LGMN[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 58335	GRCh38/hg38 14q32.12(chr14:92694709-92905919)x3	GOLGA5, LGMN +9 more	Copy number gain	See cases	GUncertain significance
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 781150	NM_005606.7(LGMN):c.1259+9T>C	LGMN, LOC130056355	Single nucleotide variant (intron variant)	not provided	GBenign
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 623456	NM_005606.7(LGMN):c.1211A>G (p.His404Arg)	LGMN (H404R +1 more)	Single nucleotide variant (missense variant +1 more)	High myopia	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 789819	NM_005606.7(LGMN):c.765C>T (p.Tyr255=)	LGMN	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441942	GRCh37/hg19 14q32.12(chr14:93001577-93605662)x3	CHGA, GOLGA5 +3 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 63