.288G>T (p.Lys96Asn)	TCF7L2 (K96N)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 3048632	NM_001367943.1(TCF7L2):c.296C>A (p.Pro99Gln)	TCF7L2 (P99Q)	Single nucleotide variant (missense variant)	TCF7L2-related condition	GUncertain significance
Select item 770593	NM_001367943.1(TCF7L2):c.348C>T (p.Leu116=)	TCF7L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735898	NM_001367943.1(TCF7L2):c.381+10T>C	TCF7L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220588	NM_001367943.1(TCF7L2):c.381+28C>A	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239575	NM_001367943.1(TCF7L2):c.381+294dup	TCF7L2	Duplication (intron variant)	not provided	GBenign
Select item 1278027	NM_001367943.1(TCF7L2):c.381+309dup	TCF7L2	Duplication (intron variant)	not provided	GBenign
Select item 1248694	NM_001367943.1(TCF7L2):c.381+311C>T	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 977438	NM_001367943.1(TCF7L2):c.397G>A (p.Gly133Ser)	TCF7L2 (G133S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GUncertain significance
Select item 2304834	NM_001367943.1(TCF7L2):c.409T>C (p.Tyr137His)	TCF7L2 (Y137H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1177900	NM_001367943.1(TCF7L2):c.450+90_450+92del	TCF7L2	Deletion (intron variant)	not provided	GBenign
Select item 1261071	NM_001367943.1(TCF7L2):c.450+90A>G	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280353	NM_001367943.1(TCF7L2):c.450+115A>G	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174189	NM_001367943.1(TCF7L2):c.450+117_450+118insATGGTGGTG	TCF7L2	Insertion (intron variant)	not provided	GBenign
Select item 1240503	NM_001367943.1(TCF7L2):c.450+137TGG[4]	TCF7L2	Microsatellite (intron variant)	not provided	GBenign
Select item 1263547	NM_001367943.1(TCF7L2):c.450+154A>G	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244289	NM_001367943.1(TCF7L2):c.450+188del	TCF7L2	Deletion (intron variant)	not provided	GBenign
Select item 1692994	NM_001367943.1(TCF7L2):c.450+33966C>G	LOC110121472, TCF7L2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GLikely risk allele
Select item 7413	NM_001367943.1(TCF7L2):c.450+33966C>T	LOC110121472, TCF7L2	Single nucleotide variant (intron variant)	Diabetes mellitus type 2, susceptibility to	Grisk factor
Select item 1275362	NM_001367943.1(TCF7L2):c.451-25858C>T	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 225819	NM_001367943.1(TCF7L2):c.451-25857A>G	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269326	NM_001367943.1(TCF7L2):c.451-22388C>T	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245737	NM_001367943.1(TCF7L2):c.451-22127G>A	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242491	NM_001367943.1(TCF7L2):c.451-22114C>T	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242466	NM_001367943.1(TCF7L2):c.451-22060A>G	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274945	NM_001367943.1(TCF7L2):c.451-14360G>A	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2221608	NM_001367943.1(TCF7L2):c.451-6C>T	TCF7L2	Single nucleotide variant (intron variant)	TCF7L2-related condition +1 more	GLikely benign
Select item 2384659	NM_001367943.1(TCF7L2):c.527G>A (p.Arg176Gln)	TCF7L2 (R153Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3037224	NM_001367943.1(TCF7L2):c.528G>A (p.Arg176=)	TCF7L2	Single nucleotide variant (synonymous variant +1 more)	TCF7L2-related condition	GLikely benign
Select item 2588339	NM_001367943.1(TCF7L2):c.547A>G (p.Ile183Val)	TCF7L2 (I183V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 7415	NM_001367943.1(TCF7L2):c.552+7162G>C	TCF7L2	Single nucleotide variant (intron variant)	Diabetes mellitus type 2, susceptibility to	Grisk factor
Select item 7414	NM_001367943.1(TCF7L2):c.552+9017G>T	TCF7L2	Single nucleotide variant (intron variant)	Diabetes mellitus type 2, susceptibility to	Grisk factor
Select item 157187	NM_001367943.1(TCF7L2):c.552+46764_552+47838del	TCF7L2	Deletion (intron variant)	Normal pregnancy	Gnot provided
Select item 2277423	NM_001367943.1(TCF7L2):c.552+49329C>T	TCF7L2 (S180L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277941	NM_001367943.1(TCF7L2):c.552+49416T>A	TCF7L2	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1267768	NM_001367943.1(TCF7L2):c.552+49468C>T	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293151	NM_001367943.1(TCF7L2):c.552+49514C>T	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247508	NM_001367943.1(TCF7L2):c.553-316T>C	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2503276	NM_001367943.1(TCF7L2):c.553-1G>A	TCF7L2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2536193	NM_001367943.1(TCF7L2):c.565C>T (p.Pro189Ser)	TCF7L2 (P6S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067510	NM_001367943.1(TCF7L2):c.621C>G (p.Ser207Arg)	TCF7L2 (S150R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1235472	NM_001367943.1(TCF7L2):c.685+126del	TCF7L2	Deletion (intron variant)	not provided	GBenign
Select item 1246257	NM_001367943.1(TCF7L2):c.685+126G>T	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 720055	NM_001367943.1(TCF7L2):c.702G>A (p.Pro234=)	TCF7L2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1700132	NM_001367943.1(TCF7L2):c.723del (p.Tyr242fs)	TCF7L2 (Y185fs +5 more)	Deletion (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 2297867	NM_001367943.1(TCF7L2):c.755_762del (p.Gln252fs)	TCF7L2 (Q229fs +5 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2491249	NM_001367943.1(TCF7L2):c.777G>T (p.Trp259Cys)	TCF7L2 (W236C +5 more)	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1222569	NM_001367943.1(TCF7L2):c.788+75_788+98del	TCF7L2	Deletion (intron variant)	not provided	GBenign
Select item 1267777	NM_001367943.1(TCF7L2):c.788+76TG[19]	TCF7L2	Microsatellite (intron variant)	not provided	GBenign
Select item 1295582	NM_001367943.1(TCF7L2):c.788+76TG[17]	TCF7L2	Microsatellite (intron variant)	not provided	GBenign
Select item 1256720	NM_001367943.1(TCF7L2):c.788+76TG[16]	TCF7L2	Microsatellite (intron variant)	not provided	GBenign
Select item 1243389	NM_001367943.1(TCF7L2):c.788+76TG[15]	TCF7L2	Microsatellite (intron variant)	not provided	GBenign
Select item 1226673	NM_001367943.1(TCF7L2):c.788+76TG[14]	TCF7L2	Microsatellite (intron variant)	not provided	GBenign
Select item 1183640	NM_001367943.1(TCF7L2):c.788+76TG[13]	TCF7L2	Microsatellite (intron variant)	not provided	GBenign
Select item 1234388	NM_001367943.1(TCF7L2):c.788+252G>A	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640839	NM_001367943.1(TCF7L2):c.816G>A (p.Thr272=)	TCF7L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640840	NM_001367943.1(TCF7L2):c.855C>T (p.Thr285=)	TCF7L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 984603	NM_001367943.1(TCF7L2):c.875+1G>C	TCF7L2	Single nucleotide variant (splice donor variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 1291995	NM_001367943.1(TCF7L2):c.876-307C>T	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275025	NM_001367943.1(TCF7L2):c.876-79dup	TCF7L2	Duplication (intron variant)	not provided	GBenign
Select item 2533306	NM_001367943.1(TCF7L2):c.916A>T (p.Thr306Ser)	TCF7L2 (T279S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026266	NM_001367943.1(TCF7L2):c.940A>G (p.Ile314Val)	TCF7L2 (I131V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181499	NM_001367943.1(TCF7L2):c.1001+197T>C	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640841	NM_001367943.1(TCF7L2):c.1002-6C>T	TCF7L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2501987	NM_001367943.1(TCF7L2):c.1060C>T (p.Leu354Phe)	TCF7L2 (L171F +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501984	NM_001367943.1(TCF7L2):c.1141A>C (p.Asn381His)	TCF7L2 (N198H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499565	NM_001367943.1(TCF7L2):c.1144C>T (p.Gln382Ter)	TCF7L2 (Q199* +7 more)	Single nucleotide variant (nonsense)	Autism	GPathogenic
Select item 2640842	NM_001367943.1(TCF7L2):c.1152T>G (p.Leu384=)	TCF7L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696586	NM_001367943.1(TCF7L2):c.1162-7C>A	TCF7L2	Single nucleotide variant (intron variant)	TCF7L2-related Intellectual disability	GUncertain significance
Select item 2226191	NM_001367943.1(TCF7L2):c.1180G>T (p.Glu394Ter)	TCF7L2 (E394* +7 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1308651	NM_001367943.1(TCF7L2):c.1197del (p.Tyr400fs)	TCF7L2 (Y217fs +7 more)	Deletion (frameshift variant)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 2609777	NM_001367943.1(TCF7L2):c.1203G>C (p.Glu401Asp)	TCF7L2 (E218D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503277	NM_001367943.1(TCF7L2):c.1219C>T (p.Arg407Ter)	TCF7L2 (R224* +7 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2501976	NM_001367943.1(TCF7L2):c.1222C>T (p.Gln408Ter)	TCF7L2 (Q225* +7 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2549907	NM_001367943.1(TCF7L2):c.1246G>A (p.Gly416Ser)	TCF7L2 (G233S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054967	NM_001367943.1(TCF7L2):c.1254C>T (p.Ser418=)	TCF7L2	Single nucleotide variant (synonymous variant)	TCF7L2-related condition	GLikely benign
Select item 2501986	NM_001367943.1(TCF7L2):c.1268A>G (p.Tyr423Cys)	TCF7L2 (Y240C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1236704	NM_001367943.1(TCF7L2):c.1269+335C>T	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign

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