Unique variants in the LARGE gene

NOTE: gene symbol was recently changed from LARGE to LARGE1. This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_004737.4 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.-240C>T r.(?) p.(=) - benign g.34316077G>A g.33920089G>A - - LARGE_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2i_10i c.-83+31477_1131+3394del r.-82_1131del p.? - pathogenic g.33774511_34221251del g.33378525_33825263del - - LARGE_000087 1 more item PubMed: Cummings 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.(?_-83+31477)_*1351del r.0? p.0? - pathogenic (recessive) g.(?_3774511)_(34221251_?)del - 22q12.3(33,774,511-34,221,251) 2 LARGE_000088 - PubMed: O'Grady 2017 - - Germline - - - - - Johan den Dunnen
-/. 2 3 c.-63C>T r.(?) p.(=) - benign g.34157526G>A g.33761539G>A 1-63C>T - LARGE_000008 other disease-associated change in several patients, VKGL data sharing initiative Nederland PubMed: Godfrey 2007 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 3 c.-31G>A r.(?) p.(=) - VUS g.34157494C>T g.33761507C>T - - LARGE_000033 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 1 ? c.(?)del r.? p.? - pathogenic g.? - - - LARGE_000000 76 Kb partial LARGE gene deletion L Medne ASHG 2010 A1669 - - Germline - - - - - Johan den Dunnen
+/. 1 1i_4i c.-145-(24848_24703)_409-(3319_3067)dup c.(-145_408dup) p.? - pathogenic g.? - chr22.hg18:(32355377_32355629)_(32607493_32607638)dup - LARGE_000029 252 Kb duplication exon 2-4 PubMed: Vuillaumier-Barrot 2011 - - Germline - - - - - Johan den Dunnen
+/., ?/. 2 5, _1_16_ c.? r.(?), r.? p.(Gln87fs*), p.? - pathogenic, VUS g.? - Gln87fsX - LARGE_000000 unknown variant 2nd chromosome, variant not described, maybe c.259delC PubMed: Clement 2008, OMIM:var0005 - - Germline - - - - - Johan den Dunnen
-?/. 1 3 c.16A>C r.(?) p.(=) - likely benign g.34157448T>G g.33761461T>G - - LARGE_000024 - - - - Germline - - - - - Tom Winder
-?/. 1 - c.90T>G r.(?) p.(Phe30Leu) - likely benign g.34157374A>C g.33761387A>C LARGE1(NM_004737.5):c.90T>G (p.F30L) - LARGE_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.98G>A r.(?) p.(Ser33Asn) - likely benign g.34157366C>T g.33761379C>T LARGE1(NM_004737.5):c.98G>A (p.S33N) - LARGE_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3i_4i c.106+6363_408-6629delinsGTGTG r.107_408del p.Gly367Asnfs*27 - pathogenic g.34052982_34150995delinsCACAC - - - LARGE_000031 1 more item PubMed: Vuillaumier-Barrot 2011 - - Germline - - - - - Johan den Dunnen
?/. 1 3i c.107-40003_107-40002del r.(?) p.(=) - VUS g.34086656_34086657del g.33690670_33690671del - - LARGE_000049 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.164C>T r.(?) p.(Thr55Met) - likely benign g.34046597G>A g.33650611G>A LARGE1(NM_004737.5):c.164C>T (p.T55M) - LARGE_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.165G>C r.(?) p.(Thr55=) - benign g.34046596C>G g.33650610C>G LARGE1(NM_004737.5):c.165G>C (p.T55=) - LARGE_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.178C>T r.(?) p.(Arg60Trp) - VUS g.34046583G>A g.33650597G>A LARGE1(NM_004737.5):c.178C>T (p.R60W) - LARGE_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.210C>T r.(?) p.(Arg70=) - likely benign g.34046551G>A g.33650565G>A LARGE1(NM_004737.5):c.210C>T (p.R70=) - LARGE_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 4 c.211G>A r.(?) p.(Glu71Lys) - benign g.34046550C>T g.33650564C>T - - LARGE_000013 other disease-associated change in one patients PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.251G>C r.(?) p.(Ser84Thr) - likely benign g.34046510C>G g.33650524C>G LARGE(NM_004737.4):c.251G>C (p.(Ser84Thr)) - LARGE_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.266G>A r.(?) p.(Arg89Gln) - likely benign g.34046495C>T g.33650509C>T LARGE(NM_004737.4):c.266G>A (p.(Arg89Gln)), LARGE1(NM_004737.5):c.266G>A (p.R89Q) - LARGE_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 4 c.309C>A r.(?) p.(=) - VUS g.34046452G>T g.33650466G>T - - LARGE_000021 - PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-/., ?/. 2 4 c.309C>T r.(?) p.(=), p.(Ser103=) - benign, VUS g.34046452G>A g.33650466G>A LARGE1(NM_004737.5):c.309C>T (p.S103=) - LARGE_000034 VKGL data sharing initiative Nederland from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
?/. 1 - c.334G>A r.(?) p.(Glu112Lys) - VUS g.34046427C>T g.33650441C>T LARGE1(NM_004737.5):c.334G>A (p.E112K) - LARGE_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.351C>T r.(?) p.(Gly117=) - VUS g.34046410G>A g.33650424G>A LARGE1(NM_004737.5):c.351C>T (p.G117=) - LARGE_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.391G>A r.(?) p.(Val131Ile) - likely benign, VUS g.34046370C>T g.33650384C>T LARGE(NM_004737.4):c.391G>A (p.(Val131Ile)), LARGE1(NM_004737.6):c.391G>A (p.V131I) - LARGE_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-/., -?/. 2 4i c.409-19C>T r.(=), r.(?) p.(=) - benign, likely benign g.34022329G>A g.33626345G>A LARGE1(NM_004737.5):c.409-19C>T - LARGE_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Tom Winder, VKGL-NL_Rotterdam
-/. 5 5 c.435C>T r.(?) p.(=), p.(?), p.(Ala145=) - benign g.34022284G>A g.33626300G>A LARGE1(NM_004737.5):c.435C>T (p.A145=), LARGE1(NM_004737.6):c.435C>T (p.A145=) - LARGE_000014 other disease-associated change in several patients, VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Godfrey 2007 - - CLASSIFICATION record, Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.460G>A r.(?) p.(Val154Ile) - VUS g.34022259C>T - LARGE1(NM_133642.4):c.460G>A (p.V154I) - LARGE_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 6 c.552G>A r.(?) p.(?) - benign g.34000484C>T g.33604498C>T - - LARGE_000015 other disease-associated change in several patients PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-/. 3 6 c.576C>T r.(?) p.(=), p.(Pro192=) - benign g.34000460G>A g.33604474G>A LARGE1(NM_004737.5):c.576C>T (p.P192=) - LARGE_000035 VKGL data sharing initiative Nederland from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.615+10G>T r.(=) p.(=) - likely benign g.34000411C>A g.33604425C>A LARGE1(NM_004737.5):c.615+10G>T - LARGE_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6i_7i c.616-15194_788-42870delinsATG r.616_787del p.Ser206Valfs*37 - pathogenic g.33871121_33976199delinsCAT g.33475135_33580213delinsCAT 615+24218_788-42869delinsAATG - LARGE_000032 105 Kb deletion exon 7 PubMed: Vuillaumier-Barrot 2011 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.675del r.(?) p.(Val226SerfsTer2) - VUS g.33960947del g.33564961del LARGE(NM_004737.4):c.675del (p.(Val226SerfsTer2)) - LARGE_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.729G>A r.(?) p.(Thr243=) - benign g.33960892C>T g.33564906C>T LARGE1(NM_004737.5):c.729G>A (p.T243=) - LARGE_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.787+32785_788-46910dup r.(?) p.(=) - VUS g.(?_33875161)_(33928049_?)dup - - - LARGE_000081 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - Unknown - - - - - Nirmal Vadgama
-?/. 1 7i c.788-4484T>C r.(=) p.(=) - likely benign g.33832735A>G g.33436749A>G - - LARGE_000079 - - - - Germline - - - - - Yu Sun
-/. 1 - c.788-29A>G r.(=) p.(=) - benign g.33828280T>C g.33432294T>C LARGE1(NM_004737.5):c.788-29A>G - LARGE_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 8 c.862T>C r.(?) p.(Trp288Arg) - VUS g.33828177A>G g.33432191A>G - - LARGE_000023 - - - - Germline - - - - - Tom Winder
-/. 1 8i c.892+50C>T r.(?) p.(=) - benign g.33828097G>A g.33432111G>A - - LARGE_000036 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 1 8i_10i c.893-20485_1132-21856del r.893_1131del p.Val299Hisfs*30 - pathogenic g.33755643_33800775del g.33359657_33404789del 871+27358_1132-21850del42152insT - LARGE_000030 42 Kb deletion exon 9-10 PubMed: Vuillaumier-Barrot 2011 - - Germline - - - - - Johan den Dunnen
-/. 2 8i c.893-17976_1132-1388del r.(ex09ex10del) p.delfs*? - benign g.33735176_33798267del g.33339190_33402281del - - LARGE_000003 deletion 63 Kb PubMed: van Reeuwijk 2007, OMIM:var0003 - - Germline - - - - - Johan den Dunnen
?/. 1 8i c.893-64_893-55del r.(=) p.(=) - VUS g.33780348_33780357del g.33384362_33384371del - - LARGE_000025 - - - - Germline - - - - - Tom Winder
-/. 2 - c.893-17C>G r.(=) p.(=) - benign g.33780307G>C g.33384321G>C LARGE1(NM_004737.5):c.893-17C>G, LARGE1(NM_004737.6):c.893-17C>G - LARGE_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 9 c.992C>T r.(?) p.(Ser331Phe) - pathogenic g.33780191G>A g.33384205G>A Ser331Phe - LARGE_000026 - PubMed: Clement 2008, OMIM:var0006 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1008T>C r.(?) p.(Asp336=) - likely benign g.33778028A>G g.33382042A>G LARGE1(NM_004737.5):c.1008T>C (p.D336=) - LARGE_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 10 c.1092C>T r.(?) p.(?) - benign g.33777944G>A g.33381958G>A - - LARGE_000004 other disease-associated change in one patients PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 10 c.1102C>T r.(?) p.(Gln368*) - pathogenic g.33777934G>A g.33381948G>A - - LARGE_000037 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
?/. 1 10 c.1116C>T r.(?) p.(=) - VUS g.33777920G>A g.33381934G>A - - LARGE_000038 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 2 10i c.1131+?_1131+?delins r.[1131_1132insDA935254.1:151_347, 1131_1132insDA935254.1:151_321, =] p.[Val378Leufs*2, =] - pathogenic g.? - - - LARGE_000028 mapped by linkage; SEQ exons normal; complicated ~3.5Kb deletion/~42 Kb change intron, 1 more item PubMed: Clarke 2011, OMIM:var0008 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1142G>A r.(?) p.(Trp381Ter) - pathogenic g.33733777C>T g.33337791C>T - - LARGE_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 11i c.1287+11C>T r.(?) p.(=) - VUS g.33733621G>A g.33337635G>A - - LARGE_000039 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
-/. 1 11i c.1287+105G>C r.(=) p.(=) - benign g.33733527C>G g.33337541C>G - - LARGE_000005 found in several patients PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 11i c.1287+146C>T r.(=) p.(=) - benign g.33733486G>A g.33337500G>A - - LARGE_000006 other disease-associated change in several patients PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
?/. 1 12 c.1328_1329delinsAT r.(?) p.(Cys443Tyr) - VUS g.33712193_33712194delinsAT g.33316207_33316208delinsAT - - LARGE_000020 - - - - Germline - - - - - Tom Winder
?/. 1 - c.1340G>A r.(?) p.(Arg447Gln) - VUS g.33712182C>T - LARGE1(NM_133642.4):c.1340G>A (p.R447Q) - LARGE_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1413C>A r.(?) p.(Ser471Arg) - likely benign g.33712109G>T - LARGE1(NM_133642.4):c.1413C>A (p.S471R) - LARGE_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.1420G>A r.(?) p.(Val474Ile) - likely benign, VUS g.33712102C>T g.33316116C>T 1 more item - LARGE_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 12 c.1431C>T r.(?) p.(=) - VUS g.33712091G>A g.33316105G>A - - LARGE_000016 - PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 12i c.1451+38C>T r.(?) p.(=) - benign g.33712033G>A g.33316047G>A - - LARGE_000007 found in one patient PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 12i c.1452-28C>T r.(?) p.(=) - benign g.33700521G>A g.33304535G>A - - LARGE_000040 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
-?/. 1 - c.1462C>T r.(?) p.(Leu488=) - likely benign g.33700483G>A - LARGE1(NM_133642.4):c.1462C>T (p.L488=) - LARGE_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 13 c.1483T>C r.(?) p.(Trp495Arg) - pathogenic g.33700462A>G g.33304476A>G - - LARGE_000027 - PubMed: Mercuri 2009, PubMed: Mercuri 2009, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1522G>A r.(?) p.(Ala508Thr) - VUS g.33700423C>T g.33304437C>T LARGE1(NM_133642.5):c.1522G>A (p.A508T) - LARGE_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., +?/. 3 13 c.1525G>A r.(?) p.(Glu509Lys) - likely pathogenic, pathogenic, pathogenic (recessive) g.33700420C>T g.33304434C>T Glu509Lys - LARGE_000001 - L Medne ASHG 2010 A1669, PubMed: Clement 2008, OMIM:var0001, PubMed: Longman 2003, OMIM:var0001 - - Germline - - - - - Johan den Dunnen
+/. 1 13 c.1548C>G r.(?) p.(Trp516*) - pathogenic g.33700397G>C g.33304411G>C - - LARGE_000017 - PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-/. 2 13 c.1548C>T r.(?) p.(=), p.(Tyr516=) - benign g.33700397G>A g.33304411G>A LARGE1(NM_004737.5):c.1548C>T (p.Y516=) - LARGE_000041 VKGL data sharing initiative Nederland from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
+/., +?/., ?/. 4 13 c.1640G>A r.(?) p.(Arg547His) - likely pathogenic, pathogenic (recessive), VUS g.33700305C>T g.33304319C>T - - LARGE_000018 no variant 2nd chromosome PubMed: Cummings 2017, PubMed: Godfrey 2007, PubMed: O'Grady 2016 - - Germline yes - - - - Johan den Dunnen, Sandra Cooper
?/. 1 - c.1706T>C r.(?) p.(Met569Thr) - VUS g.33700239A>G g.33304253A>G LARGE(NM_004737.4):c.1706T>C (p.(Met569Thr)) - LARGE_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 13i c.1731-24T>C r.(?) p.(=) - benign g.33679358A>G g.33283372A>G - - LARGE_000042 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
-/. 1 - c.1788G>A r.(?) p.(Ala596=) - benign g.33679277C>T g.33283291C>T - - LARGE_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1792G>A r.(?) p.(Glu598Lys) ACMG likely pathogenic g.33679273C>T g.33283287C>T - - LARGE_000096 ACMG PM1, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1802G>A r.(?) p.(Arg601His) - VUS g.33679263C>T g.33283277C>T LARGE1(NM_004737.5):c.1802G>A (p.R601H) - LARGE_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 14 c.1827A>G r.(?) p.(=), p.(Ser609=) - benign g.33679238T>C g.33283252T>C LARGE1(NM_004737.5):c.1827A>G (p.S609=) - LARGE_000043 VKGL data sharing initiative Nederland from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 2 14 c.1827A>T r.(?) p.(=) - VUS g.33679238T>A g.33283252T>A - - LARGE_000019 - PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1833G>A r.(?) p.(Ala611=) - likely benign g.33679232C>T g.33283246C>T LARGE1(NM_004737.5):c.1833G>A (p.A611=) - LARGE_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 14i c.1878-24A>G r.(?) p.(=) - benign g.33673265T>C g.33277279T>C - - LARGE_000009 found in one patient PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 15 c.1949G>A r.(?) p.(Arg650Gln) - benign g.33673170C>T g.33277184C>T - - LARGE_000044 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
-?/. 1 - c.1962G>A r.(?) p.(Glu654=) - likely benign g.33673157C>T g.33277171C>T LARGE1(NM_004737.5):c.1962G>A (p.E654=) - LARGE_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1993C>T r.(?) p.(Arg665Cys) - VUS g.33673126G>A g.33277140G>A LARGE(NM_004737.4):c.1993C>T (p.(Arg665Cys)), LARGE1(NM_004737.5):c.1993C>T (p.R665C) - LARGE_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/., -?/., ?/. 6 15 c.1994G>A r.(?) p.(Arg665His) - benign, likely benign, VUS g.33673125C>T g.33277139C>T LARGE1(NM_004737.5):c.1994G>A (p.R665H), LARGE1(NM_004737.6):c.1994G>A (p.R665H) - LARGE_000010 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India), 3 more items from website {DBsub-Emory}, PubMed: Godfrey 2007, PubMed: Narang 2020, Journal: Narang 2020 - rs1046166 CLASSIFICATION record, Germline, Unknown - 1/2794 individuals, 11/2794 individuals - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Mohammed Faruq
+/. 2 15 c.1999dup r.(?) p.(Cys667Leufs*28) - pathogenic, pathogenic (recessive) g.33673120dup g.33277134dup 1999insT, 667fsX - LARGE_000002 - PubMed: Clement 2008, OMIM:var0007, PubMed: Longman 2003, OMIM:var0002 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.2001C>T r.(?) p.(Cys667=) - likely benign g.33673118G>A g.33277132G>A LARGE1(NM_004737.5):c.2001C>T (p.C667=) - LARGE_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 15i c.2073+36C>T r.(?) p.(=) - benign g.33673010G>A g.33277024G>A - - LARGE_000011 other disease-associated change in several patients PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-/. 5 16 c.2100C>T r.(?) p.(=), p.(?), p.(Asn700=) - benign g.33670584G>A g.33274598G>A LARGE1(NM_004737.5):c.2100C>T (p.N700=), LARGE1(NM_004737.6):c.2100C>T (p.N700=) - LARGE_000012 other disease-associated change in several patients, VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Godfrey 2007 - - CLASSIFICATION record, Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.2105A>T r.(?) p.(Tyr702Phe) - VUS g.33670579T>A g.33274593T>A c.2105A>T (p.Tyr702Phe) - LARGE_000099 - PubMed: Sudha 2017 - - Germline ? - - - - LOVD
-?/. 2 - c.*207G>A r.(=) p.(=) - likely benign g.33670206C>T g.33274220C>T - - LARGE_000092 1 homozygous; Clinindb (India), 114 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16992036 Germline - 1/2795 individuals, 114/2795 individuals - - - Mohammed Faruq
Legend   How to query