Full data view for gene NEB

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

917 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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_24i c.(-17852_-203)_(2310+1_2311-1)del - r.0? p.0? Maternal (confirmed) - pathogenic g.(152545083_152545531)_(152599010_152608650)del - g.(152,545,083_152,545,531)_(152,599,010_152,608,650)del - NEB_000075 53-64 kb deletion PubMed: Kiiski 2013 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2006 FAM55, Fam3 Kiiski 2013 - - - - - 0 - - 1 Johan den Dunnen
+/. _1_51i c.(-17852_-203)_(6807+1_6808-1)del - r.0? p.0? Parent #2 - pathogenic g.(152510614_152511783)_(152591001_152608650)del - dup 5'-ex51 - NEB_000115 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_81i c.(?_-203)_(12330+529_12331-408)dup - r.? p.? Paternal (confirmed) - pathogenic g.(152465598_152465794)_(152599010_152608650)dup - dup 5'-int81 - NEB_000104 - PubMed: Lehtokari 2014, PubMed: Malfatti 2015, Journal: Malfatti 2015 - - Unknown - - - 0 - DNA SEQ - - MYOP - PubMed: Lehtokari 2014, PubMed: Malfatti 2015, Journal: Malfatti 2015 - F no Argentina - >22y 0 - - 1 Johan den Dunnen
+?/. 81i_105i c.(12330+1_12331-1)_(13788+1_13789-1)[7] TRI7 r.? p.? Maternal (confirmed) - likely pathogenic (recessive) g.(152454645_152456955)_(152465191_152466322)[7] g.(151598131_151600441)_(151608677_151609808)[7] - - NEB_000255 7 copies NEB exon repeat PubMed: Kiiski 2016 - - Germline yes - - 0 - DNA arrayCGH - - NEM F268Pat2683 PubMed: Lehtokari 2014,PubMed: Kiiski 2016 2-generation family, 1 affected, unaffected heterozugous carrier parents and sib - no - - - 0 - - 1 Johan den Dunnen
+?/. 81i_105i c.(12330+1_12331-1)_(13788+1_13789-1)[7] TRI7 r.? p.? Paternal (confirmed) - likely pathogenic (recessive) g.(152454645_152456955)_(152465191_152466322)[7] g.(151598131_151600441)_(151608677_151609808)[7] - - NEB_000255 7 copies NEB exon repeat PubMed: Kiiski 2016 - - Germline yes - - 0 - DNA arrayCGH - - NEM F272Pat2723 PubMed: Lehtokari 2014, PubMed: Kiiski 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - no - - - 0 - - 1 Johan den Dunnen
+?/. 81i_105i c.(12330+1_12331-1)_(13788+1_13789-1)[7] TRI7 r.? p.? Parent #2 - likely pathogenic g.(152454645_152456955)_(152465191_152466322)[7] g.(151598131_151600441)_(151608677_151609808)[7] - - NEB_000255 7 copies NEB exon repeat PubMed: Kiiski 2016 - - Germline/De novo (untested) yes - - 0 - DNA arrayCGH - - NEM F243Pat2433 PubMed: Lehtokari 2014, PubMed: Kiiski 2016 - - no - - - 0 - - 1 Johan den Dunnen
?/. - c.6A>T - r.(?) p.(Ala2=) Unknown - VUS g.152589665T>A g.151733151T>A NEB(NM_001164507.1):c.6A>T (p.(=)) - NEB_000498 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.8A>G - r.(?) p.(Asp3Gly) Parent #2 - pathogenic g.152589663T>C g.151733149T>C - - NEB_000072 - PubMed: Lehtokari 2014 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2006 FAM44 - - - - - 0 - - 1 Johan den Dunnen
+/. 3i c.36+2dup - r.-29_36del p.0? Paternal (confirmed) - pathogenic g.152589633dup g.151733119dup g.6357dupT - NEB_000221 not in 200 control chromosomes PubMed: Ochala 2011 - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ, SSCA - - NEM - PubMed: Ochala 2011 2-generation family, 3 affected brothers, unaffected carrier parents - no - - - 0 - - 3 Johan den Dunnen
+/. 4i c.78+1G>A - r.spl p.? Parent #1 - pathogenic g.152586128C>T g.151729614C>T - - NEB_000068 - PubMed: Lehtokari 2014 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - (United States) - - 0 - - 1 Tom Winder
+/. 4i c.78+1G>A - r.spl p.? Parent #2 - pathogenic g.152586128C>T g.151729614C>T - - NEB_000068 - PubMed: Lehtokari 2014 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - (United States) - - 0 - - 1 Tom Winder
+/. 4i c.78+1G>A - r.37_78del p.Tyr13_Glu26del Parent #1 - pathogenic g.152586128C>T g.151729614C>T g.3543G>A - NEB_000068 - PubMed: Lehtokari 2009 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2009 Fam11 - - - - - 0 - - 1 Johan den Dunnen
+/. 4i c.78+1G>A - r.spl p.? Parent #1 - pathogenic g.152586128C>T g.151729614C>T - - NEB_000068 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.78+1G>A - r.spl p.? Parent #1 - pathogenic g.152586128C>T g.151729614C>T - - NEB_000068 no variant 2nd allele identified (no ex55 del) PubMed: Todd 2015 - - Germline - - - 0 - DNA SEQ - - NEM Fam17 PubMed: Todd 2015 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.153_167dup - r.(?) p.(Leu57_Ala61dup) Parent #2 - VUS g.152584337_152584351dup g.151727823_151727837dup - - NEB_000814 - PubMed: Arno 2017 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS retinal disease FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - 0 - - 1 Johan den Dunnen
?/. 5 c.169_183del - r.(?) p.(Leu57_Ala61del) Unknown - VUS g.152584331_152584345del g.151727817_151727831del - - NEB_000073 - PubMed: Lehtokari 2014 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - Canada - - 0 - - 1 Tom Winder
+?/. 5 c.169_183del - r.(?) p.(Leu57_Ala61del) Parent #1 - likely pathogenic g.152584331_152584345del g.151727817_151727831del - - NEB_000073 - PubMed: Lehtokari 2014 - - Germline - - - 0 - DNA PCR, SEQ - - NEM - PubMed: Lehtokari 2014 - - - United States - - 0 - - 1 Tom Winder
-?/. - c.255C>T - r.(?) p.(Tyr85=) Unknown - likely benign g.152584244G>A g.151727730G>A NEB(NM_001271208.1):c.255C>T (p.Y85=) - NEB_000494 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5i c.294+1G>A - r.spl p.? Parent #1 - pathogenic g.152584204C>T g.151727690C>T - - NEB_000009 - PubMed: Lehtokari 2006 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Lehtokari 2006 FAM6 - - - - - 0 - - 1 Johan den Dunnen
+/. 5i c.294+2T>C - r.spl p.? Parent #1 - pathogenic g.152584203A>G g.151727689A>G - - NEB_000010 - PubMed: Lehtokari 2006 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2006 FAM19 - - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.300dup - r.0 p.0 Parent #1 - pathogenic g.152582071dup g.151725557dup - - NEB_000228 no RNA detected (probably NMD) PubMed: Malfatti 2014 - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - NEM - PubMed: Malfatti 2014 Pat6 - no France white - 0 - - 1 Johan den Dunnen
?/. - c.355A>G - r.(?) p.(Thr119Ala) Unknown - VUS g.152582014T>C g.151725500T>C NEB(NM_001164507.1):c.355A>G (p.(Thr119Ala)), NEB(NM_001271208.1):c.355A>G (p.T119A) - NEB_000721 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.355A>G - r.(?) p.(Thr119Ala) Unknown - VUS g.152582014T>C g.151725500T>C NEB(NM_001164507.1):c.355A>G (p.(Thr119Ala)), NEB(NM_001271208.1):c.355A>G (p.T119A) - NEB_000721 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.410A>G - r.(?) p.(Tyr137Cys) Parent #1 - pathogenic g.152581468T>C g.151724954T>C - - NEB_000011 - PubMed: Lehtokari 2006 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2006 FAM50 - - - - - 0 - - 1 Johan den Dunnen
+/. - c.412C>T - r.(?) p.(Arg138Ter) Unknown - pathogenic g.152581466G>A g.151724952G>A - - NEB_000509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.412C>T - r.(?) p.(Arg138*) Parent #2 - pathogenic g.152581466G>A g.151724952G>A - - NEB_000192 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.426T>A - r.(?) p.(Asp142Glu) Unknown - VUS g.152581452A>T - NEB(NM_001271208.1):c.426T>A (p.D142E) - NEB_000720 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.445del - r.(?) p.(His149Thrfs*2) Parent #2 - pathogenic (recessive) g.152581433del g.151724919del 152581432TG>T - NEB_000727 - PubMed: Cummings 2017 - - Germline - - - 0 - DNA RT-PCR, SEQ, SEQ-NG - WES NEM PatC9 PubMed: Cummings 2017 - F - - - - 0 - - 1 Johan den Dunnen
+/. 7 c.471del - r.(?) p.(Ile157Metfs*71) Parent #1 - pathogenic g.152581408del g.151724894del 471delT - NEB_000012 - PubMed: Lehtokari 2006 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2006 FAM42 - - - - - 0 - - 1 Johan den Dunnen
+/+ 7i c.508-7T>A TRI2 r.spl p.(Val170fs) Paternal (confirmed) - pathogenic (recessive) g.152580885A>T g.151724371A>T - - NEB_000731 - PubMed: Kiiski 2016 - - Germline yes - - 0 - DNA PCR - - NEM FAM34/F2Pat523/526 PubMed: Lehtokari 2006, PubMed: Kiiski 2016 2-generation family, 2 affected sibs - no Finland - - 0 - - 2 Johan den Dunnen
+/. 8 c.549C>A - r.(?) p.(Tyr183*) Parent #1 - pathogenic g.152580837G>T g.151724323G>T - - NEB_000013 - PubMed: Lehtokari 2006 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2006 FAM53 - - - - - 0 - - 1 Johan den Dunnen
-/. - c.571G>C - r.(?) p.(Glu191Gln) Unknown - benign g.152580815C>G g.151724301C>G NEB(NM_001164507.1):c.571G>C (p.(Glu191Gln)), NEB(NM_001271208.1):c.571G>C (p.E191Q) - NEB_000493 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.571G>C - r.(?) p.(Glu191Gln) Unknown - likely benign g.152580815C>G g.151724301C>G NEB(NM_001164507.1):c.571G>C (p.(Glu191Gln)), NEB(NM_001271208.1):c.571G>C (p.E191Q) - NEB_000493 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8i c.612+1G>A - r.spl p.? Parent #1 - pathogenic g.152580773C>T g.151724259C>T - - NEB_000197 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.612+8T>C - r.(=) p.(=) Unknown - benign g.152580766A>G g.151724252A>G NEB(NM_001164507.1):c.612+8T>C (p.(=)), NEB(NM_001271208.1):c.612+8T>C - NEB_000492 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.612+8T>C - r.(=) p.(=) Unknown - likely benign g.152580766A>G g.151724252A>G NEB(NM_001164507.1):c.612+8T>C (p.(=)), NEB(NM_001271208.1):c.612+8T>C - NEB_000492 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.612+15C>T - r.(=) p.(=) Unknown - benign g.152580759G>A g.151724245G>A NEB(NM_001271208.1):c.612+15C>T - NEB_000719 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.647del - r.(?) p.(Ser216Ilefs*12) Paternal (confirmed) - likely pathogenic g.152579966del g.151723452del 647delG - NEB_000089 - PubMed: Lehtokari 2014 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 mother homozygous carrier - - (Canada) European, French Canadien - 0 - - 1 Tom Winder
+/. 9 c.694del - r.(?) p.(Gln232Argfs*31) Parent #1 - pathogenic g.152579921del g.151723407del - - NEB_000185 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.725A>G - r.(?) p.(Tyr242Cys) Unknown - VUS g.152574027T>C g.151717513T>C NEB(NM_001271208.1):c.725A>G (p.Y242C) - NEB_000491 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.739del - r.(?) p.(Ala247Leufs*16) Parent #1 ACMG likely pathogenic (recessive) g.152574013del g.151717499del - - NEB_000828 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - DNA SEQ - - FADS D17-1855 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - 1 Gianina Ravenscroft
-?/. - c.756A>G - r.(?) p.(Gln252=) Unknown - likely benign g.152573996T>C g.151717482T>C NEB(NM_001271208.1):c.756A>G (p.Q252=) - NEB_000490 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.771T>C - r.(?) p.(Ala257=) Unknown - benign g.152573981A>G g.151717467A>G NEB(NM_001271208.1):c.771T>C (p.A257=) - NEB_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.771T>C - r.(?) p.(Ala257=) Unknown - benign g.152573981A>G g.151717467A>G NEB(NM_001271208.1):c.771T>C (p.A257=) - NEB_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 10 c.771T>C - r.(?) p.(?) Unknown - benign g.152573981A>G g.151717467A>G - - NEB_000102 - - - rs4611637 Germline - 0.27-0.88 - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.780A>G - r.(?) p.(Pro260=) Unknown - VUS g.152573972T>C g.151717458T>C NEB(NM_001164507.1):c.780A>G (p.(=)) - NEB_000489 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. 11-107 c.823_17014del - r.? p.Gln275_Asn5671del Unknown - pathogenic (!) g.? - - arr[GRCh37] 2q23.3(152427830_152567183x1)[0.5]dn NEB_000000 de novo mosaic variant. The level of mosaicism in blood 50% and in skeletal muscle tissue 40% NC_000002.11:g.=/(152427326_152427830)_(152567183_152567194)del Sagath & Lehtokari, submitted 2020 - - De novo yes - - 0 - DNA arrayCGH blood and muscle - NEB-DM Hki4763 - - F no Finland - - 0 - - 1 Vilma-Lotta Lehtokari
?/. - c.914A>G - r.(?) p.(Asp305Gly) Unknown - VUS g.152566961T>C g.151710447T>C NEB(NM_001164507.1):c.914A>G (p.(Asp305Gly)) - NEB_000487 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 11i c.928-7_928-5del - r.spl? p.? Parent #2 - pathogenic g.152566283_152566285del g.151709769_151709771del - - NEB_000203 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
+/. 11i c.928-1G>A - r.spl p.? Parent #1 - pathogenic g.152566278C>T g.151709764C>T - - NEB_000015 - PubMed: Lehtokari 2006 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2006 FAM20 - - - - - 0 - - 1 Johan den Dunnen
+/. 11i c.928-1G>A - r.spl p.? Unknown - pathogenic g.152566278C>T g.151709764C>T - - NEB_000015 - PubMed: Lehtokari 2014 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - (United States) - - 0 - - 1 Tom Winder
-?/. - c.1022T>A - r.(?) p.(Val341Glu) Unknown - likely benign g.152566183A>T g.151709669A>T NEB(NM_001164507.1):c.1022T>A (p.(Val341Glu)) - NEB_000717 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1055_1056del - r.(?) p.(Tyr352*) Parent #1 - pathogenic g.152563492_152563493del g.151706978_151706979del - - NEB_000179 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1098T>C - r.(?) p.(Ala366=) Unknown - likely benign g.152563449A>G g.151706935A>G NEB(NM_001271208.1):c.1098T>C (p.A366=) - NEB_000812 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13i c.1152+1G>A - r.spl p.(del?) Unknown - likely pathogenic g.152563394C>T g.151706880C>T - - NEB_000083 - PubMed: Lehtokari 2014 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - (United States) - - 0 - - 1 Tom Winder
+/. 13i c.1152+1G>A - r.spl p.(del?) Parent #1 - pathogenic g.152563394C>T g.151706880C>T - - NEB_000083 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
+/. 13i c.1152+1G>T - r.spl p.? Paternal (confirmed) - pathogenic g.152563394C>A g.151706880C>A g.32596G>T - NEB_000208 not in 236 control chromosomes PubMed: Lawlor 2011 - - Unknown - - - 0 - DNA DHPLC, SEQ - - NEM - PubMed: Lawlor 2011 Fam16: 2-generation family, 2 affected siblings, unaffected carrier parents - no United States - - 0 - - 2 Johan den Dunnen
+/. 13i c.1152+5G>A - r.(spl?) p.? Parent #2 - pathogenic g.152563390C>T g.151706876C>T - - NEB_000207 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
+/. 14 c.1172_1173del - r.(?) p.(Tyr391*) Parent #2 - pathogenic g.152554143_152554144del g.151697629_151697630del - - NEB_000129 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1190A>G - r.(?) p.(Lys397Arg) Unknown - likely benign g.152554125T>C g.151697611T>C NEB(NM_001164507.1):c.1190A>G (p.(Lys397Arg)) - NEB_000486 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13i_89i c.(1257+1_1258-1)_(13788+1_13789-1)del - r.? p.? Maternal (confirmed) - pathogenic (dominant) g.(152454645_152456955)_(152554712_152561404)del - - - NEB_000511 NOTE: it can not be determined whether in the triplicated region the deletion includes exons 82-89, 90-97 or 98-105 PubMed: [Kiiski & Lehtokari 2019] - - Germline yes - - 0 - DNA arraySNP - - NEM FamPatI3/II2/III3 Kiiski & Lehtokari, submmitted 3-generation family, affected maternal grandmother (I3), mother (II2) and son (III3) F;M - Finland - - 0 - - 3 Vilma-Lotta Lehtokari
+/. - c.1266T>A - r.(?) p.(Tyr422Ter) Unknown - pathogenic g.152553963A>T g.151697449A>T NEB(NM_001271208.1):c.1266T>A (p.Y422*) - NEB_000485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1402A>G - r.(?) p.(Lys468Glu) Unknown - VUS g.152553730T>C g.151697216T>C NEB(NM_001271208.1):c.1402A>G (p.K468E) - NEB_000716 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1413C>T - r.(?) p.(Phe471=) Unknown - benign g.152553719G>A g.151697205G>A NEB(NM_001271208.1):c.1413C>T (p.F471=) - NEB_000484 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1544A>G - r.(?) p.(Gln515Arg) Unknown - likely benign g.152553176T>C g.151696662T>C NEB(NM_001164507.1):c.1544A>G (p.(Gln515Arg)) - NEB_000714 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17i c.1569+1G>A - r.spl p.? Parent #1 - pathogenic g.152553150C>T g.151696636C>T - - NEB_000172 - PubMed: Malfatti 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Malfatti 2014 Pat14 - no France white - 0 - - 1 Johan den Dunnen
?/. - c.1619C>G - r.(?) p.(Pro540Arg) Unknown - VUS g.152552147G>C g.151695633G>C NEB(NM_001164507.1):c.1619C>G (p.(Pro540Arg)) - NEB_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 18 c.1622dup - r.(?) p.(Asp542*) Parent #1 - pathogenic g.152552149dup g.151695635dup NG_009382.1:g.43446dupC - NEB_000216 - PubMed: Lehtokari 2011 - - Unknown - - - 0 - DNA DHPLC, SEQ - - NEM - PubMed: Lehtokari 2011 Fam12-Lehtokari - - Hungary - - 0 - - 1 Johan den Dunnen
+/. 18 c.1623del - r.(?) p.(Asp542Ilefs*15) Parent #1 - pathogenic g.152552143del g.151695629del 1623delT - NEB_000042 - PubMed: Lehtokari 2006 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2006 FAM25 - - - - - 0 - - 1 Johan den Dunnen
+/. 18 c.1623del - r.(?) p.(Pro541Profs*16) Parent #2 - pathogenic g.152552143del g.151695629del 1623delT - NEB_000042 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.1623del - r.(?) p.(Asp542IlefsTer15) Unknown - pathogenic g.152552143del g.151695629del NEB(NM_001271208.1):c.1623delT (p.D542Ifs*15) - NEB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.1657_1665delinsTTTATAAT - r.(?) p.(Ala553Phefs*4) Parent #2 - pathogenic g.152552101_152552109delinsATTATAAA g.151695587_151695595delinsATTATAAA .1657_1665delins8 - NEB_000041 - PubMed: Lehtokari 2006 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2006 FAM20 - - - - - 0 - - 1 Johan den Dunnen
+/. 18 c.1657_1665delinsTTTATAAT - r.(?) p.(Ala553Phefs*4) Unknown - pathogenic g.152552101_152552109delinsATTATAAA g.151695587_151695595delinsATTATAAA - - NEB_000079 - PubMed: Lehtokari 2014 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - (United States) - - 0 - - 1 Tom Winder
+/. 18i c.1674+1G>T - r.spl p.? Parent #1 - pathogenic g.152552091C>A g.151695577C>A - - NEB_000142 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Tom Winder
+/. 18i c.1674+2T>C - r.spl p.? Parent #1 - pathogenic g.152552090A>G g.151695576A>G - - NEB_000199 exons 82, 90, 98 are identical; this variant may, therefore, be in any of these locations PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Tom Winder
+/. 18i c.1675-2A>G - r.spl p.? Parent #1 - pathogenic g.152551145T>C g.151694631T>C - - NEB_000215 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - yes - - - 0 - - 1 Johan den Dunnen
+/. 18i c.1675-2A>G - r.spl p.? Parent #2 - pathogenic g.152551145T>C g.151694631T>C - - NEB_000215 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - yes - - - 0 - - 1 Johan den Dunnen
-?/. - c.1779C>T - r.(?) p.(Ser593=) Unknown - likely benign g.152551039G>A g.151694525G>A NEB(NM_001271208.1):c.1779C>T (p.S593=) - NEB_000713 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1782+4_1782+5del - r.spl? p.? Parent #1 - VUS g.152551032_152551033del g.151694518_151694519del - - NEB_000886 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - DNA SEQ, SEQ-NG - gene panel MYOP Pat47 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - 1 Johan den Dunnen
+/. 20i c.1896+2T>C - r.spl p.? Parent #1 - pathogenic g.152550835A>G g.151694321A>G - - NEB_000250 not in 240 control chromosomes; variant 2nd chromosome not detected - - - Unknown - - - 0 - DNA SEQ-NG - - NEM - - - - - Italy - - 0 - - 1 Daniela Piga
?/. - c.1899A>T - r.(?) p.(Arg633Ser) Parent #1 - VUS g.152548874T>A g.151692360T>A - - NEB_000801 6 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs77826191 Germline - 6/2784 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
?/. - c.1911A>T - r.(?) p.(Glu637Asp) Unknown - VUS g.152548862T>A g.151692348T>A NEB(NM_001271208.1):c.1911A>T (p.E637D) - NEB_000712 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22i c.2106+3A>C - r.1999_2106del p.Ala667_Asp702del Maternal (confirmed) - pathogenic g.152548570T>G g.151692056T>G g.47420A>C - NEB_000222 not in 200 control chromosomes PubMed: Ochala 2011 - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ, SSCA - - NEM - PubMed: Ochala 2011 2-generation family, 3 affected brothers, unaffected carrier parents - no - - - 0 - - 3 Johan den Dunnen
+/. 23i c.2211+5G>A - r.spl p.? Parent #2 - pathogenic g.152548373C>T g.151691859C>T NG_009382.1:g.47617G>A - NEB_000217 - PubMed: Lehtokari 2011 - - Unknown - - - 0 - DNA DHPLC, SEQ - - NEM - PubMed: Lehtokari 2011 Fam12-Lehtokari - - Hungary - - 0 - - 1 Johan den Dunnen
+?/. - c.2211+5G>A - r.spl? p.? Unknown - likely pathogenic g.152548373C>T g.151691859C>T - - NEB_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2211+5G>C - r.spl? p.? Unknown - likely pathogenic g.152548373C>G g.151691859C>G NEB(NM_001271208.1):c.2211+5G>C - NEB_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 23i c.2212-1G>C - r.spl p.? Parent #2 - pathogenic g.152547340C>G g.151690826C>G - - NEB_000046 - PubMed: Lehtokari 2006, PubMed: Lehtokari 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2006, PubMed: Lehtokari 2009 FAM10 (Fam10 2009) - - - - - 0 - - 1 Johan den Dunnen
?/. - c.2234A>G - r.(?) p.(Asp745Gly) Unknown - VUS g.152547317T>C g.151690803T>C NEB(NM_001271208.1):c.2234A>G (p.D745G) - NEB_000480 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2264C>T - r.(?) p.(Ser755Phe) Unknown - VUS g.152547287G>A g.151690773G>A NEB(NM_001164507.1):c.2264C>T (p.(Ser755Phe)) - NEB_000479 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2318A>G - r.(?) p.(Tyr773Cys) Parent #1 - likely benign g.152544903T>C g.151688389T>C - - NEB_000711 52 heterozygous; Clinindb (India) Faruq 2020, submtted - rs77151072 Germline - 52/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 52 Mohammed Faruq
-?/. - c.2318A>G - r.(?) p.(Tyr773Cys) Both (homozygous) - likely benign g.152544903T>C g.151688389T>C - - NEB_000711 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs77151072 Germline - 1/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. 25 c.2319C>G - r.(?) p.(Tyr773*) Parent #2 - pathogenic g.152544902G>C g.151688388G>C - - NEB_000047 - PubMed: Lehtokari 2006 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2006 FAM19 - - - - - 0 - - 1 Johan den Dunnen
?/. - c.2378T>C - r.(?) p.(Phe793Ser) Unknown - VUS g.152544843A>G - NEB(NM_001271208.1):c.2378T>C (p.F793S) - NEB_000827 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 25i c.2415+1G>A - r.spl p.? Parent #1 - pathogenic g.152544805C>T g.151688291C>T - - NEB_000218 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - MYOP - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
+/. 25i c.2415+1G>A - r.spl p.? Parent #2 - pathogenic g.152544805C>T g.151688291C>T - - NEB_000218 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - MYOP - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
+/. 25i c.2415+1G>A - r.spl p.? Parent #2 - pathogenic g.152544805C>T g.151688291C>T - - NEB_000218 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.2415+1G>A - r.[2311_2415del,...] p.? Parent #2 - pathogenic (recessive) g.152544805C>T g.151688291C>T - - NEB_000218 multiple splice products shown in SupFig.8A PubMed: Cummings 2017 - - Germline - - - 0 - DNA RT-PCR, SEQ, SEQ-NG - WES NEM PatE2 PubMed: Cummings 2017 - F - - - - 0 - - 1 Johan den Dunnen
+/. 173 c.2444dup - r.(?) p.(Pro8147Profs*7) Parent #1 - pathogenic g.152544219dup g.151687705dup - - NEB_000165 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - yes - - - 0 - - 1 Johan den Dunnen
+/. 173 c.2444dup - r.(?) p.(Pro8147Profs*7) Parent #2 - pathogenic g.152544219dup g.151687705dup - - NEB_000165 - PubMed: Lehtokari 2014 - - Unknown - - - 0 - DNA SEQ - - NEM - PubMed: Lehtokari 2014 - - yes - - - 0 - - 1 Johan den Dunnen
?/. - c.2510A>G - r.(?) p.(Lys837Arg) Unknown - VUS g.152544153T>C g.151687639T>C NEB(NM_001164507.1):c.2510A>G (p.(Lys837Arg)), NEB(NM_001271208.1):c.2510A>G (p.K837R) - NEB_000478 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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