LGMN[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 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	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ZFYVE21, ZNF839 +662 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)	Inborn genetic diseases	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 2349549	NM_005606.7(LGMN):c.1219G>A (p.Val407Met)	LGMN, LOC130056355 (V350M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2606533	NM_005606.7(LGMN):c.1087G>A (p.Val363Met)	LGMN (V363M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608427	NM_005606.7(LGMN):c.1049G>A (p.Arg350His)	LGMN (R350H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285010	NM_005606.7(LGMN):c.945G>A (p.Met315Ile)	LGMN (M315I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329415	NM_005606.7(LGMN):c.929T>C (p.Val310Ala)	LGMN (V310A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333584	NM_005606.7(LGMN):c.925G>A (p.Asp309Asn)	LGMN (D309N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259689	NM_005606.7(LGMN):c.919A>G (p.Ser307Gly)	LGMN (S307G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459948	NM_005606.7(LGMN):c.817A>C (p.Lys273Gln)	LGMN (K273Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229405	NM_005606.7(LGMN):c.799G>A (p.Val267Ile)	LGMN (V267I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410894	NM_005606.7(LGMN):c.779C>T (p.Ser260Leu)	LGMN (S260L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2287119	NM_005606.7(LGMN):c.554A>G (p.Tyr185Cys)	LGMN (Y185C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621752	NM_005606.7(LGMN):c.539G>A (p.Arg180Gln)	LGMN (R180Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2544766	NM_005606.7(LGMN):c.436A>C (p.Thr146Pro)	LGMN (T146P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514934	NM_005606.7(LGMN):c.325A>G (p.Thr109Ala)	LGMN (T109A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390083	NM_005606.7(LGMN):c.321T>G (p.Asp107Glu)	LGMN (D107E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469956	NM_005606.7(LGMN):c.310A>G (p.Thr104Ala)	LGMN (T104A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517883	NM_005606.7(LGMN):c.272A>G (p.Asn91Ser)	LGMN (N91S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228536	NM_005606.7(LGMN):c.232G>C (p.Glu78Gln)	LGMN (E78Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488048	NM_005606.7(LGMN):c.152A>G (p.His51Arg)	LGMN (H51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599193	NM_005606.7(LGMN):c.16G>T (p.Ala6Ser)	LGMN (A6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, CPSF2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	SLC24A4, TC2N +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	ABCD4, ABHD12B +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	BTBD6, MIR369 +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)	ABCD4, ABHD12B +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	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50