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

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2383237	NM_031488.5(L3MBTL2):c.1991C>G (p.Pro664Arg)	CHADL, L3MBTL2 (P664R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512444	NM_031488.5(L3MBTL2):c.2017C>T (p.Arg673Cys)	CHADL, L3MBTL2 (R673C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588750	NM_031488.5(L3MBTL2):c.2018G>A (p.Arg673His)	CHADL, L3MBTL2 (R673H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313117	NM_031488.5(L3MBTL2):c.2029G>A (p.Glu677Lys)	CHADL, L3MBTL2 (E677K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457351	NM_138481.2(CHADL):c.2259T>G (p.Asp753Glu)	CHADL (D753E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279372	NM_138481.2(CHADL):c.2188G>A (p.Ala730Thr)	CHADL (A730T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590793	NM_138481.2(CHADL):c.2093G>A (p.Gly698Glu)	CHADL (G698E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568616	NM_138481.2(CHADL):c.2087G>T (p.Arg696Leu)	CHADL (R696L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348501	NM_138481.2(CHADL):c.1991T>C (p.Leu664Pro)	CHADL (L664P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355839	NM_138481.2(CHADL):c.1808A>G (p.Asn603Ser)	CHADL (N603S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396880	NM_138481.2(CHADL):c.1778C>G (p.Pro593Arg)	CHADL (P593R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310804	NM_138481.2(CHADL):c.1760G>A (p.Gly587Glu)	CHADL (G587E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237008	NM_138481.2(CHADL):c.1751T>G (p.Val584Gly)	CHADL (V584G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304005	NM_138481.2(CHADL):c.1706G>A (p.Arg569Gln)	CHADL (R569Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277202	NM_138481.2(CHADL):c.1705C>T (p.Arg569Trp)	CHADL (R569W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471613	NM_138481.2(CHADL):c.1666C>G (p.Arg556Gly)	CHADL (R556G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237108	NM_138481.2(CHADL):c.1652A>C (p.Tyr551Ser)	CHADL (Y551S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276776	NM_138481.2(CHADL):c.1546G>T (p.Ala516Ser)	CHADL (A516S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325270	NM_138481.2(CHADL):c.1427T>C (p.Ile476Thr)	CHADL (I476T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407098	NM_138481.2(CHADL):c.1346G>A (p.Gly449Asp)	CHADL (G449D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400100	NM_138481.2(CHADL):c.1316C>G (p.Ser439Trp)	CHADL (S439W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456195	NM_138481.2(CHADL):c.1210C>G (p.Pro404Ala)	CHADL (P404A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252735	NM_138481.2(CHADL):c.1192C>T (p.Arg398Cys)	CHADL (R398C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480840	NM_138481.2(CHADL):c.1189C>T (p.Pro397Ser)	CHADL (P397S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549203	NM_138481.2(CHADL):c.1186T>C (p.Cys396Arg)	CHADL (C396R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485903	NM_138481.2(CHADL):c.1166A>G (p.Glu389Gly)	CHADL (E389G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460545	NM_138481.2(CHADL):c.1136C>G (p.Pro379Arg)	CHADL (P379R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340441	NM_138481.2(CHADL):c.1136C>T (p.Pro379Leu)	CHADL (P379L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262469	NM_138481.2(CHADL):c.1129C>T (p.Arg377Cys)	CHADL (R377C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249656	NM_138481.2(CHADL):c.1066C>T (p.Arg356Cys)	CHADL (R356C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384780	NM_138481.2(CHADL):c.1055C>T (p.Pro352Leu)	CHADL (P352L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323974	NM_138481.2(CHADL):c.1000G>T (p.Gly334Cys)	CHADL (G334C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366242	NM_138481.2(CHADL):c.994T>C (p.Ser332Pro)	CHADL (S332P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215319	NM_138481.2(CHADL):c.994T>A (p.Ser332Thr)	CHADL (S332T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209822	NM_138481.2(CHADL):c.842A>G (p.His281Arg)	CHADL (H281R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527666	NM_138481.2(CHADL):c.772G>A (p.Glu258Lys)	CHADL (E258K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623764	NM_138481.2(CHADL):c.701G>A (p.Arg234His)	CHADL (R234H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207725	NM_138481.2(CHADL):c.697G>A (p.Ala233Thr)	CHADL (A233T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598917	NM_138481.2(CHADL):c.659C>A (p.Ala220Asp)	CHADL (A220D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314355	NM_138481.2(CHADL):c.631C>T (p.Leu211Phe)	CHADL (L211F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376718	NM_138481.2(CHADL):c.541C>A (p.Leu181Ile)	CHADL (L181I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481113	NM_138481.2(CHADL):c.448C>G (p.Arg150Gly)	CHADL (R150G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380636	NM_138481.2(CHADL):c.313G>A (p.Ala105Thr)	CHADL (A105T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335266	NM_138481.2(CHADL):c.310G>A (p.Gly104Ser)	CHADL (G104S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407176	NM_138481.2(CHADL):c.270C>A (p.His90Gln)	CHADL (H90Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244064	NM_138481.2(CHADL):c.175G>A (p.Ala59Thr)	CHADL (A59T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2219358	NM_138481.2(CHADL):c.157C>A (p.Leu53Ile)	CHADL (L53I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507785	NM_138481.2(CHADL):c.146G>A (p.Arg49Gln)	CHADL (R49Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326526	NM_138481.2(CHADL):c.145C>T (p.Arg49Trp)	CHADL (R49W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323005	NM_138481.2(CHADL):c.137T>C (p.Val46Ala)	CHADL (V46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322467	NM_138481.2(CHADL):c.71C>T (p.Pro24Leu)	CHADL (P24L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310729	NM_138481.2(CHADL):c.32C>T (p.Pro11Leu)	CHADL (P11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346469	NM_138481.2(CHADL):c.14G>A (p.Arg5Gln)	CHADL (R5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 53