"Ambry Genetics"[submitter] AND "L3MBTL4"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2532705	NM_001330559.2(L3MBTL4):c.1819G>A (p.Ala607Thr)	L3MBTL4, LOC121725015 (A616T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2489142	NM_001330559.2(L3MBTL4):c.1801C>T (p.Leu601Phe)	L3MBTL4, LOC121725015 (L601F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2244457	NM_001330559.2(L3MBTL4):c.1694C>T (p.Ala565Val)	LOC121725015, L3MBTL4 (A565V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332646	NM_001330559.2(L3MBTL4):c.1534G>T (p.Gly512Cys)	L3MBTL4, LOC121725015 (G512C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2301975	NM_001330559.2(L3MBTL4):c.1499C>T (p.Thr500Met)	LOC121725015, L3MBTL4 (T509M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2331615	NM_001330559.2(L3MBTL4):c.1421T>C (p.Ile474Thr)	L3MBTL4 (I474T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377749	NM_001330559.2(L3MBTL4):c.1340A>G (p.Asn447Ser)	L3MBTL4 (N447S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554083	NM_001330559.2(L3MBTL4):c.1255G>A (p.Asp419Asn)	L3MBTL4 (D419N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600296	NM_001330559.2(L3MBTL4):c.1181G>A (p.Arg394His)	L3MBTL4 (R394H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476509	NM_001330559.2(L3MBTL4):c.1166A>G (p.His389Arg)	L3MBTL4 (H389R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549354	NM_001330559.2(L3MBTL4):c.1159A>G (p.Ile387Val)	L3MBTL4 (I387V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397513	NM_001330559.2(L3MBTL4):c.1117C>A (p.Leu373Ile)	L3MBTL4 (L373I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276797	NM_001330559.2(L3MBTL4):c.1112A>C (p.Lys371Thr)	L3MBTL4 (K371T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529750	NM_001330559.2(L3MBTL4):c.899T>C (p.Met300Thr)	L3MBTL4 (M300T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591384	NM_001330559.2(L3MBTL4):c.803A>T (p.Asn268Ile)	L3MBTL4 (N268I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329217	NM_001330559.2(L3MBTL4):c.785G>A (p.Gly262Asp)	L3MBTL4 (G262D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363982	NM_001330559.2(L3MBTL4):c.644C>T (p.Ala215Val)	L3MBTL4 (A215V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354609	NM_001330559.2(L3MBTL4):c.551C>T (p.Pro184Leu)	L3MBTL4 (P184L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329875	NM_001330559.2(L3MBTL4):c.502G>T (p.Ala168Ser)	L3MBTL4 (A168S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321488	NM_001330559.2(L3MBTL4):c.459G>C (p.Lys153Asn)	L3MBTL4 (K153N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319593	NM_001330559.2(L3MBTL4):c.418G>A (p.Gly140Arg)	L3MBTL4 (G140R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305896	NM_001330559.2(L3MBTL4):c.404A>G (p.Asp135Gly)	L3MBTL4 (D135G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300631	NM_001330559.2(L3MBTL4):c.374A>G (p.Tyr125Cys)	L3MBTL4 (Y125C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208164	NM_001330559.2(L3MBTL4):c.304T>A (p.Cys102Ser)	L3MBTL4 (C102S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529145	NM_001330559.2(L3MBTL4):c.267A>C (p.Arg89Ser)	L3MBTL4 (R89S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364331	NM_001330559.2(L3MBTL4):c.188C>T (p.Ala63Val)	L3MBTL4 (A63V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226343	NM_001330559.2(L3MBTL4):c.151G>T (p.Ala51Ser)	L3MBTL4 (A51S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288636	NM_001330559.2(L3MBTL4):c.103G>A (p.Asp35Asn)	L3MBTL4 (D35N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 28