ClinVar for MedGen (Select 209235) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338331	NM_002294.3(LAMP2):c.455del (p.Arg152fs)	LAMP2 (R152fs)	Deletion (frameshift variant)	Danon disease	GLikely pathogenic
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 3242527	Single allele	LAMP2	Deletion	Danon disease	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 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 2572582	NM_002294.3(LAMP2):c.183dup (p.Lys62Ter)	LAMP2 (K62*)	Duplication (nonsense)	Danon disease	GLikely pathogenic
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 2442806	NM_002294.3(LAMP2):c.313G>A (p.Ala105Thr)	LAMP2 (A105T)	Single nucleotide variant (missense variant)	Danon disease +1 more	GUncertain significance
Select item 2433397	NM_002294.3(LAMP2):c.449T>A (p.Leu150His)	LAMP2 (L150H)	Single nucleotide variant (missense variant)	Danon disease +1 more	GConflicting classifications of pathogenicity
Select item 2431233	NM_002294.3(LAMP2):c.413A>G (p.Asp138Gly)	LAMP2 (D138G)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2424392	NC_000023.10:g.(?_119565178)_(119581900_?)dup	LAMP2	Duplication	Danon disease	GUncertain significance
Select item 2424391	NC_000023.10:g.(?_119589192)_(119589445_?)dup	LAMP2	Duplication	Danon disease	GLikely pathogenic
Select item 2424390	NC_000023.10:g.(?_119565178)_(119576537_?)del	LAMP2	Deletion	Danon disease	GPathogenic
Select item 2424389	NC_000023.10:g.(?_119602941)_(119603024_?)del	LAMP2	Deletion	Danon disease	GPathogenic
Select item 2413523	NM_002294.3(LAMP2):c.1093+7A>G	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2413472	NM_002294.3(LAMP2):c.184-18A>G	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GUncertain significance
Select item 2201079	NM_002294.3(LAMP2):c.739A>G (p.Lys247Glu)	LAMP2 (K247E)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2200278	NM_002294.3(LAMP2):c.929-13C>G	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2197140	NM_002294.3(LAMP2):c.158G>T (p.Arg53Leu)	LAMP2 (R53L)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2193667	NM_002294.3(LAMP2):c.1093+10A>G	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2193098	NM_002294.3(LAMP2):c.581C>T (p.Thr194Ile)	LAMP2 (T194I)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2182537	NM_002294.3(LAMP2):c.200C>T (p.Ser67Leu)	LAMP2 (S67L)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2178404	NM_002294.3(LAMP2):c.1103G>A (p.Cys368Tyr)	LAMP2 (C368Y)	Single nucleotide variant (missense variant +1 more)	Danon disease	GUncertain significance
Select item 2166307	NM_002294.3(LAMP2):c.1094-19G>A	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2165737	NM_002294.3(LAMP2):c.1030C>G (p.Gln344Glu)	LAMP2 (Q344E)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2158342	NM_002294.3(LAMP2):c.987T>C (p.Tyr329=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2155365	NM_002294.3(LAMP2):c.65-20_65-18del	LAMP2	Microsatellite (intron variant)	Danon disease	GLikely benign
Select item 2151498	NM_002294.3(LAMP2):c.741+13A>G	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2145440	NM_002294.3(LAMP2):c.562C>T (p.Leu188=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2144636	NM_002294.3(LAMP2):c.685A>G (p.Asn229Asp)	LAMP2 (N229D)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2141536	NM_002294.3(LAMP2):c.965A>T (p.Asp322Val)	LAMP2 (D322V)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2130101	NM_002294.3(LAMP2):c.753dup (p.Ile252fs)	LAMP2 (I252fs)	Duplication (frameshift variant)	Danon disease	GPathogenic
Select item 2128806	NM_002294.3(LAMP2):c.697C>T (p.Leu233=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2127569	NM_002294.3(LAMP2):c.72_96del (p.Val24_Arg25insTer)	LAMP2	Deletion (frameshift variant)	Danon disease	GPathogenic
Select item 2123778	NM_002294.3(LAMP2):c.64+20C>T	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GLikely benign
Select item 2115970	NM_002294.3(LAMP2):c.393T>C (p.Asp131=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2109958	NM_002294.3(LAMP2):c.344C>T (p.Ser115Leu)	LAMP2 (S115L)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2105350	NM_002294.3(LAMP2):c.758A>C (p.Asn253Thr)	LAMP2 (N253T)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2090723	NM_002294.3(LAMP2):c.906C>T (p.Ser302=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GUncertain significance
Select item 2090013	NM_002294.3(LAMP2):c.73_74delinsTA (p.Arg25Ter)	LAMP2 (R25*)	Indel (nonsense)	Danon disease	GPathogenic
Select item 2087391	NM_002294.3(LAMP2):c.372A>G (p.Thr124=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease	GLikely benign
Select item 2087243	NM_002294.3(LAMP2):c.719A>C (p.Gln240Pro)	LAMP2 (Q240P)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance

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