"PreventionGenetics, part of Exact Sciences"[submitter] AND "TCF20"[ge - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056920	NM_001378418.1(TCF20):c.*2G>T	TCF20	Single nucleotide variant (3 prime UTR variant +1 more)	TCF20-related disorder	GLikely benign
Select item 725819	NM_001378418.1(TCF20):c.5825C>A (p.Pro1942His)	TCF20 (P1942H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2072362	NM_001378418.1(TCF20):c.5824C>G (p.Pro1942Ala)	TCF20 (P1942A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1624844	NM_001378418.1(TCF20):c.5800-8C>T	TCF20	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2710779	NM_001378418.1(TCF20):c.5677G>A (p.Ala1893Thr)	TCF20 (A1893T)	Single nucleotide variant (missense variant)	TCF20-related disorder +1 more	GLikely benign
Select item 3049912	NM_001378418.1(TCF20):c.5655+10A>T	TCF20	Single nucleotide variant (intron variant)	TCF20-related disorder	GLikely benign
Select item 2049562	NM_001378418.1(TCF20):c.5450G>A (p.Ser1817Asn)	TCF20 (S1817N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2630067	NM_001378418.1(TCF20):c.5134G>A (p.Ala1712Thr)	TCF20 (A1712T)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 2632698	NM_001378418.1(TCF20):c.5077G>A (p.Val1693Ile)	TCF20 (V1693I)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 2629370	NM_001378418.1(TCF20):c.4934C>T (p.Ala1645Val)	TCF20 (A1645V)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 1598934	NM_001378418.1(TCF20):c.4815G>A (p.Val1605=)	TCF20	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3030723	NM_001378418.1(TCF20):c.4440T>C (p.Asp1480=)	TCF20	Single nucleotide variant (synonymous variant)	TCF20-related disorder	GLikely benign
Select item 779051	NM_001378418.1(TCF20):c.4407A>G (p.Ser1469=)	TCF20	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1336877	NM_001378418.1(TCF20):c.4241C>T (p.Ser1414Leu)	TCF20 (S1414L)	Single nucleotide variant (missense variant)	TCF20-related disorder +2 more	GBenign/Likely benign
Select item 3030856	NM_001378418.1(TCF20):c.3731A>T (p.Asp1244Val)	TCF20 (D1244V)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 2071090	NM_001378418.1(TCF20):c.3594C>T (p.Ala1198=)	TCF20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2139068	NM_001378418.1(TCF20):c.3578G>A (p.Arg1193Gln)	TCF20 (R1193Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3029337	NM_001378418.1(TCF20):c.3354G>A (p.Gly1118=)	TCF20	Single nucleotide variant (synonymous variant)	TCF20-related disorder	GLikely benign
Select item 2078472	NM_001378418.1(TCF20):c.3288G>A (p.Glu1096=)	TCF20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2201364	NM_001378418.1(TCF20):c.2957C>T (p.Thr986Met)	TCF20 (T986M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 709641	NM_001378418.1(TCF20):c.2797T>C (p.Phe933Leu)	TCF20 (F933L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2632303	NM_001378418.1(TCF20):c.2680A>G (p.Ile894Val)	TCF20 (I894V)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 729353	NM_001378418.1(TCF20):c.2661C>T (p.His887=)	TCF20	Single nucleotide variant (synonymous variant)	TCF20-related disorder +1 more	GBenign
Select item 3056897	NM_001378418.1(TCF20):c.2217T>C (p.His739=)	TCF20	Single nucleotide variant (synonymous variant)	TCF20-related disorder	GLikely benign
Select item 2631348	NM_001378418.1(TCF20):c.2099A>G (p.Lys700Arg)	TCF20 (K700R)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 2991690	NM_001378418.1(TCF20):c.2062G>A (p.Ala688Thr)	TCF20 (A688T)	Single nucleotide variant (missense variant)	TCF20-related disorder +1 more	GUncertain significance
Select item 2629761	NM_001378418.1(TCF20):c.1986dup (p.Ser663fs)	TCF20 (S663fs)	Duplication (frameshift variant)	TCF20-related disorder	GLikely pathogenic
Select item 1213736	NM_001378418.1(TCF20):c.1894C>A (p.Pro632Thr)	TCF20 (P632T)	Single nucleotide variant (missense variant)	TCF20-related disorder +2 more	GUncertain significance
Select item 2631208	NM_001378418.1(TCF20):c.1871A>G (p.Asp624Gly)	TCF20 (D624G)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 1662891	NM_001378418.1(TCF20):c.1676C>T (p.Ser559Leu)	TCF20 (S559L)	Single nucleotide variant (missense variant)	TCF20-related disorder +1 more	GLikely benign
Select item 2059899	NM_001378418.1(TCF20):c.1454C>A (p.Thr485Asn)	TCF20 (T485N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1468810	NM_001378418.1(TCF20):c.1406C>T (p.Thr469Ile)	TCF20 (T469I)	Single nucleotide variant (missense variant)	TCF20-related disorder +1 more	GUncertain significance
Select item 2043635	NM_001378418.1(TCF20):c.1216G>A (p.Gly406Ser)	TCF20 (G406S)	Single nucleotide variant (missense variant)	TCF20-related disorder +1 more	GLikely benign
Select item 2629707	NM_001378418.1(TCF20):c.1141A>G (p.Ser381Gly)	TCF20 (S381G)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 1523296	NM_001378418.1(TCF20):c.1029A>C (p.Gln343His)	TCF20 (Q343H)	Single nucleotide variant (missense variant)	TCF20-related disorder +2 more	GBenign/Likely benign
Select item 2065574	NM_001378418.1(TCF20):c.960ACA[2] (p.Gln322del)	TCF20 (Q322del)	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 2629988	NM_001378418.1(TCF20):c.853G>T (p.Gly285Ter)	TCF20 (G285*)	Single nucleotide variant (nonsense)	TCF20-related disorder	GPathogenic
Select item 3009491	NM_001378418.1(TCF20):c.851A>C (p.Tyr284Ser)	TCF20 (Y284S)	Single nucleotide variant (missense variant)	TCF20-related disorder +1 more	GUncertain significance
Select item 782969	NM_001378418.1(TCF20):c.719CCT[6] (p.Ser246del)	TCF20 (S246del)	Microsatellite (inframe_deletion)	not provided +1 more	GLikely benign
Select item 2633399	NM_001378418.1(TCF20):c.679A>G (p.Arg227Gly)	TCF20 (R227G)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 1599254	NM_001378418.1(TCF20):c.519C>T (p.Ser173=)	TCF20	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3061067	NM_001378418.1(TCF20):c.419A>G (p.Gln140Arg)	TCF20 (Q140R)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 2065290	NM_001378418.1(TCF20):c.401G>A (p.Gly134Asp)	TCF20 (G134D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 712416	NM_001378418.1(TCF20):c.354T>C (p.Tyr118=)	TCF20	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1599272	NM_001378418.1(TCF20):c.197C>T (p.Ala66Val)	TCF20 (A66V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1338380	NM_001378418.1(TCF20):c.150CAGTGG[2] (p.51SG[2])	TCF20	Microsatellite (inframe_deletion)	TCF20-related disorder +2 more	GBenign/Likely benign
Select item 741281	NM_001378418.1(TCF20):c.147C>T (p.Gly49=)	TCF20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2634995	NM_001378418.1(TCF20):c.110T>A (p.Met37Lys)	TCF20 (M37K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 48