ClinVar for Gene (Select 3920) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370387	GRCh38/hg38 Xq24-25(chrX:119043046-123885987)x2	AKAP14, ATP1B4 +108 more	Copy number gain	Intellectual disability	GPathogenic
Select item 3370197	NM_002294.3(LAMP2):c.1093+2462C>T	LAMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3368242	NM_002294.3(LAMP2):c.1093+2490G>A	LAMP2 (A383T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3359586	NM_002294.3(LAMP2):c.1141G>T (p.Val381Leu)	LAMP2 (V381L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3345095	NM_002294.3(LAMP2):c.43G>C (p.Val15Leu)	LAMP2 (V15L)	Single nucleotide variant (missense variant)	LAMP2-related disorder	GUncertain significance
Select item 3342480	NM_002294.3(LAMP2):c.789C>T (p.Gly263=)	LAMP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3340319	NM_002294.3(LAMP2):c.854_859del (p.Val285_Phe286del)	LAMP2	Deletion (inframe_indel)	not provided	GLikely pathogenic
Select item 3338331	NM_002294.3(LAMP2):c.455del (p.Arg152fs)	LAMP2 (R152fs)	Deletion (frameshift variant)	Danon disease	GLikely pathogenic
Select item 3290084	NM_002294.3(LAMP2):c.627T>A (p.Thr209=)	LAMP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3290083	NM_002294.3(LAMP2):c.493G>T (p.Val165Phe)	LAMP2 (V165F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3290082	NM_002294.3(LAMP2):c.1214C>A (p.Ala405Asp)	LAMP2 (A405D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3290081	NM_002294.3(LAMP2):c.156A>G (p.Val52=)	LAMP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3251932	NM_002294.3(LAMP2):c.864+5G>A	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely pathogenic
Select item 3244116	NC_000023.10:g.(?_119581751)_(119583728_?)del	LAMP2	Deletion	Danon disease	GLikely pathogenic
Select item 3244105	NC_000023.10:g.(?_119565178)_(119575769_?)dup	LAMP2	Duplication	Danon disease	GUncertain significance
Select item 3244094	NC_000023.10:g.(?_119575565)_(119660731_?)dup	CUL4B, LAMP2	Duplication	Danon disease	GUncertain significance
Select item 3244083	NC_000023.10:g.(?_119575565)_(119576537_?)del	LAMP2	Deletion	Danon disease	GPathogenic
Select item 3244072	NC_000023.10:g.(?_119576434)_(119603024_?)del	LAMP2	Deletion	Danon disease	GPathogenic
Select item 3244061	NC_000023.10:g.(?_119580140)_(119580302_?)del	LAMP2	Deletion	Danon disease	GPathogenic
Select item 3244050	NC_000023.10:g.(?_119565178)_(119603024_?)del	LAMP2	Deletion	Danon disease	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242527	Single allele	LAMP2	Deletion	Danon disease	GPathogenic
Select item 3222068	NM_002294.3(LAMP2):c.921T>A (p.Asn307Lys)	LAMP2 (N307K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222067	NM_002294.3(LAMP2):c.74G>C (p.Arg25Pro)	LAMP2 (R25P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3222066	NM_002294.3(LAMP2):c.65-5T>G	LAMP2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222065	NM_002294.3(LAMP2):c.21C>A (p.Phe7Leu)	LAMP2 (F7L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3222064	NM_002294.3(LAMP2):c.1117G>T (p.Asp373Tyr)	LAMP2 (D373Y)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3046646	NM_002294.3(LAMP2):c.12C>T (p.Phe4=)	LAMP2	Single nucleotide variant (synonymous variant)	LAMP2-related disorder	GLikely benign
Select item 3045217	NM_002294.3(LAMP2):c.-8G>C	LAMP2	Single nucleotide variant (5 prime UTR variant)	LAMP2-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3018603	NM_002294.3(LAMP2):c.397+19T>C	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 3009792	NM_002294.3(LAMP2):c.557-10C>G	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 3000297	NM_002294.3(LAMP2):c.1175T>C (p.Val392Ala)	LAMP2 (V392A)	Single nucleotide variant (missense variant +1 more)	Danon disease	GUncertain significance
Select item 3000142	NM_002294.3(LAMP2):c.281C>T (p.Pro94Leu)	LAMP2 (P94L)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2986801	NM_002294.3(LAMP2):c.80A>T (p.Tyr27Phe)	LAMP2 (Y27F)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2984199	NM_002294.3(LAMP2):c.928+8A>T	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2977721	NM_002294.3(LAMP2):c.636T>C (p.Pro212=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2970111	NM_002294.3(LAMP2):c.387T>C (p.Ala129=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2962953	NM_002294.3(LAMP2):c.586A>G (p.Thr196Ala)	LAMP2 (T196A)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2960016	NM_002294.3(LAMP2):c.1093+5G>A	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GUncertain significance
Select item 2910489	NM_002294.3(LAMP2):c.52T>C (p.Cys18Arg)	LAMP2 (C18R)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2908830	NM_002294.3(LAMP2):c.1009G>C (p.Val337Leu)	LAMP2 (V337L)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2899818	NM_002294.3(LAMP2):c.850T>C (p.Phe284Leu)	LAMP2 (F284L)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2899033	NM_002294.3(LAMP2):c.397+16del	LAMP2	Deletion (intron variant)	Danon disease	GLikely benign
Select item 2898726	NM_002294.3(LAMP2):c.455G>A (p.Arg152Lys)	LAMP2 (R152K)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2897725	NM_002294.3(LAMP2):c.865-18A>T	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2897446	NM_002294.3(LAMP2):c.398-14A>G	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2889901	NM_002294.3(LAMP2):c.1033A>G (p.Ile345Val)	LAMP2 (I345V)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2880816	NM_002294.3(LAMP2):c.382G>T (p.Asp128Tyr)	LAMP2 (D128Y)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2879635	NM_002294.3(LAMP2):c.1093+11A>G	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2872047	NM_002294.3(LAMP2):c.211A>G (p.Thr71Ala)	LAMP2 (T71A)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2866874	NM_002294.3(LAMP2):c.152_153del (p.Thr51fs)	LAMP2 (T51fs)	Microsatellite (frameshift variant)	Danon disease	GPathogenic
Select item 2865397	NM_002294.3(LAMP2):c.261A>G (p.Lys87=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2850437	NM_002294.3(LAMP2):c.742-8T>C	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2850235	NM_002294.3(LAMP2):c.88G>T (p.Glu30Ter)	LAMP2 (E30*)	Single nucleotide variant (nonsense)	Danon disease	GPathogenic
Select item 2843286	NM_002294.3(LAMP2):c.928+5G>A	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GUncertain significance
Select item 2841248	NM_002294.3(LAMP2):c.973C>G (p.Leu325Val)	LAMP2 (L325V)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2839697	NM_002294.3(LAMP2):c.581C>G (p.Thr194Ser)	LAMP2 (T194S)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2838462	NM_002294.3(LAMP2):c.741+6G>A	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GUncertain significance
Select item 2803073	NM_002294.3(LAMP2):c.463A>G (p.Ser155Gly)	LAMP2 (S155G)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2799200	NM_002294.3(LAMP2):c.579A>G (p.Lys193=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2789106	NM_002294.3(LAMP2):c.876C>T (p.Asn292=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2786657	NM_002294.3(LAMP2):c.928+18C>T	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2775507	NM_002294.3(LAMP2):c.45T>A (p.Val15=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2762825	NM_002294.3(LAMP2):c.123C>A (p.Cys41Ter)	LAMP2 (C41*)	Single nucleotide variant (nonsense)	Danon disease	GPathogenic
Select item 2755105	NM_002294.3(LAMP2):c.222T>A (p.Tyr74Ter)	LAMP2 (Y74*)	Single nucleotide variant (nonsense)	Danon disease	GPathogenic
Select item 2754575	NM_002294.3(LAMP2):c.929-4G>C	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2754143	NM_002294.3(LAMP2):c.713G>C (p.Gly238Ala)	LAMP2 (G238A)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2742072	NM_002294.3(LAMP2):c.741+10_741+11insTT	LAMP2	Insertion (intron variant)	Danon disease	GLikely benign
Select item 2737362	NM_002294.3(LAMP2):c.124del (p.Leu42fs)	LAMP2 (L42fs)	Deletion (frameshift variant)	Danon disease	GPathogenic
Select item 2735842	NM_002294.3(LAMP2):c.991T>C (p.Cys331Arg)	LAMP2 (C331R)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2728312	NM_002294.3(LAMP2):c.589G>A (p.Val197Met)	LAMP2 (V197M)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2727067	NM_002294.3(LAMP2):c.198_207del (p.Ile66fs)	LAMP2 (I66fs)	Deletion (frameshift variant)	Danon disease	GPathogenic
Select item 2723769	NM_002294.3(LAMP2):c.120T>C (p.Thr40=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2723325	NM_002294.3(LAMP2):c.465T>C (p.Ser155=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2709050	NM_002294.3(LAMP2):c.907A>T (p.Met303Leu)	LAMP2 (M303L)	Single nucleotide variant (missense variant)	Danon disease	GLikely benign
Select item 2708755	NM_002294.3(LAMP2):c.183_183+4del	LAMP2	Deletion (splice donor variant)	Danon disease	GLikely pathogenic
Select item 2699819	NM_002294.3(LAMP2):c.653del (p.Pro218fs)	LAMP2 (P218fs)	Deletion (frameshift variant)	Danon disease	GPathogenic
Select item 2697727	NM_002294.3(LAMP2):c.557-11G>A	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2695684	NM_002294.3(LAMP2):c.334G>A (p.Asp112Asn)	LAMP2 (D112N)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2689360	NM_002294.3(LAMP2):c.937A>C (p.Ile313Leu)	LAMP2 (I313L)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2661329	NM_002294.3(LAMP2):c.46C>T (p.Leu16=)	LAMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661328	NM_002294.3(LAMP2):c.1093+2503G>A	LAMP2 (G387D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661327	NM_002294.3(LAMP2):c.1160G>T (p.Gly387Val)	LAMP2 (G387V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661326	NM_002294.3(LAMP2):c.*1673G>T	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2626685	NM_002294.3(LAMP2):c.9C>T (p.Cys3=)	LAMP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 2582650	NM_002294.3(LAMP2):c.595C>T (p.Pro199Ser)	LAMP2 (P199S)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2577371	NM_002294.3(LAMP2):c.1024G>A (p.Ala342Thr)	LAMP2 (A342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572582	NM_002294.3(LAMP2):c.183dup (p.Lys62Ter)	LAMP2 (K62*)	Duplication (nonsense)	Danon disease	GLikely pathogenic
Select item 2565110	NM_002294.3(LAMP2):c.45T>G (p.Val15=)	LAMP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2507134	NM_002294.3(LAMP2):c.1084T>C (p.Tyr362His)	LAMP2 (Y362H)	Single nucleotide variant (missense variant)	Danon disease +1 more	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2500595	NM_002294.3(LAMP2):c.1093+2581A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance

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