L3MBTL2[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067848, LOC130067849 +687 more	Copy number gain	See cases	GPathogenic
Select item 145112	GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3	CHADL, DNAJB7 +32 more	Copy number gain	See cases	GUncertain significance
Select item 57233	GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3	CHADL, DNAJB7 +28 more	Copy number gain	See cases	GUncertain significance
Select item 471411	NC_000022.10:g.(?_41264983)_(41729217_?)dup	LOC130067524, LOC130067525 +27 more	Duplication	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2257688	NM_031488.5(L3MBTL2):c.9G>T (p.Lys3Asn)	L3MBTL2 (K3N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303457	NM_031488.5(L3MBTL2):c.20T>C (p.Ile7Thr)	L3MBTL2 (I7T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235985	NM_031488.5(L3MBTL2):c.89A>G (p.Tyr30Cys)	L3MBTL2, L3MBTL2-AS1 (Y30C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 771544	NM_031488.5(L3MBTL2):c.101G>C (p.Arg34Pro)	L3MBTL2, L3MBTL2-AS1 (R34P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2540060	NM_031488.5(L3MBTL2):c.125G>A (p.Ser42Asn)	L3MBTL2, L3MBTL2-AS1 (S42N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489813	NM_031488.5(L3MBTL2):c.230C>A (p.Pro77His)	L3MBTL2, L3MBTL2-AS1 (P77H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461975	NM_031488.5(L3MBTL2):c.232C>T (p.Arg78Cys)	L3MBTL2, L3MBTL2-AS1 (R78C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323030	NM_031488.5(L3MBTL2):c.518A>T (p.Asp173Val)	L3MBTL2-AS1, L3MBTL2 (D173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523392	NM_031488.5(L3MBTL2):c.557A>G (p.Lys186Arg)	L3MBTL2, L3MBTL2-AS1 (K186R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228901	NM_031488.5(L3MBTL2):c.575C>T (p.Ala192Val)	L3MBTL2-AS1, L3MBTL2 (A192V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269305	NM_031488.5(L3MBTL2):c.627T>A (p.Asp209Glu)	L3MBTL2 (D209E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492803	NM_031488.5(L3MBTL2):c.652G>C (p.Val218Leu)	L3MBTL2 (V218L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601877	NM_031488.5(L3MBTL2):c.697G>A (p.Ala233Thr)	L3MBTL2 (A233T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298174	NM_031488.5(L3MBTL2):c.703G>A (p.Val235Ile)	L3MBTL2 (V235I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777726	NM_031488.5(L3MBTL2):c.759C>T (p.Asp253=)	L3MBTL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2290563	NM_031488.5(L3MBTL2):c.808A>C (p.Ile270Leu)	L3MBTL2 (I270L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509935	NM_031488.5(L3MBTL2):c.874G>A (p.Asp292Asn)	L3MBTL2 (D292N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523373	NM_031488.5(L3MBTL2):c.899G>A (p.Arg300Gln)	L3MBTL2 (R300Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206293	NM_031488.5(L3MBTL2):c.901C>G (p.Leu301Val)	L3MBTL2 (L301V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410893	NM_031488.5(L3MBTL2):c.925G>A (p.Val309Met)	L3MBTL2 (V309M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 725796	NM_031488.5(L3MBTL2):c.1057C>T (p.Leu353=)	L3MBTL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2248277	NM_031488.5(L3MBTL2):c.1213A>G (p.Lys405Glu)	L3MBTL2 (K405E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371308	NM_031488.5(L3MBTL2):c.1231G>A (p.Val411Ile)	L3MBTL2 (V411I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298418	NM_031488.5(L3MBTL2):c.1310T>C (p.Ile437Thr)	L3MBTL2 (I437T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329113	NM_031488.5(L3MBTL2):c.1342G>A (p.Ala448Thr)	L3MBTL2 (A448T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224440	NM_031488.5(L3MBTL2):c.1393G>A (p.Gly465Arg)	L3MBTL2 (G465R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264725	NM_031488.5(L3MBTL2):c.1538A>G (p.Tyr513Cys)	L3MBTL2 (Y513C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555968	NM_031488.5(L3MBTL2):c.1670C>T (p.Thr557Met)	L3MBTL2 (T557M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486852	NM_031488.5(L3MBTL2):c.1771G>A (p.Val591Ile)	L3MBTL2 (V591I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591166	NM_031488.5(L3MBTL2):c.1819G>A (p.Ala607Thr)	L3MBTL2 (A607T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 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 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	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	A4GALT, ACO2 +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
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 441667	GRCh37/hg19 22q13.2(chr22:41568382-41673592)x3	CHADL, EP300 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 62