ClinVar for Gene (Select 6934) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356333	NM_001367943.1(TCF7L2):c.553-11276G>C	TCF7L2 (S15T)	Single nucleotide variant (missense variant +1 more)	TCF7L2-related disorder	GUncertain significance
Select item 3349756	NM_001367943.1(TCF7L2):c.1616A>G (p.Lys539Arg)	TCF7L2 (K499R +3 more)	Single nucleotide variant (missense variant +1 more)	TCF7L2-related disorder	GUncertain significance
Select item 3343008	NM_001367943.1(TCF7L2):c.372del (p.Ala125fs)	TCF7L2 (A125fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3324981	NM_001367943.1(TCF7L2):c.1556C>G (p.Ser519Cys)	TCF7L2 (S479C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324980	NM_001367943.1(TCF7L2):c.1576T>C (p.Ser526Pro)	TCF7L2 (S486P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324979	NM_001367943.1(TCF7L2):c.1489C>G (p.Leu497Val)	TCF7L2 (L474V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3324978	NM_001367943.1(TCF7L2):c.1552G>T (p.Gly518Cys)	TCF7L2 (G478C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324977	NM_001367943.1(TCF7L2):c.1630G>A (p.Ala544Thr)	TCF7L2 (A544T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324976	NM_001367943.1(TCF7L2):c.1550T>C (p.Leu517Pro)	TCF7L2 (L500P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257944	NM_001367943.1(TCF7L2):c.1dup (p.Met1fs)	TCF7L2 (M1fs)	Duplication (frameshift variant +1 more)	TCF7L2-related disorder +1 more	GBenign OLikely benign
Select item 3242371	NM_001367943.1(TCF7L2):c.480T>G (p.Asp160Glu)	TCF7L2 (D137E +1 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus	GUncertain significance
Select item 3239262	NM_001367943.1(TCF7L2):c.1815G>C (p.Gly605=)	TCF7L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 3175182	NM_001367943.1(TCF7L2):c.1618C>T (p.Pro540Ser)	TCF7L2 (P517S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175181	NM_001367943.1(TCF7L2):c.1541C>T (p.Pro514Leu)	TCF7L2 (P491L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 3059087	NM_001367943.1(TCF7L2):c.1570G>A (p.Ala524Thr)	TCF7L2 (A484T +3 more)	Single nucleotide variant (missense variant +1 more)	TCF7L2-related disorder	GBenign
Select item 3058255	NM_001367943.1(TCF7L2):c.1680C>T (p.Ala560=)	TCF7L2	Single nucleotide variant (synonymous variant +1 more)	TCF7L2-related disorder	GLikely benign
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 3048632	NM_001367943.1(TCF7L2):c.296C>A (p.Pro99Gln)	TCF7L2 (P99Q)	Single nucleotide variant (missense variant)	TCF7L2-related disorder	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 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 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 3025050	NM_001367943.1(TCF7L2):c.1542G>A (p.Pro514=)	TCF7L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685389	GRCh37/hg19 10q25.2(chr10:114608930-114787637)x1	TCF7L2	Copy number loss	not provided	GUncertain significance
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
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 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2640845	NM_001367943.1(TCF7L2):c.1776G>A (p.Pro592=)	TCF7L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640844	NM_001367943.1(TCF7L2):c.1653G>A (p.Pro551=)	TCF7L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640843	NM_001367943.1(TCF7L2):c.1542G>C (p.Pro514=)	TCF7L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640842	NM_001367943.1(TCF7L2):c.1152T>G (p.Leu384=)	TCF7L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640841	NM_001367943.1(TCF7L2):c.1002-6C>T	TCF7L2	Single nucleotide variant (intron 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 2640839	NM_001367943.1(TCF7L2):c.816G>A (p.Thr272=)	TCF7L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2640837	NM_001367943.1(TCF7L2):c.82G>C (p.Glu28Gln)	TCF7L2 (E28Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2615154	NM_001367943.1(TCF7L2):c.1813G>C (p.Gly605Arg)	TCF7L2 (G588R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2604598	NM_001367943.1(TCF7L2):c.150T>A (p.Asn50Lys)	TCF7L2 (N50K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2569894	NM_001367943.1(TCF7L2):c.1565G>A (p.Arg522Gln)	TCF7L2 (R505Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 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 2534670	NM_001367943.1(TCF7L2):c.1543A>C (p.Asn515His)	TCF7L2 (N515H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 2513228	NM_001367943.1(TCF7L2):c.1639T>C (p.Ser547Pro)	TCF7L2 (S507P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505229	NM_001367943.1(TCF7L2):c.1592C>A (p.Thr531Asn)	TCF7L2 (T491N +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 2503276	NM_001367943.1(TCF7L2):c.553-1G>A	TCF7L2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 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 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 2501976	NM_001367943.1(TCF7L2):c.1222C>T (p.Gln408Ter)	TCF7L2 (Q225* +7 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2501975	NM_001367943.1(TCF7L2):c.1774C>T (p.Pro592Ser)	TCF7L2 (P552S +3 more)	Single nucleotide variant (missense variant +1 more)	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 +1 more	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 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 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
Select item 2333606	NM_001367943.1(TCF7L2):c.1700T>G (p.Leu567Arg)	TCF7L2 (L567R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326796	NM_001367943.1(TCF7L2):c.1556C>T (p.Ser519Phe)	TCF7L2 (S479F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326795	NM_001367943.1(TCF7L2):c.1545C>G (p.Asn515Lys)	TCF7L2 (N515K +3 more)	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 2297867	NM_001367943.1(TCF7L2):c.755_762del (p.Gln252fs)	TCF7L2 (Q229fs +5 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
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 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 2273023	NM_001367943.1(TCF7L2):c.1754C>T (p.Pro585Leu)	TCF7L2 (P545L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270921	NM_001367943.1(TCF7L2):c.1778C>G (p.Ser593Trp)	TCF7L2 (S553W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261352	NM_001367943.1(TCF7L2):c.1729C>G (p.Pro577Ala)	TCF7L2 (P537A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252661	NM_001367943.1(TCF7L2):c.1634A>G (p.His545Arg)	TCF7L2 (H505R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2223650	NM_001367943.1(TCF7L2):c.1714G>A (p.Ala572Thr)	TCF7L2 (A555T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221608	NM_001367943.1(TCF7L2):c.451-6C>T	TCF7L2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 1984248	NM_001367943.1(TCF7L2):c.1766T>C (p.Ile589Thr)	TCF7L2 (I589T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700132	NM_001367943.1(TCF7L2):c.723del (p.Tyr242fs)	TCF7L2 (Y185fs +5 more)	Deletion (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic
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 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 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 1308651	NM_001367943.1(TCF7L2):c.1197del (p.Tyr400fs)	TCF7L2 (Y217fs +7 more)	Deletion (frameshift variant)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 1295582	NM_001367943.1(TCF7L2):c.788+76TG[17]	TCF7L2	Microsatellite (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 1291995	NM_001367943.1(TCF7L2):c.876-307C>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 1282021	NM_001367943.1(TCF7L2):c.190-89del	TCF7L2	Deletion (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 1278027	NM_001367943.1(TCF7L2):c.381+309dup	TCF7L2	Duplication (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 1276639	NM_001367943.1(TCF7L2):c.-345del	TCF7L2	Deletion (5 prime UTR 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 1275025	NM_001367943.1(TCF7L2):c.876-79dup	TCF7L2	Duplication (intron variant)	not provided	GBenign

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