ClinVar for Gene (Select 150356) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266774	NM_138481.2(CHADL):c.266C>T (p.Thr89Ile)	CHADL (T89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266772	NM_138481.2(CHADL):c.1130G>A (p.Arg377His)	CHADL (R377H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266771	NM_138481.2(CHADL):c.1666C>A (p.Arg556Ser)	CHADL (R556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266770	NM_138481.2(CHADL):c.251G>A (p.Gly84Asp)	CHADL (G84D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3144020	NM_138481.2(CHADL):c.989T>G (p.Val330Gly)	CHADL (V330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144019	NM_138481.2(CHADL):c.976G>C (p.Ala326Pro)	CHADL (A326P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144017	NM_138481.2(CHADL):c.890A>G (p.Gln297Arg)	CHADL (Q297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144016	NM_138481.2(CHADL):c.648C>G (p.Asn216Lys)	CHADL (N216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144015	NM_138481.2(CHADL):c.636C>G (p.Ser212Arg)	CHADL (S212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144014	NM_138481.2(CHADL):c.523G>A (p.Ala175Thr)	CHADL (A175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144013	NM_138481.2(CHADL):c.508C>G (p.Leu170Val)	CHADL (L170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144012	NM_138481.2(CHADL):c.44C>T (p.Pro15Leu)	CHADL (P15L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144011	NM_138481.2(CHADL):c.325C>G (p.Leu109Val)	CHADL (L109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144009	NM_138481.2(CHADL):c.253G>T (p.Val85Leu)	CHADL (V85L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144008	NM_138481.2(CHADL):c.2272G>A (p.Glu758Lys)	CHADL, L3MBTL2 (E758K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144007	NM_138481.2(CHADL):c.2211G>C (p.Arg737Ser)	CHADL (R737S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144006	NM_138481.2(CHADL):c.2203G>C (p.Ala735Pro)	CHADL (A735P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144005	NM_138481.2(CHADL):c.2195G>A (p.Arg732Gln)	CHADL (R732Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144004	NM_138481.2(CHADL):c.1797G>T (p.Gln599His)	CHADL (Q599H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144003	NM_138481.2(CHADL):c.1741C>A (p.Leu581Met)	CHADL (L581M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144002	NM_138481.2(CHADL):c.1730A>G (p.Asp577Gly)	CHADL (D577G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144000	NM_138481.2(CHADL):c.1642C>T (p.Arg548Cys)	CHADL (R548C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143999	NM_138481.2(CHADL):c.157C>T (p.Leu53Phe)	CHADL (L53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143998	NM_138481.2(CHADL):c.155A>G (p.Asn52Ser)	CHADL (N52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143997	NM_138481.2(CHADL):c.1513G>A (p.Glu505Lys)	CHADL (E505K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143996	NM_138481.2(CHADL):c.1385C>T (p.Ala462Val)	CHADL (A462V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143995	NM_138481.2(CHADL):c.1217C>T (p.Ser406Phe)	CHADL (S406F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117266	NM_031488.5(L3MBTL2):c.1913C>T (p.Thr638Met)	CHADL, L3MBTL2 (T638M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062461	GRCh37/hg19 22q13.2(chr22:41430641-41815625)x1	CHADL, EP300 +5 more	Copy number loss	not specified	GPathogenic
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2681366	NM_031488.5(L3MBTL2):c.2049G>A (p.Ser683=)	CHADL, L3MBTL2	Single nucleotide variant (synonymous variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2653225	NM_138481.2(CHADL):c.187C>T (p.Leu63=)	CHADL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653224	NM_138481.2(CHADL):c.771G>A (p.Arg257=)	CHADL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653223	NM_138481.2(CHADL):c.1185T>G (p.Pro395=)	CHADL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653222	NM_138481.2(CHADL):c.1194C>T (p.Arg398=)	CHADL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653221	NM_031488.5(L3MBTL2):c.2088C>T (p.Val696=)	CHADL, L3MBTL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623764	NM_138481.2(CHADL):c.701G>A (p.Arg234His)	CHADL (R234H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598917	NM_138481.2(CHADL):c.659C>A (p.Ala220Asp)	CHADL (A220D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590793	NM_138481.2(CHADL):c.2093G>A (p.Gly698Glu)	CHADL (G698E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588750	NM_031488.5(L3MBTL2):c.2018G>A (p.Arg673His)	CHADL, L3MBTL2 (R673H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568616	NM_138481.2(CHADL):c.2087G>T (p.Arg696Leu)	CHADL (R696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549203	NM_138481.2(CHADL):c.1186T>C (p.Cys396Arg)	CHADL (C396R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527666	NM_138481.2(CHADL):c.772G>A (p.Glu258Lys)	CHADL (E258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512444	NM_031488.5(L3MBTL2):c.2017C>T (p.Arg673Cys)	CHADL, L3MBTL2 (R673C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507785	NM_138481.2(CHADL):c.146G>A (p.Arg49Gln)	CHADL (R49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485903	NM_138481.2(CHADL):c.1166A>G (p.Glu389Gly)	CHADL (E389G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481113	NM_138481.2(CHADL):c.448C>G (p.Arg150Gly)	CHADL (R150G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480840	NM_138481.2(CHADL):c.1189C>T (p.Pro397Ser)	CHADL (P397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471613	NM_138481.2(CHADL):c.1666C>G (p.Arg556Gly)	CHADL (R556G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460545	NM_138481.2(CHADL):c.1136C>G (p.Pro379Arg)	CHADL (P379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457351	NM_138481.2(CHADL):c.2259T>G (p.Asp753Glu)	CHADL (D753E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456195	NM_138481.2(CHADL):c.1210C>G (p.Pro404Ala)	CHADL (P404A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2407176	NM_138481.2(CHADL):c.270C>A (p.His90Gln)	CHADL (H90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407098	NM_138481.2(CHADL):c.1346G>A (p.Gly449Asp)	CHADL (G449D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400100	NM_138481.2(CHADL):c.1316C>G (p.Ser439Trp)	CHADL (S439W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396880	NM_138481.2(CHADL):c.1778C>G (p.Pro593Arg)	CHADL (P593R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384780	NM_138481.2(CHADL):c.1055C>T (p.Pro352Leu)	CHADL (P352L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383237	NM_031488.5(L3MBTL2):c.1991C>G (p.Pro664Arg)	CHADL, L3MBTL2 (P664R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2380636	NM_138481.2(CHADL):c.313G>A (p.Ala105Thr)	CHADL (A105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376718	NM_138481.2(CHADL):c.541C>A (p.Leu181Ile)	CHADL (L181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366242	NM_138481.2(CHADL):c.994T>C (p.Ser332Pro)	CHADL (S332P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355839	NM_138481.2(CHADL):c.1808A>G (p.Asn603Ser)	CHADL (N603S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348501	NM_138481.2(CHADL):c.1991T>C (p.Leu664Pro)	CHADL (L664P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346469	NM_138481.2(CHADL):c.14G>A (p.Arg5Gln)	CHADL (R5Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340441	NM_138481.2(CHADL):c.1136C>T (p.Pro379Leu)	CHADL (P379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335266	NM_138481.2(CHADL):c.310G>A (p.Gly104Ser)	CHADL (G104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326526	NM_138481.2(CHADL):c.145C>T (p.Arg49Trp)	CHADL (R49W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325270	NM_138481.2(CHADL):c.1427T>C (p.Ile476Thr)	CHADL (I476T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323974	NM_138481.2(CHADL):c.1000G>T (p.Gly334Cys)	CHADL (G334C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323005	NM_138481.2(CHADL):c.137T>C (p.Val46Ala)	CHADL (V46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322467	NM_138481.2(CHADL):c.71C>T (p.Pro24Leu)	CHADL (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314355	NM_138481.2(CHADL):c.631C>T (p.Leu211Phe)	CHADL (L211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313117	NM_031488.5(L3MBTL2):c.2029G>A (p.Glu677Lys)	CHADL, L3MBTL2 (E677K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310804	NM_138481.2(CHADL):c.1760G>A (p.Gly587Glu)	CHADL (G587E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310729	NM_138481.2(CHADL):c.32C>T (p.Pro11Leu)	CHADL (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304005	NM_138481.2(CHADL):c.1706G>A (p.Arg569Gln)	CHADL (R569Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279372	NM_138481.2(CHADL):c.2188G>A (p.Ala730Thr)	CHADL (A730T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277202	NM_138481.2(CHADL):c.1705C>T (p.Arg569Trp)	CHADL (R569W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276776	NM_138481.2(CHADL):c.1546G>T (p.Ala516Ser)	CHADL (A516S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262469	NM_138481.2(CHADL):c.1129C>T (p.Arg377Cys)	CHADL (R377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252735	NM_138481.2(CHADL):c.1192C>T (p.Arg398Cys)	CHADL (R398C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249656	NM_138481.2(CHADL):c.1066C>T (p.Arg356Cys)	CHADL (R356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244064	NM_138481.2(CHADL):c.175G>A (p.Ala59Thr)	CHADL (A59T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237108	NM_138481.2(CHADL):c.1652A>C (p.Tyr551Ser)	CHADL (Y551S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237008	NM_138481.2(CHADL):c.1751T>G (p.Val584Gly)	CHADL (V584G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219358	NM_138481.2(CHADL):c.157C>A (p.Leu53Ile)	CHADL (L53I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215319	NM_138481.2(CHADL):c.994T>A (p.Ser332Thr)	CHADL (S332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209822	NM_138481.2(CHADL):c.842A>G (p.His281Arg)	CHADL (H281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207725	NM_138481.2(CHADL):c.697G>A (p.Ala233Thr)	CHADL (A233T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 686197	GRCh37/hg19 22q13.2(chr22:41590999-41759326)x1	CHADL, L3MBTL2 +3 more	Copy number loss	not provided	GUncertain significance

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