"Ambry Genetics"[submitter] AND "TCF20"[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2285352	NM_001378418.1(TCF20):c.5876G>A (p.Arg1959Gln)	TCF20 (R1959Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2231125	NM_001378418.1(TCF20):c.5842G>T (p.Ala1948Ser)	TCF20 (A1948S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544019	NM_001378418.1(TCF20):c.5818C>G (p.Leu1940Val)	TCF20 (L1940V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 985351	NM_001378418.1(TCF20):c.5757G>T (p.Leu1919Phe)	TCF20 (L1919F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723412	NM_001378418.1(TCF20):c.5753G>C (p.Cys1918Ser)	TCF20 (C1918S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 986291	NM_001378418.1(TCF20):c.5719del (p.Arg1907fs)	TCF20 (R1907fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1696762	NM_001378418.1(TCF20):c.5549A>G (p.Asn1850Ser)	TCF20 (N1850S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 2345076	NM_001378418.1(TCF20):c.5446A>G (p.Ser1816Gly)	TCF20 (S1816G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229087	NM_001378418.1(TCF20):c.5395C>G (p.Pro1799Ala)	TCF20 (P1799A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394217	NM_001378418.1(TCF20):c.5375C>T (p.Ser1792Leu)	TCF20 (S1792L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229280	NM_001378418.1(TCF20):c.5360A>G (p.Lys1787Arg)	TCF20 (K1787R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986067	NM_001378418.1(TCF20):c.5328G>T (p.Glu1776Asp)	TCF20 (E1776D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283459	NM_001378418.1(TCF20):c.5263A>G (p.Ser1755Gly)	TCF20 (S1755G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305474	NM_001378418.1(TCF20):c.5257C>T (p.His1753Tyr)	TCF20 (H1753Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2387435	NM_001378418.1(TCF20):c.5234T>C (p.Met1745Thr)	TCF20 (M1745T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 520742	NM_001378418.1(TCF20):c.5069dup (p.Pro1692fs)	TCF20 (P1692fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2271230	NM_001378418.1(TCF20):c.5036G>C (p.Ser1679Thr)	TCF20 (S1679T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613883	NM_001378418.1(TCF20):c.5024G>C (p.Ser1675Thr)	TCF20 (S1675T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2266115	NM_001378418.1(TCF20):c.4922G>A (p.Cys1641Tyr)	TCF20 (C1641Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554780	NM_001378418.1(TCF20):c.4811T>C (p.Ile1604Thr)	TCF20 (I1604T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2589057	NM_001378418.1(TCF20):c.4778C>T (p.Pro1593Leu)	TCF20 (P1593L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1417152	NM_001378418.1(TCF20):c.4681C>G (p.Pro1561Ala)	TCF20 (P1561A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2288391	NM_001378418.1(TCF20):c.4547_4558del (p.Asn1516_Val1519del)	TCF20	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2403846	NM_001378418.1(TCF20):c.4519G>A (p.Ala1507Thr)	TCF20 (A1507T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1690508	NM_001378418.1(TCF20):c.4369G>A (p.Gly1457Arg)	TCF20 (G1457R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 521280	NM_001378418.1(TCF20):c.4368del (p.Gly1457fs)	TCF20 (G1457fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2411384	NM_001378418.1(TCF20):c.4321G>A (p.Val1441Met)	TCF20 (V1441M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2260264	NM_001378418.1(TCF20):c.4291C>T (p.Pro1431Ser)	TCF20 (P1431S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257546	NM_001378418.1(TCF20):c.4129G>A (p.Gly1377Arg)	TCF20 (G1377R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411856	NM_001378418.1(TCF20):c.4109C>T (p.Ser1370Leu)	TCF20 (S1370L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277903	NM_001378418.1(TCF20):c.3931A>G (p.Ile1311Val)	TCF20 (I1311V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1965588	NM_001378418.1(TCF20):c.3916C>G (p.Gln1306Glu)	TCF20 (Q1306E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2469047	NM_001378418.1(TCF20):c.3847C>A (p.Arg1283Ser)	TCF20 (R1283S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236960	NM_001378418.1(TCF20):c.3781A>C (p.Ile1261Leu)	TCF20 (I1261L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1596917	NM_001378418.1(TCF20):c.3718C>G (p.Pro1240Ala)	TCF20 (P1240A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1690499	NM_001378418.1(TCF20):c.3677C>G (p.Ala1226Gly)	TCF20 (A1226G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2437004	NM_001378418.1(TCF20):c.3604G>A (p.Gly1202Ser)	TCF20 (G1202S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 2591055	NM_001378418.1(TCF20):c.3589C>T (p.Pro1197Ser)	TCF20 (P1197S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2544622	NM_001378418.1(TCF20):c.3536A>G (p.His1179Arg)	TCF20 (H1179R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2043956	NM_001378418.1(TCF20):c.3254A>G (p.Tyr1085Cys)	TCF20 (Y1085C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2318330	NM_001378418.1(TCF20):c.3017C>T (p.Pro1006Leu)	TCF20 (P1006L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523996	NM_001378418.1(TCF20):c.2974C>T (p.Pro992Ser)	TCF20 (P992S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985949	NM_001378418.1(TCF20):c.2918A>T (p.Asp973Val)	TCF20 (D973V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050688	NM_001378418.1(TCF20):c.2825T>A (p.Phe942Tyr)	TCF20 (F942Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 985934	NM_001378418.1(TCF20):c.2786_2787del (p.Lys929fs)	TCF20 (K929fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2489930	NM_001378418.1(TCF20):c.2744T>G (p.Val915Gly)	TCF20 (V915G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184432	NM_001378418.1(TCF20):c.2738G>A (p.Gly913Asp)	TCF20 (G913D)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +2 more	GConflicting classifications of pathogenicity
Select item 985812	NM_001378418.1(TCF20):c.2707A>G (p.Thr903Ala)	TCF20 (T903A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521438	NM_001378418.1(TCF20):c.2685del (p.Arg896fs)	TCF20 (R896fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2510796	NM_001378418.1(TCF20):c.2645C>T (p.Ala882Val)	TCF20 (A882V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2271824	NM_001378418.1(TCF20):c.2558C>G (p.Ala853Gly)	TCF20 (A853G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483055	NM_001378418.1(TCF20):c.2460G>C (p.Trp820Cys)	TCF20 (W820C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339848	NM_001378418.1(TCF20):c.2420G>A (p.Ser807Asn)	TCF20 (S807N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542978	NM_001378418.1(TCF20):c.2413A>T (p.Asn805Tyr)	TCF20 (N805Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296810	NM_001378418.1(TCF20):c.2380C>G (p.Gln794Glu)	TCF20 (Q794E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225646	NM_001378418.1(TCF20):c.2332A>G (p.Met778Val)	TCF20 (M778V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521787	NM_001378418.1(TCF20):c.2224C>T (p.Arg742Ter)	TCF20 (R742*)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality +2 more	GPathogenic
Select item 1528345	NM_001378418.1(TCF20):c.2149G>A (p.Val717Met)	TCF20 (V717M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2218640	NM_001378418.1(TCF20):c.1922A>G (p.Asn641Ser)	TCF20 (N641S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2209474	NM_001378418.1(TCF20):c.1873A>G (p.Lys625Glu)	TCF20 (K625E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1964565	NM_001378418.1(TCF20):c.1857G>T (p.Lys619Asn)	TCF20 (K619N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2083909	NM_001378418.1(TCF20):c.1846C>T (p.Arg616Trp)	TCF20 (R616W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2437009	NM_001378418.1(TCF20):c.1844G>T (p.Gly615Val)	TCF20 (G615V)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GUncertain significance
Select item 2392146	NM_001378418.1(TCF20):c.1787A>G (p.Asn596Ser)	TCF20 (N596S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1979516	NM_001378418.1(TCF20):c.1780G>A (p.Asp594Asn)	TCF20 (D594N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1911418	NM_001378418.1(TCF20):c.1744A>G (p.Thr582Ala)	TCF20 (T582A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2474061	NM_001378418.1(TCF20):c.1729G>A (p.Ala577Thr)	TCF20 (A577T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2169300	NM_001378418.1(TCF20):c.1715A>G (p.Asn572Ser)	TCF20 (N572S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2232322	NM_001378418.1(TCF20):c.1666G>A (p.Ala556Thr)	TCF20 (A556T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188297	NM_001378418.1(TCF20):c.1394A>G (p.Asn465Ser)	TCF20 (N465S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2289364	NM_001378418.1(TCF20):c.1327G>A (p.Val443Ile)	TCF20 (V443I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249025	NM_001378418.1(TCF20):c.1270A>G (p.Met424Val)	TCF20 (M424V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2289649	NM_001378418.1(TCF20):c.1186C>A (p.Leu396Ile)	TCF20 (L396I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2535504	NM_001378418.1(TCF20):c.992A>G (p.Tyr331Cys)	TCF20 (Y331C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1963788	NM_001378418.1(TCF20):c.827A>G (p.Asn276Ser)	TCF20 (N276S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2519156	NM_001378418.1(TCF20):c.659C>T (p.Ser220Phe)	TCF20 (S220F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271561	NM_001378418.1(TCF20):c.647C>T (p.Thr216Ile)	TCF20 (T216I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229093	NM_001378418.1(TCF20):c.538G>A (p.Val180Ile)	TCF20 (V180I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271521	NM_001378418.1(TCF20):c.418C>A (p.Gln140Lys)	TCF20 (Q140K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620945	NM_001378418.1(TCF20):c.383A>T (p.Asn128Ile)	TCF20 (N128I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183718	NM_001378418.1(TCF20):c.383A>G (p.Asn128Ser)	TCF20 (N128S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2044975	NM_001378418.1(TCF20):c.284A>G (p.Asn95Ser)	TCF20 (N95S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 985550	NM_001378418.1(TCF20):c.221C>G (p.Ser74Cys)	TCF20 (S74C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2319277	NM_001378418.1(TCF20):c.220T>C (p.Ser74Pro)	TCF20 (S74P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421361	NM_001378418.1(TCF20):c.199G>T (p.Ala67Ser)	TCF20 (A67S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2301778	NM_001378418.1(TCF20):c.181G>C (p.Gly61Arg)	TCF20 (G61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2559208	NM_001378418.1(TCF20):c.94C>T (p.Pro32Ser)	TCF20 (P32S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383936	NM_001378418.1(TCF20):c.73T>G (p.Ser25Ala)	TCF20 (S25A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2608303	NM_001378418.1(TCF20):c.52C>T (p.Pro18Ser)	TCF20 (P18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1878255	NM_001378418.1(TCF20):c.7T>C (p.Ser3Pro)	TCF20 (S3P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 90