Full data view for gene LAMP2

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the transcript reference sequence.

275 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_1i c.-24864_65-3473del r.0? p.0? Unknown - pathogenic g.119594113_119627904del g.120460258_120494049del - - LAMP2_000053 34.4 kb deletion of exon 1 PubMed: Yang 2010, Journal: Yang 2010 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Yang 2010, Journal: Yang 2010 - M - United States white - 0 - - 1 Johan den Dunnen
+?/. 1 c.-23_-15del r.(?) p.(=) Parent #1 - likely pathogenic g.119603055_119603063del g.120469200_120469208del -30_-22delCGCCGCCGT - LAMP2_000034 - PubMed: Boucek 2011, Journal: Boucek 2011 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.-23_-15del r.(?) p.(=) Unknown - benign g.119603055_119603063del g.120469200_120469208del LAMP2(NM_002294.2):c.-23_-15delGTCGCCGCC - LAMP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-23_-15del r.(?) p.(=) Unknown - benign g.119603055_119603063del g.120469200_120469208del LAMP2(NM_002294.2):c.-23_-15delGTCGCCGCC - LAMP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-23_-15del r.(?) p.(=) Unknown - benign g.119603055_119603063del g.120469200_120469208del LAMP2(NM_002294.2):c.-23_-15delGTCGCCGCC - LAMP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-23_-15dup r.(?) p.(=) Unknown - benign g.119603055_119603063dup g.120469200_120469208dup LAMP2(NM_002294.2):c.-23_-15dupGTCGCCGCC - LAMP2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4G>C r.(?) p.(=) Unknown - likely benign g.119603028C>G g.120469173C>G LAMP2(NM_002294.2):c.-4G>C - LAMP2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4G>C r.(?) p.(=) Unknown - benign g.119603028C>G - LAMP2(NM_002294.2):c.-4G>C - LAMP2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.661G>M r.(?) p.(Gly221Arg) Maternal (confirmed) - benign g.119581776C>M - G221R - LAMP2_000124 - PubMed: Fanin 2015 - - Germline - - - 0 - DNA SEQ - - MD Family PubMed: Fanin 2015 2-generation family, affected mother/2 sons F;M - Italy - - 0 - - 3 Johan den Dunnen
+/. _1_1i c.(?_1)_(64+1_65-1)del r.0? p.0? Parent #1 - pathogenic g.(119590625_119602960)_(119603024_?)del - c.1-?+64+?del - LAMP2_000035 - PubMed: Boucek 2011, Journal: Boucek 2011 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.4G>C r.(?) p.(Val2Leu) Unknown - VUS g.119603021C>G g.120469166C>G - - LAMP2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9C>T r.(?) p.(Cys3=) Unknown - likely benign g.119603016G>A g.120469161G>A LAMP2(NM_002294.2):c.9C>T (p.C3=) - LAMP2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.14del r.(?) p.(Arg5Profs*15) Unknown - pathogenic g.119603011del g.120469156del - - LAMP2_000030 not in 54 controls PubMed: Nishino 2000, OMIM:var0006 - - Germline - 1/11 cases - 0 - DNA IHC, PCR, RT-PCR, SEQ, Western - - Danon;GSD-2B - PubMed: Nishino 2000 - M - Greece - - 0 - - 1 Peikuan Cong
+/. - c.29del r.(?) p.(Pro10Argfs*10) Unknown - pathogenic g.119602997del g.120469142del - - LAMP2_000168 - PubMed: Walsh 2017 - - Germline - 1/839 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. - c.35_52del r.(?) p.(Ser12_Val17del) Parent #1 - likely pathogenic g.119602975_119602992del g.120469120_120469137del - - LAMP2_000170 ACMG PVS1 PM2; no genotypes reported PubMed: Nguyen 2021 - - Germline - - - 0 - DNA SEQ-NG - 58-gene panel CMD Pat082 PubMed: Nguyen 2021 - - - Viet Nam - - 0 - - 1 Johan den Dunnen
./. - c.36_42del r.(?) p.(Gly13Phefs*5) Unknown - pathogenic g.119602989_119602995del g.120469134_120469140del 173_179del - LAMP2_000008 patient mother carried variant PubMed: Charron 2004, OMIM:var0008 - - Germline - 1/50 - 0 - DNA IHC, SEQ - - CMH - PubMed: Charron 2004 - - - France - - 0 - - 1 Peikuan Cong
-/. - c.42C>T r.(?) p.(Leu14=) Unknown - benign g.119602983G>A g.120469128G>A LAMP2(NM_002294.2):c.42C>T (p.L14=) - LAMP2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.42C>T r.(?) p.(Leu14=) Unknown - likely benign g.119602983G>A g.120469128G>A LAMP2(NM_002294.2):c.42C>T (p.L14=) - LAMP2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.49G>A r.(?) p.(Val17Ile) Unknown - likely benign g.119602976C>T - LAMP2(NM_002294.2):c.49G>A (p.V17I) - LAMP2_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.56T>G r.(?) p.(Leu19Arg) Unknown - pathogenic g.119602969A>C g.120469114A>C - - LAMP2_000076 - PubMed: D’Souza 2014 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: D’Souza 2014 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.56T>G r.(?) p.(Leu19Arg) Unknown - VUS g.119602969A>C g.120469114A>C - - LAMP2_000076 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/2451 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1i c.64+1G>A r.spl p.? Parent #1 - pathogenic g.119602960C>T g.120469105C>T - - LAMP2_000078 - PubMed: Alroy 2010, Journal: Alroy 2010 - - Germline yes - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Alroy 2010, Journal: Alroy 2010 2-generation family, 5 affecteds, (3F, 2M) F;M - United States - - 0 - - 5 Johan den Dunnen
+/. 1i c.64+1G>A r.spl p.? Unknown - pathogenic g.119602960C>T g.120469105C>T - - LAMP2_000078 - PubMed: Boucek 2011, Journal: Boucek 2011 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1i c.64+1G>T r.4_64del p.Val2Glufs*12 Maternal (confirmed) - pathogenic g.119602960C>A g.120469105C>A IVS1+1G>T - LAMP2_000013 RNA new cryptic splice site that excised 21 amino acids after initiation codon; not in 180 controls PubMed: Arad 2005 - - Germline - 1/75 cases - 0 - DNA, RNA IHC, PCR, RT-PCR, SEQ, Western - - CMH - PubMed: Arad 2005 2-generation family, 1 affected, carrier mother M no - white; black; Hispanic - 0 - - 1 Peikuan Cong
-?/. - c.65-20A>T r.(=) p.(=) Unknown - likely benign g.119590644T>A g.120456789T>A LAMP2(NM_002294.2):c.65-20A>T - LAMP2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.65-13T>A r.(=) p.(=) Unknown - VUS g.119590637A>T g.120456782A>T LAMP2(NM_002294.2):c.65-13T>A - LAMP2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.65-2A>G r.65_183del p.Gly22Glufs*14 Unknown - pathogenic g.119590626T>C g.120456771T>C IVS1-2A>G - LAMP2_000014 not in 180 controls PubMed: Arad 2005 - - De novo - 1/75 cases - 0 - DNA, RNA IHC, PCR, RT-PCR, SEQ, Western - - CMH - PubMed: Arad 2005 2-generation family, 1 affected, unaffected non-carrier parents M no - white; black; Hispanic - 0 - - 1 Peikuan Cong
./. - c.65-2A>G r.spl? p.? Maternal (confirmed) - likely pathogenic g.119590626T>C g.120456771T>C IVS1-2A>G - LAMP2_000014 4 transcripts detected: (1) full length transcript, (2) transcript with cryptic splice site in exon 2, (3) exon 2 - skipped transcript (frameshift) and (4) exon 1+2 skipped transcript PubMed: Cetin 2016, Journal: Cetin 2016 - rs397516743 Germline yes - - 0 - DNA SEQ - - CM - - 3-generation family, affected mother, daughter (II2, 56y) and grandson (III2, 40y) M no Austria - - 0 - - 3 Hakan Cetin
?/. - c.73C>T r.(?) p.(Arg25Trp) Unknown - VUS g.119590616G>A g.120456761G>A LAMP2(NM_002294.2):c.73C>T (p.R25W) - LAMP2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.73C>T r.(?) p.(Arg25Trp) Unknown - VUS g.119590616G>A - LAMP2(NM_002294.2):c.73C>T (p.R25W) - LAMP2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.74G>A r.(?) p.(Arg25Gln) Unknown - likely benign g.119590615C>T g.120456760C>T LAMP2(NM_002294.2):c.74G>A (p.R25Q) - LAMP2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.85T>C r.(?) p.(Leu29=) Unknown - benign g.119590604A>G g.120456749A>G LAMP2(NM_002294.2):c.85T>C (p.L29=) - LAMP2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.103_104del r.(?) p.(Asp35Phefs*20) Unknown - pathogenic g.119590586_119590587del g.120456731_120456732del 102_103delAG - LAMP2_000026 - PubMed: Echaniz-Laguna 2006 - - Germline - 2/a family - 0 - DNA IHC, PCR, SEQ, Western - - Danon;GSD-2B - PubMed: Echaniz-Laguna 2006 - - - Italy Sardinia - 0 - - 1 Peikuan Cong
?/. - c.112A>T r.(?) p.(Asn38Tyr) Unknown - VUS g.119590577T>A g.120456722T>A LAMP2(NM_002294.2):c.112A>T (p.N38Y) - LAMP2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.115_118del r.(?) p.(Ala39LeufsTer9) Unknown - likely benign g.119590571_119590574del g.120456716_120456719del LAMP2(NM_002294.2):c.115_118delGCCA (p.A39Lfs*9) - LAMP2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.124del r.(?) p.(Leu42Phefs*7) Unknown - pathogenic g.119590566del g.120456711del - - LAMP2_000167 - PubMed: Walsh 2017 - - Germline - 1/839 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.127del r.(?) p.(Tyr43MetfsTer6) Unknown - pathogenic g.119590564del g.120456709del LAMP2(NM_002294.2):c.127delT (p.Y43Mfs*6) - LAMP2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.128_129dup r.(?) p.(Ala44Metfs*6) Unknown - pathogenic g.119590561_119590562dup g.120456706_120456707dup 128_129dupAT - LAMP2_000166 - PubMed: Walsh 2017 - - Germline - 1/2451 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.137G>A r.(?) p.(Trp46*) Unknown - pathogenic g.119590552C>T g.120456697C>T - - LAMP2_000049 - PubMed: Fidzianska 2013, Journal: Fidzianska 2013 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Fidzianska 2013, Journal: Fidzianska 2013 isolated case and unaffected non-carrier sister M no Poland - - 0 - - 1 Johan den Dunnen
./. 2 c.138G>A r.(?) p.(Trp46*) Maternal (inferred) - pathogenic g.119590551C>T g.120456696C>T - - LAMP2_000029 - PubMed: Balmer 2005 - - Germline yes - - 0 - DNA IHC, PCR, Southern, SSCA - - Danon;GSD-2B - PubMed: Balmer 2005 2-generation family, affected boy and mother M no Switzerland - 16y 0 - - 2 Peikuan Cong
+/. - c.139C>T r.(?) p.(Gln47Ter) Parent #1 - pathogenic g.119590550G>A g.120456695G>A - - LAMP2_000169 ACMG PVS1 PM1 PM2 PP3; no genotypes reported PubMed: Nguyen 2021 - - Germline - - - 0 - DNA SEQ-NG - 58-gene panel CMD Pat016 PubMed: Nguyen 2021 - - - Viet Nam - - 0 - - 1 Johan den Dunnen
-/. 2 c.156A>T r.(=) p.(Val52=) Paternal (confirmed) - benign g.119590533T>A g.120456678T>A A156T - LAMP2_000001 - PubMed: Regelsberger 2009, Journal: Regelsberger 2009 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Regelsberger 2009, Journal: Regelsberger 2009 2-generation family, 1 affected, unaffected non-carrier parents/sib M no Austria - - 0 - - 1 Johan den Dunnen
./. - c.156A>T r.(=) p.(=) Maternal (inferred) - VUS g.119590533T>A g.120456678T>A V52V - LAMP2_000001 recurrent, found 78 times PubMed: Tarpey 2009 - rs12097 Germline - 78/208 cases - 0 - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 78 Johan den Dunnen
./. - c.156A>T r.(=) p.(=) Unknown - benign g.119590533T>A g.120456678T>A - - LAMP2_000001 - from website {DBsub-Emory} - rs12097 Germline - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
./. - c.156A>T r.(=) p.(=) Unknown - benign g.119590533T>A g.120456678T>A - - LAMP2_000001 - PubMed: Lacoste-Collin 2002 - rs12097 Germline - 1 - 0 - DNA IHC, PCR, SEQ - - Danon;GSD-2B - PubMed: Lacoste-Collin 2002 - M - France white, French - 0 - - 1 Peikuan Cong
./. - c.156A>T r.(=) p.(=) Unknown - likely benign g.119590533T>A g.120456678T>A - - LAMP2_000001 - PubMed: Di Blasi 2008 - rs12097 Germline - - - 0 - DNA BESS, PCRm, RT-PCR, SEQ - - Danon;GSD-2B - PubMed: Di Blasi 2008 - - - Italy - - 0 - - 1 Peikuan Cong
./. - c.156A>T r.(=) p.(=) Maternal (confirmed) - likely benign g.119590533T>A g.120456678T>A V52V - LAMP2_000001 - - - rs12097 Germline - - - 0 - DNA SEQ - - CM - - 3-generation family, affected mother, daughter (II2, 56y) and grandson (III2, 40y) M no Austria - - 0 - - 3 Hakan Cetin
-/. - c.156A>T r.(?) p.(Val52=) Unknown - benign g.119590533T>A g.120456678T>A LAMP2(NM_002294.2):c.156A>T (p.V52=) - LAMP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.156A>T r.(?) p.(Val52=) Unknown - benign g.119590533T>A g.120456678T>A LAMP2(NM_002294.2):c.156A>T (p.V52=) - LAMP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.157C>T r.(?) p.(Arg53Cys) Unknown - likely benign g.119590532G>A g.120456677G>A LAMP2(NM_002294.2):c.157C>T (p.R53C) - LAMP2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157C>T r.(?) p.(Arg53Cys) Unknown - likely benign g.119590532G>A - LAMP2(NM_002294.2):c.157C>T (p.R53C) - LAMP2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.179del r.(?) p.(Thr60Ilefs*5) Unknown - pathogenic g.119590510del g.120456655del - - LAMP2_000044 - PubMed: Regelsberger 2009, Journal: Regelsberger 2009 - - De novo - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Regelsberger 2009, Journal: Regelsberger 2009 2-generation family, 1 affected, unaffected non-carrier parents/sib M no Austria - - 0 - - 1 Johan den Dunnen
+/. 2i c.183+1G>A r.spl p.? Parent #1 - pathogenic g.119590505C>T g.120456650C>T - - LAMP2_000036 - PubMed: Boucek 2011, Journal: Boucek 2011 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.183+1G>A r.spl p.? Unknown - likely pathogenic g.119590505C>T g.120456650C>T - - LAMP2_000036 - PubMed: Walsh 2017 - - Germline - 1/2451 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.183+5G>A r.spl? p.? Parent #1 - likely pathogenic g.119590501C>T g.120456646C>T - - LAMP2_000151 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs730880479 Germline - 2/2767 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
./. - c.184_190del r.(?) p.(Lys62*) Unknown - pathogenic g.119589420_119589426del g.120455565_120455571del 184-190delAAAACTG - LAMP2_000071 - PubMed: D’Souza 2014 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: D’Souza 2014 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.188C>T r.(?) p.(Thr63Ile) Unknown - benign g.119589421G>A g.120455566G>A LAMP2(NM_001122606.1):c.188C>T (p.(Thr63Ile)), LAMP2(NM_002294.2):c.188C>T (p.T63I) - LAMP2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.188C>T r.(?) p.(Thr63Ile) Unknown - VUS g.119589421G>A g.120455566G>A LAMP2(NM_001122606.1):c.188C>T (p.(Thr63Ile)), LAMP2(NM_002294.2):c.188C>T (p.T63I) - LAMP2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.188C>T r.(?) p.(Thr63Ile) Unknown - VUS g.119589421G>A g.120455566G>A LAMP2(NM_001122606.1):c.188C>T (p.(Thr63Ile)), LAMP2(NM_002294.2):c.188C>T (p.T63I) - LAMP2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188C>T r.(?) p.(Thr63Ile) Unknown - VUS g.119589421G>A - LAMP2(NM_001122606.1):c.188C>T (p.(Thr63Ile)), LAMP2(NM_002294.2):c.188C>T (p.T63I) - LAMP2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.190_191del r.(?) p.(Val64Asnfs*11) Parent #1 - pathogenic g.119589419_119589420del g.120455564_120455565del 189_190delTG - LAMP2_000046 - PubMed: He 2014, Journal: He 2014 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: He 2014, Journal: He 2014 2-generation family, 1 affected, unaffected heterozygous carrier mother/sister M no China China - 0 - - 3 Johan den Dunnen
-?/. - c.209G>T r.(?) p.(Gly70Val) Unknown - likely benign g.119589400C>A g.120455545C>A LAMP2(NM_002294.2):c.209G>T (p.G70V) - LAMP2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.213T>C r.(?) p.(Thr71=) Unknown - benign g.119589396A>G - LAMP2(NM_002294.2):c.213T>C (p.T71=) - LAMP2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.222_223del r.(?) p.(Tyr74*) Unknown - pathogenic g.119589389_119589390del g.120455534_120455535del - - LAMP2_000165 - PubMed: Walsh 2017 - - Germline - 1/839 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
./. - c.239G>T r.(?) p.(Gly80Val) Parent #1 - likely pathogenic g.119589370C>A g.120455515C>A - - LAMP2_000081 NCBI reference KU508440 PubMed: Cecconi 2016, Journal: Cecconi 2016 - - Germline - reads 0.49 - 0 - DNA SEQ-NG-I - - CMH HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - 1 Domenico Coviello
+/. 3 c.241del r.(?) p.(Asp81Metfs*8) Unknown - pathogenic g.119589371del g.120455516del 238-241delG - LAMP2_000047 not in 100 controls PubMed: Kim 2010, Journal: Kim 2010 - - De novo - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Kim 2010, Journal: Kim 2010 2-generation family, 1 affected, unaffected non-carrier parents/sibs F no Korea, South (Republic) - - 0 - - 1 Johan den Dunnen
+/. 3 c.247C>T r.(?) p.(Gln83*) Parent #1 - pathogenic g.119589362G>A g.120455507G>A - - LAMP2_000037 - PubMed: Boucek 2011, Journal: Boucek 2011 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 3 c.247C>T r.(?) p.(Gln83*) Parent #1 - pathogenic g.119589362G>A g.120455507G>A - - LAMP2_000037 - PubMed: Boucek 2011, Journal: Boucek 2011 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 3 c.257_258del r.(?) p.(Pro86Glnfs*26) Unknown - pathogenic g.119589352_119589353del g.120455497_120455498del 257_258delCC - LAMP2_000050 - PubMed: Cheng 2012, Journal: Cheng 2012 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Cheng 2012, Journal: Cheng 2012 - M no China - - 0 - - 1 Johan den Dunnen
-?/. - c.267A>C r.(?) p.(Ala89=) Unknown - likely benign g.119589342T>G - LAMP2(NM_002294.2):c.267A>C (p.A89=) - LAMP2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.269T>A r.(?) p.(Val90Glu) Unknown - VUS g.119589340A>T g.120455485A>T LAMP2(NM_002294.2):c.269T>A (p.V90E) - LAMP2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.270_274del r.(?) p.(Gln91Argfs*20) Unknown - pathogenic g.119589340_119589344del g.120455485_120455489del - - LAMP2_000164 - PubMed: Walsh 2017 - - Germline - 1/839 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 3 c.288_289del r.(?) p.(Ser97Leufs*15) Unknown - pathogenic g.119589322_119589323del g.120455467_120455468del - - LAMP2_000048 - PubMed: Tada 2010, Journal: Tada 2010 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Tada 2010, Journal: Tada 2010 isolated case M no Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.293G>A r.(?) p.(Trp98*) Parent #1 - pathogenic g.119589316C>T g.120455461C>T G293A - LAMP2_000054 - PubMed: Tolb 2010, Journal: Tolb 2010 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Tolb 2010, Journal: Tolb 2010 4-generation family, 4 affecteds (2F, 2M) F;M no United States - - 0 - - 4 Johan den Dunnen
+/. 3 c.294G>A r.(?) p.(Trp98*) Parent #1 - pathogenic g.119589315C>T g.120455460C>T - - LAMP2_000038 - PubMed: Boucek 2011, Journal: Boucek 2011 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 3 c.294G>A r.(?) p.(Trp98*) Parent #1 - pathogenic g.119589315C>T g.120455460C>T - - LAMP2_000038 - PubMed: Boucek 2011, Journal: Boucek 2011 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 3 c.294G>A r.294g>a p.Trp98* Maternal (confirmed) - pathogenic g.119589315C>T g.120455460C>T - - LAMP2_000038 LAMP2 mRNA level 0.21 PubMed: Fanin 2006, Journal: Fanin 2006 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - Danon;GSD-2B - PubMed: Fanin 2006, Journal: Fanin 2006, PubMed: Miani 2012, Journal: Miani 2012 4-generation family, 8 affecteds (6F, 2M), 4 women died suddenly M no Italy - - 0 - - 8 Johan den Dunnen
./. - c.299C>T r.(?) p.(Ala100Val) Maternal (inferred) - VUS g.119589310G>A g.120455455G>A - - LAMP2_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Johan den Dunnen
+/. 3 c.317_320dup r.(?) p.(Thr108Ilefs*6) Unknown - pathogenic g.119589289_119589292dup g.120455434_120455437dup 320_321insCATC - LAMP2_000051 - PubMed: Cheng 2012, Journal: Cheng 2012 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Cheng 2012, Journal: Cheng 2012 - M - China - - 0 - - 1 Johan den Dunnen
+/. 3 c.327T>A r.(?) p.(Tyr109*) Unknown - pathogenic (recessive) g.119589282A>T g.120455427A>T Y109Ter - LAMP2_000007 not in 180 controls PubMed: Arad 2005 - - De novo - 1/75 cases - 0 - DNA IHC, PCR, RT-PCR, SEQ, Western - - CMH - PubMed: Arad 2005 2-generation family, 1 affected, unaffected non-carrier parents M no - white; black; Hispanic - 0 - - 1 Peikuan Cong
-/. - c.339C>T r.(?) p.(Ser113=) Unknown - benign g.119589270G>A g.120455415G>A LAMP2(NM_002294.2):c.339C>T (p.S113=) - LAMP2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.339C>T r.(?) p.(Ser113=) Unknown - likely benign g.119589270G>A g.120455415G>A LAMP2(NM_002294.2):c.339C>T (p.S113=) - LAMP2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.339C>T r.(?) p.(Ser113=) Unknown - likely benign g.119589270G>A g.120455415G>A LAMP2(NM_002294.2):c.339C>T (p.S113=) - LAMP2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.339C>T r.(?) p.(Ser113=) Unknown - likely benign g.119589270G>A g.120455415G>A LAMP2(NM_002294.2):c.339C>T (p.S113=) - LAMP2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.339C>T r.(?) p.(Ser113=) Unknown - likely benign g.119589270G>A g.120455415G>A LAMP2(NM_002294.2):c.339C>T (p.S113=) - LAMP2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.358A>G r.(?) p.(Thr120Ala) Unknown - likely benign g.119589251T>C g.120455396T>C LAMP2(NM_002294.2):c.358A>G (p.T120A) - LAMP2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358A>G r.(?) p.(Thr120Ala) Unknown - VUS g.119589251T>C - LAMP2(NM_002294.2):c.358A>G (p.T120A) - LAMP2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371C>T r.(?) p.(Thr124Ile) Unknown - VUS g.119589238G>A g.120455383G>A - - LAMP2_000163 VUS favour benign PubMed: Walsh 2017 - - Germline - 1/2451 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.372A>G r.(?) p.(Thr124=) Unknown - benign g.119589237T>C g.120455382T>C LAMP2(NM_002294.2):c.372A>G (p.T124=) - LAMP2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.385G>A r.(?) p.(Ala129Thr) Unknown - benign g.119589224C>T g.120455369C>T LAMP2(NM_002294.2):c.385G>A (p.A129T) - LAMP2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.397+16del r.(=) p.(=) Unknown - benign g.119589197del g.120455342del LAMP2(NM_002294.2):c.397+16delG - LAMP2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3i_5i c.397+1822_742-705dup r.[=, 398_741dup, 398_741dup;1093_1094ins1093+2437_1093+2614, 1093_1094ins1093+2437_1093+2654] p.? Maternal (confirmed) - pathogenic g.119581008_119587411dup g.120447153_120453556dup g.15815_22218dup6404 - LAMP2_000058 somatic mosaicism in mother PubMed: Majer 2014, Journal: Majer 2014 - - Germline - - - 0 - DNA, RNA PCRq, RT-PCR, SEQ - - Danon;GSD-2B - PubMed: Majer 2014, Journal: Majer 2014 3-generation family, 2 affected brothers M no Czech Republic - - 0 - - 2 Johan den Dunnen
?/. - c.398-5del r.spl? p.? Unknown - VUS g.119582991del g.120449136del LAMP2(NM_002294.2):c.398-5delT - LAMP2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.398-5T>C r.spl? p.? Unknown - likely benign g.119582988A>G g.120449133A>G LAMP2(NM_002294.2):c.398-5T>C - LAMP2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.398-5T>C r.spl? p.? Unknown - likely benign g.119582988A>G g.120449133A>G LAMP2(NM_002294.2):c.398-5T>C - LAMP2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.398-4A>G r.spl? p.? Unknown - likely benign g.119582987T>C g.120449132T>C - - LAMP2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_9_ c.(397+1_398-1)_(*1_?)del r.? p.0 Parent #1 - pathogenic g.(119554000_119556000)_(119582984_119589211)del - del ex4-10 - LAMP2_000039 58 kb deletion, break point sequence shown, but not found in reference sequence PubMed: Yang 2010, Journal: Yang 2010 - - De novo - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Yang 2010, Journal: Yang 2010 2-generation family, 1 affected, unaffected non-carrier parents M - United States white - 0 - - 1 Johan den Dunnen
+/. 3i_9_ c.(397+1_398-1)_(*1_?)del r.? p.? Parent #1 - pathogenic g.(?_119562338)_(119582984_119589211)del - NM_002294.2:c.398-?_1233+?del - LAMP2_000039 - PubMed: Boucek 2011, Journal: Boucek 2011 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 3i_9_ c.(397+1_398-1)_(*1_?)del r.? p.? Unknown - pathogenic g.(119548000_119550000)_(119582984_119589211)del - del ex4-10 - LAMP2_000039 58 kb deletion PubMed: Yang 2010, Journal: Yang 2010 - - Germline - - - 0 - DNA PCR, SEQ - - Danon;GSD-2B - PubMed: Yang 2010, Journal: Yang 2010 - M - United States - - 0 - - 1 Johan den Dunnen
./. - c.405dup r.(?) p.(Thr136Tyrfs*3) Unknown - pathogenic g.119582977dup g.120449122dup 405-406insT - LAMP2_000072 - PubMed: D’Souza 2014 - - Germline - - - 0 - DNA SEQ - - Danon;GSD-2B - PubMed: D’Souza 2014 - - - United States - - 0 - - 1 Johan den Dunnen
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