"Ambry Genetics"[submitter] AND "TCF7L2"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 2226191	NM_001367943.1(TCF7L2):c.1180G>T (p.Glu394Ter)	TCF7L2 (E394* +7 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 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 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)	not provided +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 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 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 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 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 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 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 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 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 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 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 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 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 741522	NM_001367943.1(TCF7L2):c.1744C>A (p.Pro582Thr)	TCF7L2 (P559T +3 more)	Single nucleotide variant (missense variant +1 more)	TCF7L2-related condition +2 more	GBenign/Likely benign
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 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

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Items: 37