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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2392664	NM_001136049.3(LMLN):c.50G>A (p.Gly17Asp)	LMLN (G17D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314832	NM_001136049.3(LMLN):c.64C>T (p.Arg22Cys)	LMLN (R22C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206431	NM_001136049.3(LMLN):c.64C>G (p.Arg22Gly)	LMLN (R22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328459	NM_001136049.3(LMLN):c.74G>C (p.Gly25Ala)	LMLN (G25A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480335	NM_001136049.3(LMLN):c.163C>T (p.Pro55Ser)	LMLN (P55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290957	NM_001136049.3(LMLN):c.213T>G (p.His71Gln)	LMLN (H71Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222484	NM_001136049.3(LMLN):c.380G>A (p.Arg127Gln)	LMLN (R127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290956	NM_001136049.3(LMLN):c.392C>T (p.Thr131Ile)	LMLN (T131I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119303	NM_001136049.3(LMLN):c.433C>T (p.Arg145Trp)	LMLN (R145W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290954	NM_001136049.3(LMLN):c.502A>G (p.Ile168Val)	LMLN (I168V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3119304	NM_001136049.3(LMLN):c.515A>G (p.Glu172Gly)	LMLN (E172G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495992	NM_001136049.3(LMLN):c.709A>G (p.Ile237Val)	LMLN (I237V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282853	NM_001136049.3(LMLN):c.719A>T (p.Tyr240Phe)	LMLN (Y240F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119305	NM_001136049.3(LMLN):c.968G>A (p.Arg323Gln)	LMLN (R323Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119297	NM_001136049.3(LMLN):c.1106A>G (p.Asn369Ser)	LMLN (N369S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488353	NM_001136049.3(LMLN):c.1177C>G (p.Arg393Gly)	LMLN (R393G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119298	NM_001136049.3(LMLN):c.1196T>C (p.Met399Thr)	LMLN (M399T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119299	NM_001136049.3(LMLN):c.1267T>G (p.Cys423Gly)	LMLN (C423G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3119300	NM_001136049.3(LMLN):c.1657G>A (p.Val553Ile)	LMLN (V553I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204926	NM_001136049.3(LMLN):c.1787C>G (p.Thr596Ser)	LMLN (T559S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267216	NM_001136049.3(LMLN):c.1823C>G (p.Pro608Arg)	LMLN (P571R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119301	NM_001136049.3(LMLN):c.1856A>T (p.Asp619Val)	LMLN (D582V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119302	NM_001136049.3(LMLN):c.1940G>A (p.Arg647Gln)	LMLN (R610Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238269	NM_001136049.3(LMLN):c.1942G>A (p.Ala648Thr)	LMLN (A611T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281233	NM_001136049.3(LMLN):c.1967G>C (p.Cys656Ser)	LMLN, LMLN-AS1 (C619S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 25