Full data view for gene LARGE

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.

125 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
-/. - c.-240C>T r.(?) p.(=) Unknown - benign g.34316077G>A g.33920089G>A - - LARGE_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i_10i c.-83+31477_1131+3394del r.-82_1131del p.? Parent #1 - pathogenic g.33774511_34221251del g.33378525_33825263del - - LARGE_000087 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Cummings 2017 - - Germline/De novo (untested) - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MD PatD1 PubMed: Cummings 2017 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.(?_-83+31477)_*1351del r.0? p.0? Parent #2 - pathogenic (recessive) g.(?_3774511)_(34221251_?)del - 22q12.3(33,774,511-34,221,251) 2 LARGE_000088 - PubMed: O'Grady 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDC Pat98 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >09y 0 - - 1 Sandra Cooper
-/. - c.-63C>T r.(?) p.(=) Unknown - benign g.34157526G>A g.33761539G>A - - LARGE_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.-63C>T r.(?) p.(=) Unknown - benign g.34157526G>A g.33761539G>A 1-63C>T - LARGE_000008 other disease-associated change in several patients PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - - - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/. 3 c.-31G>A r.(?) p.(=) Unknown - VUS g.34157494C>T g.33761507C>T - - LARGE_000033 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. ? c.(?)del r.? p.? Paternal (confirmed) - pathogenic g.? - - - LARGE_000000 76 Kb partial LARGE gene deletion L Medne ASHG 2010 A1669 - - Germline - - - 0 - DNA SEQ - - MDC - L Medne ASHG 2010 A1669 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1i_4i c.-145-(24848_24703)_409-(3319_3067)dup c.(-145_408dup) p.? Paternal (confirmed) - pathogenic g.? - chr22.hg18:(32355377_32355629)_(32607493_32607638)dup - LARGE_000029 252 Kb duplication exon 2-4 PubMed: Vuillaumier-Barrot 2011 - - Germline - - - 0 - DNA, RNA arrayCGH, PCRq, RT-PCR, SEQ - - LIS - PubMed: Vuillaumier-Barrot 2011 - - no - - - 0 - - 1 Johan den Dunnen
?/. _1_16_ c.? r.? p.? Parent #2 - VUS g.? - - - LARGE_000000 unknown variant 2nd chromosome - - - Germline - - - 0 - DNA SEQ - - WWS - PubMed: Clement - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.? r.(?) p.(Gln87fs*) Parent #1 - pathogenic g.? - Gln87fsX - LARGE_000000 variant not described, maybe c.259delC PubMed: Clement 2008, OMIM:var0005 - - Germline - - - 0 - DNA SEQ - - MEB - PubMed: Clement - - - - - >1y 0 - - 1 Johan den Dunnen
-?/. 3 c.16A>C r.(?) p.(=) Unknown - likely benign g.34157448T>G g.33761461T>G - - LARGE_000024 - - - - Germline - - - 0 - DNA SEQ - - LGMD - - - - - - - - 0 - - 1 Tom Winder
-?/. - c.90T>G r.(?) p.(Phe30Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.98G>A r.(?) p.(Ser33Asn) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3i_4i c.106+6363_408-6629delinsGTGTG r.107_408del p.Gly367Asnfs*27 Paternal (confirmed) - pathogenic g.34052982_34150995delinsCACAC - - - LARGE_000031 122 Kb deletion exon 4 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Vuillaumier-Barrot 2011 - - Germline - - - 0 - DNA, RNA arrayCGH, PCRq, RT-PCR, SEQ - - LIS - PubMed: Vuillaumier-Barrot 2011 - - no - - - 0 - - 1 Johan den Dunnen
?/. 3i c.107-40003_107-40002del r.(?) p.(=) Unknown - VUS g.34086656_34086657del g.33690670_33690671del - - LARGE_000049 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.164C>T r.(?) p.(Thr55Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165G>C r.(?) p.(Thr55=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.178C>T r.(?) p.(Arg60Trp) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.178C>T r.(?) p.(Arg60Trp) Unknown - VUS g.34046583G>A - LARGE1(NM_004737.5):c.178C>T (p.R60W) - LARGE_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.210C>T r.(?) p.(Arg70=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 4 c.211G>A r.(?) p.(Glu71Lys) Unknown - benign g.34046550C>T g.33650564C>T - - LARGE_000013 other disease-associated change in one patients PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - - - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.251G>C r.(?) p.(Ser84Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.266G>A r.(?) p.(Arg89Gln) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.266G>A r.(?) p.(Arg89Gln) Unknown - likely benign g.34046495C>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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.309C>A r.(?) p.(=) Parent #2 - VUS g.34046452G>T g.33650466G>T - - LARGE_000021 - PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.309C>T r.(?) p.(Ser103=) Unknown - benign g.34046452G>A g.33650466G>A LARGE1(NM_004737.5):c.309C>T (p.S103=) - LARGE_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.309C>T r.(?) p.(=) Unknown - VUS g.34046452G>A g.33650466G>A - - LARGE_000034 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.334G>A r.(?) p.(Glu112Lys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.351C>T r.(?) p.(Gly117=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391G>A r.(?) p.(Val131Ile) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.391G>A r.(?) p.(Val131Ile) Unknown - likely benign 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.409-19C>T r.(=) p.(=) Unknown - benign g.34022329G>A g.33626345G>A LARGE1(NM_004737.5):c.409-19C>T - LARGE_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 4i c.409-19C>T r.(?) p.(=) Unknown - likely benign g.34022329G>A g.33626345G>A - - LARGE_000022 - - - - Germline - - - 0 - DNA SEQ - - MDC - - no causative LARGE mutations found M - - - - 0 - - 1 Tom Winder
-/. - c.435C>T r.(?) p.(Ala145=) Unknown - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.435C>T r.(?) p.(Ala145=) Unknown - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.435C>T r.(?) p.(Ala145=) Unknown - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 5 c.435C>T r.(?) p.(?) Unknown - benign g.34022284G>A g.33626300G>A - - LARGE_000014 other disease-associated change in several patients PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - - - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. 5 c.435C>T r.(?) p.(=) Unknown - benign g.34022284G>A g.33626300G>A - - LARGE_000014 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.460G>A r.(?) p.(Val154Ile) Unknown - VUS g.34022259C>T - LARGE1(NM_133642.4):c.460G>A (p.V154I) - LARGE_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6 c.552G>A r.(?) p.(?) Unknown - benign g.34000484C>T g.33604498C>T - - LARGE_000015 other disease-associated change in several patients PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - - - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.576C>T r.(?) p.(Pro192=) Unknown - benign g.34000460G>A g.33604474G>A LARGE1(NM_004737.5):c.576C>T (p.P192=) - LARGE_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.576C>T r.(?) p.(Pro192=) Unknown - benign g.34000460G>A g.33604474G>A LARGE1(NM_004737.5):c.576C>T (p.P192=) - LARGE_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 6 c.576C>T r.(?) p.(=) Unknown - benign g.34000460G>A g.33604474G>A - - LARGE_000035 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.615+10G>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6i_7i c.616-15194_788-42870delinsATG r.616_787del p.Ser206Valfs*37 Maternal (confirmed) - pathogenic g.33871121_33976199delinsCAT g.33475135_33580213delinsCAT 615+24218_788-42869delinsAATG - LARGE_000032 105 Kb deletion exon 7 PubMed: Vuillaumier-Barrot 2011 - - Germline - - - 0 - DNA, RNA arrayCGH, PCRq, RT-PCR, SEQ - - LIS - PubMed: Vuillaumier-Barrot 2011 - - no - - - 0 - - 1 Johan den Dunnen
?/. - c.675del r.(?) p.(Val226SerfsTer2) Unknown - VUS g.33960947del g.33564961del LARGE(NM_004737.4):c.675del (p.(Val226SerfsTer2)) - LARGE_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.729G>A r.(?) p.(Thr243=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.787+32785_788-46910dup r.(?) p.(=) Unknown - VUS g.(?_33875161)_(33928049_?)dup - - - LARGE_000081 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - Unknown - - - 0 - DNA SEQ-NG LCL WES ALS 242 PubMed: Vadgama 2019, Journal: Vadgama 2019 242: proband diagnosed with ALS 243: unaffected MZ twin M - - - - 0 - - 1 Nirmal Vadgama
-?/. 7i c.788-4484T>C r.(=) p.(=) Unknown - likely benign g.33832735A>G g.33436749A>G - - LARGE_000079 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.788-29A>G r.(=) p.(=) Unknown - benign g.33828280T>C g.33432294T>C LARGE1(NM_004737.5):c.788-29A>G - LARGE_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 8 c.862T>C r.(?) p.(Trp288Arg) Unknown - VUS g.33828177A>G g.33432191A>G - - LARGE_000023 - - - - Germline - - - 0 - DNA SEQ - - MDC - - - F - United States - - 0 - - 1 Tom Winder
?/. 8 c.862T>C r.(?) p.(Trp288Arg) Unknown - VUS g.33828177A>G g.33432191A>G - - LARGE_000023 - - - - Germline - - - 0 - DNA SEQ - - MDC - - - F - United States - - 0 - - 1 Tom Winder
-/. 8i c.892+50C>T r.(?) p.(=) Unknown - benign g.33828097G>A g.33432111G>A - - LARGE_000036 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 8i_10i c.893-20485_1132-21856del r.893_1131del p.Val299Hisfs*30 Maternal (confirmed) - pathogenic g.33755643_33800775del g.33359657_33404789del 871+27358_1132-21850del42152insT - LARGE_000030 42 Kb deletion exon 9-10 PubMed: Vuillaumier-Barrot 2011 - - Germline - - - 0 - DNA, RNA arrayCGH, PCRq, RT-PCR, SEQ - - LIS - PubMed: Vuillaumier-Barrot 2011 - - no - - - 0 - - 1 Johan den Dunnen
-/. 8i c.893-17976_1132-1388del r.(ex09ex10del) p.delfs*? Both (homozygous) - benign g.33735176_33798267del g.33339190_33402281del - - LARGE_000003 deletion 63 Kb PubMed: van Reeuwijk 2007, OMIM:var0003 - - Germline - - - 0 - DNA MAPH, MLPA - - WWS - PubMed: van Reeuwijk 2007 unaffected carrier parents second degree cousins; brother of 17436019.1 M - Saudi Arabia - - 0 - - 1 Johan den Dunnen
-/. 8i c.893-17976_1132-1388del r.(ex09ex10del) p.delfs*? Both (homozygous) - benign g.33735176_33798267del g.33339190_33402281del - - LARGE_000003 deletion 63 Kb PubMed: van Reeuwijk 2007, OMIM:var0003 - - Germline - - - 0 - DNA MAPH, MLPA - - WWS - PubMed: van Reeuwijk 2007 unaffected carrier parents second degree cousins; sister of 17436019.2 F - Saudi Arabia - - 0 - - 1 Johan den Dunnen
?/. 8i c.893-64_893-55del r.(=) p.(=) Unknown - VUS g.33780348_33780357del g.33384362_33384371del - - LARGE_000025 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - United States - - 0 - - 1 Tom Winder
-/. - c.893-17C>G r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.893-17C>G r.(=) p.(=) Unknown - benign g.33780307G>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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.992C>T r.(?) p.(Ser331Phe) Parent #2 - pathogenic g.33780191G>A g.33384205G>A Ser331Phe - LARGE_000026 - PubMed: Clement 2008, OMIM:var0006 - - Germline - - - 0 - DNA SEQ - - MEB - PubMed: Clement - - - - - >1y 0 - - 1 Johan den Dunnen
-?/. - c.1008T>C r.(?) p.(Asp336=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 10 c.1092C>T r.(?) p.(?) Unknown - benign g.33777944G>A g.33381958G>A - - LARGE_000004 other disease-associated change in one patients PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - - - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. 10 c.1102C>T r.(?) p.(Gln368*) Unknown - pathogenic g.33777934G>A g.33381948G>A - - LARGE_000037 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 10 c.1116C>T r.(?) p.(=) Unknown - VUS g.33777920G>A g.33381934G>A - - LARGE_000038 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 10i c.1131+?_1131+?delins r.[1131_1132insDA935254.1:151_347, 1131_1132insDA935254.1:151_321, =] p.[Val378Leufs*2, =] Both (homozygous) - pathogenic g.? - - - LARGE_000028 mapped by linkage; SEQ exons normal; complicated ~3.5Kb deletion/~42 Kb insertion change intron; mRNA fibroblasts, 197/171/0 bp insertion PubMed: Clarke 2011, OMIM:var0008 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC - PubMed: Clarke 2011 unaffected carrier first-cousin parents; sister of 21248746-Pat2 F yes Lebanon - - 0 - - 1 Johan den Dunnen
+/. 10i c.1131+?_1131+?delins r.[1131_1132insDA935254.1:151_347, 1131_1132insDA935254.1:151_321, =] p.[Val378Leufs*2, =] Both (homozygous) - pathogenic g.? - - - LARGE_000028 mapped by linkage; SEQ exons normal; complicated ~3.5Kb deletion/~42 Kb change intron PubMed: Clarke 2011, OMIM:var0008 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC - PubMed: Clarke 2011 unaffected carrier first-cousin parents; sister of 21248746-Pat1 F yes Lebanon - - 0 - - 1 Johan den Dunnen
+/. - c.1142G>A r.(?) p.(Trp381Ter) Unknown - pathogenic g.33733777C>T g.33337791C>T - - LARGE_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 11i c.1287+11C>T r.(?) p.(=) Unknown - VUS g.33733621G>A g.33337635G>A - - LARGE_000039 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. 11i c.1287+105G>C r.(=) p.(=) Unknown - benign g.33733527C>G g.33337541C>G - - LARGE_000005 found in several patients PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. 11i c.1287+146C>T r.(=) p.(=) Unknown - benign g.33733486G>A g.33337500G>A - - LARGE_000006 other disease-associated change in several patients PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - - - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/. 12 c.1328_1329delinsAT r.(?) p.(Cys443Tyr) Both (homozygous) - VUS g.33712193_33712194delinsAT g.33316207_33316208delinsAT - - LARGE_000020 - - - - Germline - - - 0 - DNA PCR, SEQ - - WWS - - - - - United States - - 0 - - 1 Tom Winder
?/. - c.1340G>A r.(?) p.(Arg447Gln) Unknown - VUS g.33712182C>T - LARGE1(NM_133642.4):c.1340G>A (p.R447Q) - LARGE_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1413C>A r.(?) p.(Ser471Arg) Unknown - likely benign g.33712109G>T - LARGE1(NM_133642.4):c.1413C>A (p.S471R) - LARGE_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1420G>A r.(?) p.(Val474Ile) Unknown - likely benign g.33712102C>T g.33316116C>T LARGE1(NM_004737.5):c.1420G>A (p.V474I), LARGE1(NM_004737.6):c.1420G>A (p.V474I) - LARGE_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1420G>A r.(?) p.(Val474Ile) Unknown - VUS g.33712102C>T g.33316116C>T LARGE1(NM_004737.5):c.1420G>A (p.V474I), LARGE1(NM_004737.6):c.1420G>A (p.V474I) - LARGE_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1431C>T r.(?) p.(=) Parent #1 - VUS g.33712091G>A g.33316105G>A - - LARGE_000016 - PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. 12i c.1451+38C>T r.(?) p.(=) Unknown - benign g.33712033G>A g.33316047G>A - - LARGE_000007 found in one patient PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. 12i c.1452-28C>T r.(?) p.(=) Unknown - benign g.33700521G>A g.33304535G>A - - LARGE_000040 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.1462C>T r.(?) p.(Leu488=) Unknown - likely benign g.33700483G>A - LARGE1(NM_133642.4):c.1462C>T (p.L488=) - LARGE_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1483T>C r.(?) p.(Trp495Arg) Both (homozygous) - pathogenic g.33700462A>G g.33304476A>G - - LARGE_000027 - PubMed: Mercuri 2009, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - WWS - PubMed: Mercuri 2009 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.1483T>C r.(?) p.(trp495Arg) Both (homozygous) - pathogenic g.33700462A>G g.33304476A>G - - LARGE_000027 - PubMed: Mercuri 2009 - - Germline - - - 0 - DNA SEQ - - MDC 19299310-Pat43 PubMed: Mercuri 2009 - - - Italy - - 0 - - 1 Johan den Dunnen
?/. - c.1522G>A r.(?) p.(Ala508Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1525G>A r.(?) p.(Glu509Lys) Maternal (inferred) - likely pathogenic g.33700420C>T g.33304434C>T - - LARGE_000001 - L Medne ASHG 2010 A1669 - - Germline - - - 0 - DNA SEQ - - MDC - L Medne ASHG 2010 A1669 - - - - - - 0 - - 1 Johan den Dunnen
+/. 13 c.1525G>A r.(?) p.(Glu509Lys) Parent #1 - pathogenic g.33700420C>T g.33304434C>T Glu509Lys - LARGE_000001 - PubMed: Clement 2008, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Clement - - - - - >14y 0 - - 1 Johan den Dunnen
+/. 13 c.1525G>A r.(?) p.(Glu509Lys) Maternal (confirmed) - pathogenic (recessive) g.33700420C>T g.33304434C>T - - LARGE_000001 - PubMed: Longman 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Longman 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) British - 0 - - 1 Johan den Dunnen
+/. 13 c.1548C>G r.(?) p.(Trp516*) Parent #1 - pathogenic g.33700397G>C g.33304411G>C - - LARGE_000017 - PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - WWS - PubMed: Clement - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.1548C>T r.(?) p.(Tyr516=) Unknown - benign g.33700397G>A g.33304411G>A LARGE1(NM_004737.5):c.1548C>T (p.Y516=) - LARGE_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 13 c.1548C>T r.(?) p.(=) Unknown - benign g.33700397G>A g.33304411G>A - - LARGE_000041 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 13 c.1640G>A r.(?) p.(Arg547His) Parent #1 - VUS g.33700305C>T g.33304319C>T - - LARGE_000018 no variant 2nd chromosome PubMed: O'Grady 2016 - - Germline yes - - 0 - DNA SEQ - - MDC - PubMed: O'Grady 2016 - F - Australia - >19y 0 - - 1 Sandra Cooper
+/. 13 c.1640G>A r.(?) p.(Arg547His) Parent #1 - pathogenic (recessive) g.33700305C>T g.33304319C>T - - LARGE_000018 - PubMed: O'Grady 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - MDC Pat98 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >09y 0 - - 1 Sandra Cooper
?/. 13 c.1640G>A r.(?) p.(Arg547His) Parent #1 - VUS g.33700305C>T g.33304319C>T - - LARGE_000018 - PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.1640G>A r.(?) p.(Arg547His) Parent #2 - likely pathogenic g.33700305C>T g.33304319C>T - - LARGE_000018 - PubMed: Cummings 2017 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MD PatD1 PubMed: Cummings 2017 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.1706T>C r.(?) p.(Met569Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 13i c.1731-24T>C r.(?) p.(=) Unknown - benign g.33679358A>G g.33283372A>G - - LARGE_000042 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.1788G>A r.(?) p.(Ala596=) Unknown - benign g.33679277C>T g.33283291C>T - - LARGE_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1792G>A r.(?) p.(Glu598Lys) Both (homozygous) ACMG likely pathogenic g.33679273C>T g.33283287C>T - - LARGE_000096 ACMG PM1, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - 0 - DNA SEQ-NG - 758-gene panel ID 11DG1643 PubMed: Anazi 2017 familial M yes Saudi Arabia - - 0 - - 1 Johan den Dunnen
?/. - c.1802G>A r.(?) p.(Arg601His) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1827A>G r.(?) p.(Ser609=) Unknown - benign g.33679238T>C g.33283252T>C LARGE1(NM_004737.5):c.1827A>G (p.S609=) - LARGE_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1827A>G r.(?) p.(Ser609=) Unknown - benign g.33679238T>C g.33283252T>C LARGE1(NM_004737.5):c.1827A>G (p.S609=) - LARGE_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 14 c.1827A>G r.(?) p.(=) Unknown - benign g.33679238T>C g.33283252T>C - - LARGE_000043 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
Legend   How to query   « First ‹ Prev     1 2     Next › Last »