L3MBTL1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 3048114	NM_001377303.1(L3MBTL1):c.82G>A (p.Gly28Arg)	L3MBTL1 (G28R +1 more)	Single nucleotide variant (missense variant +2 more)	L3MBTL1-related condition	GLikely benign
Select item 3032917	NM_001377303.1(L3MBTL1):c.343C>T (p.Pro115Ser)	L3MBTL1 (P115S +1 more)	Single nucleotide variant (missense variant +2 more)	L3MBTL1-related condition	GLikely benign
Select item 3055189	NM_001377303.1(L3MBTL1):c.361-57G>T	L3MBTL1 (E12*)	Single nucleotide variant (nonsense +2 more)	L3MBTL1-related condition	GLikely benign
Select item 2609250	NM_001377303.1(L3MBTL1):c.431A>G (p.Gln144Arg)	L3MBTL1 (Q144R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3046334	NM_001377303.1(L3MBTL1):c.481G>A (p.Glu161Lys)	L3MBTL1 (E139K +3 more)	Single nucleotide variant (missense variant +1 more)	L3MBTL1-related condition	GLikely benign
Select item 2288410	NM_001377303.1(L3MBTL1):c.516G>C (p.Gln172His)	L3MBTL1 (Q150H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512413	NM_001377303.1(L3MBTL1):c.529G>C (p.Asp177His)	L3MBTL1 (D155H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204171	NM_001377303.1(L3MBTL1):c.548C>T (p.Pro183Leu)	L3MBTL1 (P183L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716363	NM_001377303.1(L3MBTL1):c.658G>A (p.Val220Ile)	L3MBTL1 (V198I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2492437	NM_001377303.1(L3MBTL1):c.674C>T (p.Ser225Phe)	L3MBTL1 (S203F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652345	NM_001377303.1(L3MBTL1):c.678A>G (p.Ser226=)	L3MBTL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2236989	NM_001377303.1(L3MBTL1):c.703C>T (p.Leu235Phe)	L3MBTL1 (L145F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294016	NM_001377303.1(L3MBTL1):c.830C>G (p.Pro277Arg)	L3MBTL1 (P147R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384411	NM_001377303.1(L3MBTL1):c.890C>T (p.Ser297Leu)	L3MBTL1 (S167L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300072	NM_001377303.1(L3MBTL1):c.922A>G (p.Ile308Val)	L3MBTL1 (I178V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2370184	NM_001377303.1(L3MBTL1):c.989T>C (p.Leu330Pro)	L3MBTL1 (L308P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607302	NM_001377303.1(L3MBTL1):c.1060T>C (p.Cys354Arg)	L3MBTL1 (C332R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590266	NM_001377303.1(L3MBTL1):c.1100A>T (p.Glu367Val)	L3MBTL1 (E277V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293163	NM_001377303.1(L3MBTL1):c.1106A>G (p.His369Arg)	L3MBTL1 (H239R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541538	NM_001377303.1(L3MBTL1):c.1243G>A (p.Ala415Thr)	L3MBTL1 (A285T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319825	NM_001377303.1(L3MBTL1):c.1360G>A (p.Val454Met)	L3MBTL1 (V454M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529749	NM_001377303.1(L3MBTL1):c.1438T>G (p.Cys480Gly)	L3MBTL1 (C350G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556813	NM_001377303.1(L3MBTL1):c.1451G>A (p.Ser484Asn)	L3MBTL1 (S394N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299378	NM_001377303.1(L3MBTL1):c.1454C>A (p.Pro485His)	L3MBTL1 (P395H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542954	NM_001377303.1(L3MBTL1):c.1531A>G (p.Asn511Asp)	L3MBTL1 (N489D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 734217	NM_001377303.1(L3MBTL1):c.1533C>T (p.Asn511=)	L3MBTL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2481200	NM_001377303.1(L3MBTL1):c.1639G>T (p.Ala547Ser)	L3MBTL1 (A457S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356771	NM_001377303.1(L3MBTL1):c.1783G>A (p.Gly595Ser)	L3MBTL1 (G573S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215273	NM_001377303.1(L3MBTL1):c.1799C>G (p.Thr600Arg)	L3MBTL1 (T510R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215274	NM_001377303.1(L3MBTL1):c.1807C>T (p.Pro603Ser)	L3MBTL1 (P513S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485030	NM_001377303.1(L3MBTL1):c.1820C>T (p.Pro607Leu)	L3MBTL1 (P477L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349989	NM_001377303.1(L3MBTL1):c.1897A>G (p.Arg633Gly)	L3MBTL1 (R503G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609711	NM_001377303.1(L3MBTL1):c.1936A>C (p.Thr646Pro)	L3MBTL1 (T646P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282987	NM_001377303.1(L3MBTL1):c.1978A>C (p.Thr660Pro)	L3MBTL1 (T638P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3047449	NM_001377303.1(L3MBTL1):c.2018G>A (p.Arg673Lys)	L3MBTL1 (R543K +4 more)	Single nucleotide variant (missense variant +1 more)	L3MBTL1-related condition	GLikely benign
Select item 986171	NM_001377303.1(L3MBTL1):c.2041G>T (p.Glu681Ter)	L3MBTL1 (E551* +4 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2482919	NM_001377303.1(L3MBTL1):c.2119G>A (p.Gly707Ser)	L3MBTL1 (G707S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353370	NM_001377303.1(L3MBTL1):c.2131C>T (p.Arg711Cys)	L3MBTL1 (R581C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313553	NM_001377303.1(L3MBTL1):c.2147G>C (p.Arg716Pro)	L3MBTL1 (R586P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263515	NM_001377303.1(L3MBTL1):c.2149A>G (p.Lys717Glu)	L3MBTL1 (K587E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2428688	NM_001377303.1(L3MBTL1):c.2222C>T (p.Ser741Leu)	L3MBTL1 (S611L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2274110	NM_001377303.1(L3MBTL1):c.2279C>G (p.Pro760Arg)	L3MBTL1 (P738R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508390	NM_001377303.1(L3MBTL1):c.2326G>A (p.Asp776Asn)	L3MBTL1 (D686N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487832	NM_001377303.1(L3MBTL1):c.2357C>T (p.Thr786Ile)	L3MBTL1 (T786I +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2233538	NM_001377303.1(L3MBTL1):c.2465T>C (p.Leu822Pro)	L3MBTL1 (L732P +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2469894	NM_001377303.1(L3MBTL1):c.2519A>T (p.His840Leu)	L3MBTL1 (H750L +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 687561	GRCh37/hg19 20q13.11-13.12(chr20:42087848-42275167)x1	IFT52, L3MBTL1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 52