ClinVar for MedGen (Select 209235) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25725821.	NM_002294.3(LAMP2):c.183dup (p.Lys62Ter) GRCh37: ChrX:119590505-119590506 GRCh38: ChrX:120456650-120456651	LAMP2	K62*	Danon disease	Likely pathogenic	criteria provided, single submitter
Select item 24333972.	NM_002294.3(LAMP2):c.449T>A (p.Leu150His) GRCh37: ChrX:119582932 GRCh38: ChrX:120449077	LAMP2	L150H	Danon disease	Uncertain significance (Mar 18, 2019)	criteria provided, single submitter
Select item 24312333.	NM_002294.3(LAMP2):c.413A>G (p.Asp138Gly) GRCh37: ChrX:119582968 GRCh38: ChrX:120449113	LAMP2	D138G	Danon disease	Uncertain significance	no assertion criteria provided
Select item 24243924.	NC_000023.10:g.(?_119565178)_(119581900_?)dup GRCh37: ChrX:119565178-119581900	LAMP2		Danon disease	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 24243915.	NC_000023.10:g.(?_119589192)_(119589445_?)dup GRCh37: ChrX:119589192-119589445	LAMP2		Danon disease	Likely pathogenic (Aug 27, 2022)	criteria provided, single submitter
Select item 24243906.	NC_000023.10:g.(?_119565178)_(119576537_?)del GRCh37: ChrX:119565178-119576537	LAMP2		Danon disease	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 24243897.	NC_000023.10:g.(?_119602941)_(119603024_?)del GRCh37: ChrX:119602941-119603024	LAMP2		Danon disease	Pathogenic (May 28, 2022)	criteria provided, single submitter
Select item 24135238.	NM_002294.3(LAMP2):c.1093+7A>G GRCh37: ChrX:119575578 GRCh38: ChrX:120441723	LAMP2		Danon disease	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 24134729.	NM_002294.3(LAMP2):c.184-18A>G GRCh37: ChrX:119589443 GRCh38: ChrX:120455588	LAMP2		Danon disease	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 220107910.	NM_002294.3(LAMP2):c.739A>G (p.Lys247Glu) GRCh37: ChrX:119581698 GRCh38: ChrX:120447843	LAMP2	K247E	Danon disease	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 220027811.	NM_002294.3(LAMP2):c.929-13C>G GRCh37: ChrX:119575762 GRCh38: ChrX:120441907	LAMP2		Danon disease	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 219714012.	NM_002294.3(LAMP2):c.158G>T (p.Arg53Leu) GRCh37: ChrX:119590531 GRCh38: ChrX:120456676	LAMP2	R53L	Danon disease	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 219366713.	NM_002294.3(LAMP2):c.1093+10A>G GRCh37: ChrX:119575575 GRCh38: ChrX:120441720	LAMP2		Danon disease	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 219309814.	NM_002294.3(LAMP2):c.581C>T (p.Thr194Ile) GRCh37: ChrX:119581856 GRCh38: ChrX:120448001	LAMP2	T194I	Danon disease	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 218253715.	NM_002294.3(LAMP2):c.200C>T (p.Ser67Leu) GRCh37: ChrX:119589409 GRCh38: ChrX:120455554	LAMP2	S67L	Danon disease	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 217840416.	NM_002294.3(LAMP2):c.1103G>A (p.Cys368Tyr) GRCh37: ChrX:119565308 GRCh38: ChrX:120431453	LAMP2	C368Y	Danon disease	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 216630717.	NM_002294.3(LAMP2):c.1094-19G>A GRCh37: ChrX:119565336 GRCh38: ChrX:120431481	LAMP2		Danon disease	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 216573718.	NM_002294.3(LAMP2):c.1030C>G (p.Gln344Glu) GRCh37: ChrX:119575648 GRCh38: ChrX:120441793	LAMP2	Q344E	Danon disease	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 215834219.	NM_002294.3(LAMP2):c.987T>C (p.Tyr329=) GRCh37: ChrX:119575691 GRCh38: ChrX:120441836	LAMP2		Danon disease	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 215536520.	NM_002294.3(LAMP2):c.65-20_65-18del GRCh37: ChrX:119590642-119590644 GRCh38: ChrX:120456787-120456789	LAMP2		Danon disease	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 215149821.	NM_002294.3(LAMP2):c.741+13A>G GRCh37: ChrX:119581683 GRCh38: ChrX:120447828	LAMP2		Danon disease	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 214544022.	NM_002294.3(LAMP2):c.562C>T (p.Leu188=) GRCh37: ChrX:119581875 GRCh38: ChrX:120448020	LAMP2		Danon disease	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 214463623.	NM_002294.3(LAMP2):c.685A>G (p.Asn229Asp) GRCh37: ChrX:119581752 GRCh38: ChrX:120447897	LAMP2	N229D	Danon disease	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214153624.	NM_002294.3(LAMP2):c.965A>T (p.Asp322Val) GRCh37: ChrX:119575713 GRCh38: ChrX:120441858	LAMP2	D322V	Danon disease	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 213010125.	NM_002294.3(LAMP2):c.753dup (p.Ile252fs) GRCh37: ChrX:119580270-119580271 GRCh38: ChrX:120446415-120446416	LAMP2	I252fs	Danon disease	Pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 212880626.	NM_002294.3(LAMP2):c.697C>T (p.Leu233=) GRCh37: ChrX:119581740 GRCh38: ChrX:120447885	LAMP2		Danon disease	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 212756927.	NM_002294.3(LAMP2):c.72_96del (p.Val24_Arg25insTer) GRCh37: ChrX:119590593-119590617 GRCh38: ChrX:120456738-120456762	LAMP2		Danon disease	Pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 212377828.	NM_002294.3(LAMP2):c.64+20C>T GRCh37: ChrX:119602941 GRCh38: ChrX:120469086	LAMP2		Danon disease	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 211597029.	NM_002294.3(LAMP2):c.393T>C (p.Asp131=) GRCh37: ChrX:119589216 GRCh38: ChrX:120455361	LAMP2		Danon disease	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 210995830.	NM_002294.3(LAMP2):c.344C>T (p.Ser115Leu) GRCh37: ChrX:119589265 GRCh38: ChrX:120455410	LAMP2	S115L	Danon disease	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210535031.	NM_002294.3(LAMP2):c.758A>C (p.Asn253Thr) GRCh37: ChrX:119580266 GRCh38: ChrX:120446411	LAMP2	N253T	Danon disease	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 209072332.	NM_002294.3(LAMP2):c.906C>T (p.Ser302=) GRCh37: ChrX:119576476 GRCh38: ChrX:120442621	LAMP2		Danon disease	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 209001333.	NM_002294.3(LAMP2):c.73_74delinsTA (p.Arg25Ter) GRCh37: ChrX:119590615-119590616 GRCh38: ChrX:120456760-120456761	LAMP2	R25*	Danon disease	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 208739134.	NM_002294.3(LAMP2):c.372A>G (p.Thr124=) GRCh37: ChrX:119589237 GRCh38: ChrX:120455382	LAMP2		Danon disease	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 208724335.	NM_002294.3(LAMP2):c.719A>C (p.Gln240Pro) GRCh37: ChrX:119581718 GRCh38: ChrX:120447863	LAMP2	Q240P	Danon disease	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 208666836.	NM_002294.3(LAMP2):c.212C>G (p.Thr71Ser) GRCh37: ChrX:119589397 GRCh38: ChrX:120455542	LAMP2	T71S	Danon disease	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 206377637.	NM_002294.3(LAMP2):c.86T>C (p.Leu29Ser) GRCh37: ChrX:119590603 GRCh38: ChrX:120456748	LAMP2	L29S	Danon disease	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 206245338.	NM_002294.3(LAMP2):c.358A>C (p.Thr120Pro) GRCh37: ChrX:119589251 GRCh38: ChrX:120455396	LAMP2	T120P	Danon disease	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 205949339.	NM_002294.3(LAMP2):c.264dup (p.Ala89fs) GRCh37: ChrX:119589344-119589345 GRCh38: ChrX:120455489-120455490	LAMP2	A89fs	Danon disease	Pathogenic (Mar 7, 2022)	criteria provided, single submitter
Select item 205708940.	NM_002294.3(LAMP2):c.129T>A (p.Tyr43Ter) GRCh37: ChrX:119590560 GRCh38: ChrX:120456705	LAMP2	Y43*	Danon disease	Pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 203705541.	NM_002294.3(LAMP2):c.65-6A>T GRCh37: ChrX:119590630 GRCh38: ChrX:120456775	LAMP2		Danon disease	Likely benign (Dec 7, 2021)	criteria provided, single submitter
Select item 203255242.	NM_002294.3(LAMP2):c.64+15C>A GRCh37: ChrX:119602946 GRCh38: ChrX:120469091	LAMP2		Danon disease	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 202585143.	NM_002294.3(LAMP2):c.30G>C (p.Pro10=) GRCh37: ChrX:119602995 GRCh38: ChrX:120469140	LAMP2		Danon disease	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 201896844.	NM_002294.3(LAMP2):c.207T>C (p.His69=) GRCh37: ChrX:119589402 GRCh38: ChrX:120455547	LAMP2		Danon disease	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 201894845.	NM_002294.3(LAMP2):c.141G>A (p.Gln47=) GRCh37: ChrX:119590548 GRCh38: ChrX:120456693	LAMP2		Danon disease	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 200528146.	NM_002294.3(LAMP2):c.774_780del (p.Thr259fs) GRCh37: ChrX:119580244-119580250 GRCh38: ChrX:120446389-120446395	LAMP2	T259fs	Danon disease	Pathogenic (Nov 27, 2021)	criteria provided, single submitter
Select item 200217847.	NM_002294.3(LAMP2):c.565del (p.Cys189fs) GRCh37: ChrX:119581872 GRCh38: ChrX:120448017	LAMP2	C189fs	Danon disease	Pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 199687148.	NM_002294.3(LAMP2):c.976G>C (p.Gly326Arg) GRCh37: ChrX:119575702 GRCh38: ChrX:120441847	LAMP2	G326R	Danon disease	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 199609249.	NM_002294.3(LAMP2):c.742-11T>C GRCh37: ChrX:119580293 GRCh38: ChrX:120446438	LAMP2		Danon disease	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 198513650.	NM_002294.3(LAMP2):c.1002G>A (p.Glu334=) GRCh37: ChrX:119575676 GRCh38: ChrX:120441821	LAMP2		Danon disease	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 197859951.	NM_002294.3(LAMP2):c.688G>A (p.Asp230Asn) GRCh37: ChrX:119581749 GRCh38: ChrX:120447894	LAMP2	D230N	Danon disease	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 197703452.	NM_002294.3(LAMP2):c.425C>T (p.Ala142Val) GRCh37: ChrX:119582956 GRCh38: ChrX:120449101	LAMP2	A142V	Danon disease	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 196386053.	NM_002294.3(LAMP2):c.212C>T (p.Thr71Ile) GRCh37: ChrX:119589397 GRCh38: ChrX:120455542	LAMP2	T71I	Danon disease	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 196054854.	NM_002294.3(LAMP2):c.1196G>C (p.Gly399Ala) GRCh37: ChrX:119565215 GRCh38: ChrX:120431360	LAMP2	G399A	Danon disease	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 194961255.	NM_002294.3(LAMP2):c.490G>A (p.Val164Ile) GRCh37: ChrX:119582891 GRCh38: ChrX:120449036	LAMP2	V164I	Danon disease	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 194734956.	NM_002294.3(LAMP2):c.786A>G (p.Thr262=) GRCh37: ChrX:119580238 GRCh38: ChrX:120446383	LAMP2		Danon disease	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 194321357.	NM_002294.3(LAMP2):c.1224G>A (p.Glu408=) GRCh37: ChrX:119565187 GRCh38: ChrX:120431332	LAMP2		Danon disease	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 193329858.	NM_002294.3(LAMP2):c.94A>G (p.Asn32Asp) GRCh37: ChrX:119590595 GRCh38: ChrX:120456740	LAMP2	N32D	Danon disease	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 191743359.	NM_002294.3(LAMP2):c.928+11C>T GRCh37: ChrX:119576443 GRCh38: ChrX:120442588	LAMP2		Danon disease	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 191256860.	NM_002294.3(LAMP2):c.556+10G>A GRCh37: ChrX:119582815 GRCh38: ChrX:120448960	LAMP2		Danon disease	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 191178261.	NM_002294.3(LAMP2):c.864+7A>G GRCh37: ChrX:119580153 GRCh38: ChrX:120446298	LAMP2		Danon disease	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 189885562.	NM_002294.3(LAMP2):c.1054G>A (p.Val352Ile) GRCh37: ChrX:119575624 GRCh38: ChrX:120441769	LAMP2	V352I	Danon disease	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 180635963.	NM_002294.3(LAMP2):c.584_585insGC (p.Thr196fs) GRCh37: ChrX:119581852-119581853 GRCh38: ChrX:120447997-120447998	LAMP2	T196fs	Danon disease	Pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 180216164.	NM_002294.3(LAMP2):c.2T>C (p.Met1Thr) GRCh37: ChrX:119603023 GRCh38: ChrX:120469168	LAMP2	M1T	Danon disease	Likely pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 176542565.	NM_002294.3(LAMP2):c.8G>C (p.Cys3Ser) GRCh37: ChrX:119603017 GRCh38: ChrX:120469162	LAMP2	C3S	Danon disease, Cardiovascular phenotype	Uncertain significance (Jun 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 174837666.	NM_002294.3(LAMP2):c.1204C>T (p.His402Tyr) GRCh37: ChrX:119565207 GRCh38: ChrX:120431352	LAMP2	H402Y	Cardiovascular phenotype, Danon disease	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172075767.	NM_002294.3(LAMP2):c.676A>G (p.Asn226Asp) GRCh37: ChrX:119581761 GRCh38: ChrX:120447906	LAMP2	N226D	Cardiovascular phenotype, Danon disease	Uncertain significance (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169851268.	NC_000023.10:g.(?_119560002)_(119603205_?)del GRCh37: ChrX:119560002-119603205	LAMP2		Danon disease	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 168592269.	NM_002294.3(LAMP2):c.436_440dup (p.Leu147fs) GRCh37: ChrX:119582940-119582941 GRCh38: ChrX:120449085-120449086	LAMP2	L147fs	Danon disease	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167928070.	NM_002294.3(LAMP2):c.768del (p.Asn257fs) GRCh37: ChrX:119580256 GRCh38: ChrX:120446401	LAMP2	N257fs	Danon disease	Likely pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 166150071.	NM_002294.3(LAMP2):c.741+10T>C GRCh37: ChrX:119581686 GRCh38: ChrX:120447831	LAMP2		Danon disease	Likely benign (Dec 25, 2020)	criteria provided, single submitter
Select item 166092672.	NM_002294.3(LAMP2):c.1093+14A>T GRCh37: ChrX:119575571 GRCh38: ChrX:120441716	LAMP2		Danon disease	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 164633273.	NM_002294.3(LAMP2):c.1094-10C>T GRCh37: ChrX:119565327 GRCh38: ChrX:120431472	LAMP2		not specified, Danon disease	Conflicting interpretations of pathogenicity (May 15, 2023)	criteria provided, conflicting interpretations
Select item 163829174.	NM_002294.3(LAMP2):c.1094-16C>T GRCh37: ChrX:119565333 GRCh38: ChrX:120431478	LAMP2		Danon disease	Benign (Mar 2, 2022)	criteria provided, single submitter
Select item 162970775.	NM_002294.3(LAMP2):c.397+8T>A GRCh37: ChrX:119589204 GRCh38: ChrX:120455349	LAMP2		Danon disease	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 161770276.	NM_002294.3(LAMP2):c.183+9A>G GRCh37: ChrX:119590497 GRCh38: ChrX:120456642	LAMP2		Danon disease	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 161430077.	NM_002294.3(LAMP2):c.1143G>A (p.Val381=) GRCh37: ChrX:119565268 GRCh38: ChrX:120431413	LAMP2		Danon disease	Likely benign (Oct 31, 2021)	criteria provided, single submitter
Select item 161104778.	NM_002294.3(LAMP2):c.929-12T>C GRCh37: ChrX:119575761 GRCh38: ChrX:120441906	LAMP2		Danon disease	Likely benign (Oct 15, 2021)	criteria provided, single submitter
Select item 160437079.	NM_002294.3(LAMP2):c.557-20T>A GRCh37: ChrX:119581900 GRCh38: ChrX:120448045	LAMP2		Danon disease	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 160082880.	NM_002294.3(LAMP2):c.557-12C>T GRCh37: ChrX:119581892 GRCh38: ChrX:120448037	LAMP2		Danon disease	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 159873681.	NM_002294.3(LAMP2):c.1125C>T (p.Phe375=) GRCh37: ChrX:119565286 GRCh38: ChrX:120431431	LAMP2		Danon disease	Benign (Oct 5, 2022)	criteria provided, single submitter
Select item 159313682.	NM_002294.3(LAMP2):c.929-9del GRCh37: ChrX:119575758 GRCh38: ChrX:120441903	LAMP2		Danon disease	Benign (May 4, 2021)	criteria provided, single submitter
Select item 158655483.	NM_002294.3(LAMP2):c.556+20C>G GRCh37: ChrX:119582805 GRCh38: ChrX:120448950	LAMP2		Danon disease	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 157920584.	NM_002294.3(LAMP2):c.865-8T>C GRCh37: ChrX:119576525 GRCh38: ChrX:120442670	LAMP2		Danon disease	Likely benign (Aug 19, 2021)	criteria provided, single submitter
Select item 156971085.	NM_002294.3(LAMP2):c.184-19A>G GRCh37: ChrX:119589444 GRCh38: ChrX:120455589	LAMP2		Danon disease	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 156195586.	NM_002294.3(LAMP2):c.556+17T>G GRCh37: ChrX:119582808 GRCh38: ChrX:120448953	LAMP2		Danon disease	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 155595087.	NM_002294.3(LAMP2):c.864+18T>C GRCh37: ChrX:119580142 GRCh38: ChrX:120446287	LAMP2		Danon disease	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 154613988.	NM_002294.3(LAMP2):c.184-11A>G GRCh37: ChrX:119589436 GRCh38: ChrX:120455581	LAMP2		Danon disease	Likely benign (Oct 31, 2021)	criteria provided, single submitter
Select item 154189889.	NM_002294.3(LAMP2):c.204C>T (p.Asp68=) GRCh37: ChrX:119589405 GRCh38: ChrX:120455550	LAMP2		Danon disease	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 153438590.	NM_002294.3(LAMP2):c.370ACA[1] (p.Thr125del) GRCh37: ChrX:119589234-119589236 GRCh38: ChrX:120455379-120455381	LAMP2	T125del	Danon disease	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 152310391.	NM_002294.3(LAMP2):c.1A>C (p.Met1Leu) GRCh37: ChrX:119603024 GRCh38: ChrX:120469169	LAMP2	M1L	Danon disease	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 152158992.	NM_002294.3(LAMP2):c.919A>G (p.Asn307Asp) GRCh37: ChrX:119576463 GRCh38: ChrX:120442608	LAMP2	N307D	Danon disease	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 152064093.	NM_002294.3(LAMP2):c.556+14A>G GRCh37: ChrX:119582811 GRCh38: ChrX:120448956	LAMP2		Danon disease	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 151848894.	NM_002294.3(LAMP2):c.458G>A (p.Cys153Tyr) GRCh37: ChrX:119582923 GRCh38: ChrX:120449068	LAMP2	C153Y	Danon disease	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 151474495.	NM_002294.3(LAMP2):c.741+2T>A GRCh37: ChrX:119581694 GRCh38: ChrX:120447839	LAMP2		Danon disease	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 150897396.	NM_002294.3(LAMP2):c.280C>G (p.Pro94Ala) GRCh37: ChrX:119589329 GRCh38: ChrX:120455474	LAMP2	P94A	Danon disease	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 150323797.	NM_002294.3(LAMP2):c.970C>T (p.Pro324Ser) GRCh37: ChrX:119575708 GRCh38: ChrX:120441853	LAMP2	P324S	Danon disease, Cardiovascular phenotype	Uncertain significance (Feb 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149730498.	NM_002294.3(LAMP2):c.755T>C (p.Ile252Thr) GRCh37: ChrX:119580269 GRCh38: ChrX:120446414	LAMP2	I252T	not specified, Danon disease	Uncertain significance (May 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148936299.	NM_002294.3(LAMP2):c.409G>C (p.Val137Leu) GRCh37: ChrX:119582972 GRCh38: ChrX:120449117	LAMP2	V137L	Danon disease	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 1480646100.	NM_002294.3(LAMP2):c.832A>C (p.Thr278Pro) GRCh37: ChrX:119580192 GRCh38: ChrX:120446337	LAMP2	T278P	Danon disease	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter

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