L3MBTL4[gene] and "single gene"[properties] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2331615	NM_001330559.2(L3MBTL4):c.1421T>C (p.Ile474Thr)	L3MBTL4 (I474T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377749	NM_001330559.2(L3MBTL4):c.1340A>G (p.Asn447Ser)	L3MBTL4 (N447S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554083	NM_001330559.2(L3MBTL4):c.1255G>A (p.Asp419Asn)	L3MBTL4 (D419N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600296	NM_001330559.2(L3MBTL4):c.1181G>A (p.Arg394His)	L3MBTL4 (R394H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476509	NM_001330559.2(L3MBTL4):c.1166A>G (p.His389Arg)	L3MBTL4 (H389R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549354	NM_001330559.2(L3MBTL4):c.1159A>G (p.Ile387Val)	L3MBTL4 (I387V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397513	NM_001330559.2(L3MBTL4):c.1117C>A (p.Leu373Ile)	L3MBTL4 (L373I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276797	NM_001330559.2(L3MBTL4):c.1112A>C (p.Lys371Thr)	L3MBTL4 (K371T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117282	NM_001330559.2(L3MBTL4):c.1053C>G (p.Ile351Met)	L3MBTL4 (I351M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117295	NM_001330559.2(L3MBTL4):c.966T>G (p.Asp322Glu)	L3MBTL4 (D322E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117294	NM_001330559.2(L3MBTL4):c.955G>A (p.Val319Ile)	L3MBTL4 (V319I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2529750	NM_001330559.2(L3MBTL4):c.899T>C (p.Met300Thr)	L3MBTL4 (M300T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591384	NM_001330559.2(L3MBTL4):c.803A>T (p.Asn268Ile)	L3MBTL4 (N268I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329217	NM_001330559.2(L3MBTL4):c.785G>A (p.Gly262Asp)	L3MBTL4 (G262D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363982	NM_001330559.2(L3MBTL4):c.644C>T (p.Ala215Val)	L3MBTL4 (A215V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117292	NM_001330559.2(L3MBTL4):c.642A>G (p.Ile214Met)	L3MBTL4 (I214M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117291	NM_001330559.2(L3MBTL4):c.634G>T (p.Ala212Ser)	L3MBTL4 (A212S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117290	NM_001330559.2(L3MBTL4):c.615C>A (p.Asn205Lys)	L3MBTL4 (N205K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117289	NM_001330559.2(L3MBTL4):c.601G>A (p.Val201Met)	L3MBTL4 (V201M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354609	NM_001330559.2(L3MBTL4):c.551C>T (p.Pro184Leu)	L3MBTL4 (P184L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329875	NM_001330559.2(L3MBTL4):c.502G>T (p.Ala168Ser)	L3MBTL4 (A168S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321488	NM_001330559.2(L3MBTL4):c.459G>C (p.Lys153Asn)	L3MBTL4 (K153N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319593	NM_001330559.2(L3MBTL4):c.418G>A (p.Gly140Arg)	L3MBTL4 (G140R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305896	NM_001330559.2(L3MBTL4):c.404A>G (p.Asp135Gly)	L3MBTL4 (D135G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300631	NM_001330559.2(L3MBTL4):c.374A>G (p.Tyr125Cys)	L3MBTL4 (Y125C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117287	NM_001330559.2(L3MBTL4):c.304T>G (p.Cys102Gly)	L3MBTL4 (C102G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208164	NM_001330559.2(L3MBTL4):c.304T>A (p.Cys102Ser)	L3MBTL4 (C102S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529145	NM_001330559.2(L3MBTL4):c.267A>C (p.Arg89Ser)	L3MBTL4 (R89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364331	NM_001330559.2(L3MBTL4):c.188C>T (p.Ala63Val)	L3MBTL4 (A63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226343	NM_001330559.2(L3MBTL4):c.151G>T (p.Ala51Ser)	L3MBTL4 (A51S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117283	NM_001330559.2(L3MBTL4):c.148G>A (p.Gly50Arg)	L3MBTL4 (G50R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288636	NM_001330559.2(L3MBTL4):c.103G>A (p.Asp35Asn)	L3MBTL4 (D35N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117293	NM_001330559.2(L3MBTL4):c.64G>A (p.Gly22Arg)	L3MBTL4 (G22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 974742	NC_000018.10:g.6335543_6430945dup	L3MBTL4	Duplication	Megacolon	GUncertain significance
Select item 929337	GRCh37/hg19 18p11.31(chr18:6357138-6790732)x3	L3MBTL4	Copy number gain	See cases	GUncertain significance
Select item 815969	GRCh37/hg19 18p11.31(chr18:6349881-6834388)x3	L3MBTL4	Copy number gain	not provided	GLikely benign

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Items: 36