ClinVar for Gene (Select 51339) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242040	NM_001079520.2(DACT1):c.1703C>T (p.Thr568Met)	DACT1 (T568M +1 more)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2	GUncertain significance
Select item 3079952	NM_001079520.2(DACT1):c.758A>G (p.Asn253Ser)	DACT1 (N253S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079950	NM_001079520.2(DACT1):c.2188G>A (p.Val730Met)	DACT1 (V767M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079949	NM_001079520.2(DACT1):c.2169T>A (p.Ser723Arg)	DACT1 (S760R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079948	NM_001079520.2(DACT1):c.2035C>T (p.Pro679Ser)	DACT1 (P679S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079947	NM_001079520.2(DACT1):c.1997G>A (p.Gly666Glu)	DACT1 (G666E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079946	NM_001079520.2(DACT1):c.19G>C (p.Gly7Arg)	DACT1, LOC130055736 (G7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079945	NM_001079520.2(DACT1):c.1792G>C (p.Gly598Arg)	DACT1 (G598R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079944	NM_001079520.2(DACT1):c.184C>T (p.Arg62Cys)	DACT1, LOC130055736 (R62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079943	NM_001079520.2(DACT1):c.1732C>G (p.Pro578Ala)	DACT1 (P578A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079941	NM_001079520.2(DACT1):c.1717A>G (p.Lys573Glu)	DACT1 (K610E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079940	NM_001079520.2(DACT1):c.1601G>A (p.Arg534Gln)	DACT1 (R534Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079938	NM_001079520.2(DACT1):c.936A>C (p.Lys312Asn)	DACT1 (K312N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059824	NM_001079520.2(DACT1):c.1023C>T (p.Val341=)	DACT1	Single nucleotide variant (synonymous variant +1 more)	DACT1-related disorder	GBenign
Select item 3058180	NM_001079520.2(DACT1):c.1977C>T (p.Arg659=)	DACT1	Single nucleotide variant (synonymous variant +1 more)	DACT1-related disorder	GLikely benign
Select item 3051835	NM_001079520.2(DACT1):c.621C>T (p.Cys207=)	DACT1	Single nucleotide variant (synonymous variant +1 more)	DACT1-related disorder	GLikely benign
Select item 3049750	NM_001079520.2(DACT1):c.1017T>C (p.Val339=)	DACT1	Single nucleotide variant (synonymous variant +1 more)	DACT1-related disorder	GLikely benign
Select item 3042774	NM_001079520.2(DACT1):c.1008C>T (p.Asn336=)	DACT1	Single nucleotide variant (synonymous variant +1 more)	DACT1-related disorder	GLikely benign
Select item 3037405	NM_001079520.2(DACT1):c.1771T>G (p.Ser591Ala)	DACT1 (S591A +1 more)	Single nucleotide variant (missense variant +1 more)	DACT1-related disorder	GBenign
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2681229	NM_001079520.2(DACT1):c.1637G>A (p.Ser546Asn)	DACT1 (S546N +1 more)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2644263	NM_001079520.2(DACT1):c.2009C>T (p.Ala670Val)	DACT1 (A670V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2644262	NM_001079520.2(DACT1):c.1194G>T (p.Leu398=)	DACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631540	NM_001079520.2(DACT1):c.1277A>G (p.His426Arg)	DACT1 (H426R +1 more)	Single nucleotide variant (missense variant +1 more)	DACT1-related disorder	GUncertain significance
Select item 2631317	NM_001079520.2(DACT1):c.883C>G (p.Pro295Ala)	DACT1 (P295A +1 more)	Single nucleotide variant (missense variant +1 more)	DACT1-related disorder	GUncertain significance
Select item 2631136	NM_001079520.2(DACT1):c.25G>C (p.Ala9Pro)	DACT1, LOC130055736 (A9P)	Single nucleotide variant (missense variant)	DACT1-related disorder	GUncertain significance
Select item 2622837	NM_001079520.2(DACT1):c.1840C>T (p.His614Tyr)	DACT1 (H614Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621518	NM_001079520.2(DACT1):c.1155A>C (p.Glu385Asp)	DACT1 (E422D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607900	NM_001079520.2(DACT1):c.1253C>T (p.Thr418Met)	DACT1 (T418M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605083	NM_001079520.2(DACT1):c.2084C>A (p.Ser695Tyr)	DACT1 (S695Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599769	NM_001079520.2(DACT1):c.1108T>C (p.Ser370Pro)	DACT1 (S370P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599465	NM_001079520.2(DACT1):c.1811G>C (p.Gly604Ala)	DACT1 (G641A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589656	NM_001079520.2(DACT1):c.1742T>G (p.Leu581Trp)	DACT1 (L581W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588897	NM_001079520.2(DACT1):c.752C>T (p.Thr251Met)	DACT1 (T251M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2578725	GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)x1	TOMM20L, ACTR10 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2570106	NM_001079520.2(DACT1):c.1474G>A (p.Ala492Thr)	DACT1 (A529T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568478	NM_001079520.2(DACT1):c.635-27A>G	DACT1 (Q240R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2562860	NM_001079520.2(DACT1):c.1678G>A (p.Gly560Ser)	DACT1 (G597S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551646	NM_001079520.2(DACT1):c.2110A>T (p.Thr704Ser)	DACT1 (T704S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522290	NM_001079520.2(DACT1):c.1919G>A (p.Arg640Gln)	DACT1 (R640Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518156	NM_001079520.2(DACT1):c.851C>T (p.Pro284Leu)	DACT1 (P284L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510135	NM_001079520.2(DACT1):c.760C>G (p.Pro254Ala)	DACT1 (P291A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491604	NM_001079520.2(DACT1):c.1766A>C (p.Lys589Thr)	DACT1 (K589T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487718	NM_001079520.2(DACT1):c.2024C>T (p.Pro675Leu)	DACT1 (P712L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486467	NM_001079520.2(DACT1):c.2017C>T (p.Pro673Ser)	DACT1 (P673S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476410	NM_001079520.2(DACT1):c.1160A>C (p.Lys387Thr)	DACT1 (K387T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470296	NM_001079520.2(DACT1):c.1819G>T (p.Gly607Cys)	DACT1 (G607C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466706	NM_001079520.2(DACT1):c.2366G>A (p.Arg789Gln)	DACT1 (R789Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464243	NM_001079520.2(DACT1):c.253C>G (p.Arg85Gly)	DACT1, LOC130055736 (R85G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461648	NM_001079520.2(DACT1):c.1513A>T (p.Ser505Cys)	DACT1 (S505C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460948	NM_001079520.2(DACT1):c.2294A>C (p.His765Pro)	DACT1 (H765P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454936	NM_001079520.2(DACT1):c.809G>A (p.Gly270Asp)	DACT1 (G270D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443967	NM_001079520.2(DACT1):c.1779G>T (p.Lys593Asn)	DACT1 (K593N)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2	GPathogenic
Select item 2443966	NM_001079520.2(DACT1):c.2357T>G (p.Leu786Arg)	DACT1 (L823R +1 more)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2	GPathogenic
Select item 2443965	NM_001079520.2(DACT1):c.1660C>T (p.Leu554Phe)	DACT1 (L591F +1 more)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2	GPathogenic
Select item 2443964	NM_001079520.2(DACT1):c.1592G>A (p.Arg531Lys)	DACT1 (R568K +1 more)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2	GPathogenic
Select item 2408257	NM_001079520.2(DACT1):c.124C>A (p.Gln42Lys)	DACT1, LOC130055736 (Q42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399217	NM_001079520.2(DACT1):c.2041G>A (p.Ala681Thr)	DACT1 (A718T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393212	NM_001079520.2(DACT1):c.635-6T>C	DACT1 (I247T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366565	NM_001079520.2(DACT1):c.817G>A (p.Glu273Lys)	DACT1 (E310K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2364029	NM_001079520.2(DACT1):c.1015G>C (p.Val339Leu)	DACT1 (V339L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357369	NM_001079520.2(DACT1):c.635-45G>A	DACT1 (R234H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2352388	NM_001079520.2(DACT1):c.829G>T (p.Val277Phe)	DACT1 (V277F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2345115	NM_001079520.2(DACT1):c.1735G>C (p.Asp579His)	DACT1 (D616H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328759	NM_001079520.2(DACT1):c.1683G>T (p.Leu561Phe)	DACT1 (L598F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301835	NM_001079520.2(DACT1):c.703C>T (p.Pro235Ser)	DACT1 (P235S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298673	NM_001079520.2(DACT1):c.1012A>G (p.Ser338Gly)	DACT1 (S338G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288554	NM_001079520.2(DACT1):c.1610G>C (p.Arg537Thr)	DACT1 (R574T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276722	NM_001079520.2(DACT1):c.635-54C>A	DACT1 (A231E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274722	NM_001079520.2(DACT1):c.1952A>G (p.Glu651Gly)	DACT1 (E651G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273186	NM_001079520.2(DACT1):c.1282C>T (p.Arg428Trp)	DACT1 (R465W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259584	NM_001079520.2(DACT1):c.631G>T (p.Ala211Ser)	DACT1 (A211S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248534	NM_001079520.2(DACT1):c.2140A>G (p.Thr714Ala)	DACT1 (T714A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247572	NM_001079520.2(DACT1):c.2143A>G (p.Asn715Asp)	DACT1 (N752D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238702	NM_001079520.2(DACT1):c.1862A>G (p.His621Arg)	DACT1 (H621R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231657	NM_001079520.2(DACT1):c.1091C>T (p.Pro364Leu)	DACT1 (P401L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210803	NM_001079520.2(DACT1):c.1616T>G (p.Met539Arg)	DACT1 (M539R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809007	GRCh37/hg19 14q23.1(chr14:58833909-59109480)x3	ARID4A, DACT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1709329	NM_001079520.2(DACT1):c.2122G>A (p.Glu708Lys)	DACT1 (E708K +1 more)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1294528	NM_001079520.2(DACT1):c.1225G>A (p.Asp409Asn)	DACT1 (D409N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1257885	NM_001079520.2(DACT1):c.1978G>A (p.Gly660Ser)	DACT1 (G660S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1255448	NM_001079520.2(DACT1):c.1280C>T (p.Ala427Val)	DACT1 (A427V +1 more)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2	GBenign
Select item 1255447	NM_001079520.2(DACT1):c.268C>T (p.Leu90=)	DACT1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 2	GBenign
Select item 1184920	NM_001079520.2(DACT1):c.1362_1363del (p.Ser454fs)	DACT1 (S454fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 982996	NM_001079520.2(DACT1):c.2207C>T (p.Thr736Ile)	DACT1 (T736I +1 more)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2	GUncertain significance
Select item 932673	NM_001079520.2(DACT1):c.1820G>A (p.Gly607Asp)	DACT1 (G607D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 815663	GRCh37/hg19 14q23.1(chr14:59083003-59299372)x1	DACT1	Copy number loss	not provided	GUncertain significance
Select item 815660	GRCh37/hg19 14q22.3-23.1(chr14:56605398-59404256)x1	ACTR10, AP5M1 +14 more	Copy number loss	not provided	GPathogenic
Select item 797716	NM_001079520.2(DACT1):c.1224C>G (p.Ser408=)	DACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 795075	NM_001079520.2(DACT1):c.635-121T>C	DACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 790142	NM_001079520.2(DACT1):c.1193T>C (p.Leu398Pro)	DACT1 (L398P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 782307	NM_001079520.2(DACT1):c.930G>C (p.Gln310His)	DACT1 (Q347H +1 more)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2 +1 more	GLikely benign
Select item 779684	NM_001079520.2(DACT1):c.1896T>G (p.Pro632=)	DACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 779683	NM_001079520.2(DACT1):c.1500C>G (p.Ala500=)	DACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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