Unique variants in the NEB gene

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.

607 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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 _1_24i c.(-17852_-203)_(2310+1_2311-1)del - r.0? p.0? - 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 - - - - - Johan den Dunnen
+/. 1 _1_51i c.(-17852_-203)_(6807+1_6808-1)del - r.0? p.0? - pathogenic g.(152510614_152511783)_(152591001_152608650)del - dup 5'-ex51 - NEB_000115 - PubMed: Lehtokari 2014 - - Unknown - - - - - Johan den Dunnen
+/. 1 _1_81i c.(?_-203)_(12330+529_12331-408)dup - r.? p.? - pathogenic g.(152465598_152465794)_(152599010_152608650)dup - dup 5'-int81 - NEB_000104 - PubMed: Lehtokari 2014, PubMed: Malfatti 2015, Journal: Malfatti 2015 - - Unknown - - - - - Johan den Dunnen
+?/. 3 81i_105i c.(12330+1_12331-1)_(13788+1_13789-1)[7] TRI7 r.? p.? - likely pathogenic (recessive), 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, Germline/De novo (untested) yes - - - - Johan den Dunnen
?/. 1 - c.6A>T - r.(?) p.(Ala2=) - VUS g.152589665T>A g.151733151T>A NEB(NM_001164507.1):c.6A>T (p.(=)) - NEB_000498 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 3 c.8A>G - r.(?) p.(Asp3Gly) - pathogenic g.152589663T>C g.151733149T>C - - NEB_000072 - PubMed: Lehtokari 2014 - - Germline - - - - - Johan den Dunnen
+/. 1 3i c.36+2dup - r.-29_36del p.0? - pathogenic g.152589633dup g.151733119dup g.6357dupT - NEB_000221 not in 200 control chromosomes PubMed: Ochala 2011 - - Unknown - - - - - Johan den Dunnen
+/. 5 4i c.78+1G>A - r.spl, r.37_78del p.?, p.Tyr13_Glu26del - pathogenic g.152586128C>T g.151729614C>T g.3543G>A - NEB_000068 no variant 2nd allele identified (no ex55 del) PubMed: Lehtokari 2014, PubMed: Lehtokari 2009, PubMed: Todd 2015 - - Unknown, Germline - - - - - Johan den Dunnen, Tom Winder
?/. 1 - c.153_167dup - r.(?) p.(Leu57_Ala61dup) - VUS g.152584337_152584351dup g.151727823_151727837dup - - NEB_000814 - PubMed: Arno 2017 - - Germline - - - - - Johan den Dunnen
?/., +?/. 2 5 c.169_183del - r.(?) p.(Leu57_Ala61del) - VUS, likely pathogenic g.152584331_152584345del g.151727817_151727831del - - NEB_000073 - PubMed: Lehtokari 2014 - - Germline - - - - - Tom Winder
-?/. 1 - c.255C>T - r.(?) p.(Tyr85=) - 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 - - - - - VKGL-NL_Utrecht
+/. 1 5i c.294+1G>A - r.spl p.? - pathogenic g.152584204C>T g.151727690C>T - - NEB_000009 - PubMed: Lehtokari 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 5i c.294+2T>C - r.spl p.? - pathogenic g.152584203A>G g.151727689A>G - - NEB_000010 - PubMed: Lehtokari 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 6 c.300dup - r.0 p.0 - pathogenic g.152582071dup g.151725557dup - - NEB_000228 no RNA detected (probably NMD) PubMed: Malfatti 2014 - - Unknown - - - - - Johan den Dunnen
?/. 2 - c.355A>G - r.(?) p.(Thr119Ala) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
+/. 1 7 c.410A>G - r.(?) p.(Tyr137Cys) - pathogenic g.152581468T>C g.151724954T>C - - NEB_000011 - PubMed: Lehtokari 2006 - - Germline - - - - - Johan den Dunnen
+/. 2 7 c.412C>T - r.(?) p.(Arg138*), p.(Arg138Ter) - pathogenic g.152581466G>A g.151724952G>A - - NEB_000192, NEB_000509 VKGL data sharing initiative Nederland PubMed: Lehtokari 2014 - - Unknown, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 - c.426T>A - r.(?) p.(Asp142Glu) - VUS g.152581452A>T - NEB(NM_001271208.1):c.426T>A (p.D142E) - NEB_000720 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.445del - r.(?) p.(His149Thrfs*2) - pathogenic (recessive) g.152581433del g.151724919del 152581432TG>T - NEB_000727 - PubMed: Cummings 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.471del - r.(?) p.(Ile157Metfs*71) - pathogenic g.152581408del g.151724894del 471delT - NEB_000012 - PubMed: Lehtokari 2006 - - Germline - - - - - Johan den Dunnen
+/+ 1 7i c.508-7T>A TRI2 r.spl p.(Val170fs) - pathogenic (recessive) g.152580885A>T g.151724371A>T - - NEB_000731 - PubMed: Kiiski 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 8 c.549C>A - r.(?) p.(Tyr183*) - pathogenic g.152580837G>T g.151724323G>T - - NEB_000013 - PubMed: Lehtokari 2006 - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.571G>C - r.(?) p.(Glu191Gln) - benign, 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
+/. 1 8i c.612+1G>A - r.spl p.? - pathogenic g.152580773C>T g.151724259C>T - - NEB_000197 - PubMed: Lehtokari 2014 - - Unknown - - - - - Johan den Dunnen
-/., -?/. 2 - c.612+8T>C - r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
-/. 1 - c.612+15C>T - r.(=) p.(=) - benign g.152580759G>A g.151724245G>A NEB(NM_001271208.1):c.612+15C>T - NEB_000719 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 9 c.647del - r.(?) p.(Ser216Ilefs*12) - likely pathogenic g.152579966del g.151723452del 647delG - NEB_000089 - PubMed: Lehtokari 2014 - - Germline - - - - - Tom Winder
+/. 1 9 c.694del - r.(?) p.(Gln232Argfs*31) - pathogenic g.152579921del g.151723407del - - NEB_000185 - PubMed: Lehtokari 2014 - - Unknown - - - - - Johan den Dunnen
?/. 1 - c.725A>G - r.(?) p.(Tyr242Cys) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.739del - r.(?) p.(Ala247Leufs*16) ACMG likely pathogenic (recessive) g.152574013del g.151717499del - - NEB_000828 - Ravenscroft 2020, submitted - - Germline - - - - - Gianina Ravenscroft
-?/. 1 - c.756A>G - r.(?) p.(Gln252=) - 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 - - - - - VKGL-NL_Rotterdam
-/. 3 10 c.771T>C - r.(?) p.(Ala257=), p.(?) - benign g.152573981A>G g.151717467A>G NEB(NM_001271208.1):c.771T>C (p.A257=) - NEB_000273, NEB_000102 VKGL data sharing initiative Nederland - - rs4611637 CLASSIFICATION record, Germline - 0.27-0.88 - - - VKGL-NL_Utrecht, VKGL-NL_Groningen, Johan den Dunnen
?/. 1 - c.780A>G - r.(?) p.(Pro260=) - VUS g.152573972T>C g.151717458T>C NEB(NM_001164507.1):c.780A>G (p.(=)) - NEB_000489 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 11-107 c.823_17014del - r.? p.Gln275_Asn5671del - pathogenic (!) g.? - - arr[GRCh37] 2q23.3(152427830_152567183x1)[0.5]dn NEB_000000 1 more item Sagath & Lehtokari, submitted 2020 - - De novo yes - - - - Vilma-Lotta Lehtokari
?/. 1 - c.914A>G - r.(?) p.(Asp305Gly) - 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 - - - - - VKGL-NL_Leiden
+/. 1 11i c.928-7_928-5del - r.spl? p.? - pathogenic g.152566283_152566285del g.151709769_151709771del - - NEB_000203 - PubMed: Lehtokari 2014 - - Unknown - - - - - Johan den Dunnen
+/. 2 11i c.928-1G>A - r.spl p.? - pathogenic g.152566278C>T g.151709764C>T - - NEB_000015 - PubMed: Lehtokari 2006, PubMed: Lehtokari 2014 - - Germline - - - - - Johan den Dunnen, Tom Winder
-?/. 1 - c.1022T>A - r.(?) p.(Val341Glu) - 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 - - - - - VKGL-NL_Leiden
+/. 1 13 c.1055_1056del - r.(?) p.(Tyr352*) - pathogenic g.152563492_152563493del g.151706978_151706979del - - NEB_000179 - PubMed: Lehtokari 2014 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.1098T>C - r.(?) p.(Ala366=) - 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 - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 13i c.1152+1G>A - r.spl p.(del?) - pathogenic, likely pathogenic g.152563394C>T g.151706880C>T - - NEB_000083 - PubMed: Lehtokari 2014 - - Unknown, Germline - - - - - Johan den Dunnen, Tom Winder
+/. 1 13i c.1152+1G>T - r.spl p.? - pathogenic g.152563394C>A g.151706880C>A g.32596G>T - NEB_000208 not in 236 control chromosomes PubMed: Lawlor 2011 - - Unknown - - - - - Johan den Dunnen
+/. 1 13i c.1152+5G>A - r.(spl?) p.? - pathogenic g.152563390C>T g.151706876C>T - - NEB_000207 - PubMed: Lehtokari 2014 - - Unknown - - - - - Johan den Dunnen
+/. 1 14 c.1172_1173del - r.(?) p.(Tyr391*) - pathogenic g.152554143_152554144del g.151697629_151697630del - - NEB_000129 - PubMed: Lehtokari 2014 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.1190A>G - r.(?) p.(Lys397Arg) - 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 - - - - - VKGL-NL_Leiden
+/. 1 13i_89i c.(1257+1_1258-1)_(13788+1_13789-1)del - r.? p.? - pathogenic (dominant) g.(152454645_152456955)_(152554712_152561404)del - - - NEB_000511 1 more item PubMed: [Kiiski & Lehtokari 2019] - - Germline yes - - - - Vilma-Lotta Lehtokari
+/. 1 - c.1266T>A - r.(?) p.(Tyr422Ter) - 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 - - - - - VKGL-NL_Utrecht
?/. 1 - c.1402A>G - r.(?) p.(Lys468Glu) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1413C>T - r.(?) p.(Phe471=) - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1544A>G - r.(?) p.(Gln515Arg) - 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 - - - - - VKGL-NL_Leiden
+/. 1 17i c.1569+1G>A - r.spl p.? - pathogenic g.152553150C>T g.151696636C>T - - NEB_000172 - PubMed: Malfatti 2014 - - Unknown - - - - - Johan den Dunnen
?/. 1 - c.1619C>G - r.(?) p.(Pro540Arg) - 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 - - - - - VKGL-NL_Leiden
+/. 1 18 c.1622dup - r.(?) p.(Asp542*) - pathogenic g.152552149dup g.151695635dup NG_009382.1:g.43446dupC - NEB_000216 - PubMed: Lehtokari 2011 - - Unknown - - - - - Johan den Dunnen
+/. 3 18 c.1623del - r.(?) p.(Pro541Profs*16), p.(Asp542Ilefs*15), p.(Asp542IlefsTer15) - pathogenic g.152552143del g.151695629del 1623delT, NEB(NM_001271208.1):c.1623delT (p.D542Ifs*15) - NEB_000042 VKGL data sharing initiative Nederland PubMed: Lehtokari 2014, PubMed: Lehtokari 2006 - - Unknown, Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_VUmc
+/. 2 18 c.1657_1665delinsTTTATAAT - r.(?) p.(Ala553Phefs*4) - pathogenic g.152552101_152552109delinsATTATAAA g.151695587_151695595delinsATTATAAA .1657_1665delins8 - NEB_000041, NEB_000079 - PubMed: Lehtokari 2006, PubMed: Lehtokari 2014 - - Germline - - - - - Johan den Dunnen, Tom Winder
+/. 1 18i c.1674+1G>T - r.spl p.? - pathogenic g.152552091C>A g.151695577C>A - - NEB_000142 - PubMed: Lehtokari 2014 - - Unknown - - - - - Tom Winder
+/. 1 18i c.1674+2T>C - r.spl p.? - 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 - - - - - Tom Winder
+/. 2 18i c.1675-2A>G - r.spl p.? - pathogenic g.152551145T>C g.151694631T>C - - NEB_000215 - PubMed: Lehtokari 2014 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.1779C>T - r.(?) p.(Ser593=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1782+4_1782+5del - r.spl? p.? - VUS g.152551032_152551033del g.151694518_151694519del - - NEB_000886 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - Johan den Dunnen
+/. 1 20i c.1896+2T>C - r.spl p.? - pathogenic g.152550835A>G g.151694321A>G - - NEB_000250 not in 240 control chromosomes; variant 2nd chromosome not detected - - - Unknown - - - - - Daniela Piga
?/. 1 - c.1899A>T - r.(?) p.(Arg633Ser) - VUS g.152548874T>A g.151692360T>A - - NEB_000801 6 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs77826191 Germline - 6/2784 individuals - - - Mohammed Faruq
?/. 1 - c.1911A>T - r.(?) p.(Glu637Asp) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 22i c.2106+3A>C - r.1999_2106del p.Ala667_Asp702del - pathogenic g.152548570T>G g.151692056T>G g.47420A>C - NEB_000222 not in 200 control chromosomes PubMed: Ochala 2011 - - Unknown - - - - - Johan den Dunnen
+/., +?/. 2 23i c.2211+5G>A - r.spl, r.spl? p.? - pathogenic, likely pathogenic g.152548373C>T g.151691859C>T NG_009382.1:g.47617G>A - NEB_000217 VKGL data sharing initiative Nederland PubMed: Lehtokari 2011 - - Unknown, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/. 1 - c.2211+5G>C - r.spl? p.? - 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 - - - - - VKGL-NL_AMC
+/. 1 23i c.2212-1G>C - r.spl p.? - pathogenic g.152547340C>G g.151690826C>G - - NEB_000046 - PubMed: Lehtokari 2006, PubMed: Lehtokari 2009 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.2234A>G - r.(?) p.(Asp745Gly) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2264C>T - r.(?) p.(Ser755Phe) - 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 - - - - - VKGL-NL_Leiden
-?/. 2 - c.2318A>G - r.(?) p.(Tyr773Cys) - likely benign g.152544903T>C g.151688389T>C - - NEB_000711 1 homozygous; Clinindb (India), 52 heterozygous; Clinindb (India) Faruq 2020, submtted - rs77151072 Germline - 1/2793 individuals, 52/2793 individuals - - - Mohammed Faruq
+/. 1 25 c.2319C>G - r.(?) p.(Tyr773*) - pathogenic g.152544902G>C g.151688388G>C - - NEB_000047 - PubMed: Lehtokari 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.2378T>C - r.(?) p.(Phe793Ser) - VUS g.152544843A>G - NEB(NM_001271208.1):c.2378T>C (p.F793S) - NEB_000827 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 4 25i c.2415+1G>A - r.[2311_2415del,...], r.spl p.? - pathogenic (recessive), pathogenic g.152544805C>T g.151688291C>T - - NEB_000218 multiple splice products shown in SupFig.8A PubMed: Cummings 2017, PubMed: Lehtokari 2014 - - Germline, Unknown - - - - - Johan den Dunnen
+/. 2 173 c.2444dup - r.(?) p.(Pro8147Profs*7) - pathogenic g.152544219dup g.151687705dup - - NEB_000165 - PubMed: Lehtokari 2014 - - Unknown - - - - - Johan den Dunnen
-?/., ?/. 2 - c.2510A>G - r.(?) p.(Lys837Arg) - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.2540A>G - r.(?) p.(Asp847Gly) - likely benign g.152544030T>C g.151687516T>C NEB(NM_001271208.1):c.2540A>G (p.D847G) - NEB_000477 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2573C>T - r.(?) p.(Ala858Val) - VUS g.152543997G>A g.151687483G>A NEB(NM_001271208.1):c.2573C>T (p.A858V) - NEB_000710 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.2603T>C - r.(?) p.(Leu868Pro) - benign, likely benign g.152543967A>G g.151687453A>G NEB(NM_001164507.1):c.2603T>C (p.(Leu868Pro)) - NEB_000709 3 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs143123053 Germline, CLASSIFICATION record - 3/2795 individuals - - - Mohammed Faruq, VKGL-NL_Leiden
?/. 1 - c.2637+3G>C - r.spl? p.? - VUS g.152543930C>G - NEB(NM_001271208.1):c.2637+3G>C - NEB_000826 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 3 - c.2771A>C - r.(?) p.Tyr924Ser, p.(Tyr924Ser) ACMG VUS g.152541356T>G g.151684842T>G - - NEB_000514 ACMG grading: PP3, ACMG grading: PP3; clinical myofibrillar myopathy, mild affected,, 1 more item Faruq 2020, submtted - rs199903114 Germline - 1/2794 individuals - - - Andreas Laner, Mohammed Faruq
+/., +/+ 3 28 c.2784del TRI3 r.(?) p.(Asp929Ilefs*28), p.(Pro928fs), p.(Asp929IlefsTer28) - pathogenic, pathogenic (recessive) g.152541343del g.151684829del 2784delT - NEB_000048, NEB_000256 VKGL data sharing initiative Nederland PubMed: Lehtokari 2006, PubMed: Kiiski 2016 - - Germline, CLASSIFICATION record yes - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 28 c.2827C>T - r.(?) p.(Gln943*) - pathogenic g.152541300G>A g.151684786G>A - - NEB_000210 - PubMed: Lehtokari 2014 - - Unknown - - - - - Johan den Dunnen
+/. 1 28i c.2835+5G>C - r.(spl?) p.(?) - pathogenic g.152541287C>G g.151684773C>G - - NEB_000049 - PubMed: Pelin 2002, PubMed: Lehtokari 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.2864G>A - r.(?) p.(Trp955*) - pathogenic g.152539255C>T g.151682741C>T - - NEB_000723 no variant 2nd allele identified (no ex55del) PubMed: Todd 2015 - - Germline - - - - - Johan den Dunnen
+/. 3 29 c.2920C>T - r.(?) p.(Arg974*) - pathogenic, pathogenic (recessive) g.152539199G>A g.151682685G>A - - NEB_000176 - PubMed: Lehtokari 2014, PubMed: Todd 2015 - - Unknown, Germline - - - - - Johan den Dunnen
+/. 3 29i c.2943+1G>A - r.spl p.? - pathogenic g.152539175C>T g.151682661C>T - - NEB_000220, NEB_000231 exons 82, 90, 98 are identical; this variant may, therefore, be in any of these locations PubMed: Lehtokari 2014 - - Unknown - - - - - Johan den Dunnen
-/. 1 - c.3081A>T - r.(?) p.(Lys1027Asn) - benign g.152536498T>A g.151679984T>A NEB(NM_001271208.1):c.3081A>T (p.K1027N) - NEB_000569 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.3094C>T - r.(?) p.(Pro1032Ser) - likely benign g.152536485G>A g.151679971G>A NEB(NM_001271208.1):c.3094C>T (p.P1032S) - NEB_000707 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.3147+5G>A - r.spl? p.? - benign, likely benign g.152536427C>T g.151679913C>T NEB(NM_001164507.1):c.3147+5G>A (p.?) - NEB_000706 2 homozygous; Clinindb (India), 129 heterozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs74859201 Germline, CLASSIFICATION record - 2/2795 individuals, 129/2795 individuals - - - Mohammed Faruq, VKGL-NL_Leiden
-?/. 1 - c.3147+11G>A - r.(=) p.(=) - likely benign g.152536421C>T g.151679907C>T NEB(NM_001164507.1):c.3147+11G>A (p.(=)) - NEB_000705 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., -/. 4 32 c.3191A>G - r.(?) p.(Tyr1064Cys) - likely benign, benign g.152536299T>C g.151679785T>C NEB(NM_001164507.1):c.3191A>G (p.(Tyr1064Cys)), NEB(NM_001271208.1):c.3191A>G (p.Y1064C) - NEB_000085, NEB_000475 3 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Lehtokari 2014, Faruq 2020, submtted - rs187343008 Germline, CLASSIFICATION record - 3/2795 individuals - - - Tom Winder, Mohammed Faruq, VKGL-NL_Utrecht, VKGL-NL_Leiden
-?/. 1 - c.3248C>T - r.(?) p.(Ala1083Val) - likely benign g.152536242G>A g.151679728G>A NEB(NM_001164507.1):c.3248C>T (p.(Ala1083Val)) - NEB_000704 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 32i c.3252_3255+3del - r.spl p.(Ser1084Argfs*10) - pathogenic g.152536232_152536238del g.151679718_151679724del - - NEB_000113 - PubMed: Lehtokari 2014 - - Unknown - - - - - Tom Winder
+/. 10 32i c.3255+1G>A - r.spl, r.spl? p.? - pathogenic g.152536234C>T g.151679720C>T 3458+1G>A - NEB_000050, NEB_000508 exons 82, 90, 98 are identical; this variant may, therefore, be in any of these locations, 1 more item PubMed: Lehtokari 2014, PubMed: Lehtokari 2006, PubMed: Kapoor 2012 - - Unknown, Germline, CLASSIFICATION record, De novo yes - - - - Johan den Dunnen, Tom Winder, VKGL-NL_Nijmegen
+?/., +/. 2 32i c.3255+1G>C - r.spl, r.spl? p.? - likely pathogenic, pathogenic g.152536234C>G g.151679720C>G NEB(NM_001164507.1):c.3255+1G>C (p.?) - NEB_000069 VKGL data sharing initiative Nederland PubMed: Lehtokari 2014 - - Germline, CLASSIFICATION record - - - - - Tom Winder, VKGL-NL_Leiden
+/., +?/. 7 32i c.3255+1G>T - r.spl, r.(?) p.?, p.(?) - pathogenic, likely pathogenic g.152536234C>A g.151679720C>A - - NEB_000051 exons 82, 90, 98 are identical; this variant may, therefore, be in any of these locations PubMed: Lehtokari 2006, PubMed: Lehtokari 2014 - - Germline, Unknown - - - - - Johan den Dunnen, Tom Winder
+/. 2 32i c.3255+2dup - r.(spl?) p.? - pathogenic g.152536233dup g.151679719dup 3255+2dupT - NEB_000224 - PubMed: Lehtokari 2014 - - Unknown - - - - - Johan den Dunnen
?/. 1 32i c.3255+2_3255+3insTT - r.spl? p.? - VUS g.152536233_152536234insAA g.151679719_151679720insAA - - NEB_000095 in silico predicted loss exon 32 splice donor site PubMed: Lehtokari 2014 - - Germline - - - - - Tom Winder
+/. 1 - c.3338del - r.(?) p.(His1113LeufsTer3) - pathogenic g.152534619del g.151678105del - - NEB_000507 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.3352G>T - r.(?) p.(Ala1118Ser) - pathogenic (recessive) g.152534605C>A g.151678091C>A - - NEB_000816 - PubMed: Yu 2017 - - De novo - - - - - Johan den Dunnen
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