TCF7L2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 disorder	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)	Inborn genetic diseases	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 3175184	NM_001367943.1(TCF7L2):c.416C>T (p.Ala139Val)	TCF7L2 (A139V)	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 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)	Inborn genetic diseases +1 more	GLikely benign
Select item 3175185	NM_001367943.1(TCF7L2):c.519G>C (p.Lys173Asn)	TCF7L2 (K173N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 disorder	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 3175186	NM_001367943.1(TCF7L2):c.623A>G (p.Asn208Ser)	TCF7L2 (N151S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	TCF7L2-related disorder +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 (missense 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 disorder	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
Select item 1289502	NM_001367943.1(TCF7L2):c.1370-197A>G	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248717	NM_001367943.1(TCF7L2):c.1442+338A>G	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277159	NM_001367943.1(TCF7L2):c.1442+1770C>T	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268412	NM_001367943.1(TCF7L2):c.1442+1910G>T	TCF7L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3175179	NM_001367943.1(TCF7L2):c.1446A>G (p.Arg482=)	TCF7L2 (E465G +6 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3025903	NM_001367943.1(TCF7L2):c.1459G>A (p.Val487Ile)	TCF7L2 (V447I +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3175180	NM_001367943.1(TCF7L2):c.1494C>T (p.Ser498=)	TCF7L2 (A481V +6 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1239735	NM_001367943.1(TCF7L2):c.1498C>A (p.Pro500Thr)	TCF7L2 (H401Q +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2382191	NM_001367943.1(TCF7L2):c.1534C>A (p.Pro512Thr)	TCF7L2 (P512T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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