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

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2405702	NM_005606.7(LGMN):c.1273A>G (p.Met425Val)	LGMN (M368V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290558	NM_005606.7(LGMN):c.1237G>C (p.Glu413Gln)	LGMN, LOC130056355 (E356Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349549	NM_005606.7(LGMN):c.1219G>A (p.Val407Met)	LGMN, LOC130056355 (V350M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118537	NM_005606.7(LGMN):c.1105G>A (p.Glu369Lys)	LGMN (E369K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606533	NM_005606.7(LGMN):c.1087G>A (p.Val363Met)	LGMN (V363M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608427	NM_005606.7(LGMN):c.1049G>A (p.Arg350His)	LGMN (R350H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118536	NM_005606.7(LGMN):c.1010G>A (p.Arg337Gln)	LGMN (R337Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285010	NM_005606.7(LGMN):c.945G>A (p.Met315Ile)	LGMN (M315I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329415	NM_005606.7(LGMN):c.929T>C (p.Val310Ala)	LGMN (V310A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333584	NM_005606.7(LGMN):c.925G>A (p.Asp309Asn)	LGMN (D309N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259689	NM_005606.7(LGMN):c.919A>G (p.Ser307Gly)	LGMN (S307G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290556	NM_005606.7(LGMN):c.902A>T (p.His301Leu)	LGMN (H301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118546	NM_005606.7(LGMN):c.884C>T (p.Pro295Leu)	LGMN (P295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118545	NM_005606.7(LGMN):c.877C>T (p.Pro293Ser)	LGMN (P293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459948	NM_005606.7(LGMN):c.817A>C (p.Lys273Gln)	LGMN (K273Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229405	NM_005606.7(LGMN):c.799G>A (p.Val267Ile)	LGMN (V267I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410894	NM_005606.7(LGMN):c.779C>T (p.Ser260Leu)	LGMN (S260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118543	NM_005606.7(LGMN):c.770T>C (p.Leu257Pro)	LGMN (L257P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291888	NM_005606.7(LGMN):c.757A>G (p.Lys253Glu)	LGMN (K253E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118542	NM_005606.7(LGMN):c.632A>C (p.Asn211Thr)	LGMN (N211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287119	NM_005606.7(LGMN):c.554A>G (p.Tyr185Cys)	LGMN (Y185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621752	NM_005606.7(LGMN):c.539G>A (p.Arg180Gln)	LGMN (R180Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544766	NM_005606.7(LGMN):c.436A>C (p.Thr146Pro)	LGMN (T146P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290557	NM_005606.7(LGMN):c.421G>A (p.Val141Met)	LGMN (V141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514934	NM_005606.7(LGMN):c.325A>G (p.Thr109Ala)	LGMN (T109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390083	NM_005606.7(LGMN):c.321T>G (p.Asp107Glu)	LGMN (D107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469956	NM_005606.7(LGMN):c.310A>G (p.Thr104Ala)	LGMN (T104A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118540	NM_005606.7(LGMN):c.299C>T (p.Pro100Leu)	LGMN (P100L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517883	NM_005606.7(LGMN):c.272A>G (p.Asn91Ser)	LGMN (N91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118539	NM_005606.7(LGMN):c.256G>A (p.Val86Met)	LGMN (V86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228536	NM_005606.7(LGMN):c.232G>C (p.Glu78Gln)	LGMN (E78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118538	NM_005606.7(LGMN):c.172C>T (p.Arg58Cys)	LGMN (R58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488048	NM_005606.7(LGMN):c.152A>G (p.His51Arg)	LGMN (H51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118541	NM_005606.7(LGMN):c.44T>C (p.Ile15Thr)	LGMN (I15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599193	NM_005606.7(LGMN):c.16G>T (p.Ala6Ser)	LGMN (A6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 35